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2009 Vol 1: Newsletter - HHT Foundation Awards 3 Research Grants ...






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    2009 Vol 1: Newsletter - HHT Foundation Awards 3 Research Grants ... 2009 Vol 1: Newsletter - HHT Foundation Awards 3 Research Grants ... Document Transcript

    • Hereditary Hemorrhagic IN THIS ISSUE... Telangiectasia Foundation Research Grants Awarded ........................................................1 International, Inc. Welcome New Board Members................................................4 (Osler-Weber-Rendu Syndrome) National Patient & Family Conference ............................... 6-11 HHT For Clinicians Conference................................................12 Direct HHT Treatment Centers..........................................................13 HHT At A Glance .....................................................................13 Global Research & Medical Advisory Board ............................14 For Family, Friends Scientific & Medical Update .............................................15-17 and Supporters Research Update ....................................................................17 Connection Our Story ................................................................................21 HHT in the Press .....................................................................22 HHT Fundraising ..............................................................23-30 Legislative Update ...........................................................30-31 Directory of Regional Networking Alliances ...........................32 Donations to the Foundation ...........................................34-38 Membership/Donation Form .................................................39 In August, the HHT Foundation received nine applications for one Conference in Chicago. Over the course of a few hours, three very $50,000 mechanism of disease grant. The research applications were generous donors came forward and we were able to raise an additional outstanding! The research review committee scored each application $100,000 so that the work of three scientists could be funded to advance and presented their recommendations of the top studies to be discussed critical HHT Research! for funding to the Board of Directors at the Patient and Family Title: Genetic Modification of Title: Therapeutic Potential Title: Cross-talk between HHT of VEGF Blockade in HHT Alk1/Endoglin and Notch Researcher: Rosemary Pathogenesis Signaling in HHT Akhurst, PhD, University of Researcher: S. Paul Oh, PhD, Researcher: Christopher California – San Francisco University of Florida Hughes, PhD, University of Summary: This study will Summary: The drug California - Irvine open up a whole new area of (Avastin) blocks a protein Summary: This is a new investigation and it addresses (VEGF) that advances the area of HHT study! It is a fundamental question in development of artery clear that people from HHT, what gene(s) act in concert with endoglin formation, called angiogenesis. It is Dr. Oh’s families with identical gene defects experience and ALK1 to predispose certain patients to hypothesis that subjects with HHT produce multiple clinical types and levels of disease the development of PAVMs? This modifiable more of this VEGF protein, and that this severity. In prior experiments, a series of proteins gene, in stark contrast to the original two genes continued promotion of vessel development is called “notch” have demonstrated in animals (which are receptor genes and difficult to target key to the expression of the multiple defects. to produce defects in the walls of arteries, for the formulation of therapeutic agents), may This would provide much needed additional quite similar to those observed with ALK1 and give us an easier pathway for treatment. It is insight to advance this particular drug for HHT endoglin. It may be that “notch” influences the the first study to be funded that partners basic therapeutic options (and perhaps warn us of clinical presentation of ALK1 defects in humans. laboratory research with clinical research. This potential risks). In addition, this study will Dr. Hughes proposes to use an elegant 3D study will be conducted in collaboration with investigate the relevance of this parameter in the system of vessel development. In the laboratory, HHT Centers in France and The Netherlands. disease process, give us disease understanding, developmental cells called “stem cells” (or the and outline potential alternative targets for more matured “endothelial cells” which form treatment pathways. the lining of our arteries) are injected into a gel substance after which these cells begin to curve together and form tubes; just the way our arteries Thank you to everyone who has donated to the HHT Foundation research fund. These begin to develop in our bodies. By altering donations, along with three extraordinary donors who stepped up at the national conference, the cells, for either or both ALK1 and notch, he made these grants possible. We are also very appreciative of these researchers and all of the can actually observe if there are interactions in scientists interested in HHT research. the formation of these arterial tubes. If notch is Together, we will make a difference in the lives of those affected by HHT! relevant, we can begin to find drugs that affect notch, and see if it makes a difference in this very same tube-development model. HHT: Osler-Weber-Rendu
    • HHT Foundation Letter from the President By Bob Berkman Wish List 2 new computers or the funds to purchase them (1) tower for the office I hope everyone had a healthy and happy holiday season. (2) laptop for the office and offsite We know that our country is going through difficult times and that most of us are facing challenges not only to our conferences / meetings health but also our financial well being. In the face of this, keeping the momentum that the Website services – (1) programming HHT Foundation has gained this year must be maintained. (This newsletter will provide (2) website management you with a picture of what has been accomplished). We all have too much at stake not Legal services – contract review prior to do everything we can to get people with HHT diagnosed, increase the effectiveness of treatment, and to find a cure. to HHT functions Writer – newsletter, PR campaign I often refer to the families affected by HHT as the HHT Community. I recently looked at some definitions of community and found this one that I think most represents us. “A self- organized network of people with a common agenda, cause or interest, who collaborate by Thank You sharing ideas, information and other resources.” Our community not only includes affected to Foundation volunteer, Trish Linke, for families, but also includes the HHT Foundation staff, the doctors providing care in our providing the funding to purchase a new Centers of Excellence, all doctors who are treating HHT patients, research scientists who are working to better understand HHT and produce a cure, and our HHT Foundation Board of laptop computer! Directors. In order for this community to fulfill its intention, it is important for the members to give as well as receive, to provide as well as use. Some of you have made financial contributions. Those are greatly needed and greatly appreciated. I request that every member of this www.hht.org community see what financial support you can provide. As you know, we have been You can now use your working diligently for Federal funding. We will be asking you to participate in this effort by credit card online to: communicating with your State Senator and local Representatives as we move this initiative donate to our annual forward. People who are extremely knowledgeable in the workings of the government tell appeal campaign or make us that this is the critical element in getting Federal funding. general donations, What else can you do? Recently, CNN aired “CNN Heroes”. It showed some great examples of ordinary people who, through commitment and determination, made an extraordinary difference in the lives of others and achieved a level of personal satisfaction that was palpable. There are a number of people who are already HHT Heroes. We need register for conferences! more. How about you becoming one? Direct Thank You to Our Contributing Sponsors Connection Published by: HHT Foundation International, Inc. P.O. Box 329, Monkton, MD 21111 U.S.A. TEL: 800-448-6389 (U.S.) | 410-357-9932 (Int’l) FAX: 410-357-0655 WEBSITE: www.hht.org E-MAIL: hhtinfo@hht.org The HHT Foundation International, Inc. was formed to aid and support families with the genetic disorder Hereditary Sponsorship and/or advertising in the HHT Foundation Direct Connection newsletter does not Hemorrhagic Telangiectasia (Osler-Weber-Rendu Syndrome). constitute endorsement of any treatment or product by the HHT Foundation International. Please feel free to copy this newsletter and share with family, Interested in becoming a sponsor? Contact HHT for sponsorship opportunities and see how you can contribute today! 800-448-6389 friends and physicians. Direct Connection HHT: Osler-Weber-Rendu
    • HHT Mission & Value Statements HHT FOUNDATION Over the last 17 years, The HHT Foundation International, Inc. has grown from INTERNATIONAL Marianne Clancy, Executive Director its infancy — a small group of dedicated individuals organizing and planning Monkton, MD around a kitchen table, to its young adolescent years, which we are currently in, just waiting to break free and truly spread our wings. Through these years of James Gossage, MD, Medical Director growth, the HHT Foundation has been able to clearly define its mission. Augusta, GA The Mission of the HHT Foundation International is to find a cure for BOARD OF DIRECTORS HHT while saving the lives and improving the well-being of individuals and Robert Berkman, President families affected by HHT. Blufton, SC Cheryl Wilson, Vice President To achieve this mission, the HHT Foundation will: Pineville, LA Charles Atkins, Treasurer Fund research to find better treatments and a cure. Alexandria, VA Educate families and physicians about HHT so that awareness of crucial John (Jack) McMahon, Secretary diagnosis and available treatments prevents needless disability and death. Downingtown, PA Murray Brilliant, PhD Provide linkages between people affected by HHT. Tucson, AZ Debra Drysdale Collaborate with multidisciplinary HHT Treatment Centers worldwide Newport Beach, CA while advocating for patient access to these Centers. Michael Daly Longmeadow, MA Advocate for and support those with HHT while increasing public, private, and governmental awareness of the disorder. Diana Meiches Prides Crossing, MA Engage the scientific and medical community so that talented individuals Parks Moss dedicate efforts toward advances in HHT screening, diagnosis, treatment, Savannah, GA and research. Michael Nolan Cork, Ireland The HHT Board of Directors and Foundation staff live by this mission on a Scott Olitsky, MD daily basis. Every project must meet at least one of our mission’s objectives. This Leawood, KS mission acts as a beacon of light that we are always striving to reach. Michael Pruitt, Esq. The Woodlands, TX In November 2008, the Board of Directors adopted an HHT Value Statement. A value statement is different from a mission statement in that it identifies Joel Rosner Teaneck, NJ characteristics that we want to be identified with as a Foundation verses actions we want to achieve. It is the sincere desire of the Board that all HHT Centers, Dennis Sprecher, M.D. Blue Bell, PA physicians, researchers, staff, and members will incorporate these values into everything they do to advance the HHT mission. HHT VALUES – characteristics that direct all of our thoughts and actions as we INTERESTED IN SERVING strive toward a common goal. ON OUR Compassionate BOARD OF DIRECTORS? Call the HHT office at Ethical 800-HHT-NETW or e-mail us at Patient & Family Focused hhtinfo@hht.org. Responsive Tell us your talents and Results Oriented how you feel you can Collaborative help move the foundation forward. HHT: Osler-Weber-Rendu Direct Connection 3
    • Murray H. Brilliant, utilized her business and legal degrees to Michael K. Pruitt, Esq. PhD, has been the enhance the financial operations of companies is President of The Pruitt Lindholm Professor such as General Electric Company, Kidder Group, Inc. Mike Pruitt of Genetics in the Peabody & Co., Inc., and Herbert J. Sims & Co., has served ambulatory Department of Pediatrics Inc. and acute care segments at the University of Ms. Meiches and her husband, Marc, live in of the health care Arizona College of Prides Crossing, Massachusetts. Marc has HHT industry for over 30 years Medicine since 1997. and Diana is determined to use her skills and as a clinician, clinical Dr. Brilliant chairs resources to raise money and awareness for this manager, administrator, the Research Steering disorder. The Meiches have always been very consultant, transactional Committee of the committed to the HHT Foundation and we are health care attorney, Department of Pediatrics and is the Director honored to have Diana on our team. and large system executive. His focus over of the Genetics Graduate Program at the the past 18 years has been to create market University of Arizona. Dr. Brilliant has over and system-oriented strategies and to execute 25 years experience in molecular genetics Scott E. Olitsky, development initiatives designed to strengthen with 60 publications in this area. In particular, MD is the Chief of the providers operating in those arenas. His his efforts have led to the identification of Ophthalmology at former employers have included for-profit two of the four known genes involved in Children’s Mercy and non-profit health systems and the nation’s oculocutaneous albinism as well as the HPS1 Hospitals and Clinics in largest niche health care law firm. Mike did gene associated with albinism plus a bleeding Kansas City, Missouri his undergraduate work at the University of disorder. Recently, his laboratory has been and Director of Pediatric Florida and the Medical College of Georgia, working to develop a novel gene therapy Ophthalmology at the completed his MHA at Duke University, approach to address the problems associated University of Missouri. and holds a Juris Doctorate from Valparaiso with vision in people with albinism. Dr. Olitsky has served on University. He is a member of the American Dr. Brilliant and his wife of 30 years, Leanne numerous committees Health Lawyers Association, and is a diplomate Schwartz, R.N., live in Tucson, Arizona. They and boards for a variety of community service (CHE) in the American College of Healthcare have one daughter, Esther Brilliant, currently organizations, including but not limited to, Executives. attending Law School at the University of Children’s Center for the Visually Impaired, Mr. Pruitt and his family live in The Arizona. Dr. Brilliant diagnosed his own HHT the Blind Association of WNY, and the Woodlands, Texas. Mike is very involved in in 1980, while still a graduate student. He Learning Disability Committee NYSOS. He Youth Soccer. He is the chair of the Strategic is grateful to the HHT foundation and to Dr. is also an accomplished author, with over 50 Planning Committee for the Montgomery Robert White for saving his life and those of published articles, 5 books, and more than 30 County Youth Soccer Club and is the President his affected family members. He is committed book contributions; a teaching professor, and of the Timberline Youth Soccer Association. to promoting the goals of the HHT foundation an international speaker. Dr. Olitsky has also Mr. Pruitt is excited to serve on the HHT and to helping others affected by this disorder. designed the Olitsky Calibrated Needle Holder Foundation Board of Directors. His expertise (Katena Products). will fill a critical need as we begin to implement Dr. Olitsky and his family live in Leawood, the expansion of HHT Centers throughout Diana R. Meiches Kansas. He is part of a family of five North America. has been the member generations of HHT patients, including his of various Boards of three children. Scott has become passionate Directors including the about making a difference in the lives of HHT Loomis Communities patients. He is currently training to climb Mt. (Massachusetts) and Kilimanjaro in an attempt to raise money and the Heart of America increase the awareness of HHT. Dr. Olitsky Shakespeare Festival wants to use his experience and resources to (Missouri). She is a small advance novel therapies for nosebleeds. “The business owner that has HHT Foundation and the doctors interested in Remembering my mother, Ruth led fundraising efforts this disease have done great things for people Ribicoff, and honoring her birth for various 501(c)(3) entities including the HHT with HHT, including most of the people in my Foundation International, the Robert I. White, immediate family.” The HHT Foundation is 100 years ago! Jr. Professorship in Interventional Radiology grateful for Dr. Olitsky’s willingness to give at Yale University, and The Heart of America back to the community and serve on the Board Ruth was a kind and warm-hearted Shakespeare Festival. of Directors. person who suffered multiple, Mrs. Meiches received an undergraduate severe symptoms of HHT — business degree from the University of interfering with her daily life and Nebraska and graduated cum laude from ending her life far too early. Villanova University School of Law. She has Jane Ribicoff Silk Past President, HHT Foundation International 4 Direct Connection HHT: Osler-Weber-Rendu
    • Executive Director Report By Marianne S. Clancy With the advent of the New Year, I would The HHT Initiatives for the 21st Century Conference held in like to take the time to reflect on this past collaboration with the Centers of Disease Control was a landmark event year and the steps taken by the HHT that increased HHT’s profile among the leading medical and allied Foundation International to move HHT health organizations throughout North America. The results of the forward on your behalf. meeting will lay the groundwork for the types of initiatives that we will The Foundation has continued to build seek through our legislative advocacy in Congress. on supporting crucial research by funding The National Patient and Family Conference held in Chicago was a Young Investigator’s grant in search of the most engaging and exciting meeting that I have attended since the fourth HHT gene. Due to the incredible my involvement with the Foundation! We were able to hold our generosity of a few major donors, we were first continuing medical education (CME) accredited conference for able to fund 3 basic research grants that physicians and allied health professionals through a partnership with are important in understanding why HHT Northwestern University Feinberg School of Medicine and our HHT develops, why some organs are affected, and the potential of new drug experts. Our family and patient conference provided a comprehensive therapies that must be proven in the laboratory before embarking on patient focused program along with over 60 workshops throughout the human experimentation. The nosebleed severity index study funded by weekend. the Foundation will be completed and reported on at the Scientific and We will build upon these successes in 2009. Your support is needed Medical Conference in Spain in May 2009. The next step will be to fund a through these turbulent economic times in order for the HHT study that will scientifically test several different therapies to reduce the Foundation to continue being an accessible, responsive, and results- volume and intensity of your nosebleeds. oriented organization. The addition of a part-time Medical Director has been a huge step forward for HHT and our work together will begin to produce tangible Best Wishes for a Happy and Healthy and New Year. results for our community. Our first priority is to open two new HHT Centers of Excellence in 2009. We are involved in the launch of a North American Therapeutics Group that will primarily focus on new medications and therapies that will improve the quality of life for all of those with HHT. This group will also foster increased collaborations Marianne S. Clancy with the HHT Centers of Excellence. Executive Director It is that time of year again when the Nomination Committee puts a call out to our members. We NEED individuals willing to serve on the HHT Board of Directors It’s a big title, Board Director, experience in health care, medicine, genetics, are key to the success of every aspect of but what does it mean? legislation & advocacy, business, and law. the foundation from our regional and The Board of Directors oversee and direct We desperately need an individual(s) with national conferences to capitol hill activities the activities of the HHT Foundation. The marketing, public relations, media, and/or to fundraising. We need Board Directors HHT Foundation Board of Directors is an communications experience. We also need who are ready, willing, and able to commit active position. As a group, the Board votes individuals willing to raise funds and/or themselves to at least a two-year term. upon the annual budget and programs to be nurture our local networking groups. You implemented. As individual board members, don’t have to be a corporate executive or even How do I move to the next step? each person chairs a committee and serves on have HHT. What you need is a passion about If you are interested in learning more about at least one other committee. HHT and a desire to make a difference! the HHT Foundation Board of Directors, please contact Jack McMahon, Nomination Why would the HHT Foundation What is required to serve on the Committee Chair at mcmahon892@msn.com. want me? Board of Directors? Jack will be able to answer any questions We currently have 14 board members. All board members volunteer their time you have. If at that point, you want to move Each board member plays a vital role in All board members are asked to attend toward becoming a board member, Jack the function of the foundation. We need two physical meetings every year and to will get you the appropriate paperwork and individuals with a variety of life experiences. participate on committee or board conference explain the nomination process. Currently, we have board members with calls several times a year. Board members HHT: Osler-Weber-Rendu Direct Connection 5
    • An amazing event…. Over 30 speakers, 16 general session lectures, and 60 workshops! Nicole Schaefer, Director of Operations Chicago is such an invigorating city with its restaurants, museums, universities and parks. It is the heartbeat of the Midwest just like the Pa- tient & Family Conference is the heartbeat of the HHT Foundation. Our speakers and workshops were no less dynamic than the city itself. The HHT Foundation, in coordination with through to their family about the importance of of the solution, like become a family ambas- the HHT Center at Washington University in St. being informed about this disorder. sador, write a Congressman/woman, educate Louis, Missouri, hosted the 14th National HHT Informative – Not only do attendees have a a community physician, start a local support Patient and Family Conference. Over 200 people better medical understanding of this disorder group, organize a fundraiser… the possibilities converged on Chicago, Illinois in September but they are more aware of all that the HHT are endless! to learn more about HHT. Each morning, Foundation does on their behalf. Impressive – The Director, and in some cases HHT physicians presented an overview of the Heart Wrenching – Some of the stories people staff, from every North American HHT Treat- diagnosis, treatment, and management of HHT ment Center was present at the conference. In within their specialty. This was followed by an addition, physicians from four medical institu- afternoon full of interactive, question and an- tions that are currently treating HHT patients swer workshops. This year, there were over 60 and want to become an HHT Center of Excel- workshops to choose from and many new topics lence participated in the three day event. were added to the program. Just as important as Empowering – To be fully educated on this the lectures, however, was the social network- potentially life-threatening disorder is nothing ing that took place every evening. On Friday, short of empowering. Individuals now realize everyone enjoyed a cocktail reception and on shared were hard to hear… stories of denial and that they have the power to coordinate their Saturday, friends and family gathered at the tragedy. But, on the other end of that story there health care, educate their community physi- gala celebration dinner and auction. was always HOPE. cians, and advocate for themselves medically It is hard to explain the impact that a Patient Inspiring – Who is not inspired by a 7 year and legislatively. and Family Conference has on your life, but old’s desire, dedication, and ability to raise over Priceless – The relationships…patient to phy- these words come to mind… $1,500 for the HHT Foundation or by a mother sician, patient to patient, physician to physician, determined to alter her family’s fate? patient to Foundation, physician to Foundation. Encouraging - The majority of those who Motivating – Enthusiasm is contagious and With these relationships, all things are possible! traveled to Chicago had never been to an HHT it motivates us to be get involved and be part conference before. Individuals are starting to get Nicole Schaefer, Director of Operations The mission of the HHT Foundation us to one another and create a bond that cannot crucial to advancing HHT into the 21st Century International is to find a cure for HHT while be broken. Through our HHT connections we and ultimately finding a cure. The patient saving the lives and improving the well-being have the resources to make informed decisions, and family conferences provide researchers of individuals and families affected by HHT. the support to get through difficult times, and something they can’t find in a lab - patient To achieve this mission, the HHT Foundation access to knowledgeable medical professionals. interaction – which has a significant impact on will: their desire to continue pursuing HHT research. Collaborate with multidisciplinary HHT Educate families and physicians about Treatment Centers worldwide while advocating Fund research to find better treatments and a HHT so that awareness of crucial diagnosis for patient access to these centers – The Patient cure – This year, the HHT Foundation received and available treatments prevents needless and Family Conference is the most visible nine applications for research and four of disability and death – Over 200 individuals collaboration of effort between the HHT them were NIH quality. For the first time ever, attended this year’s Patient and Family Treatment Centers and the HHT Foundation. we are able to fund the three most promising Conference, many of whom came as a family. In Although we partner throughout the year in research projects through the extremely addition, 25 medical professionals participated many other ways, this is has the most direct generous donations of our membership. Never in the first HHT Physician Conference. If each impact on the largest number of people. The before have we had individuals approach us one of these people shares their knowledge involvement and commitment of our treatment at the conference and ask if they could fund about HHT with five other individuals, and centers worldwide is a tremendous asset to the a research project. Within a matter of hours, so on, and so on, IMAGINE the impact of this HHT Foundation and its members. the HHT Foundation went from presenting conference! Families will be diagnosed, people one $50,000 research award to funding three will be treated, and lives will be saved. Engage the scientific and medical community awards, totaling $150,000! so that talented individuals dedicate efforts Provide linkages between people affected by toward advances in HHT screening, diagnosis, Thank you to all of those who organized, HHT – An indirect effect of every conference, treatment, and research – Scientists and attended, presented, exhibited, or sponsored the whether it’s for patients or physicians, is to physicians become interested in HHT for a 14th Patient and Family Conference. As a team, develop relationships. These relationships link variety of reasons. Keeping their interest is we have advanced the HHT mission! 6 Direct Connection HHT: Osler-Weber-Rendu
    • The HHT Foundation International would like to thank a number of individuals and corporations who have contributed to the success of our 14th Patient and Family Conference. CORPORATE SPONSORS DONATED SERVICES VOLUNTEERS FROM THE CHICAGO AREA ARUP Labs Melissa Blackburn, Graphic Designer Sandy Lurie Celgene Karen Lange — Thank you for creating such a Art Lurie University of Pennsylvania DNA lovely collage for Dr. Faughnan’s tribute. Lindsey Lurie Diagnostics Laboratory Travis C. Berry, Photographer Daryl Anisfeld Michael Anisfeld CORPORATE DONORS SCHOLARSHIP DONATIONS Ron Gaskins Nosebud Anonymous Donor Rita Gaskins Total Promotions, Inc. Elliot and Carol Engberg Lori Spangenberg Main Freight, Inc. Don and Debra Drysdale Reta Kunz-Jankowski Michelle Mentges Byron Foster CORPORATE EXHIBITORS Patrick Stachelek Lynne Sekarski Ambry Genetics Dr. Robert and Mrs. Pat Kelly White Teri Colmar ARUP Labs Cathy Ryder Gage Phytolaboratories (NO BLEED) RESEARCH GRANT DONORS Ilene Cablk Terumo Interventional Systems Anonymous Donor Marc and Diana Meiches Michael Nolan and the Grace Nolan Foundation We have so many people to thank that have donated their time and talents throughout the year in preparing for this event. We are truly appreciative of your time and expertise. Thank you for making this conference a success! Conference Program Committee Speakers The HHT Foundation Staff and Members Conference Auction Committee HHT Foundation Board of Directors Over 150 items were donated by Corporations, members, their families and friends, to support the mission of the HHT Foundation. Anonymous Donor Joelle Sagner Hilton San Francisco Spa Gregorie’s Chuck & Oranee Abbott John & Jane Shalam Indianapolis Colts St. John’s Coffee Roasters Michael & Daryl Anisfeld Stephen & Jane Silk Jimmy Kimmel Live The Monocle Melissa Blackburn Dolores Snyder Law Office of Don Drysdale The Scotch Malt Whisky Society Bea Breslaw Vera Sprecher Long Cove Golf Club University of Pennsylvania DNA Richard Butler David & Joanna Stoner Manhattan Beachware Diagnostic Lab Mr. & Mrs. Craig Colmar Matthew Tilker Marriott Newport Beach Bayview Don & Deb Drysdale Michael & Nichol Timothy Mrs. Prindables Brian & Penny Fife Karen Jo Whittlesey Phoenix Park Hotel Dr. James Gossage Rotenier, Ltd. John Huisenga Angelica Boutique Richard Hutman ARUP Labs Jean Johnson Baltimore Ravens Dr. Michele Letarte Belfair Golf Club Shirley Levine Berkeley Golf Club Jennifer Lewis Blackburn Arts Marge Lewter Charlie Palmer Steak Dr. & Mrs. Steven Lindheim Clyde’s Restaurant Art & Sandy Lurie Cookie Lee Jewelry Jack & Ruth McMahon Coors Light Parks & Kathryn Moss Duffy Electric Boat Company Mike Nolan Ehrlooms Fine Jewelry Alexandra Nowack Green Bay Packers Beth Plahn Haig Point Golf Club Brian Reed HHT Foundation Dennis & Maureen Routledge International, Inc. HHT: Osler-Weber-Rendu Direct Connection 7
    • 14th National Patient and Family Conference Nicole Schaefer, Director of Operations Hereditary Hemorrhagic Telangiectasia (HHT) is a family affair and A Family of Devoted Staff and Board Members that was never more evident than at this year’s conference in Chicago, Countless hours of planning and preparation goes into designing a Illinois on September 26-28, 2008. conference of this magnitude. Each person in our family had a job to do. Some were constantly moving audio visual equipment from one room A Family of Physicians and Scientists to another. Others were working the sales and registration tables. Some were making copies. While others of us were ringing bells and keeping everything running on time. Without the camaraderie and commitment of these individuals, and their spouses, there would not be a Patient and Family Conference. Dr. Joshua Murphy, Dr. Andy White, Dr. Jay Piccirillo, Dr. Douglas Ross Over three days, twenty-six doctors specializing in Pediatrics, Pulmonology (Lung), Hematology (Blood), Gastroenterology (GI), Otolaryngology (ENT), Neurology (Brain), and Interventional Radiology David Stoner (Board Alumni), Don Joel Rosner (Board Member), Sharon Williams presented the symptoms, manifestations, treatments and management Drysdale (Spouse), Diana Meiches (Board (Legislative and RNA Manager) talking with of HHT in each area of the body. In addition, we heard from scientists Member), Mary Leigh Krock (Membership Foundation members. currently performing studies in the area of HHT. The research ranged Coordinator) from the affects of antioxidants on HHT to the development of mouse models that mimic the pathological features of HHT to clinical trials testing novel drug therapies. A Family of HHT Members One of the greatest benefits of attending an HHT Patient and Family Conference is that you realize you are not alone. You can have a nosebleed and it’s ok, there’s Kleenex in every room! There is hope and inspiration in the stories. There is motivation to get involved and make a difference. And now, there are regional networking alliances designed to nurture these new found friendships and continue the conversations that were started in Chicago. Families Coming Together Paul Oh, PhD (US), Roberto Zarrabeitia, MD (Spain), Michelle Letarte, PhD (Canada), Marie Faughnan, MD (Canada), Carmelo Bernabeu, PhD (Spain), Bob White, MD (US) for Different Reasons This year, more than These physicians and scientists took a very complicated, multi- other years, families discipline, genetic disorder and broke it down into a medical condition came to the conference that we can all understand. Although the fundamental basis of this together… Husbands and disorder remains the same, the medical community is constantly fine wives, brothers and sisters, tuning the treatment and management approaches. Eric Johnson, an in-laws, aunts and nieces, HHT Foundation member from Farragut, Tennessee, commented, “I parent and child. Although have attended the last 3-4 conferences and not one of them has been everyone received the the same. The changes in treatment are huge just in the last two years!” same information at the conference, not everyone was there for the same This is because our family of physicians and scientists are dedicated to reason. improving the lives of those affected by HHT. 8 Direct Connection HHT: Osler-Weber-Rendu
    • Multi-Generation Family Non-HHT Family Members Supporting their HHT Family HHT is an autosomal In a family of genetic disorder, six daughters, meaning it doesn’t skip four of them a generation. However, have HHT. that doesn’t mean that However, it every family is aware of wasn’t until the generational layers a few years that exist in their family. ago that they It is truly something even realized extraordinary to see they had this multiple generations disorder. Mario and Rosa Gatto with their daughter, Ann Marie within a family educating Castle, and her children. One sister, themselves about a Joyce Nock, Ethel Achuff with her brother-in-law, Cliff Nock and sister, Ruth common condition. Instead discovered she McMahon. of denying the existence of HHT, the Gatto/Castle family embraced it so had HHT with that the next generation can be proactive with their medical care. liver involvement, which ultimately took her life this past April. Ruth McMahon, Joyce’s sister, also has HHT. Ruth and her husband (HHT Board Secretary), Jack McMahon, attended the Chicago Conference to learn more about this disorder since they have taken on the role of Overcoming Family Tragedy Family Ambassador. What makes this story special is that Ruth’s sister Adriana Vera has had an Ethel, and Joyce’s husband, Cliff, both attended the conference and insurmountable amount of neither one of them have HHT. What a testimony of family bond and tragedy in her family. She and all commitment . . . Ethel and her brother-in-law, Cliff, invested a lot of time of her siblings have HHT, along into learning more about this genetic family disorder. with her nieces and nephews. “My son, Robert, died in 2005 and my 11 year old, Sabrina, has AVMs in her brain, lungs, Family Volunteering Together and liver. I have it in my lungs, The key element to a successful liver, and GI but not in my conference is volunteers, especially brain.” Many of Adriana’s family when the conference location is members have died, suffered somewhere other than Monkton, MD. strokes, or experienced severe Sandy Lurie and Daryl Anisfeld are Adriana Vera with her daughter, Sabrina, and disability from this disorder. like family. They have known each brother-in-law, Yasuo Ito. Adrianna and her brother-in-law, other for years, raised their children Yasuo, attended this conference together, and only recently found out with her daughter to learn as much as they could about this disorder in that they both have HHT. Sandy and an attempt to alter the devastating medical history of their family. “My Daryl worked together to coordinate daughter and I met a lot of good people in Chicago. I would like to help the auction activities in Chicago. in any way I can. The loss of my son haunts me everyday. Now I am in However, each of them solicited the same battle with Sabrina.” the help of their family to make the event come together. Sandy and her husband, Art, donated a portion of Sandy Lurie and Marianne Clancy the conference promotional items, Family Needing Knowledge and Answers gathered volunteers to stuff all of Ann Weaver is an the conference bags, and organized Immunization Nurse several live/silent auction items. In Consultant whose addition, their daughter, Lindsey, husband has HHT. helped decorate and organize the Ann has six children. silent auction tables for the gala “My 20 year old on Saturday night. Daryl and her son has some heart husband, Mike, collected all of the problems and I am so auction items at their home and curious if HHT could transported them to the conference. have something to do They also designed, printed, and with it. His twin sister packaged the Tribute Greeting Cards has always had sharp mentioned in this newsletter in an Ann Weaver with two of her six children pains in her right side effort to raise awareness and money and I wonder if she for the Foundation. could have telangiectasias or something in her intestines. My 10 year Thank you to both families for old has frequent nosebleeds and two of my triplets have telangiectasias making this conference a success on so visible on their face and hands.” As you can see, it was very important many levels! to Ann that she and two of her daughters come to this year’s conference. Daryl Anisfeld and Marianne Clancy HHT is a family affair and we wouldn’t want it any other way! HHT: Osler-Weber-Rendu Direct Connection
    • Direct Connection HHT: Osler-Weber-Rendu
    • Thank you to Travis C. Berry, grandson of David and Clara Bartley Jordan, for volunteering to take photographs throughout the conference. Travis C. Berry does not have HHT, instead, he suffers from spina bifida. However, Travis’ mother, Mary Berry, comes from an HHT family. She is the daughter of David and Clara Bartley Jordan who left a portion of their estate to the HHT Foundation which is now funding an Epistaxis Research Grant. Dr. Jeffrey Hoag, principle investigator at Drexel University in Philadelphia, PA, is developing a standardized epistaxis severity score that will help determine the viability of new epistaxis therapies. HHT: Osler-Weber-Rendu Direct Connection 11
    • HHT for Clinicians Conference - Hereditary Hemorrhagic Telangiectasia (HHT): Diagnosis, Treatment and Management Nicole Schaefer, Director of Operations Education, Education, of Medicine, planned and implemented this Education. That was our accredited physicians training program. theme for 2008. It started The “HHT for Clinicians” conference was with the CDC Conference a one-day event that ran concurrent with in March and continued the Patient Conference. It was designed through the first every for medical professionals who are likely to Accredited Physician encounter HHT patients, among them: internal Conference. The clinicians medicine, otolaryngology, gastroenterology, that attended this important educational event cardiology, interventional radiology, will impact the lives of thousands! neurology, genetic counseling, and nursing. comprehensive conference that the HHT One of the most devastating statistics The program provided information that is Foundation has ever presented to the medical in HHT is that 9 out of 10 of the HHT critical to the clinician who is interested in community! population (68,000 US citizens) are not yet starting a new HHT practice or expanding Although the HHT for Clinicians Conference diagnosed due to the widespread lack of an existing HHT practice. There were was a one-day event, two-thirds of the knowledge by medical professionals. This presentations from HHT physicians from participants decided to join the Patient and deficiency in the medical community can every HHT Center of Excellence in North Family Conference and stay through the have catastrophic affects (i.e., stroke, disability America, as well as leading experts from weekend. The interaction with other HHT or death) on an HHT family. In an effort to Europe. Topics included, but were not limited specialists, patients, and their families was increase the identification of HHT through to, genetics of HHT; HHT diagnosis, treatment an invaluable benefit of their experience. We proper diagnosis and reduce the instance and management for adults and children; are excited to have these individuals join of mismanagement of the disorder, the management of anemia; medical treatment our community and look forward to their HHT Foundation, in conjunction with the of epistaxis; and current research advances continued involvement in HHT. Northwestern University Feinberg School and opportunities. This was, by far, the most To the clinicians who participated in this conference, thank you for your willingness to learn about HHT. To the physicians and researchers who volunteered their time, we truly appreciate your selfless commitment to the HHT Foundation and its community of patients and medical care providers. To Dr. David Green, Professor of Medicine, Division of Hematology/Oncology at Northwestern University Feinberg School of Medicine (NWFSM), and the staff at the Northwestern University Office of Continuing Medical Education, we express our profound gratitude. It is our hope and desire that this relationship continues to grow as we expand our medical education programs. The HHT Foundation International would like to thank a number of individuals and corporations who have contributed to the success of our first HHT Clinician Conference. GOLD SPONSOR - Cook, Inc. Since 1963, Cook has been a leader in developing health care devices that have improved lives Upon conclusion of the conference, participants around the world. With sales and marketing offices worldwide, they are at the forefront of medical research and product development in minimally invasive medical device technology will be able to: for diagnostic and therapeutic procedures. 1. Define and describe the diagnostic criteria for HHT EDUCATIONAL GRANT - Gilead Sciences, Inc. 2. Discuss and identify treatment options for Gilead Sciences, Inc. is a research-based biopharmaceutical company that discovers, develops and commercializes innovative medicines in areas of unmet need. With each new discovery Pulmonary and Cerebral AVM and experimental drug candidate, they seek to improve the care of patients suffering from life- 3. Discuss and identify treatment options for threatening diseases. Epistaxis 4. Discuss and identify treatment options for PROGRAM DESIGNERS AND PRESENTERS Gastrointestinal and Liver AVM Diane Aschman James Gossage, M.D. Karen Swanson, DO 5. Discuss and demonstrate new potential Elisabetta Buscarini, M.D. Michelle Letarte, Ph.D. Andrew White, M.D. Marie Faughnan, M.D, MSc. Paul Oh, Ph.D. Robert I. White, Jr., M.D. therapies for the management of refractory Urban Geisthoff, M.D. Reed Pyeritz, M.D., Ph.D. HHT complications A special thank you to Dr. James Gossage for his coordination of this very successful conference. Direct Connection HHT: Osler-Weber-Rendu
    • HHT Treatment Centers Around the World NORTH AMERICA USA Washington University School University of Pennsylvania CANADA Montreal HHT Center Yale University School of Medicine of Medicine Philadelphia, PA Toronto HHT Center CHUM, Hotel Dieu New Haven, CT St. Louis, MO 215-662-4740 University of Toronto 514-890-8000 local 15672 203-737-5395 (Adults) 877-888-5864 or www.uphs.upenn.edu/penngen Toronto, Ontario www.hhtavm.org 314-454-8717 416-864-6060 ext. 2407 (Pediatrics) 888-503-2237 Mayo Clinic HHT Center hhttoronto.com University of Utah hht.im.wustl.edu Rochester, MN Salt Lake City, UT 507-266-0416 Pediatric HHT Clinic Toll Free 866-292-4HHT (4448) University of California Medical www.mayo.edu Hospital for Sick Children healthcare.utah.edu/hht/ Center Toronto, Ontario San Diego, CA Medical College of Georgia 416-813-5837 Oregon Health & Science University 888-770-0296 Augusta, GA Portland, OR www.ucsdir.org 706-721-6791 Edmonton HHT Centre 503-494-7660 or www.mcg.edu/som/medicine/ University of Alberta 888-222-6478 ext. 7660 Pulmonary/PulmVasDis.htm 780-407-1479 www.ohsu.edu/hht INTERNATIONAL CHINA Hull Royal Infirmary GERMANY HOLLAND ITALY NORWAY The First Affiliated Hospital Hull Krankenhaus Holwiede St. Antonius Ziekenhuis U.O. di Gastroenterologia Rikshospitalet University of China Medical University 44 (0) 1482-674608 Kliniken der Stadt Koeln Nieuwegein ed Endoscopia Digestiva Hospital, Oslo Shenyang www.hey.nhs.uk/hht Cologne 31.30.609.9111 Ospendale Maggiore, Crema 47-2307-5593 86-24-83282447 49-221-8907-12727 www.renduoslerweber.nl 0039.0373.280422 / 280726 FRANCE SPAIN DENMARK Hospital Ambroise Pare University HNO-Klinik IRELAND University of Bari, Bari Hospital Sierrallana Odense University Hospital Boulogne Billancourt D-66421 Homburg/Saar Mercy University Hospital 39.080.5478708 Torrelavega (Cantabria) Odense Cedex 33-0140-94432 49-221-8907-12727 Cork www.hht-italia.com 34-942-84740 (8053) 353-21-2305040 Service De Genetique Philipps-University Marburg JAPAN ENGLAND Hotel Dieu, Lyon Marburg ISRAEL Akita University Hammersmith Hospital Cedex 02, 4-72-413295 49-6421-2866808 Schneider Children’s Medical Center London Medical Center of Israel Akita 44.208.383.3269 Karl-Hansen Medical Center Tel Aviv 81-18-834-111 ext. 6531 Bad Lippspringe 972-3-9253654 49-5252-954302 HHT Patient Support Groups North American Genetic Laboratories US, INTL GERMANY ITALY (NORTHERN) Ambry Genetics HHT Solutions, Inc. University of Pennsylvania HHT Foundation www.mobus-osler.de www.informazioni@hht.it Aliso Viejo, CA Toronto, Canada Philadelphia, PA International 866-262-7943 416-603-5597 215-573-5940 800-448-6389 IRELAND ITALY (SOUTHERN) www.ambrygen.com www.hhtsolutions.org www.med.upenn.edu/gdl// www.hht.org www.gracenolan.com www.hhtonlus.com ARUP Laboratories Molecular Genetics ENGLAND ISRAEL SPAIN Salt Lake City, UT Laboratory www.telangiectasia.co.uk Meira Heiman at www.asociacionhht.org 800-242-2787 ext. 3179 The Hospital for Sick Children hht_issg@yahoo.com or www.aruplab.com Toronto, Canada FRANCE heimann@netvision.net.il 416-813-6590 www.amro-france.org www.sickkids.ca/molecular/ HHT at a Glance for Health Care Providers This information can be photocopied and taken to your local physicians, pediatricians & dentists. It is also available at www.hht.org Hereditary Hemorrhagic Telangiectasia (AKA Osler-Weber-Rendu) is a multi-system 90-95% develop at least a few telangiectasia on the skin of the face and/or hands by vascular dysplasia. middle age, but they can be pin point in size. It is uncommon, but not rare. Approximately 1.2 million people worldwide have HHT. 20% develop significant gastric or intestinal bleeding, but not usually before the decade Telangiectases and arteriovenous malformations (AVMs) are the characteristic lesions. of the 50’s. HHT has extremely variable expression in terms of both location of lesions and severity 30% have pulmonary arteriovenous malformations (AVMs). of symptoms. 10-15% have at least one cerebral AVM. It is frequently misdiagnosed in affected individuals. An unknown percentage have hepatic AVM. The most commonly affected organs are nose, lungs, GI tract, brain and liver—in that The severity of epistaxis or telangiectases of the skin does not correlate with the order. likelihood to have internal (i.e. Cerebral or pulmonary) AVMs. HHT is an autosomal dominant genetic disorder. Severity and symptomology varies tremendously, even between close relatives. Denovo mutations are rare. A detailed family history shows most cases to be familial. Untreated pulmonary AVMs are a common cause of ischemic stroke and brain abscess HHT is heterogeneic. Defects in two separate genes are known to cause HHT. in HHT families. 90-95% of individuals with HHT will develop epistaxis by adulthood, but severity Untreated cerebral AVMs are a common cause of hemorrhagic stroke in HHT families. varies from infrequent and minor to daily and severe. Treatments are available for all manifestations of HHT and have evolved significantly in the last decade. HHT: Osler-Weber-Rendu Direct Connection 13
    • How Can You Help the HHT Foundation International? 15 EASY WAYS TO GIVE BECOME A MEMBER! MAKE USE OF UNITED WAY, 11. www.iGive.com— Shop 735 participating online stores with products for home or office (or gift cards) via this charitable 1. Renew your HHT Foundation membership each year. You can COMBINED FEDERAL CAMPAIGN, website and a percentage of each purchase can be forwarded on automatically renew by credit card and avoid receiving renewal notices and mailing checks. OR OTHER GIVING PROGRAMS! to the Foundation. New iGive members earn extra money for their cause (HHT) just for joining. 8. If your workplace has a United Way campaign, think of the 2. Gift Memberships are a wonderful way to support the Foundation when you plan your giving. If you are in the U.S. military 12. www.morethancards.com/give— Foundation while keeping family members or health care providers or a Federal employee, the CFC works just the same way. Use the The holidays are quickly approaching and we all need cards. A informed. Foundation’s CFC number to designate the HHT Foundation as the percentage of the price of each card purchased is donated to the beneficiary of your payroll deduction program. CFC Number: 10233 Foundation. Just click on the HHT logo under “Our Supported Foundations” and you’re on your way. DONATE! USE THESE WEBSITES 13. www.justgive.org or 3. General Donations— Give whatever you can to support the Foundation’s overall mission of education, advocacy, patient We have established several partnerships with websites / organizations www.americanexpress.com/give— that provide a portion of their profits or sales to the HHT Foundation. We support, and research towards a cure. You can easily donate to the Foundation via these websites. all shop online or search the internet. Did you know you could earn money The American Express Program even lets you use your for the Foundation doing these activities? We’re not asking you to buy or 4. Annual Appeal— Every December you will receive an Rewards Points to give! search for things you don’t need, but if you are going to search or shop Annual Appeal letter. Every gift counts! Does your company have a online, please try the sites listed below. If every member began to use one matching gift program? If so, you can double your contribution. or more of these sites on a regular basis, the money raised would increase GET INVOLVED! exponentially. Give it a try! 5. Tributes— Consider making a tax-deductible donation to the 14. Plan a Fundraising or Awareness Event— HHT Foundation in honor of your loved one’s birthday or anniversary. 9. www.goodsearch.com/ You can plan an event any time of the year. Contact Sharon Williams And, as the holidays roll around, how about honoring your friends www.goodshop .com— Set GoodSearch.com as your at 800-448-6389 or by email at sharon.williams@hht.org. and family with a tribute gift. We will notify the honoree and let home page default. GoodSearch is a search engine powered by them know of your generous contribution. Yahoo that donates 50% of its revenues to the charities and schools 15. Volunteer Your Time— The HHT Foundation is always designated by its users. Spread the word to your friends and family looking for volunteers to help start a Regional Networking Alliance, 6. Memorials— Consider a donation to HHT Foundation in lieu and ask them to put www.goodsearch.com as their internet home help with events, serve on the Board of Directors, or assist with your of flowers to remember a loved one. page default. The more people use GoodSearch, the more money specific skills. Your time is a valuable contribution to the Foundation! will be directed toward HHT. you can now shop on www.goodshop. 7. Name the HHT Foundation in Your Will— com at stores like Target, Best Buy, Walmart, LL Bean and many 16. Tell Someone About HHT— It’s that simple! Share Call the Foundation office for more information. more. Your purchase will earn .5%-4% of the purchase price which HHT Foundation materials, our number (800-448-6389), our website will be donated to the charity of your choice (i.e., HHT Foundation). address (www.hht.org), our list of HHT Treatment Centers with family, friends, physicians, and dentists. Educate everyone you can! 10. www.donationline.com/hht.htm— This website will accept donations for automobiles, boats, trucks, RV’s, motorcycles, jet skis, snowmobiles, planes, and real estate. GLOBAL RESEARCH AND MEDICAL ADVISORY BOARD Carmelo Bernabeu, Ph.D. Elisabetta Buscarini, M.D. Shelley Kennedy, M.S. Franklin J. Miller, M.D. Douglas Ross, M.D. Chair Ospedale Maggiori (Gastroenterology/Hepatology) Children’s Hospital of Eastern Ontario University of California, San Diego St. Vincent’s Hospital (Otolaryngology) Centro de Investigaciones Biologicas (Biochemistry) Piacenza & Crema, Italy (Genetic Counselor) (Interventional Radiology) Bridgeport, CT Madrid, Spain Ottawa, Canada San Diego, CA Mark Chesnutt, M.D. Carlo Sabba, M.D. Jamie McDonald, M.S., C.G.C. Oregon Health and Science University (Pulmonology) Anette Kjeldsen, M.D. Christine Mummery, Ph.D. University of Bari (Gastroenterology/Hepatology) Vice Chair Portland, OR Odense University Hospital (Otolaryngology) Hubrecht Laboratory (Scientist) Bari, Italy University of Utah (Genetic Counselor) Odense, Denmark Utrecht, The Netherlands Salt Lake City, UT Urban Geisthoff, M.D. Claire Shovlin, M.D., MA, FRCP, Ph.D. Univ. HNO-Klinik (Otolaryngology) Michelle Letarte, Ph.D. Suk Paul Oh, Ph.D. NHLI/Imperial College (Pulmonology) Marie Faughnan, M.D., Saar, Germany The Hospital for Sick Children University of Florida (Scientist) London, U.K Chair Emeritus (Immunology / Scientist) Gainesville, FL St. Michael’s Hospital (Pulmonology) Daniel Goodenberger, M.D. Toronto, Canada Dennis Sprecher, M.D. Toronto, Canada Dallas VAMC (Pulmonology) Daniel Picus, M.D. GlaxoSmithKline (Cardiology / Board Liaison), Dallas, TX Susan Lewin, M.D. Washington University School of Medicine King of Prussia, PA Peter B. Terry, M.D., University of Utah (Medical Genetics) (Interventional Radiology) Past Vice-Chair Alan Guttmacher, M.D. Salt Lake City, UT Clayton, MO Karel G. TerBrugge, M.D., FRCP. (C) The Johns Hopkins Hospital (Pulmonology) National Institutes of Health (Medical Genetics) University of Toronto (Interventional Neuroradiology) Baltimore, M.D. Washington, D.C. Dean Li, M.D., Ph.D. Henri Plauchu, M.D., Ph.D. Toronto, Canada Eccles Institute of Human Genetics/University of Hotel Dieu (Medical Genetics) Robert I. White Jr., M.D., Timothy Hla, Ph.D. Utah (Scientist) Lyon, France Calvin Vary, Ph.D. Chair Emeritus University of Connecticut Health Center Salt Lake City, UT Maine Medical Center Research Institute (Scientist) Yale University School of Medicine (Scientist) Mary Porteous, M.D. Pine Point, ME (Interventional Radiology) Farmington, CT Jose Miguel Lopez-Novoa, Ph.D. Western General Hospital (Medical Genetics) New Haven, CT University of Salamanca (Scientist) Edinburgh, U.K. C.J.J. Westermann, M.D., Ph.D. Luisa Iruela-Arispe, Ph.D. Salamanca, Spain St. Antonius Ziekenhuis (Pulmonology) Joyce Bischoff, Ph.D. Molecular Biology Institute -UCLA (Scientist) Deborah Proctor, M.D. Nieuwegein, The Netherlands Harvard Medical School/Children’s Hospital Boston Los Angeles, CA Hans Jurgen Mager, M.D., Ph.D. Yale University School of Medicine (Scientist) St. Antonius Ziekenhuis (Pulmonology) (Gastroenterology/Hepatology) Lawrence Young, M.D. Boston, MA James Jackson, M.D., BS, MRCP, FRCP Amersfoort, The Netherlands New Haven, CT Yale University School of Medicine (Cardiology) Hammersmith Hospital (Interventional Radiology) New Haven, CT Murray Brilliant, Ph.D. London, U.K. Douglas A. Marchuk, Ph.D. Reed Pyeritz, M.D., Ph.D. University of Arizona Duke University (Molecular Genetics / Scientist) University of Pennsylvania School of Medicine (Molecular Genetics / Board Liaison) Durham, NC (Medical Genetics) Tucson, AZ Philadelphia, PA 14 Direct Connection HHT: Osler-Weber-Rendu
    • SCIENTIFIC AND MEDICAL UPDATE New HHT Genetic Testing Laboratory Ambry Genetics We are pleased to announce that effective 2-4 weeks for a proband. July 1, 2008, Ambry Genetics began to offer Steve Keiles, Director of Genetic Services HHT Genetic Testing in North America. at Ambry Genetics, attended the HHT CDC Ambry Genetics Conference in March 2008. As the President- is located in Elect for the National Society of Genetic Aliso Viejo, CA Counselors, Mr. Keiles was inspired by the and they are the information presented at the HHT Health primary genetic Initiatives for the 21st Century Conference. testing service for cystic fibrosis, pulmonary During that meeting, it became clear to him arterial hypertension, and many other genetic that his organization could play an active role disorders. This laboratory is now able to test in increasing the identification of those affected for HHT1, HHT2, and Juvenile Polyposis by HHT. Within months, Ambry Genetics was Dr. Douglas Ross, (SMAD4). The vast majority of testing done at actively processing HHT samples! Thank you our esteemed colleague Ambry is covered by insurance and they offer for your enthusiasm and commitment to this who has pioneered insurance pre-verification. Ambry Genetics disorder. many therapies for can work with HHT Centers or primary care nosebleeds associated physicians. Their pricing is competitive with For more information, please visit their website at with HHT, has other laboratories and their turnaround time www.ambrygen.com or call 866-262-7943. accepted a position ranges from 10 days for a family mutation to at St. Vincent’s Hospital in Bridgeport, Connecticut, as North American Genetic Testing Laboratories Chairman of the Department of Surgery. St. Vincent’s is within twenty minutes Ambry Genetics HHT Solutions, Inc. University of Pennsylvania of the Yale campus and Dr. Ross will Aliso Viejo, CA Toronto, Canada Philadelphia, PA remain a vital part of our HHT team. 866-262-7943 416-603-5597 215-573-5940 Beginning in November 2008, he resumed www.ambrygen.com www.hhtsolutions.org www.med.upenn.edu/gdl// his specialized care for patients with ARUP Laboratories Molecular Genetics Laboratory HHT in his new location. If you have any Salt Lake City, UT The Hospital for Sick Children questions, please call the Yale HHT Center 800-242-2787 ext. 3179 Toronto, Canada of Excellence at 203-737-5395 or email us at www.aruplab.com 416-813-6590 katharine.henderson@yale.edu. www.sickkids.ca/molecular/ Drug Safety Alert Phenylpropanolamine The Food and Drug Administration (FDA) ingredient by looking for “phenylpropanolamine” in the list of active is issuing a public health advisory concerning ingredients on the label. Consumers can check with their health care phenylpropanolamine hydrochloride. This drug provider or pharmacist to see whether their prescription cough-cold is widely used as a nasal decongestant (in over- or nasal decongestant product contains phenylpropanolamine. The the-counter and prescription drug products) FDA advises consumers to discuss alternative over-the-counter and and for weight control (in over-the-counter prescription products with their health care providers or pharmacists. drug products). FDA is taking steps to remove According to Dr. James Gossage, HHT Foundation Medical Director, phenylpropanolamine from all drug products “It has only been associated with intracranial bleeding and HHT and has requested that all drug companies patients with cerebral AVM(s) would likely be at increased risk. HHT discontinue marketing products containing patients using this drug are not at risk of bleeding anywhere else.” phenylpropanolamine. A recent study reported that taking For more information, go to: www.fda.gov/CDER/drug/infopage/ppa/advisory.htm phenylpropanolamine increases the risk of hemorrhagic stroke (bleeding into the brain or into tissue surrounding the brain). Although the The following medications contain Phenylpropanolamine. risk of hemorrhagic stroke is very low, the FDA’s This is not a complete list. Check your medication labels or contact your physician. Nonprescription Drugs Advisory Committee (NDAC) determined that there is an association between phenylpropanolamine and hemorrhagic Acutrim Dietary products Dimetapp Cold products stroke and recommended that phenylpropanolamine not be considered Alka-Seltzer Plus products Robitussin CF safe for over-the-counter use. BC allergy & sinus Tavist-D In the meantime, consumers can identify over-the-counter cough- Contac Cold products Triaminic Cold products cold, nasal decongestant, and weight control products containing this Dexatrim products HHT: Osler-Weber-Rendu Direct Connection 15
    • SCIENTIFIC AND MEDICAL UPDATE HHT Health Initiative for the 21st Century CDC Conference Update Nicole Schaefer, Director of Operations In March 2008, the HHT Foundation The CDC invited their Regional held its first collaborative meeting Hemophilia Treatment Center (HTC) with the Centers for Disease Control Directors to attend the meeting in and Prevention (CDC). The goal of March. Of the eight centers that this conference was to define and participated in the meeting, two have prioritize ways to improve clinical started to educate their staff about outcomes, enhance the quality of life the incidence, symptoms, treatment for those affected by HHT, and reduce of HHT. Indiana University and intrinsic and extrinsic costs related to University of North Carolina, Chapel HHT treatment. We have achieved Hill hemophilia centers are starting extraordinary accomplishments to identify HHT as calls and patients during the last nine months through come into their facility. The Directors the partnerships that were made at of both HTCs have contacted Dr. this conference. We truly appreciate Gossage, HHT Foundation Medical the enthusiasm, support, and Director, about becoming an HHT continued commitment that these Treatment Center of Excellence. We individuals, professional associations, are excited about the possibilities and companies have made on behalf of partnering with Hemophilia of the HHT Community. Thrombosis Centers throughout the Dr. Leonard Valentino, Associate Professor of Pediatrics/ United States. Internal Medicine at RUSH University and President of the This year, the 14th Patient and Family Conference provided Hemophilia and Thrombosis Research Society (HTRS), arranged workshops on key issues facing families affected by HHT. Tia for the HHT Foundation to be an exhibitor at their 2008 Annual Campbell, RN, MSN, NCSN from the National Association Scientific Symposium in Chicago, IL on April 17-19th. Marianne of School Nurses attended the CDC meeting in March and Clancy, Executive Director, and Nicole Schaefer, Director of graciously agreed to lead a workshop on Helping Your Child’s Operations, will represent the Foundation, present an educational School Understand HHT. In addition, Ella Hushagen, Health poster on HHT, and provide HHT literature to hundreds of Policy Analyst from FamiliesUSA, presented several informative Hematologists. workshops on medical insurance issues and resources. Ms. Through Dr. Valentino and the HTRS meeting, the HHT Hushagen went the extra mile and wrote a comprehensive article Foundation connected with Dr. David Green, Professor of for this newsletter that highlights the materials she distributed Medicine, Division of Hematology/Oncology at Northwestern during her workshop. University Feinberg School of Medicine (NWFSM). Dr. Green During the CDC meeting it was determined that, in order currently treats several HHT patients in the Chicago area and to increase our chances of receiving federal funding, the HHT agreed to sponsor our first accredited Physician Conference. Foundation needed a better understand the effectiveness and Typically, a training program of this magnitude takes eighteen economic impact of education, research, and treatment options for months to coordinate. However, through the tremendous efforts HHT and other vascular or genetic conditions. In this capacity, Dr. of Dr Green, the staff at Northwestern University and the HHT Reed Pyeritz’ team at The University of Pennsylvania CIGHT Foundation, along with our HHT specialists that agreed to present study (which is explained in detail on page 19) will be collecting at the conference, this program was completed within five months! and analyzing data for four research projects, one of which is The Continuing Medical Education (CME) conference was very specific to HHT. Specifically, they will be examining the utilization well received by the 25 attendees. Now, the Foundation has a & impact of a new diagnostic test for HHT. template program and relationship with NWFSM that can be Finally, in order to advance the HHT Initiative into the 21st repeated across the country. Century, there is a critical need for the development of an HHT Dr. Valentino also wrote an article entitled, “Blood Flows Physician Registry and a national database of HHT patients. Everywhere: Hereditary Hemorrhagic Telangiectasia” that was The HHT Foundation is currently working with individuals in published in the American Academy of Pediatrics News journal. the HHT Community to determine the basic structure, purpose, Dr. Valentino’s article describes with great detail the diagnostic and cost associated with the development of these two database criteria for HHT, the manifestations of HHT, and the genetics of systems. This project is a work in progress. the disorder. He went on to reference the CDC meeting and the It is with sincere thanks and appreciation that we highlight these importance of timely diagnosis and treatment. We applaud Dr. individuals and their activities with the HHT Foundation. We are Valentino for his initiative and desire to make more pediatricians constantly creating new relationships which, in turn, present new aware of HHT. opportunities for us to pursue. We look forward to what 2009 has Steven Keiles, MS, CGC, Director of Genetic Services at Ambry to offer! Genetics, attended the CDC meeting and immediately recognized how his organization could play an active role in increasing the identification of those affected by HHT. Ambry Genetics is now performing genetic tests for HHT1, HHT2, and Juvenile Polyposis (SMAD4). 16 Direct Connection HHT: Osler-Weber-Rendu
    • SCIENTIFIC AND MEDICAL UPDATE Young Investigator Grant Awarded to Pinar Bayrak-Toydemir, M.D., Ph.D. It is with great pleasure that we congratulate Dr. of those submitted and in the words of the evaluators, “We were Pinar Bayrak-Toydemir for her award of $20,000 impressed by the commitment of the applicant to the field of HHT for the 2008 Young Investigators Grant sponsored research, the research environment, and the design of the study. by the HHT Foundation International. Dr. Bayrak- Investment in this work may lead to the identification of a fourth HHT Toydemir’s research is seeking to identify a caus- causing gene.” ative mutation, gene, or loci in patients/families Dr. Bayrak-Toydemir is the Associate Medical Director of the with HHT for whom linkage to HHT1 and HHT2 Molecular Genetics Laboratory at ARUP. Dr. Bayrak-Toydemir received loci have been excluded. Her proposal is focused her M.D. from Ankara University School of Medicine in Ankara, on the discovery of gene(s) not yet identified as a Turkey, where she also received her Ph.D. in Human Genetics. As molecular cause for the HHT disease. Her study is a second year Assistant Professor of Pathology at the University of designed to identify molecular genetic character- Utah, she states, “It is an honor to be the recipient of the 2008 Young istics of the HHT disease. The results of this research will provide new Investigator’s Grant sponsored by the HHT Foundation International. I insight into blood vessel development by adding one piece to the puzzle will work hard to find the fourth HHT-causing gene!” that represents the current understanding of vascular development and Thank you, Dr. Bayrak-Toydemir, for your dedication to HHT and dysfunction. This information will also be important for molecular diag- determination to find the molecular cause of this disorder. We are nosis of HHT patients and identification of at risk family members. proud to have you on our team and look forward to hearing about your Dr. Bayrak-Toydemir’s proposal was deemed the strongest of all findings. RESEARCH UPDATE NATIONAL HUMAN GENOME RESEARCH INSTITUTE Human Blood Vessels Alan E. Guttmacher, M.D., Grown in Mice Becomes NHGRI’s Acting Director Excerpt from BBC News Geneticist Will Lead Efforts to Bring the Promise of Genomic Science to Health Care Dr. Joyce Bischoff, Scientist at Harvard Medical School and member Alan Edward Guttmacher, excellent leadership for the of the HHT Foundation Global Research and Medical Advisory Board M.D., a nationally recognized institute, as well as participating (GRMAB), recently conducted a study that was published in the pediatrician in many trans-NIH efforts. His journal Circulation Research, uses two types of “progenitor” cells, and medical service as Acting Director at which have the ability, like stem cells, to form different cell types. In geneticist NHGRI will ensure a seamless this case, the “endothelial” progenitor cells have the ability to form who has transition,” said National the cells which line blood vessels, while “mesenchymal” progenitor played major Institutes of Health (NIH) cells can form the cells adjacent to this lining, which help to support leadership Director, Elias A. Zerhouni, M.D., it. These progenitor cells were mixed together in growth-promoting roles at the in naming Dr. Guttmacher to the chemicals in the laboratory, then implanted into mice whose immune National post. “I am sure that you will systems had been weakened. Within seven days, a “vigorous Human join me in offering thanks and network” of new vessels formed, joined up with the host animal’s Genome good wishes to Francis, as well blood vessels, and started transporting blood. The ability to develop Research as offering Alan full support swiftly a new network of tiny blood vessels known as capillaries, Institute as he takes on the additional would be a prize for scientists. There are dozens of potential (NHGRI) for nearly a decade, responsibilities of guiding applications in medicine, particularly in the treatment of conditions became Acting Director of NHGRI NHGRI.” which involve damage to a tissue’s blood supply, such as that to the on Aug. 2, 2008. He replaces In addition to his involvement in heart muscle following a heart attack. Francis S. Collins, M.D., Ph.D., spreading the word of genomics Dr. Joyce Bischoff, who lead the research team, said, “What’s really who stepped down after 15 years among health professionals, Dr. significant about our study is that we are using human cells that can at the helm of NHGRI to pursue Guttmacher is instrumental in be obtained from blood or bone marrow rather than removing and other professional opportunities. NHGRI’s efforts to reach out using fully developed blood vessels.” Dr. Alan Guttmacher is a highly to the public. He has overseen Dr. Nick Rhodes, from the UK Centre for Tissue Engineering at the valued member of the HHT NIH’s involvement in The U.S. University of Liverpool, said that the results were “interesting” and Global Research and Medical Surgeon General’s Family History “promising.” “Although this approach is not yet suitable for clinical Advisory Board and a long time Initiative, an effort to encourage use, it is interesting that they have demonstrated you have all the friend of the HHT Foundation. all Americans to learn about elements you need to create a functional network of capillaries from a He received the HHT Foundation and use their families’ health small amount of blood.” International Scientific Leadership histories to improve their health. This type of research provides a critical foundation for future science Award in 2006. It was Dr. In fact, you can print a copy of and clinical studies that could potentially alter the symptomatic Guttmacher that, together with this Family History Tool from progression of HHT. Thank you, Dr. Bischoff, for your creativity and Doug Marchuk, Ph.D., found the the HHT website, www.hht. determination to impact the development of blood vessels — the very first HHT gene. org, or from the NIH website heart of this disorder. “Dr. Guttmacher has provided http://familyhistory.hhs.gov/. HHT: Osler-Weber-Rendu Direct Connection 17
    • RESEARCH UPDATE Inspiring Advances in HHT Research Reprinted from Chicago Conference handouts — vascular lesions. Anti- oxidants are capable To date, the HHT Foundation has funded of blocking the effects 9 mechanism of disease research grants and of superoxide and can 2 treatment of disease research grants—six therefore be used in a have been completed, two are in progress, and disease model, when three have just been awarded – for a total of one suspects that $454,375! Each of these studies has taken HHT superoxide is causing to the next step in identifying, diagnosing, problems. and treating this disorder. The most recently You may recall completed studies are summarized below. from previous meetings that my Study: TGF- Activates eNOS and Regulates research team had Vasomotor Function by an Endoglin- and previously engineered ALK-1- Dependent Mechanism a mouse expressing Researcher: Michelle Letarte, PhD, Senior a single copy of Scientist, Molecular Structure and Function the Endoglin gene, Program, Hospital for Sick Children and called the Eng+/- or Professor of Immunology, Medical Biophysics heterozygous mouse, Dr. Michelle Letarte, Dr Guoxiong Xu, Allison Gregory and Dr Mirjana Jerkic and Pediatrics which is a model Amount Awarded: $50,000 for studies of HHT1. Similarly, Dr Paul Oh heterozygous mice. Summary: The Endoglin and ALK1 genes are engineered a mouse with only one functional Since the lung vasculature was normal at mutated in HHT1 and HHT2 respectively. The copy of the ALKI gene, referred to as the 3 weeks but abnormal from 8 weeks of age, Endoglin and ALK1 proteins are encoded by Alk1+/- or heterozygous mouse, a model we treated the mice with the anti-oxidant their respective genes and are the functional for HHT2. Recently, we have investigated Tempol in their drinking water, starting at molecules in the cells. Both proteins are the lung vasculature of the heterozygous 3 weeks and for a period of six weeks. At 9 found mostly in endothelial cells, which line mice to see whether any abnormalities could weeks, we examined the lung vasculature of the blood vessels. Endoglin and ALK1 in be detected and whether superoxide was the mice and tested all parameters described fact interact with one another at the surface implicated. We also tested if treatment with above. Our preliminary results suggest that of the cells and are therefore involved in an anti-oxidant, named Tempol, could prevent the anti-oxidant has a beneficial effect and is related molecular pathways. Both proteins the onset of disease manifestations in the able to prevent the rise in pressure and the are receptors for growth factors called TGF- 1 heterozygous mice. lung remodeling observed in the untreated and BMP9, which are very important for blood What we saw was quite surprising. We used heterozygous mice. vessel functions. Our studies have shown that several imaging techniques adapted for mice, The observation that anti-oxidant may Endoglin binds to an enzyme called eNOS including X-ray micro CT. This technique prevent the changes seen in the lung vessels (endothelial Nitric Oxide Synthase) which is requires perfusion of the lung vessels with of the mouse models of disease implies responsible for the production of Nitric Oxide an opaque substance (MicrofilTM), which that superoxide might be involved. We are, (NO). This NO is the most potent vasodilator flows from the arterial to the venous side, therefore, measuring the levels of superoxide and is responsible for blood vessel relaxation. through the capillary bed and allows vessel in lungs and plasma of the mice and expect We have also shown that TGF- 1 and BMP9 imaging. Therefore, one can detect potential higher superoxide in the untreated Eng+/- can stimulate eNOS and the release of NO, abnormalities in the vascular tree. The images and Alk1+/- mice and return to normal levels and therefore regulate this function of blood were comparable for 3 week-old heterozygous in the treated mice. We also want to know vessels. So under normal circumstances, and control mice, showing full perfusion if the superoxide is produced exclusively by there is a big complex in the endothelial cells from arterial to venous side and a normal eNOS or if other enzymes are implicated. Our comprised of Endoglin, ALK1 plus other capillary bed. However, in 8 week-old (adult) collaborators are pushing the resolution of receptors and the eNOS machinery. This large heterozygous mice, the central arteries were the X-ray micro CT and we hope to use this complex allows the blood vessels to dilate in dilated, the peripheral arterioles were much technique to screen the vasculature in different response to TGF- 1 and BMP9. less abundant and thicker and the venous mouse organs and monitor the effects of In HHT1, the cells have a mutation in the side was often not perfused. This suggested various treatments on blood vessel remodeling. Endoglin gene, and produce half the amount of increased vascular resistance, characteristic of Our future work is to test if the treatment of endoglin protein, as we showed previously. In pulmonary arterial hypertension. We measured adult mice with Tempol will in fact reverse the HHT2, the cells have an ALK1 mutation, and the right ventricular systolic pressure (a way pathological changes observed in the lung vessels make half the amount of the corresponding to assess pulmonary arterial pressure) and of adult Eng+/- and Alk1+/- mice. Anti-oxidants, ALK1 protein. As a consequence, the complex found that it was significantly elevated in the such as Tempol, may represent a novel therapeutic between TGF- 1 and BMP9 receptors, which adult Eng+/- mice relative to the control mice. model for HHT patients. “We are very grateful to requires Endoglin and ALK1, cannot form We also looked at lung sections from the mice the HHT Foundation International for awarding properly and is very unstable. This leads to and confirmed a reduction in the number us this grant and thank all of you for your an “uncoupling” of the eNOS machinery and of small peripheral arterioles and those had kind donations. Our daily efforts are devoted to production of more superoxide and less NO. thicker walls, again suggesting increased understanding the underlying mechanisms of HHT Superoxide is a damaging agent that oxidizes resistance to flow. Heart remodeling, which through basic research. We could not do it without proteins and lipids, interfering with their occurs subsequent to a rise in pulmonary your generous financial and moral support.” functions. This in turn may lead to initiation of vascular resistance, was also observed in older 18 Direct Connection HHT: Osler-Weber-Rendu
    • RESEARCH UPDATE Thank You For Answering Our Call to Get Involved in Research at The University of Pennsylvania Nicole Schaefer, Director of Operations problems of uncertainty. The overall goal of lecting and analyzing data for four research the Penn CIGHT is to develop tools that will projects, one of which is specific to HHT: help consumers, professionals, policy makers Utilization & Impact of a New Diagnostic and insurers understand and cope with the Test for HHT: an assessment from the perspec- Most, if not all, human scope of certainty and uncertainty that genetic tives of patients, providers and third party diseases have one or more technologies engender. The work of the center payers of the utility of a genetic test to identify genetic factors that contribute is conducted by teams of experts representing the likelihood of future disease susceptibil- to cause, likelihood of occur- a broad range of disciplines, such as medicine, ity, using HHT, a single gene disorder, as an rence, severity, and response bioethics, law, behavioral and social sciences, example, led by Barbara Bernhardt, Clinical to existing or experimental treatments. There clinical research, public policy, economics, and Associate Professor of Medicine. is a general perception that the ability to genetic and genomic research. We wanted to take this opportunity to thank define a person’s genetic makeup will lead As we mentioned in the Fall 2007 newslet- everyone that responded to our request to get to better health, improved treatments, and a ter, Dr. Reed Pyeritz, Director of the HHT involved in this critical research. This study better understanding of risks to other family Center of Excellence at The University of will not find a cure for HHT but it will provide members. However, many genetic technolo- Pennsylvania was awarded $5 million over five the statistical, disease impact data that we need gies increase uncertainty and confusion in the years from the National Institutes of Health to to get Washington’s attention! minds of patients, relatives, doctors, health form the Center for Integration of Genetic and insurers and others. Healthcare Technologies (Penn CIGHT) and to To learn more about the Penn CIGHT and the four The Penn CIGHT aims to define these issues study the certainty and uncertainty of results research projects, go to http://www.med.upenn.edu/ better and offer suggestions for reducing the from genetic testing. Dr. Pyeritz’ team be col- penncight/index.shtml. This summer, the HHT community lost a great supporter of HHT research and patient care. Dr. Pierre Lasjaunias was an active member of the HHT Global Research and Medical Advisory Board (GRMAB), a progressive leader in the diagnosis, treatment, and management of cranial AVMs in HHT patients, and a world renowned Interventional Neuroradiologist. In addition, Dr. Lasjaunais was a recur- ring speaker at HHT Patient and Family Conferences, a key contributor to the Consensus Guidelines Conference, and a true friend of the HHT Foundation International. Our condolences to Dr. Lasjaunais’ friends and family. — Written by Marianne S. Clancy, Executive Director Written by Karel G. terBrugge, MD Pierre Lasjaunias outstanding, resulting in the French govern- died from a massive ment’s designation of his Institution (Hopital Dear Colleagues, myocardial infarc- Bicetre) as a national center of excellence in tion on July 1st of this pediatric neurovascular disorders. I was deeply shocked and saddened to year. It occurred while Pierre’s natural tendency to be a leader result- learn of Pierre’s death. This sad occasion he was attending an ed in his involvement with many professional serves to remind us of how much Pierre executive committee organizations and he was the current President of the World Federation of Interventional has contributed to HHT in general and meeting of the world federation of neurora- and Therapeutic Neuroradiology and the to the Global Research and Medical diological societies in Editor in Chief of the Journal Interventional Advisory Board (GRMAB) in particu- Zurich. His untimely Neuroradiology. lar. I was fortunate enough to meet him death shocked the world of Neuroradiology as during the last meeting in Capri, Italy he had become one of the main driving forces Pierre, for many decades, had a special inter- and I will always remember his excellent in that specialty over the past few decades. His est in HHT and early on made observations that presentation on cerebro medulary lesions background had been a combination of neuro- proved to be very important in the endovascular in HHT. Pierre’s scientific and medical anatomy and neuroradiology which made him management of patients with that condition. He contributions are recognized worldwide imminently suitable for a career in interven- was proud to be associated with international and his death represents a great loss tional neuroradiology. He became one of the organizations specifically focused on improving awareness and management of patients with for the HHT community. On behalf of best teachers in his field and his dedication to teaching led him to organize annual courses in HHT disorder. In this sense, he was an active GRMAB, I would like to extend con- Europe and around the world that became the member of the Global Research and Medical dolences to Pierre’s family. He will be premier courses in interventional neuroradiol- Advisory Board of the HHT Foundation. greatly missed. ogy in the world. While his death left a large void that has Sincerely, His expertise included the most difficult impacted patients and colleagues alike, we must aspects of his specialty, pediatric neurovascular be grateful to his contributions that he made to Carmelo Bernabeu, Ph.D. diseases and spinal vascular malformations and the understanding of neurovascular disorders in GRMAB Chair his contributions in those fields were simply particular as they related to HHT. HHT: Osler-Weber-Rendu Direct Connection
    • CURRENT HHT RESEARCH STUDIES YOU can help advance HHT Research There are several HHT related research studies currently taking place. You or a family member may be interested in furthering the advancement of HHT research by participating in one of these clinical research studies. You can contact the primary researcher directly, call the HHT Foundation office at 800-448-6389, or visit the HHT website at www.hht.org. HHT and INTERFERON STUDY THALIDOMIDE STUDY Karen Swanson, DO Jim Gossage, MD Jim Gossage, MD Atul Kumar, MD Director, HHT Center Director, HHT Center Director, HHT Center of Excellence Assistant Professor of Medicine Mayo Clinic College of Medical College of Georgia Medical College of Georgia Stony Brook University Medicine (706) 721-6791 (706) 721-6791 (631) 261-4400 x5765 (507) 266-0416 Email: jgossage@mail.mcg.edu Email: akumar1165@yahoo.com This clinical research study is funded by the HHT Foundation Thalidomide and gastrointestinal bleeding: A research study is recruiting International and the Food & Drug Administration (FDA) HHT patients who have gastrointestinal bleeding and require blood Office of Orphan Products Development. This study will transfusions. This study will determine whether thalidomide reduces the determine whether Interferon reduces the affects of AVM in need for blood transfusions. This is a controlled study of oral Thalidomide in various organs. The Mayo HHT Center is actively recruiting/ patients with gastrointestinal bleeding due to telangiectasias in the stomach enrolling HHT patients who are between the ages of 18-70 and: and small intestines, many of whom will have HHT. The patients will be Are transfusion dependent; or monitored by physical exam and blood tests. Patients will be on Thalidomide Have liver involvement with HHT and heart failure; or for 24 weeks (six months). We will continue to monitor patients for 24 weeks Have diffuse lung involvement with low oxygen levels. after they stop taking Thalidomide. Eligible patients MUST: HHT and JUVENILE POLYPOSIS have received at least 4 units of blood transfusion in the past two years and Doug Marchuk, PhD be able to travel to one of the two study sites once a month for monitoring Scientist, Molecular Genetics (1) Medical College of Georgia or Duke University, Durham, NC (2) Northport VA in Long Island, NY (Sometimes the VA will make travel arrangements for patients to be Dr. Doug Marchuk has an ongoing laboratory research study sent to another VA for treatment) comparing HHT and Juvenile Polyposis. If you are interested in taking part in this study or just want to learn more about it, For more information: please contact: http://clinicaltrials.gov/ct2/show/NCT00389935?term=HHT&rank=25 Tracey Leedom, MS, CGC Certified Genetic Counselor Duke University VARIOUS CLINICAL TRIALS Email: tracey.leedom@duke.edu Phone: (919) 668-5335 You can check ongoing HHT clinical trials through the website www. clinicaltrials.gov. You must spell out Hereditary Hemorrhagic Telangiectasia in the search box. This website will not acknowledge the abbreviation HHT. Save 8th HHT International Scientific Conference A website, www.hht2009.com, has been established to facilitate registrations, hotel reservations, and abstract sub- missions. In addition, the website provides general informa- the tion about the city of Santander, the venue, and activities Every two years the for friends/family not attending the conference. This site is HHT scientific community updated on a regular basis with the latest news concerning gathers for an internation- Date the program and general details about the conference. al conference. This confer- The 8th HHT International Scientific Conference is spon- ence has grown from 40 sored in part by the Grace Nolan Foundation and the HHT scientists and clinicians in Foundation International. If you have any questions, you 1996 to over 150 partici- can contact Dr. Roberto Zarrabeitia by email at hht2009@ pants in 2007. The 2009 viajeseci.es , by telephone at 34-942847400 (8053), or by fax Organizing Committee at 34-942847501. has developed a program We look forward to seeing you in Spain this coming May! that will include a wide variety of topics with speakers and sessions devoted to the most recent medical advances in Organizing Committee: Carlmelo Bernabeu, PhD (Scientific HHT basic science, clinical research, and therapeutics. The Chair); Roberto Zarrabeitia, MD (Conference Host); Marie Organizing Committee is dedicated to attracting clinicians, Faughnan, MD, MSc.; Urban Geisthoff, MD; Paul Oh, PhD; researchers, and representatives of patient associations from Carlo Sabba, MD; James Gossage, MD; Marianne Clancy, around the world in order to advance HHT and enhance Executive Director, HHT Foundation International the lives of HHT patients. Direct Connection HHT: Osler-Weber-Rendu
    • Advocacy, Education, Fundraising: The Power of the Written Word By Arline Williams, HHT Foundation Member The Mission of the HHT Foundation is to educate, advocate, and support families affected by HHT while funding research and engaging the medical and scientific community. This is a large task and we cannot do it alone! In fact, the message is far more powerful, especially when presented to Congress, when it comes from those who live with this disorder on a daily basis. Arline Williams, an HHT Foundation member, saw the Long Beach Marathon fundraiser as an opportunity to educate her family, friends, and community while raising money for the Foundation. Ms. Williams spoke to her local newspaper and had an article published about HHT. She also reached out to those who know her by writing an honest and powerful letter about how this disorder has affected her life. I have HHT. It is extreme, and sooner rather than later, it will claim woman who walked 3-4 miles a day and was just learning horseback my life. If I can write an open letter telling of my experience and riding. I came to the realization I was, at the very least, hobbled by perhaps urging you to tenaciously seek early treatment of possible HHT. And it would be lifelong. This was mind-numbing. symptoms, then my time here will have been worthwhile. Perhaps, What I have written is not a litany of woes. It is to let you know the during your lifetime, prevention/cure for HHT will be developed. long path the HHT afflicted might travel. But, to participate in making that cure happen, I believe you first must Currently, I receive iron infusions every week, significant injections of listen to my story: Procrit® weekly, heart medications, a high dose of I am 64 years old. I suffered from nosebleeds diuretics and treatment for nosebleeds every 2-3 and arrhythmia in my 20s. I thought it was months. My liver is damaged and does not retain stress brought on by college and then by working iron so the infusions will be ongoing. The liver and raising a family. Then, about 8 years ago, I AVMs cannot be treated, and transplant is not developed a noticeable heart murmur. Cardiology an option. My heart has been severely damaged begins! Coronary symptoms escalated over the because not enough was known to treat my HHT. next 5 years. Irregular heart rhythm caused Yet, I am called a phenomenon by my doctors, shortness of breath (catheter ablation was done because my spirits are always high, and with unsuccessfully). Then cardiac catheterization treatment, I am able to maintain an unexpected followed. The specialist said there was a hole in my heart and could level of energy. But there are discouraging days too. What will happen be easily fixed. A solution! Then, he called and said “no hole”, but an when the symptoms overcome the known treatment? anomalous pulmonary vein…a birth defect! But no; the next diagnosis Please remember HHT is genetic, and never skips a generation. Many, was leaking mitral and tricuspid valves. But I was denied surgery to still unaware, will be touched by it. Many unborn children will have fix them. My cardiologist said my symptoms didn’t “line up.” All it. Research is the only way we can break through to the other side, so this time my heart function was deteriorating, and the right side was no one must ever again live under the cloud of a condition of unknown being overworked and enlarging. Three years ago, I was sent to a heart progression, forced to play the roulette of symptom management. transplant clinic as a candidate. I was scared. This was BIG surgery. I am honored to write a letter that may promote the further research The punch line was, “You are not a transplant candidate, because you and development of a viable cure for HHT. have HHT!” In that moment, all of the symptoms I’d experienced over the years came into focus! I am supported by the love and strength of my family. They are the During the next three years, I had a serious intestinal surgery, and best. One of my sons will be running for HHT in the Long Beach bled abnormally, producing a life threatening situation. I returned to Marathon, to show his support of me and others with HHT. I know you the hospital to receive a very large transfusion. (I have had 3 more since are not all runners, but you CAN help by contributing even $10 to help then.) I was also admitted to the hospital when I turned blue from us reach our goal of 3K. excessive fluid in my lungs. I began to suffer from malnutrition because my liver was enlarged and not giving my stomach enough room to Sincerely, and with great hopes for the future, hold much food. Enlarged heart, small stomach, enlarged liver, profuse nosebleeds, fatigue…who is this person? It couldn’t be the robust Bless you Arline, for sharing your story, encouraging others, and realizing that the only way to battle the progression of this disorder is to better understand HHT through continued research. We encourage more members to write letters like this to their family members to encourage screening and prevent death or disability. We encourage members to write letters like this to their Congressmen so that HHT can receive the federal funding it rightly deserves. And, we encourage members to write letters like this to their friends and community leaders in an effort to raise awareness of HHT, increase identification of the disease, and hopefully, raise money to continue the work of the HHT Foundation. If you have a story to share that can benefit others who are struggling to convince family members about the impact of this disorder, please contact the HHT Foundation at nicole.schaefer@hht.org. We can possibly share your story in the newsletter or on the website. HHT: Osler-Weber-Rendu Direct Connection
    • From the Membership Desk… The HHT Foundation has a plan! A plan that We have heard it said that the cure for HHT will come from a will move forward regardless of the economy. A collaborative partnership between the basic research scientists and the plan that will strengthen HHT awareness to the clinicians, but it starts with you! The members drive this organization. healthcare community so that you (and your family YOU, the members of the HHT Foundation, will bring about the members) are diagnosed and treated properly. A funding to find the cure, you the members keep the doors open and plan to increase the number of centers so that multi- the lights on…..and YOU are the only thing that can stop the HHT disciplined teams treating this multi-organ disorder Foundation from moving forward! Please renew your membership, are closer to the seriously impacted members as make a donation, call us to volunteer. We are counting on you. Your needed. children are counting on your commitment. This plan isn’t in the future. This plan includes the CDC conference, the CME accredited Physician’s Conference in My name is Mary Leigh Krock. I am your Membership Coordinator. Chicago, and the new HHT Treatment Centers opening this coming I am here to support you. I look forward to hearing from you in the year. This plan is NOW! coming year. The HHT Foundation International is If you have HHT, if you care for y new toda the ONLY organization advocating for someone with HHT, if you want a Re research, education and legislation. CURE for HHT, please renew your online at g While your moment of crisis may membership annually. We need your have passed, do you want to STAY continued support today to improve r ww.hht.o INFORMED of the latest research, your quality of life tomorrow! Please renew online at www.hht.org or w treatments, educational opportunities & regional support? mail the membership form in this newsletter. Nine out of ten people in the HHT population are not yet diagnosed accurate diagnosis and access to available treatments that could mean due to widespread lack of knowledge by both medical professionals the difference between needless disability or premature death and liv- and the general public as a whole. It is so important to reach the pub- ing a healthy, productive life. lic with information about HHT in order to reach the 90% of the HHT The HHT Foundation is extremely grateful to all of the individuals population who are currently at risk. responsible for building public awareness of this disorder. One of the best ways to reach the masses with information about HHT To view recent articles in the media about HHT, type the URL is through the press and media. By reaching the masses, individuals addresses listed below into your web browser. that haven’t heard about HHT gain information that can lead to an The Grand Rapids Press, The Indianapolis Star, Times Colonist, Michigan Indiana Michigan “Genetic disorder HHT still a mystery” “Teen lives a story of perseverance — “The nosebleed disease” Written by Paul R. Kopenkoskey Stroke victim coming home after 3-month Chris Zdeb, Canwest News Service Tuesday October 14, 2008 recovery” Published: Thursday, July 24, 2008 www.mlive.com/grpress/lifestyles/index. Written by Cindy Marshall www.canada.com/victoriatimescolonist/story. ssf/2008/10/genetic_disorder_hht_still_a_m. Posted: September 3, 2008 html?id=cf68ba6f-3146-439d-9501-f5a1edd31523 html The New York Times Health Guide, Colfax Record, New York California “Osler-Weber-Rendu Syndrome” “Meadow Vista woman raises awareness of April 10, 2008 silent killer” health.nytimes.com/health/guides/disease/ Written by Gloria Beverage osler-weber-rendu-syndrome/overview.html October 8, 2008 Direct Connection HHT: Osler-Weber-Rendu
    • August 2, 2008 Second Annual Fighting for the Cure Dinner Dance By Sharon Williams, Legislative Advocacy and RNA Manager Clayton and Jodie Nissan Michigan We all know that these are difficult times. The HHT Foundation's Fiscal Year July 1, 2008 August 8, 2008 Lemonade Stand Fundraiser membership and general donations are significantly decreased from last year. to June 31, 2009 Emma Purdy Michigan That’s why the grassroots fundraising events hosted by our members are more $198,800 September 6, 2008 important than ever. Year Goal Third Dinner Dance Fundraiser The accomplishments that the HHT Foundation has achieved this year would for HHT not have been possible without your Chris Licata and Jennifer Blevins support in fundraising and giving! New Jersey The simple fact is that we need October 11, 2008 everyone’s help in raising funds in order to continue to be a responsive and results- Baltimore Marathon HHT Foundation Office oriented organization. The Foundation Maryland needs your help in funding to: continue and expand research October 12, 2008 develop improved treatments educate physicians and patients Second Annual Long Beach expand outreach efforts and Marathon availability of care ultimately find a cure $96,000 48.3% Year to Date Actual Organized by Debra Drysdale California We are basically halfway into our fiscal February 2009 (Current Event) year and I wanted to thank all of the individuals that have supported the HHT Mt. Kilimanjaro - Foundation in this fundraising challenge Climb for Awareness by organizing a fundraising event or by Scott Olitsky contributing to someone else’s event. Kansas If you are interested in learning more We thank these valued members of about fundraising for HHT, please visit the the Foundation. They have taken *(This goal does not us half-way up the thermometer in HHT website (www.hht.org) under HHT include Membership, meeting our goal. If we are to reach Foundation/Fundraising section. You can get numerous ideas there. You will see a listing General Donations and our goal, we need more individuals, Annual Appeal) of ongoing fundraising events, past events and lots of great ideas. Additionally, always feel 0 like yourself, to get involved with fundraising. free to call the HHT Foundation office at 800- 448-6389. Clayton and Jody Nissan had so much fun This year the Nissans had more volunteers and success with their first Dinner Dance to help in the planning of their fundraising Benefit for HHT in August of 2007 that they event. Clay and Jody wanted to raise more decided to do it again! money than the previous year. In August Clay has been treated by Dr. Swanson at 2008, the guests of the Nissan Dinner Dance the Mayo Clinic HHT Center of Excellence enjoyed wonderful food, beautiful raffle since he was first diagnosed. Clay and Jodie items, and plenty of music and dancing. With took all three of their children to the Mayo just over 110 contributions made, they were Clinic in November of 2006 and the oldest was able to increase their donations to the HHT diagnosed with HHT. Jodie explains, “This Foundation by 38%. The HHT Foundation was very devastating for us, and especially is so honored and thankful for the Nissan’s Clay. Holding the fundraising events is a great generosity and willingness to reach out to way for us to feel like we can raise money their community of family and friends in an Michigan to hopefully find a cure and prevent another effort to raise awareness and money for HHT. tragedy in our family as well as other families with HHT.” HHT: Osler-Weber-Rendu Direct Connection
    • Emma Purdy, a 7 year old from Clyde battles illness — Lemonade stand proceeds Township in Michigan, set a goal to raise to fight genetic disease”. She placed a box $1000 for HHT. Emma exceeded that goal by of candy bars in the lunchroom of a large raising over $1,500 for the HHT Foundation company with a for sale sign to benefit HHT and it all started fifty cents at a time with her and the article propped up next to the candy lemonade stand on August 10, 2008. bars. That did it! She raised her $1000. A Emma, her brother Elliot, and dad (Don company called Thrivent Financial was so Purdy), as well as many other family impressed by Emma’s effort that they matched members, have HHT. Emma’s mother, Diana, Emma’s earnings by donating .50 cent on the said that Emma learned how expensive dollar to the HHT Foundation. medical care can be. Emma’s goal was to “I think I really want to raise more money raise money and increase awareness for this for the HHT,” Emma said. The next event disorder that affects so many people in her the Purdy family is planning is a bowling family. fundraiser in February 2009. “It feels a little helpless,” said Diana Purdy. Emma Purdy’s Lemonade Stand The HHT Foundation is extremely “There’s not a lot I can do for (the kids) except appreciative of the Purdy family’s efforts. make sure they get everything they need done. lemonade in her community. Thanks to In particular, we are thankful for Emma’s Regular blood work, MRIs and CAT scans to generous neighbors, the lemonade stand understanding of how important it is to look for AVMs are part of the routine”, she raised $88. Emma was determined to reach her raise awareness and money for HHT and said. Diana said she believes the family has goal of $1000 so on August 23rd she added her willingness to do something about it. done a good job of informing others about hot dogs to her menu and set up another Emma realized that she can do whatever she HHT. “My entire workplace knows about it lemonade stand at the neighborhood garage sets her mind to do and SHE IS MAKING A now; and their families know about it,” Diana sale. Emma still hadn’t reached her goal. DIFFERENCE in the lives of those affected by said. Determined to raise $1,000 for HHT, Emma this disorder…she is also quite a resourceful, On August 10, 2008 Emma began raising laminated the article that the Times Herald enterprising young lady. Congratulations money and awareness for HHT by selling wrote about her lemonade stand called “Girl Emma! Dinner Dance Benefit in Memory of Jeffrey Blevins HHT Race for Awareness Chris Licata, and his wife, Jennifer Blevins The second weekend in October was a hosted their annual Glen Ridge benefit for very productive weekend for the HHT HHT at their home on September 6, 2008 Foundation in terms of raising awareness to raise awareness of HHT. They had and funds for HHT. We had over 48 set up a tent in their backyard, but heavy participants wearing bright green HHT rains that night turned their yard into a T-shirts who either ran, walked, or biked “mud wrestling pit" Chris said. The mud, in the Baltimore or Long Beach Marathon. New Jersey California however, didn’t hold the partygoers back Four different newspapers published articles from having a wonderful time. They simply about HHT’s participation in the marathons. pulled off their shoes and danced barefoot in the mud to Billy Joel These papers included the primary tunes played by a seven piece band. newspaper in Baltimore, The Baltimore Sun Although it was a fundraising event filled with fun, music, friends and a smaller local Maryland paper, the and neighbors, there was also a somber note to the function. Last North County Times, and two local California year, Jennifer Blevins’ brother, Jeffrey Blevins, died as a result of throat papers, the Colfax Record and Downtown cancer and perhaps the effects of damage caused by many years of Gazette. Twenty-five HHT members set up Maryland suffering from HHT. Jeffrey was 50 when he died and this event was fundraising pages and asked their friends, held in his memory. families and associates to support the HHT At the end of the evening, it was an incredibly successful fundraiser Foundation on their behalf. As a result, the HHT Foundation had despite the rain. over 340 individual donations come in totaling over $27,000. Chris said he was just amazed with the outpouring of donations. The HHT Foundation wants to sincerely thank everyone that “It’s truly a testament to the generosity of our friends, because they are participated in this endeavor — the individuals that set up fundraising the only people we invited,” said Chris. pages, the participants in the races, the volunteers, and the individuals For many years, the Blevins’ family has been a very active and that generously gave donations. valued member family of the HHT Foundation. Chris states that the biggest problem with HHT is it obscurity, “It’s more prevalent than Lou Gehrig’s disease, but it doesn’t have the brand recognition.” Thankfully, Chris and Jennifer are committed to planning additional fundraisers. Their dedication will impact the advancement of HHT. Direct Connection HHT: Osler-Weber-Rendu
    • October 12, 2008 Debra and Don Drysdale We wish to thank all the hosted HHT as following individuals a participating that supported the HHT charity in the Foundation in a variety of Long Beach different ways during the Marathon HHT Race for Awareness at on October 11 and 12, 2008 for the second the Long Beach Marathon. consecutive year. Festivities began on October 11 with a Fundraising Pages and carb dinner at the home of Deb and Don. Participants in Race Fundraising participants enjoyed a variety of delicious pasta entrees while getting Corie Bowden- Bike Ride acquainted and discussing their participation Nick Bowden- 5 K as bike riders, runners and walkers. Each Darrick Woo- Bike Ride guest shared their medical experiences and Larry Stahl- 5 K their personal link to HHT. Debbie educated Erica Bishop- 5K the group on the progress of the Foundation Long Beach Marathon Participants Denise Ortiz- Bike Ride as well as an update on the Patient and Roselle Virtucio- Bike Ride Physician conference in Chicago this past The Gebert Family- 5K September. Guests were primarily local Hannah Drysdale – 5K with three participants driving 7 hours to Don Drysdale – 5K participate in the weekend events. Debbie Drysdale – 5K Runners, walkers and riders met in Long Beach as early as 5:30 AM, all wearing their Fundraising Pages bright green HHT shirts to spread the word. “A sense of unity and bonding developed Jane Silk as we travelled the course as a group with a Rick Lustig cause”, stated Deb. In total, the Long Beach Jill Wilterdink Marathon raised over $13,500 dollars and Murray Brillant spread a worthy message to the community. Michelle Drysdale Participants in Race Dave Alesio Long Beach Start Line Wes Bishop Denise was diagnosed with HHT just two years ago after having a stroke. She was in the hospital for 2 1/2 weeks after that event. That is one of the reasons Denise decided to participate in the HHT Race for Awareness in the Baltimore Marathon. “We need to diagnosis people with HHT before tragic events occur, not after the fact.” I was fortunate to not have any permanent disabilities associated with my stroke — many are not so lucky.” exclaims Denise. Thanks to an ambitious young intern at University Hospitals of Cleveland, the wonderful people at the HHT Foundation, and the amazing doctors and staff at the HHT Center of Excellence at Yale University School of Medicine, Denise is in a fantastic position to work through future health concerns. Denise Sherman created her HHT fundraising page for the Baltimore Marathon on July 8th, 2008 and emailed it out to everyone she knew. She was overwhelmed by the generosity of her friends, family, and associates. The donations started coming in ranging anywhere from $10 to $500. Denise received 68 donations which made her the Top Fundraiser for the HHT East/West Coast Marathon Challenge. Congratulations and Thank You Denise! Denise Sherman and Paul Claridy after they finished the 5K at the Baltimore Marathon HHT: Osler-Weber-Rendu Direct Connection
    • October 11, 2008 The main activities all occurred in downtown Baltimore between the Raven’s M&T Stadium and Oriole Park at Camden Yards. At the crack of dawn on Saturday, October 11th, the streets were already flooded with runners and spectators. It was an absolutely gorgeous day with clear blue sky, plenty of sunshine, and a comfortable 75°F. As you walked into the main court, Celebration Village, there were several white tents one of which had a large sign that read “HHT Foundation.” Immediately outside the tent, you could not miss all the bright green HHT T-shirts being worn by 34 participants that were running or walking in either the 5K, team relay, half marathon or full marathon. This was the first year that the HHT Foundation participated as an official charity in the Baltimore Marathon. Of the Baltimore Marathon participants 34 participants, well over 50% had never participated in a Marathon event before. Our entire staff the help of individuals that set up fundraising pages or personally participated along with many local HHT families and friends. One of donated. There were many individuals that set up fundraising pages our fundraisers, Denise Sherman and her friend Paul Claridy, traveled in order to raise money for the Foundation without participating in the from as far as North Olmsted, Ohio to be a participant in the race. race. One member of our HHT Board of Directors, Diana Meiches, was We were able to raise over $14,000 for the HHT Foundation with very creative. Diana set up a fundraising page for HHT, sent it out to Outside HHT Foundation tent John and Melissa Meighan from Odenton, Maryland Direct Connection HHT: Osler-Weber-Rendu
    • We wish to thank all the following individuals that supported the HHT Foundation in a variety of difference ways during the HHT Race for Awareness at the Baltimore Marathon. Fundraising Pages and Fundraising Pages Participants in Race Jackie Copeland and Team John McMahon Denise Sherman – 5K Diana Meiches John and Melissa Meighan -5K Marianne and Allyson Clancy Bob Berkman – 5K Stacey Griffin Mary Leigh Krock – 5K Sharon and Jonathan Williams 5-K Nicole Schaefer - 5K Participants in Race Marathon Team Relay 5K The Finish Line Cookout Celebration Brian King Sally Byrne Dana Bosk Steve Bradley Karen Dubs Sharon Fatica Bonnie Bradley Gady Fishpaw Angela Purcell-Patti her friends, family, and associates, and raised money for HHT while Karen Dubs Jonathan Purcell participating in a “virtual marathon.” She walked and ran the 5K on Half Marathon Kathy McAllister her treadmill while enjoying the comfort of her home in Massachusetts. Harry Bosk Brody McAllister It was “a virtual 5K experience” but the funds she raised for HHT were Pat Kopins Leslie Okun Tim Mooney Donna Hennessy quite real. John Gaughan Mary Vaccarino This event was an incredibly rewarding experience for everyone who Lacey Livingston Stacey Suggs participated. Individual accomplishments were achieved; awareness Roseanna Gibbons Dana Bourland about HHT was raised through several local press articles, friends, Wendy Pace colleagues, and high school coaches; valuable funds were earned for Volunteers the Foundation; and we all got to know each other better through the Sara Palmer – Public Relations race festivities. Tammy Livingston – The Finish Line Cookout Celebration paid advertisement HHT: Osler-Weber-Rendu Direct Connection
    • February 19-26, 2009 By Sharon Williams, Legislative Advocacy and RNA Manager Scott’s Goal Scott’s goal is to earn $19,340 for the HHT Foundation – one dollar for every foot he climbs to the summit of Mt. Kilimanjaro. As Scott’s climbs on his Stair Climber with 50 pound pack on his back, his donations for HHT keep climbing as well. Currently, HHT has received just over $13,340 in donations. Four HHT members are helping Scott raise funds by setting up their own fundraising pages and over 78 separate donations have been made. As of January 6, 2009 $19,340 Goal $13,340 69% Actual Scott Olitsky (right) and his friend, David Coats, both pediatric ophthalmologists, stand just below the summit of Mt Whitney at about 13,000 feet. Mt. Kilimanjaro, in northeastern Tanzania, er or not to attempt this climb. “It seemed reaches 19,340 feet and is one of the seven worth a try,” says Scott. “The HHT Foundation summits; the highest peak on each of the and the doctors interested in this disease seven continents. You would not expect to have done great things for people with HHT, find someone with Hereditary Hemorrhagic including most of the people in my immediate Telangiectasia (HHT) standing on the summit family. Studies that have been performed have but that is exactly where Scott plans to be on taught us a great deal about the natural course February 26, 2009. of the disease as well as treatment options for 0 On February 19, 2009, Scott will set out on a it,” Scott further commented. nine day route to the top of Mt. Kilimanjaro Scott admits, “Being involved in a public with two of his good friends. On the last night, fundraiser is something that is not very com- Scott's comments he will sleep at 18,000 feet where the tempera- fortable for me and I imagine that is true for “Currently, I wake up at 5am and work out 6 ture is likely to be below zero. many people with HHT.” However, Scott days a week to prepare for Kili. My workouts wants to do what he can to help raise money usually include running 3-4 miles or using the Stairmaster, usually with my 50 lb back- Why is Scott climbing Mt. Kilimanjaro? for the HHT Foundation so we can continue pack.” Scott is part of a family of five generations to help people with HHT. He is hoping that his climb up Kilimanjaro will also increase “Some days are tougher than others to get of HHT patients, including his three chil- awareness of the disease as well as highlight up and going. I figure that if I do not get my dren. Scott’s hope is that his climb up Mt. the medical community’s ability to treat many workout in that day, I may have decreased my Kilimanjaro will help to increase the awareness of the problems associated with it which will, chance to make it to the top.” of HHT. Currently, 9 out of 10 of the HHT ultimately, allow HHT patients to live better “The cold, dry air really wreaks havoc with population (68,000 US citizens) are not yet lives. “My climb will hopefully highlight the nosebleeds this time of year. Some days, my diagnosed due to widespread lack of knowl- good news. HHT tragedies can be prevented nose may bleed for the duration of my run.” edge by medical professionals and, therefore, are at risk of stroke, hemorrhage, and death. through early diagnosis and treatment,” Scott exclaims. If Scott can go through all of this preparation Given Scott’s history of anemia and the pres- and work for this climb, please find it in your ence of a pulmonary AVM, he debated wheth- heart to support him and all people with HHT. Direct Connection HHT: Osler-Weber-Rendu
    • email confirmation of your donation and Scott Your support and generosity is so appreci- will be notified as soon as you make your ated by Scott’s family, all of those with HHT donation. and their families, and the HHT Foundation. 3. Make a donation by mailing a check You can write a check to the HHT Foundation or make a credit card donation and make a note that it is to support Scott Olitsky’s Climb for HHT and mail/fax it to our office at: HHT Foundation P.O. Box 329 Monkton, Maryland 21111 Fax: 410-357-0655 Set up Your Own Fundraising Page to support Scott and HHT You do not have to climb Mt. Kilimanjaro in order to help raise money for the HHT Foundation in support of Scott’s Climb. You How can you support Scott and the can simply set up your own online fundrais- HHT Foundation? ing page and send it to your family, friends and associates. It’s simple, only takes about The HHT Fundraising Committee 1. Make a tax deductible donation online 20 minutes, and doesn’t cost you anything. Type the following address into your web- If you are interested in setting up your own wants to help you. For ideas and browser: page, type the following address into your www.active.com/donate/ClimbforHHT web browser: "how to" templates of successful You will see Scott’s Climb for HHT. www.active.com/donate/ClimbforHHT and click on: “Individuals: Click Here to build events, contact Sharon Williams at 2. Fundraising Page your personal fundraising page” under the 800-448-6389 or email her at You can make an online donation with a credit second box in the right margin. card securely and easily. You will receive an sharon.williams@hht.org. paid advertisement HHT: Osler-Weber-Rendu Direct Connection
    • LEGISLATIVE UPDATE HHT Legislative Initiative Do you feel like HHT has been pushed to the side? While other health issues and diseases received the attention and money from our federal officials in Washington D.C., HHT has been ignored! The HHT Foundation, the HHT Legislative Committee, the HHT Board of Directors, and a few key HHT members that have access to key political leaders, are all tripling their efforts in order to force Congress to pay attention to HHT and give us the same support provided to dozens of other health groups. Objectives for next fiscal year - FY2010 October 1, 2009 – September 2010 On October 1, 2008, Congress started FY2009 operating under a continuing resolution. This meant that a resolution was enacted to allow specific Executive Branch agencies to continue operating even though funds have not been appropriated for them for the following fiscal year. The HHT Foundation’s objectives going forward are: Gain a House and/or Senate Resolution Objective: To secure a resolution in the House and/or Senate that recognizes (1) HHT as a long neglected national health care problem that affects appropriately 70,000 people in the United States, (2) the lack of knowledge of HHT by medical professionals and general public since 90% of the HHT Legislative Election Results population are not yet diagnosed and are at risk for death or disability due to sudden rupture of the blood vessels in major organs in the body, and (3) that adequate federal funding is needed for education, outreach and research to prevent death and disability, improve outcomes, reduce costs, and increase the quality of life for people living with HHT. HOUSE OF REPRESENTATIVES Authorization The 2008 U.S. House of Representatives elections were held on November Objective: Launch major advocacy initiative to enact statutory language 4, 2008, to elect members to the United States House of Representatives authorizing a federally funded national program to combat the health and to serve in the 111th United States Congress from January 3, 2009 until financial consequences of HHT. January 3, 2011. All 435 seats were up for election. Appropriations Appropriation Process for FY2010 will begin in March of 2009 – House of Representatives Results: Objective: To secure the inclusion of an HHT earmark in both the House and Democratic 255 (added 22 seats) Senate versions of the Labor/HHS appropriation bill. Republican 175 (lost 21 seats) Executive Undecided 4 Objective: To create medical and scientific support for increases in HHT Vacant 1 funding for surveillance, research and treatment within the scientific community in the various HHS health agencies. This objective will build on the results/ SENATE conclusion of the HHT/CDC educational conference held in March of 2008. Elections for the United States Senate were held on November 4, 2008, with 35 of the 100 seats in the Senate being contested. In the very near future, the HHT Foundation will be asking for your help and the help of families and friends everywhere to write a letter, send an email, Senate Results: make a phone call, or possibly visit your Members of Congress. We have to get Democratic 56 (+ 2 independent) ( added 7 seats) as many people standing up for HHT as possible in order to gain Washington’s Republican 40 (lost 7 seats) attention and begin the process of funding for our cause. Specific instructions will follow. Thank you for your anticipated support. Volunteers The HHT Foundation is able to accomplish major tasks (i.e., conferences, website, fundraising) with a small staff because of the invaluable number of volunteers who help us. WE CURRENTLY HAVE A NEED FOR INDIVIDUALS WITH EXPERIENCE IN (1) SOFTWARE PROGRAMMING AND (2) MEDIA & PRESS. If you have experience in either of these areas or have other skills you would like to share with the foundation, please contact Sharon Williams at 800-448-6389 or Sharon.williams@hht.org. Direct Connection HHT: Osler-Weber-Rendu
    • LEGISLATIVE UPDATE Genetic Information Nondiscrimination Act of 2008 Washington, DC — The President has signed into law the Genetic Information Nondiscrimination Act (GINA) that will protect Americans against discrimination based on their genetic information when it comes to health insurance and employment. The bill had passed the Senate unanimously and the House by a vote of 414 to 1. Specifically, the legislation protects against genetic discrimination by health insurers or employers by: Prohibiting group health plans and issuers offering coverage on the group or individual market from basing eligibility determinations or adjusting premiums or contributions on the basis of genetic information. They cannot request, require or purchase the results of genetic tests, or disclose genetic information. Prohibiting issuers of Medigap policies from adjusting pricing or conditioning eligibility on the basis of genetic President George W. Bush signs H.R. 493, the Genetic Information information. They cannot request, require or purchase the Nondiscrimination Act of 2008, Wednesday, May 21, 2008, in the Oval results of genetic tests, or disclose genetic information. Office. White House photo by Eric Draper. Prohibiting employers from firing, refusing to hire, or otherwise discriminating with respect to compensation, terms, conditions or privileges of employment. Employers may not request, require or purchase genetic information, and may not disclose genetic information. Similar provisions apply to employment agencies and labor organizations. GINA, which has been debated in Congress for 13 years, will pave the way for people to take full advantage of the promise of personalized medicine without fear of discrimination. Late Breaking News Capital Hill Day in 2009 On December 22, 2009, Melissa Chandler, Legislative Director for Washington D.C. is a beautiful and exciting place to visit in late Representative Joe Wilson of the 2nd District in South Carolina, spring. It a great vacation spot and a great learning experience for confirmed Representative Wilson's commitment to sponsor a House kids of all ages. Resolution for HHT. The HHT Foundation, in conjunction with the HHT Board of This is a great step forward for our legislative effort achieved at Directors, and HHT Center Directors, hope you will be able to join us the end of 2008! Ms. Chandler stated the resolution will be drafted in as we approach Capitol Hill as a unified force in May/June of 2009 January 2009 and introduced the beginning of February. The resolu- for the Third HHT Capitol Hill Day. Typically, Capitol Hill Days tion will state that the House of Representative recognizes HHT as are on Thursday so that would give you a long weekend to tour and a national health problem and designates May 2009 as the first HHT enjoy our nation’s capital. National Awareness Month. There will be training and instruction given to all attendees prior After Representative Wilson introduces the resolution and a num- to their meeting with their respective Congressional Representatives ber is assigned to it, his office will send a Dear Colleague Letter and/or their staffers. In these brief meetings, individuals will share out to other House members to ask for their co-sponsorship. When how HHT has impacted their life and that of their family and ask for this occurs, we will need all HHT Members, their families and their their representative’s support in gaining federal funding for this long friends to email, fax, write, or all of the above asking them to add neglected disorder. their name as a co-sponsor the resolution. This will probably be in the February timeframe and instructions and a sample letter will be More information to follow in the near future. sent out. HHT: Osler-Weber-Rendu Direct Connection 31
    • Directory of Regional Networking Alliances Living with a rare disorder can be isolating and frightening. Whether you are newly to share their concerns and experiences so they no longer have to feel isolated. In an diagnosed with HHT or have been living with the disorder for years, you don’t have to RNA, you can move from despair to hope by discovering the tools you need to cope on face this illness alone. a day to day basis as well as have the opportunity to get involved in issues that affect your life. The HHT Foundation has an ever-growing network of support groups called Regional Networking Alliances (RNA) operating across the United States and Canada. Join one of our existing Regional Networking Alliances: We currently have RNAs in the following areas. Please feel free to contact the Regional What is a Regional Networking Alliance (RNA)? Coordinators in your area to learn more about the group. If you are interested in start- A Regional Networking Alliance is an informal group of empowered and caring vol- ing an RNA in your area, please contact Sharon Williams at 800-448-6389 or sharon. unteers that work closely with the HHT Foundation to facilitate local connections for williams@hht.org. individuals and families affected by HHT. An RNA can provide a forum for individuals CALIFORNIA RNA NORTH CENTRAL KANSAS RNA PENNSYLVANIA RNA Co-Regional Coordinator: Angela Brown Regional Coordinator: Scott Olitsky PHILADELPHIA AREA Concord, CA Leawood, Kansas Co-Regional Coordinators: Allan and Gwen Olitsky Contact Information: Contact Information: Landsdale, Pennsylvania alfaangle@aol.com scottolitsky@aol.com Contact Information: (925) 998-0099 (913) 897-6688 ajolitsky@aol.com GwenOMS@aol.com Co-Regional Coordinator: Denise Hitzeman MARYLAND RNA MD, DE, DC AREA (215) 368-8636 Scotts Valley, California Regional Coordinator: Sara Palmer Contact Information: Baltimore, Maryland RHODE ISLAND RNA RI, CT, AND MA hhtcoordinator@highono2.com Contact Information: Regional Coordinator: Bob Resinger (408) 839-9503 spalmer@jhmi.edu West Warwick, Rhode Island (410) 653-2245 Contact Information: CALIFORNIA RNA SOUTHERN Dbobbins@cox.net Regional Coordinator: Deb Drysdale MICHIGAN RNA (401) 615-5642 Newport Beach, California Co-Regional Coordinator: Carol Gaertner Contact Information: Saginaw, Michigan TENNESSEE RNA debradrysdale@cox.net Contact Information: Regional Coordinator: Cassie Hamilton (949) 854-0557 carolgaertner610@msn.com Nashville, Tennessee (989) 752-3342 Contact Information: GEORGIA NORTHERN GA AND psychopharmrx@yahoo.com WESTERN SC Co-Regional Coordinator: Jill Wilterdink (423) 710-3395 Regional Coordinator: Bette Holzberg, M.D. Wyoming, Michigan Evans, GA Contact Information: TEXAS RNA Contact Information: j.wilterdink@comcast.net Regional Coordinator: Bob Parsons betteholz@yahoo.com (616) 531-5671 Kerrville, Texas (706) 447-8501 Contact Information: NEW JERSEY rparsons@stx.rr.com ILLINOIS RNA CHICAGO AREA Regional Coordinator: Abbe Rosner (830) 257-3406 Co-Regional Coordinator: Sandra Lurie Teaneck, New Jersey Highland Park, Illinois Contact Information: WESTERN CANADA Contact Information: abberosner@yahoo.com SUPPORT GROUP Dziner115@sbcglobal.net (201) 692-3696 Regional Coordinator: Delaine Elle (847) 831-2291 Edmonton, Alberta OHIO RNA Contact Information: Co-Regional Coordinator: Reta Kunz-Jankowski Regional Coordinator: Denise Sherman celle@telus.net Lake in the Hills, Illinois North Olmsted, Ohio (780) 475-1717 Contact Information: Contact Information: Retats@juno.com dsherman09@gmail.com (847) 659-1606 (440) 779-1650 Direct Connection HHT: Osler-Weber-Rendu
    • Calling All Artists . . .Young and Old The HHT Foundation will be designing its own special occasion greeting cards to be purchased online at www.morethancards.com in 2009. Therefore, we need artwork for all occasions — birthdays, Get Well Soon, Thank You, sympathy, Christmas, Hanukkah, etc. We need art from children and adults. The more variety, the more cards people will have to choose from. This is not only an opportunity to raise money for HHT but also to raise awareness about this disorder since individuals who do not have HHT will visit the site. All artwork should be in color and forwarded to the HHT Foundation no later than February 28, 2009. What a great project for the whole family! If you have any questions, please call the Foundation Office at 800-448-6389 (US/Canada) or 410-357-9932 (International). Your artwork should be mailed to: Mary Leigh Krock, HHT Foundation International, Inc., P.O. Box 329, Monkton, MD 21111 or emailed to maryleigh.krock@hht.org. Guidelines for Morethancards.com Art Contest ALL artist submissions are welcome—professionals, amateurs, adults, teens, Use sturdy art paper rather than plain white paper. Avoid black and children (with or without HHT). We would simply like to know of your backgrounds. HHT connection for potential use in the card’s artist information. Avoid use of sparkles or glitter, which may not scan well. Do not reference “HHT”; these are holiday-themed or all-occasion notecards. Physical artwork submitted will be scanned to a high resolution file if the size Reference to HHT will be in the form of the JDRF logo and artist information is less than 11” x 17.” Alternatively, a high resolution image of a larger piece on the back of the card. of art can be accepted via CD or email attachment. Please email us at info@ Strive for designs/themes which will be of wide interest to card purchasers, morethancards.com before sending a hi-res image file (must be 300 dpi or better, not just parents/grandparents of the artist. (Remember, we are aiming recommended size 1670 x 2325, tiff format). for broad-based awareness and fundraising for a wide variety of supporters.) Artwork specifications: Religious artwork is acceptable (Christmas, Hanukkah, etc.). Cards are approximately 6” x 8”, so multiples of these increments work best without cropping (6” x 8”, 9” x 12”, 12” x 16”). Flatbed “scanable” size is Note: Artwork is typically NOT returned and becomes the property of preferred. MoreThanCards/HHT for its use, but specific arrangements may be made Use colorful paints or pastels instead of crayon and markers, which do not for professional artwork, etc. Please email info@morethancards.com or call reproduce well. 1-866-MTC-CURE (1-866-682-2873). No pencil or colored pencil. These do not show up as professionally as we would like. These cards were custom designed and donated by one of our valued HHT member families, Michael and Daryl Anisfeld. It was the Anisfeld’s hope that these tribute cards would give people an opportunity to recognize special occasions of loved ones in a very meaningful way while at the same time increasing awareness about HHT and raising funds to further HHT research, educate families and physicians, and advocate for and support those with HHT. The holidays and personal celebrations are a perfect time to reach out to your friends and family by sending them a tribute card that acknowledges that a contribution was made to the HHT Foundation in recognition of the occasion. These cards are specifically designed to be used for any occasion. No matter what the occasion, show you care by sending a HHT Tribute Card. Please support the HHT Foundation by purchasing these tribute cards. You can either order the card online at www.hht.org or mail a check to the HHT Foundation (P.O. Box 329, Monkton, Maryland 21111) specifying the number of packs of HHT Tribute Greeting Cards you want to purchase. If you have any questions please call our office at 800-448-6389. HHT: Osler-Weber-Rendu Direct Connection 33
    • Our sincere and heartfelt thanks go out to everyone who has contributed to the HHT Foundation whether through research endowment, membership, general, or tribute donations. FOUNDER $100,000+ Charles and Oranee Abbott Terence & Cynthia Brown Grace Nolan Foundation The Estate of David and Clara Anonymous Family In loving memory of Patricia Jennifer L. Blevins In loving memory of Grace Bartley Jordan Abbott Rasmussen, Stephen Nolan Marc and Diana Meiches Abbot and Rachel Abbott GOLD BENEFACTOR $50,000 - $99,999 William and Mary Blevins Jeffrey A. Blevins Memorial Fund Mary Vann Ola Zuckerman Anonymous Donor SILVER BENEFACTOR $25,000 - $49,999 AXA Foundation, Inc. Brennan Charitable Marcia Lee Anonymous Donor In honor of Jennifer Blevins Foundation BRONZE BENEFACTOR $10,000 - $24,999 Bass Golf Tournament Carol & Elliott Engberg Kenneth & Ginny Huntoon Stephen & Jane Silk David P. Taylor Arlene & Richard Bennett In memory of Scott Lee Arthur & Pam Lewis Leo Sprecher In memory of James O. Taylor Health New England Engberg David & Donna Mitchell St. John Health Foundation In honor of Mike Daly James Gossage, MD Roger Richman GRAND BENEFACTOR $5,000 - $9,999 Bank of America Foundation Barbara Kosko Stewart Rahr Shirley Sahlie William F. Wright Kenneth M. Duberstein In memory of Nicholas & Mary Reliable Churchill, LLLP Kosko & Dolores Kaczinski Frank & Trish Linke M. Clark Sahlie Michael & Judy Steinhardt Below we list donors who have contributed since the publication of our last newsletter through December 18, 2008. PRESIDENT’S CLUB $1,000 - $4,999 Christopher Condron Michael & Mary Johnson Thomas & Christine Motamed Steven & Ursula Schulman David & Joanna Stoner Mary Beth Farrell Robert & Sharon Jones Kevin & Rivette Murray Shepherdson Family Derek & Tracey Walker Jeanne Funrue William McDermott Steven Rosenthal Richard & Karen Silver Dr. & Mrs. Robert White, Jr. BENEFACTOR $500 - $999 William Dan Arrighi Jessica Farinholt Jonathon D. Limpert, MD Joan Ross Ruth Brilliant Barbara Goodstein Andrew & Connie Mcelwee, Jr. State Farm Companies Fdn. Chubb & Son, Inc. Joan Lawrence-Ross Robert Rosenblatt Thomas & Nancy Wright PATRON $250 - $499 William Accordino Chevron Humankind Cathryn Gabor & Robert Fuller Scollard Family Foundation Warner Air, LLC BWS Mechanical Tom & Lizann Coleman Seth Goodchild Steel Services, LLC Jeremy & Julie Winter Bradley Blevins Thomas & Donna Daniels Grasea Enterprises, LLC Robert & Sharon Taylor Timothy & Renee Brown Robert & Maria Demeola Edward & Kathleen Kulik Margo Trunley Richard Buchborn Richard & Isabelle Dziadzio Andrew & Jennifer McMahon Anthony & Trisha Turiano CCT, Inc. Robert Farinholt Daniel & Toni Murphy Elise Walton SPONSOR $100 - $249 234 Moonachie Corportion Michael D’Alfonso Charles & Mary Johnson Charles Marino Teresa Roth Diane Blevins Frank & Valerie D’Apolito Jake & Niki Johnson Andrew & Karen Martin Keith Rubin Howard Yale Blumberg Victor & Mary Lou Daley Dennis & Cheryl Kane James & Marion McDonnell Geriann & Joel Tealer Matthew & Megan Brown Bridget Dermody Robert & Helen Keith Clayton & Jody Nissan Michiel & Maria Van Winden Sandra Chase Charlyn Dumm Paul & Anne Schmidt-Krump Thomas & Kim O’Connor Jill Williams Steven Chicca Lisa Gaffney Alfred & Helen Kump Timothy & Lisa Pennell Frederick & Frances Wong Thomas M. Chicca Nicole Hotzapfel Anthony & Lisa Licata Stuart Pilsbury Linda Cirillo Deborah Mans & Mark Margaret Licata Jennifer Rinehart Robert & Sheryl Crosland Hotzapfel Michael & Margaret Marinaro Michael & Jan Rohal SUPPORTER $75 - $99 Robert & Diand Bastress Laura Cotie J&J Carpentry Daniel & Shannon Lohrman Ryan & Lisa Warner Neil Scott Blumberg Christofer & Megan Doll William R. Konschak Kevin & Jennifer Holcomb Pitts Joshua & Susan Canto James Downing, Jr. Marc & Norrine Levison Deborah Trowbridge 34 Direct Connection HHT: Osler-Weber-Rendu
    • FRIEND $50 - $74 Gloria Acheson Richard Burinda Brian Johnston Timothy & Sharon Palmer Gary & Julianna Stein Jonathon & Sarah Booth Steven & Linda Forrest Mike & Gayle McCullars Vandana Singla Martha Tomco Murray Brilliant, PhD Paul Hennessy James Newby Nancy Skjei DONOR $1 - $49 Gary & Toby Arbeiter Steve & Lisa Frazer Robert & Nancy Guyton John & Melissa Meighan Janie Lou White William & Dawn Bourne Rachel Frazer William & Kathleen Kelly Alan Myers John Aldi & Barbara Wild Gregory & Karen Breen Jim & Barbara Gavin Bernard & Roberta Levy Joseph & Hillary Walsh BRONZE $10,000 - $24,999 Robert & Lee Berkman GRAND BENEFACTOR $5,000 - $9,999 David & Charlotte Michael Roger Richman Tim & Cindy Burke Armin & Esther Hirsch Marc & Diana Meiches Stephen & Jane Silk Foundation PRESIDENT’S CLUB $1,000 - $4,999 Ana Marie Chiesa Frank & Trish Linke Don & Debra Drysdale Howard Lichtig & Kathleen Emma Rae Purdy Lemonade Amy Sokol David & Donna Mitchell Marc Topaz O’Neill Stand Christopher & Julie Jasinski Dennis & Maureen Routledge Craig & Janice Dixon Nissan Dinner Dance The Ginka Foundation Mark Gilson Peter B. Terry, MD Kenneth Duberstein Joy Michael Gene Steratore NFL Officiating Paul & Mary Gutknecht Gary & Anne Weidman Horacio Chiesa Michael Monaghan Louis & Elizabeth Acerra Michelle Letarte, PhD Dr. & Mrs. Robert White, Jr. Greg & Angela Brown BENEFACTOR $500 - $999 Telford & Pamela Allen Dolores Pedoto Deborah Kantor Leonard & Diana Babisz Marie Faughnan, MD Kirk Reed Raphael Short Stephen & Martha Lusk Kevin & Susan Huston St. Clair County Chapter Joseph A. Lange III Charles Bukauskas Frank & Josephine Carmona John & Maria Kemp Thrivent Fin. for Lutherans Gary & Beth Sergott Janet Boltinghouse Joseph DeMaio William Nolan Emilia D’Addio Eric Johnson Dean & Patricia Marsh Donald Mintz, MD Marguerite McCracken Sue Wesolowski Jeffrey & Carol Babisz S. Paul Oh, PhD PATRON $250 - $499 Jean Johnson Jeff & Ginger Malin Elliott & Madeline Wortzel Joseph Way Alan Kinney Rosalynne Berhold Marilyn Mazzitelli William & Elizabeth De Huff George & Toni Nissan Gary Bezilla Richard & Margaret Syrett Jim Nathan Art, Sandra, Lindsey Lurie John & Rosalyn Youngert Jack Nodwell Azadeh Mozaffari Sara Palmer, PhD Harry & Roanne Lukens Jason & Angi Herter Deborah Waller Matthew & Tabitha Burke Douglas Ross, MD GlaxoSmithKline Foundation Chuck Atkins Dibianca Berkman Foundation Hyman Berkoff Patricia Jedlicka Fred & Bonnie Bassinger Don & Diana Purdy Maria Sharpe Michael & Judith Daly Frank & Judith Sublette Gene & Trina Estes Soroptimist Intl of Capitola-By- LoJack Corporation David Goodwill Daniel Goodenberger, MD Gary Wolff The Sea Kevin Dougherty Dennis Powers Eileen Hansen Robert Hirsch Brecknock Elementary School Elementis Chromium David & Joanna Stoner Jenny Davis Jill Wilterdink Caring Tree Foundation Robert Lange Roane & Ann Lacy Renee Martin Gwen Joseph SPONSOR $100 - $249 Cornell & Martha Clement Sharon Lookabaugh Grady Bryant Dorothy Sims Joseph Gadjo Janice Hairston James & Jill Ibbotson Robert Wieland Ali Elhamel Ron Campbell Sylvia Firary Alerina Perna Carl & Valerie Nelson Jeffrey Pollak, MD Diane Geddes Sheila Weiss Noel & Deanna Baker Pam West Brian Johnston Jerry & Pat Miller Curt Johnson Fern Balch-Klassen Donald & Johanna Campbell Patricia Domenigoni Bodie Campagna Murray Brilliant, PhD Judith Lichtig Cecilia Cannon Margaret Donnelly Elaine Granastein Linda Dalfonso Richard Beguelin Nancy Smith Cannon Susan Taylor Helene Greenbaum Susan Reid Natalie S. Berman, PhD Barbara Brown Baruch & Teri Cohan-Link Lee Macbeth Vernon Williamson Joan Birrell Richard & Norma Castle Marie Duncan Jim Hatfield Judith Kolb David Bolton Stanley Prier Thomas Trimarco Emil Howanitz, MD Linda Blumberg Krista Clark Mark Chesnutt, MD Katherine Trimarco Kay Holm Gary & Toby Arbeiter Charles & Mary Jo Wittmer Siri Jacobson Elliott & Carol Engberg Dolores Snyder Phil Sublette Janine Brannen Linda Aird Roger & Devona Engebretson Benedict Fotz, MD Lois Espenshade Terry ARmentrout Marilyn Cooley Evelyn Deane Lawrence McCartin Stephen & Joanne Foulk Ruth Brilliant Clint & Deborah Brizendine Patrick Nolan, Sr. Christine Joel Donna Shecter Lawrence Kavanaugh Peter & Arlene Cronin Jack Fischer Ronald Johnson Anne Marie Castle Robert & Audrey Brady Evelyn Cronise Allan Miner Julia Choi Sandra Ylinen Nancy Browder Barbara Feldman Anthony Santini Phillip & Loretta Johnson Sharon Havens James & Joanne McEldowney Frank Curry Patti Jacobson Christine Kennedy HHT: Osler-Weber-Rendu Direct Connection 35
    • SPONSOR $100 - $249, cont. Robert & Helen Kennedy Douglas Marchuk, PhD Jo Ann Wishart Victoria Branch Debbie Loope Madline Knapp Richard & Mary Stevens Arthur & Natalie Auerbach David Levine Joan Pado Elsa Konigsberg J.T. Park Richard & Sandra Kalemba Robert Hoffman Patricia Coleman Joan Kord Nicholas Pathroff Mary Jean Lepis John & Michelle Salamon 4Front, Inc. Barbara Kosko Jon & Wendy Murray Randy & Meredith Kamm Brust Leslie Harrison Scott & Lori Somers Howard & Sylvia Kurtizky MaryBeth Blair Henry & Julianne Lange Linda Purdy Andrew Green Arthur & Helen Laine Arthur & Sandra Shmarak Linda Huber Robert Resinger Kelly Nissan Alfred & Joanne Lederman Kellye Bell Royce & Marjorie Nicolaisen Jack & Rose Sardicso Jerry & Barbara South Paul Macz Christina Nehring Reta Jankowski William Mandeville Jeff & Nancy Paquette Bob & Sue Mahy Edward & Gertrude Mahoney Bonnie Wener Russell Hnidy Hubert & Ruth Smith Jeanne Mathieson Linda McElvany Patrick Murphy, PhD Lawrence Dobrin Mark & Paula Kovinsky Frank & Eileen McBride Glenda Karrenbrock Vivian Hollandsworth Shelba Babisz Frederic & Peggy Eckhauser Jim & Jaylene McCracken Christina Contant Ralph Herrbach Simpson Manufacturing Richar & Mary Ann Colley James & Ellen McDonald, MD Ilene Calk-Ciccone Catherine Morris Sally Cornillie Thomas & Larah Gardner Maurice & Rosalie Meiches Jay Goldberg Anthony Sawicki, Jr. Craig & Rai Rockafellow Surgery Pharmacy Services, Richard Miller Katharine Henderson, MS, CGC Leslie Smith Michael & Gloria Babisz Inc. Cliff Nock Ted & Carol Salkin James Bartley Michael & Shirley Haewski Jill Sizemore Michael Nolan Nancy Shermoen Michele Germain Hammy Huston Andrew Lucarelli Norman & Pamela Parent Donna Terry Terrence McCafferty Scott & Sarah Gilbert Geoffrey & Barbara Magrath Susan Petrick James & Ann Firestone Mary Jordan Mark & Kyong Hui Odom Marc Waldeck Jim & Beth Plahn John Singleton, MD Nancy Amsterdam Betty Hill Ann Rowen Dennis & Kathleen Purcell Frederick Ninnis Ramon Solorzano Terry, Susan, Charles Nichols Jim & Nancy Kennedy Christy Putt Rodney & Ann Barber Sirus & Afsaneh Farivar Mark Fudala Gary & Monika Taylor Peter Ribicoff Mark Shannon John & Melissa Meighan Hazel Sanders Anton & Alison Lahnston Stave & Sandra Riskedal Nancy Marie & Gary Toto Harry & Dana Bosk Ronald Sanders Joy Jenkins Patricia Ritchey Barbara Greig, MD R.L. Croom Dave & Karen Yeager Elliott Mac Key Sally Robinson John Sem Colleen Wilson Richard Olitsky Mario & Rosa Gatoo Louie Pettit David & Lori Ann Wagner Ronald & Susan Brigden Karen Carroll Nathan Berkoff Gloria Rosenkrantz Walter & Nancy Marriner Keith & Dianna Bassett Arlene Hill Sam & Barbara Pierson, Jr. Robert & Winifred Schlossareck Mary Ellen Kadwell Eli Blatt Holly Randolph Lorna Rojas King Jason Schreiber Elaine Smith Charlyn Dumm James Flora Charles & Beverly Bell, Jr. Lowell Seibert Andrew White, MD Henry Parks Moss Michael Pruitt, Esq. Arthur Young Jason Silber Pia Malisani Janet Peyfuss Robert & Lisa McMahon Raymond Puskaric Jeffrey & Holly Smith Marie Vanella Betty Acerra GoodSearch.com Michael Lynch Vera Sprecher Scott Olitsky, MD James Neps Robert Lunday Gottlieb & Lipinsky Medical Richard Stahl Douglas Wever Bev Honchorek Fraternal Order of Eagles Stephen Ritchie Maude Murray Jean Colarusso Howard & Gail Ruderman Thomas Kinney, MD, MSME Mike Carey NFL Officiating Docia Geri Walter Gardner Ann Hanna Maurice Rhodes Crew David Brook, MD Sarah Greer Scott & Helen Stoner Emil & Helen-Veronica Sergott Scott & Jahnavi Brenner James Hodges Michele Riccardi Barbara Mundy Don Faix Jeffery Triplette Bridget Talarico Allan & Gwen Olitsky, DDS Rita Jacobs Roy Rogers Barkan Management Company Barbara Teresi Pat Steiner Nelson & Barbara Bills Patty Haugen William Janss Deborah Proctor, MD Terry & Juli Thompson Bonnie VanOrnum Liz Schaefer James Reynolds James & Elizabeth Sahlie Scott Rick Mavity Caroline Abramson Melody Goldiner Mrs. Donald Krier John & Jennifer Urbanski Aaron Osmun Tammy Livingston David Seibert, Jr. Mary Eisman Gary Van Genderen Christine Yeager Michael Jakino Gene Eveslage Christina Larisa Eda Berger Vidale George Cooper John Lane George McGinn Albert & June Hynes Kevin & Celia Watts Elyna Ito Michael & Nichol Timothy Elizabeth Moss Walter & Cynthia Coleman Evelyn White Darren McIntosh-Tom Julie Spiegler Active Private Club Community Jon Manjarris, MD, PA Thomas White Donald Truitt John & Mary Romano Kevin Hatmaker Nathaniel & Debra Howard John & Cheryl Wilson Joseph & Linda Mills Daniel Bolton Ron & Barb Shangle Humpal Physical Therapy Mike & Karen Young Ethel Achuff Richard & Helen Ahles Ann Kenyon SUPPORTER $75 - $99 Deborah Day Daniel Weintraub, MD George Stewart Daniel & Christine Dudley Theodore & Dawn Blashak Arlene Salkin Ronald & Sue Ann Kunz Brad Truelove Jason & Shannon Loverich Manuel Gil Mary Berry Letitia Kunz Karin Page Brian & Jennifer Rindfuss Katia Gil Tom & Diane Mulvany Patty Minns Cheryl Nelson Eric & Shelly Walton Nazih & Roxana Hijaouy Bill & Terri Presson Margaret Pallett Deborah Nerrie Elwood & Carol Webb Gerard & Lisa Clancy Donald Barton Sharon McDonald Steve & Ann Weaver Thomas Bergeron Paul & Kelly Lasala Faith Horn Barbara Vogel William Rieger Diane Pojanowski Kim Puzey Chris & Maggie Ford Mike & Daryl Anisfeld Joshua Murphy, MD Stephen & Joanne Darmofal Robyn Cowan Maurice Lueken Terese Svoboda Stephen & Amy VanBrussel Pat Clay Wayne & Jennifer Williams Jacqueline Bryan Jacquiline Ford Rinaldus & Denise Scicluna Judith Bloss Dallas Hogan Douglas & Rosemarie Highfill Giorgio Arri Howard & Irene Cohen Carla Pagnucco Keith Isaacson, MD Dennis Adams Marian Harrison Douglas & Karen Cohen Scott & Carla Gardner Jesus & Margaret Moreno Maynard Jaycox, Jr. Carol Beth Davis Larry & Tina Cochran Frank & Kimberly Delco Gerard & Josephine Murello GIFTS UNDER $74 Thank you to almost 500 donors that contributed to the HHT Foundation. These important gifts will be listed in an annual report of gifts that is new this fiscal year. 36 Direct Connection HHT: Osler-Weber-Rendu
    • Thank you to everyone who made an anonymous donation to the HHT Foundation, contributed through their local CFC or United Way, or arranged a matching gift through their employer. These types of gifts are truly appreciated by the HHT Foundation. DONATIONS THAT CELEBRATE In Honor Of... Our 4 Boys Bob Berkman Steve & Sue Eiredam Family Joe & Bonnie Mack Bill & Terri Presson Trina & Gene Estes Richard & Mary Ann Colley Charles Bukauskas Charles Bukauskas Happy 25th Anniversary Leslie Harrison Denise Hitzeman Frank & Judy Sublette Our Children Soroptimist Int’l of Capitola- Jamie McDonald Frank & Josephine Carmona Theodore Bucci By –The Sea James & Ellen McDonald Terri & Caitlin Presson Anne Marie Fillion William & Cindy Roberts Marc Meiches Kevin Isenberg Mr. & Mrs. John McMahon Happy Birthday John & Cathy Bukauskas Rita Jacobs George McGinn John & Karen Tegeler Maurice & Rosalie Meiches Charles Bukauskas Ron & Barb Shangle Kimberly Isenberg Carolelee Mendelson Marc & Diana Meiches Nicholas Castle Rita Jacobs Alfred & Arlene Lewis Mr. & Mrs. John Tegeler Happy Anniversary Mario & Rosa Gatto Dallas Hogan Maurice & Rosalie Meiches Pat Jedlicka Jack & Pearl Miner Debra Drysdale Natalie & Vincent Reis Allan J. Miner Dr. & Mrs. Robert White, Jr. Elizabeth Acerra Arthur Amsterdam Margaret Brokaw Arthur & Natalie Auerbach Bill & Lynn Kosson Family Nissan Family Hannah Drysdale Charles Bukauskas Craig & Rae Rockafellow Don & Janice Young Mr. & Mrs. Louis Acerra Don & Debra Drysdale Dave & Kay Carlson Betty Acerra Frank & Trish Linke Dr. Allan Olitsky & Family Lauren Drysdale Hubert & Ruth Smith Sharon Bennett Kathy Zellefrow Nancy Amsterdam Don & Debra Drysdale Brecknock Elementary School Don & Debra Drysdale Harold Lisonbee Tony J. Plahn Duncan Family Debbie Holland Congratulations to the Marie Duncan Graduate Jim & Beth Plahn MEMORIAL DONATIONS In Loving Memory Of... Allan Salkin Joshua & Susan Cantor Daniel & Tony Murphy Richard Buchborn Marilyn Fomalont Mrs. Arlene Salkin Chubb & Son Kevin & Rivette Murray Chevron Humankind Gerald Fomalont Linda Cirillo Alan Myers Leon Peikin & Jan French Bill Stafford Christopher Condron James Newby Neil Buck Naltalie S. Berman, PhD Gerard & Jo Ann Peer Robert & Sheryl Condron Thomas & Kim O’Connor Judith Bloss Frank & Valerie D’Apolito Winifred Richmond Thomas & Robert Gallagher Louis Kolb, MD Victor & Mary Lou Daley Jennifer Rinehart Emily Bukauskas Gladys Gallagher Judith Kolb Thomas & Donna Daniels Michael & Jan Rohal Charles Bukauskas Robert & Maria Demeola Robert Rosenblatt Florence Garcia Diane Allan Richard & Isabelle Dziadzio Steven Rosenthal Joan Campbell David Lori Ann Wagner Scott & Jahnavi Brenner Mary Beth Farrell Joan Ross Edwin & Linda Crabbe Susan Lee Steven & Linda Forrest Teresa Roth Joan Donaldson Leonard Gelfand Elizabeth Masi Cathryn Gabor & Robert Fuller Keith Rubin John Scott Kathryn Cleveland Lisa Gaffney Steven & Ursula Schulman Edward & Irene Middleton Bary Berkoff Seth Goodchild Scollard Family Foundation Dorothy Cantrell Beata Thau Hyman Berkoff Paul Hennessy Shepherdson Family Trust Robert & Nancy Guyton Deborah Mans & Mark Richard & Karen Silver Bev Honchorek Burnadette Gibson Sylvia Berkoff Hotzapfel Nancy Skjei Mr. & Mrs. Ed Montgomery Hyman Berkoff Nicole Hotzapfel St. John Health Foundation Mrs. Lucia Seghetti Ciampini Michael & Mary Johnson Robert & Sharon Taylor Emilia D’Addio LeRoy Green Frances Ethel Acheson Blevins Robert & Sharon Jones Joel & Gerriann Tealer Robin Row Laura Cotie Robert & Helen Keith Margo Trunley Beatrice Marie Clevenger Gloria Acheson William & Kathleen Kelly Anthony & Trisha Turiano Richard & Ollie McGregor Helene Greenbaum Paul & Anne Schmidt-Krump Michiel & Maria Van Winden Merck Partnership for Giving Gary Bezilla Edward & Kathleen Kulik Derek & Tracey Walker Beverly Conrak Merrill Lynch & Co. Foundation Alfred & Helen Kump Joseph & Hillary Walsh Karen C. Sawyer Mildred Hedke Marc & Norrine Levison Elise Walton Glenda Zager Jeffrey A. Blevins Memorial Fund Anthony & Lisa Licata Janie Lou White Denise Lafond Coven Thank you Chris Licata and Jennifer Margaret Licata John Aldi & Barbara Wild Alan & Patti Coven Freida Heiland Blevins for hosting the 2nd annual dinner in Jeffrey Blevins' honor. Jonathon D. Limpert, MD Jill Williams June Barhorst 234 Moonachie Corporation Jane Mahoney Jeremy & Julie Winter Donald Ferguson Dale & Kathy Brockman William Accordino Charles Marino Frederick & Frances Wong Martha Kord George Brockman William Dan Arrighi Andrew & Karen Martin Thomas & Nancy Wright Ed & Ron Counts AXA Foundation, Inc. William McDermott Dr. & Mrs. Robert I. White, Jr. Rene Flores Charles & Wilma Elsass Jennifer L. Blevins James & Marionn McDonnell Tom & Lizann Coleman Elementis Chromium Fast Insurance Agency Bradley Blevins Andrew & Connie Michael & Margaret Marinaro Humpal Physical Therapy Freida Heiland Memorial Gifts Diane Blevins Mcelwee, Jr. William Janss Larry & Josie Goffena William & Mary Blevins Andrew & Jennifer McMahon Paul Broseur Jon Manjarris, MDPA Pat Horstman Jonathon & Sarah Booth Thomas & Christine Motamed Ms. Belliveau Jesus & Margaret Moreno Chuck & Elaine King HHT: Osler-Weber-Rendu Direct Connection 37
    • MEMORIAL DONATIONS, cont. Mike & Sheila Lundy Shelagh Manton Vicente Pascual Jerry & Marilyn Seeman Sharon Keesucker Todd & Lisa Miller Jeremy Manton Mr. & Mrs. Steven Pascual Jeffery Triplette Eunice Plank Mary O’Boyle Arthur Young Susan Schnebly Gene & Mary Rickert Michael Lynn Martin Toby Pitchman David Seibert, Jr. Deb Ward Kim Puzey Arlene Salkin Ruth Ribicoff, 1908-1972 Elliott & Susan Siegel Ron & Kay Wolters Stephen & Jane Silk Highlands Men Golf Assoc. Carol Mashore Bill & Adele Racz Ralph Weaver Janet Hindman Chevron Humankind John & Donna Halligan Patti Rosen Ray & Elaine Bienvenu Harris Nydick Roberto Vera Joy Jenkins Elizabeth Paulette Mavity Jack Reader Elyna Ito Eddie & Kay Marx Gwen Joseph Barkan Management Allan Salkin Sam & Barbara Pierson, Jr. Company Ted & Carol Salkin Susan Way Barbara Weber Dr. Victor McKusick Ronald & Marie Baynes Claire Blum Frank and Trish Linke Charles & Beverly Bell, Jr. Vincent Sardisco Anne Holder Sally Brigden Jim & Barbara Gavin Susan & Daniel Way Louis & Elizabeth Acerra Donna Michell Colleen Cannon Jack & Rose Gavin Joseph Way Gary & Nancy Marie Toto Deutsche Bank of Americas Robert & Marie Carreiro M.L. (Red) Cashion Suzanne Sarnoff Marilyn Weintraub Elva Johnson Edward Millet, Jr. Walter & Cynthia Coleman Gwendolyn Baker John & Mary Romano Ronald Johnson WILL SPREAD OUT TO FIT HERE Arlene Vaughan Gene Steratore & NFL Martin Brodsky Officiating Crew Amy Caplan Gloria White Sandra Kalemba Henry Parks Moss, Jr. Albert & June Hynes Sara Palmer Thomas A. White Prudential Foundation Don & Debra Drysdale Vikki Johnson Alice Sarafan King’s Way Golf Club Stephen & Lisa Wegener Daisy Williams Murial Kaye James Murray Christing Larisa Maria Sharpe Sidney & Sandra Kaye Jon & Wendy Murray Diana Logan Steven Schroeder Nathaniel & Debra Howard David Lombard Kraft Foods Matching Gift Lorna Rojas King Alan Kinney Joyce Nock Mr. & Mrs. Michael Lynch Patrick & Laura Gilchrist Merrill Lynch & Co. Don Faix Ann Lynch Edith Seibert Karin Kabat Foundation Jeanne Funrue Mike Carey NFL Officiating Robert Chin Joseph & Deb Mackin Patty Haugen Crew Jim & Kathy Dodge Pepsico Foundation Boyd Lisonbee Frank & Trish Linke Raymond Puskaric Gene Eveslage LoJack Corporation Debbie Holland Cliff Nock Philip Raffa Donald & Cynthia Hoffman Roy Rogers Richard & Mary Beth Reid YES! I would like to subscribe to a paperless Direct Connection and receive my newsletter WEEKS BEFORE other members! Please complete the information below and return by email, fax or mail. DO YOU NEED CHARITABLE MEDICAL AIR TRANSPORTATION TO REACH AN HHT CENTER? (Please print neatly) Name _____________________________________________________________ Address ___________________________________________________________ City, State, Postal Code ______________________________________________ The National Patient Travel Center Helpline is operated by Mercy Airlift in support of Angel Flight America (which performs 90% of long-distance charitable medical air Telephone number(s) ________________________________________________ transportation in the U.S.), Joe’s House, the National Association of Hospital Hospitality Houses, and the American Cancer Society. EMAIL ____________________________________________________________ National Patient Travel Center Hotline: Email: FAX: Nicole.schaefer@hht.org 410-357-0655 800-296-1217 Mercy Medical Airlift Mail: HHT Foundation International, Inc. National Patient Travel Center P.O. Box 329 Monkton, Maryland 21111 38 Direct Connection HHT: Osler-Weber-Rendu
    • HHT: Osler-Weber-Rendu Direct Connection
    • Hereditary Hemorrhagic Non-Profit Org. Telangiectasia Foundation U.S. Postage International, Inc. PAID (Osler-Weber-Rendu Syndrome) Permit No. 200 Abingdon, MD The HHT Foundation is always looking for ways to be more efficient, cost effective, and environment friendly. This new year, we resolve to evaluate all of our programs against these measures. Starting with the next newsletter, we will streamline the information presented and reduce the number of pages which will affect printing and mailing costs. We will continue to acknowledge tribute and memorial donations in each newsletter but will begin to print an annual report highlighting the total fiscal year (ending June 30) giving of all HHT Foundation donors. Don’t assume that we have your email address. We only have email addresses for 40% of our members. Many alerts are time sensitive and can be sent through an email campaign which ultimately reduces mailing costs and increases the number of people notified. Please send your email/postal address and telephone number to jill.sergott@hht.org so we can update your records.