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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 ...

  1. 1. Title: Genetic Modification of HHT Researcher: Rosemary Akhurst, PhD, University of California – San Francisco Summary: This study will open up a whole new area of investigation and it addresses a fundamental question in HHT, what gene(s) act in concert with endoglin and ALK1 to predispose certain patients to the development of PAVMs? This modifiable gene, in stark contrast to the original two genes (which are receptor genes and difficult to target for the formulation of therapeutic agents), may give us an easier pathway for treatment. It is the first study to be funded that partners basic laboratory research with clinical research. This study will be conducted in collaboration with HHT Centers in France and The Netherlands. Title: Therapeutic Potential of VEGF Blockade in HHT Pathogenesis Researcher: S. Paul Oh, PhD, University of Florida Summary: The drug (Avastin) blocks a protein (VEGF) that advances the development of artery formation, called angiogenesis. It is Dr. Oh’s hypothesis that subjects with HHT produce more of this VEGF protein, and that this continued promotion of vessel development is key to the expression of the multiple defects. This would provide much needed additional insight to advance this particular drug for HHT therapeutic options (and perhaps warn us of potential risks). In addition, this study will investigate the relevance of this parameter in the disease process, give us disease understanding, and outline potential alternative targets for treatment pathways. Title: Cross-talk between Alk1/Endoglin and Notch Signaling in HHT Researcher: Christopher Hughes, PhD, University of California - Irvine Summary: This is a new area of HHT study! It is clear that people from families with identical gene defects experience multiple clinical types and levels of disease severity. In prior experiments, a series of proteins called “notch” have demonstrated in animals to produce defects in the walls of arteries, quite similar to those observed with ALK1 and endoglin. It may be that “notch” influences the clinical presentation of ALK1 defects in humans. Dr. Hughes proposes to use an elegant 3D system of vessel development. In the laboratory, developmental cells called “stem cells” (or the more matured “endothelial cells” which form 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 begin to develop in our bodies. By altering the cells, for either or both ALK1 and notch, he can actually observe if there are interactions in the formation of these arterial tubes. If notch is relevant, we can begin to find drugs that affect notch, and see if it makes a difference in this very same tube-development model. Direct Connection For Family, Friends and Supporters Hereditary Hemorrhagic Telangiectasia Foundation International, Inc. (Osler-Weber-Rendu Syndrome) IN THIS ISSUE... Research Grants Awarded........................................................1 Welcome New Board Members................................................4 National Patient & Family Conference...............................6-11 HHT For Clinicians Conference................................................12 HHT Treatment Centers..........................................................13 HHT At A Glance.....................................................................13 Global Research & Medical Advisory Board............................14 Scientific & Medical Update.............................................15-17 Research Update....................................................................17 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 $50,000 mechanism of disease grant. The research applications were outstanding! The research review committee scored each application and presented their recommendations of the top studies to be discussed for funding to the Board of Directors at the Patient and Family Conference in Chicago. Over the course of a few hours, three very generous donors came forward and we were able to raise an additional $100,000 so that the work of three scientists could be funded to advance critical HHT Research! HHT: Osler-Weber-Rendu Thank you to everyone who has donated to the HHT Foundation research fund. These donations, along with three extraordinary donors who stepped up at the national conference, made these grants possible. We are also very appreciative of these researchers and all of the scientists interested in HHT research. Together, we will make a difference in the lives of those affected by HHT!
  2. 2. Direct Connection HHT: Osler-Weber-Rendu 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: E-MAIL: The HHT Foundation International, Inc. was formed to aid and support families with the genetic disorder Hereditary Hemorrhagic Telangiectasia (Osler-Weber-Rendu Syndrome). Please feel free to copy this newsletter and share with family, friends and physicians. You can now use your credit card online to: donate to our annual appeal campaign or make general donations, registerforconferences! I hope everyone had a healthy and happy holiday season. We know that our country is going through difficult times and that most of us are facing challenges not only to our health but also our financial well being. In the face of this, keeping the momentum that the HHT Foundation has gained this year must be maintained. (This newsletter will provide you with a picture of what has been accomplished). We all have too much at stake not to do everything we can to get people with HHT diagnosed, increase the effectiveness of treatment, and to find a cure. 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 sharing ideas, information and other resources.” Our community not only includes affected families, but also includes the HHT Foundation staff, the doctors providing care in our 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 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 community see what financial support you can provide. As you know, we have been working diligently for Federal funding. We will be asking you to participate in this effort by communicating with your State Senator and local Representatives as we move this initiative forward. People who are extremely knowledgeable in the workings of the government tell us that this is the critical element in getting Federal funding. 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 more. How about you becoming one? By Bob Berkman LetterfromthePresident HHTFoundation Wish List Direct ConnectionThank You to Our Contributing Sponsors Interested in becoming a sponsor? Contact HHT for sponsorship opportunities and see how you can contribute today! 800-448-6389 Sponsorship and/or advertising in the HHT Foundation Direct Connection newsletter does not constitute endorsement of any treatment or product by the HHT Foundation International. 2 new computers or the funds to purchase them (1) tower for the office (2) laptop for the office and offsite conferences / meetings Website services – (1) programming (2) website management Legal services – contract review prior to HHT functions Writer – newsletter, PR campaign Thank You to Foundation volunteer, Trish Linke, for providing the funding to purchase a new laptop computer!
  3. 3. HHT: Osler-Weber-Rendu Direct Connection 3 HHT FOUNDATION INTERNATIONAL Marianne Clancy, Executive Director Monkton, MD James Gossage, MD, Medical Director Augusta, GA BOARD OF DIRECTORS Robert Berkman, President Blufton, SC Cheryl Wilson, Vice President Pineville, LA Charles Atkins, Treasurer Alexandria, VA John (Jack) McMahon, Secretary Downingtown, PA Murray Brilliant, PhD Tucson, AZ Debra Drysdale Newport Beach, CA Michael Daly Longmeadow, MA Diana Meiches Prides Crossing, MA Parks Moss Savannah, GA Michael Nolan Cork, Ireland Scott Olitsky, MD Leawood, KS Michael Pruitt, Esq. The Woodlands, TX Joel Rosner Teaneck, NJ Dennis Sprecher, M.D. Blue Bell, PA INTERESTED IN SERVING ON OUR BOARD OF DIRECTORS? Call the HHT office at 800-HHT-NETW or e-mail us at Tell us your talents and how you feel you can help move the foundation forward. HHTMission&ValueStatements Over the last 17 years, The HHT Foundation International, Inc. has grown from its infancy — a small group of dedicated individuals organizing and planning 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 growth, the HHT Foundation has been able to clearly define its mission. The Mission of the HHT Foundation International is to find a cure for HHT while saving the lives and improving the well-being of individuals and families affected by HHT. To achieve this mission, the HHT Foundation will: Fund research to find better treatments and a cure. Educate families and physicians about HHT so that awareness of crucial diagnosis and available treatments prevents needless disability and death. Provide linkages between people affected by HHT. Collaborate with multidisciplinary HHT Treatment Centers worldwide while advocating for patient access to these Centers. Advocate for and support those with HHT while increasing public, private, and governmental awareness of the disorder. Engage the scientific and medical community so that talented individuals dedicate efforts toward advances in HHT screening, diagnosis, treatment, and research. The HHT Board of Directors and Foundation staff live by this mission on a daily basis. Every project must meet at least one of our mission’s objectives. This mission acts as a beacon of light that we are always striving to reach. 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 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, 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 strive toward a common goal. Compassionate Ethical Patient & Family Focused Responsive Results Oriented Collaborative
  4. 4. Murray H. Brilliant, PhD, has been the Lindholm Professor of Genetics in the Department of Pediatrics at the University of Arizona College of Medicine since 1997. Dr. Brilliant chairs the Research Steering Committee of the Department of Pediatrics and is the Director of the Genetics Graduate Program at the University of Arizona. Dr. Brilliant has over 25 years experience in molecular genetics with 60 publications in this area. In particular, his efforts have led to the identification of two of the four known genes involved in oculocutaneous albinism as well as the HPS1 gene associated with albinism plus a bleeding disorder. Recently, his laboratory has been working to develop a novel gene therapy approach to address the problems associated with vision in people with albinism. Dr. Brilliant and his wife of 30 years, Leanne Schwartz, R.N., live in Tucson, Arizona. They have one daughter, Esther Brilliant, currently attending Law School at the University of Arizona. Dr. Brilliant diagnosed his own HHT in 1980, while still a graduate student. He is grateful to the HHT foundation and to Dr. Robert White for saving his life and those of his affected family members. He is committed to promoting the goals of the HHT foundation and to helping others affected by this disorder. Diana R. Meiches has been the member of various Boards of Directors including the Loomis Communities (Massachusetts) and the Heart of America Shakespeare Festival (Missouri). She is a small business owner that has led fundraising efforts for various 501(c)(3) entities including the HHT Foundation International, the Robert I. White, Jr. Professorship in Interventional Radiology at Yale University, and The Heart of America Shakespeare Festival. Mrs. Meiches received an undergraduate business degree from the University of Nebraska and graduated cum laude from Villanova University School of Law. She has utilized her business and legal degrees to enhance the financial operations of companies such as General Electric Company, Kidder Peabody & Co., Inc., and Herbert J. Sims & Co., Inc. Ms. Meiches and her husband, Marc, live in Prides Crossing, Massachusetts. Marc has HHT and Diana is determined to use her skills and resources to raise money and awareness for this disorder. The Meiches have always been very committed to the HHT Foundation and we are honored to have Diana on our team. Scott E. Olitsky, MD is the Chief of Ophthalmology at Children’s Mercy Hospitals and Clinics in Kansas City, Missouri and Director of Pediatric Ophthalmology at the University of Missouri. Dr. Olitsky has served on numerous committees and boards for a variety of community service organizations, including but not limited to, Children’s Center for the Visually Impaired, the Blind Association of WNY, and the Learning Disability Committee NYSOS. He is also an accomplished author, with over 50 published articles, 5 books, and more than 30 book contributions; a teaching professor, and an international speaker. Dr. Olitsky has also designed the Olitsky Calibrated Needle Holder (Katena Products). Dr. Olitsky and his family live in Leawood, Kansas. He is part of a family of five generations of HHT patients, including his three children. Scott has become passionate about making a difference in the lives of HHT patients. He is currently training to climb Mt. Kilimanjaro in an attempt to raise money and increase the awareness of HHT. Dr. Olitsky wants to use his experience and resources to advance novel therapies for nosebleeds. “The HHT Foundation and the doctors interested in this disease have done great things for people with HHT, including most of the people in my immediate family.” The HHT Foundation is grateful for Dr. Olitsky’s willingness to give back to the community and serve on the Board of Directors. Michael K. Pruitt, Esq. is President of The Pruitt Group, Inc. Mike Pruitt has served ambulatory and acute care segments of the health care industry for over 30 years as a clinician, clinical manager, administrator, consultant, transactional health care attorney, and large system executive. His focus over the past 18 years has been to create market and system-oriented strategies and to execute development initiatives designed to strengthen the providers operating in those arenas. His former employers have included for-profit and non-profit health systems and the nation’s largest niche health care law firm. Mike did his undergraduate work at the University of Florida and the Medical College of Georgia, completed his MHA at Duke University, and holds a Juris Doctorate from Valparaiso University. He is a member of the American Health Lawyers Association, and is a diplomate (CHE) in the American College of Healthcare Executives. Mr. Pruitt and his family live in The Woodlands, Texas. Mike is very involved in Youth Soccer. He is the chair of the Strategic Planning Committee for the Montgomery County Youth Soccer Club and is the President of the Timberline Youth Soccer Association. Mr. Pruitt is excited to serve on the HHT Foundation Board of Directors. His expertise will fill a critical need as we begin to implement the expansion of HHT Centers throughout North America. Remembering my mother, Ruth Ribicoff, and honoring her birth 100 years ago! Ruth was a kind and warm-hearted person who suffered multiple, severe symptoms of HHT — interfering with her daily life and ending her life far too early. Jane Ribicoff Silk Past President, HHT Foundation International 4 Direct Connection HHT: Osler-Weber-Rendu
  5. 5. HHT: Osler-Weber-Rendu Direct Connection 5 With the advent of the New Year, I would like to take the time to reflect on this past year and the steps taken by the HHT Foundation International to move HHT forward on your behalf. The Foundation has continued to build on supporting crucial research by funding a Young Investigator’s grant in search of the fourth HHT gene. Due to the incredible generosity of a few major donors, we were able to fund 3 basic research grants that are important in understanding why HHT develops, why some organs are affected, and the potential of new drug therapies that must be proven in the laboratory before embarking on human experimentation. The nosebleed severity index study funded by the Foundation will be completed and reported on at the Scientific and Medical Conference in Spain in May 2009. The next step will be to fund a study that will scientifically test several different therapies to reduce the volume and intensity of your nosebleeds. 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 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 with the HHT Centers of Excellence. The HHT Initiatives for the 21st Century Conference held in collaboration with the Centers of Disease Control was a landmark event that increased HHT’s profile among the leading medical and allied health organizations throughout North America. The results of the meeting will lay the groundwork for the types of initiatives that we will seek through our legislative advocacy in Congress. The National Patient and Family Conference held in Chicago was the most engaging and exciting meeting that I have attended since my involvement with the Foundation! We were able to hold our first continuing medical education (CME) accredited conference for physicians and allied health professionals through a partnership with Northwestern University Feinberg School of Medicine and our HHT experts. Our family and patient conference provided a comprehensive patient focused program along with over 60 workshops throughout the weekend. We will build upon these successes in 2009. Your support is needed through these turbulent economic times in order for the HHT Foundation to continue being an accessible, responsive, and results- oriented organization. Best Wishes for a Happy and Healthy and New Year. Marianne S. Clancy Executive Director By Marianne S. ClancyExecutiveDirectorReport It’s a big title, Board Director, but what does it mean? The Board of Directors oversee and direct the activities of the HHT Foundation. The HHT Foundation Board of Directors is an active position. As a group, the Board votes upon the annual budget and programs to be implemented. As individual board members, each person chairs a committee and serves on at least one other committee. Why would the HHT Foundation want me? We currently have 14 board members. Each board member plays a vital role in the function of the foundation. We need individuals with a variety of life experiences. Currently, we have board members with experience in health care, medicine, genetics, legislation & advocacy, business, and law. We desperately need an individual(s) with marketing, public relations, media, and/or communications experience. We also need individuals willing to raise funds and/or nurture our local networking groups. You don’t have to be a corporate executive or even have HHT. What you need is a passion about HHT and a desire to make a difference! What is required to serve on the Board of Directors? All board members volunteer their time All board members are asked to attend two physical meetings every year and to participate on committee or board conference calls several times a year. Board members are key to the success of every aspect of the foundation from our regional and national conferences to capitol hill activities to fundraising. We need Board Directors who are ready, willing, and able to commit themselves to at least a two-year term. How do I move to the next step? If you are interested in learning more about the HHT Foundation Board of Directors, please contact Jack McMahon, Nomination Committee Chair at Jack will be able to answer any questions you have. If at that point, you want to move toward becoming a board member, Jack will get you the appropriate paperwork and explain the nomination process. ItisthattimeofyearagainwhentheNominationCommitteeputsacallouttoourmembers. WeNEEDindividualswillingtoserveontheHHTBoardofDirectors
  6. 6. 6 Direct Connection HHT: Osler-Weber-Rendu Nicole Schaefer, Director of OperationsAnamazingevent….Over30speakers,16generalsessionlectures,and60workshops! 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 the HHT Center at Washington University in St. Louis, Missouri, hosted the 14th National HHT Patient and Family Conference. Over 200 people converged on Chicago, Illinois in September to learn more about HHT. Each morning, HHT physicians presented an overview of the diagnosis, treatment, and management of HHT within their specialty. This was followed by an afternoon full of interactive, question and an- swer workshops. This year, there were over 60 workshops to choose from and many new topics were added to the program. Just as important as the lectures, however, was the social network- ing that took place every evening. On Friday, everyone enjoyed a cocktail reception and on Saturday, friends and family gathered at the gala celebration dinner and auction. It is hard to explain the impact that a Patient and Family Conference has on your life, but these words come to mind… Encouraging - The majority of those who traveled to Chicago had never been to an HHT conference before. Individuals are starting to get through to their family about the importance of being informed about this disorder. Informative – Not only do attendees have a better medical understanding of this disorder but they are more aware of all that the HHT Foundation does on their behalf. Heart Wrenching – Some of the stories people shared were hard to hear… stories of denial and tragedy. But, on the other end of that story there was always HOPE. Inspiring – Who is not inspired by a 7 year old’s desire, dedication, and ability to raise over $1,500 for the HHT Foundation or by a mother determined to alter her family’s fate? Motivating – Enthusiasm is contagious and it motivates us to be get involved and be part of the solution, like become a family ambas- sador, write a Congressman/woman, educate a community physician, start a local support group, organize a fundraiser… the possibilities are endless! Impressive – The Director, and in some cases staff, from every North American HHT Treat- ment Center was present at the conference. In addition, physicians from four medical institu- tions that are currently treating HHT patients and want to become an HHT Center of Excel- lence participated in the three day event. Empowering – To be fully educated on this potentially life-threatening disorder is nothing short of empowering. Individuals now realize that they have the power to coordinate their health care, educate their community physi- cians, and advocate for themselves medically and legislatively. Priceless – The relationships…patient to phy- sician, patient to patient, physician to physician, patient to Foundation, physician to Foundation. With these relationships, all things are possible! Nicole Schaefer, Director of Operations The mission of the HHT Foundation International is to find a cure for HHT while saving the lives and improving the well-being of individuals and families affected by HHT. To achieve this mission, the HHT Foundation will: Educate families and physicians about HHT so that awareness of crucial diagnosis and available treatments prevents needless disability and death – Over 200 individuals attended this year’s Patient and Family Conference, many of whom came as a family. In addition, 25 medical professionals participated in the first HHT Physician Conference. If each one of these people shares their knowledge about HHT with five other individuals, and so on, and so on, IMAGINE the impact of this conference! Families will be diagnosed, people will be treated, and lives will be saved. Provide linkages between people affected by HHT – An indirect effect of every conference, whether it’s for patients or physicians, is to develop relationships. These relationships link us to one another and create a bond that cannot be broken. Through our HHT connections we have the resources to make informed decisions, the support to get through difficult times, and access to knowledgeable medical professionals. Collaborate with multidisciplinary HHT Treatment Centers worldwide while advocating for patient access to these centers – The Patient and Family Conference is the most visible collaboration of effort between the HHT Treatment Centers and the HHT Foundation. Although we partner throughout the year in many other ways, this is has the most direct impact on the largest number of people. The involvement and commitment of our treatment centers worldwide is a tremendous asset to the HHT Foundation and its members. Engage the scientific and medical community so that talented individuals dedicate efforts toward advances in HHT screening, diagnosis, treatment, and research – Scientists and physicians become interested in HHT for a variety of reasons. Keeping their interest is crucial to advancing HHT into the 21st Century and ultimately finding a cure. The patient and family conferences provide researchers something they can’t find in a lab - patient interaction – which has a significant impact on their desire to continue pursuing HHT research. Fund research to find better treatments and a cure – This year, the HHT Foundation received nine applications for research and four of them were NIH quality. For the first time ever, we are able to fund the three most promising research projects through the extremely generous donations of our membership. Never before have we had individuals approach us at the conference and ask if they could fund a research project. Within a matter of hours, the HHT Foundation went from presenting one $50,000 research award to funding three awards, totaling $150,000! Thank you to all of those who organized, attended, presented, exhibited, or sponsored the 14th Patient and Family Conference. As a team, we have advanced the HHT mission!
  7. 7. HHT: Osler-Weber-Rendu Direct Connection 7 CORPORATE SPONSORS ARUP Labs Celgene University of Pennsylvania DNA Diagnostics Laboratory CORPORATE DONORS Nosebud Total Promotions, Inc. Main Freight, Inc. CORPORATE EXHIBITORS Ambry Genetics ARUP Labs Gage Phytolaboratories (NO BLEED) Terumo Interventional Systems DONATED SERVICES Melissa Blackburn, Graphic Designer Karen Lange — Thank you for creating such a lovely collage for Dr. Faughnan’s tribute. Travis C. Berry, Photographer SCHOLARSHIP DONATIONS Anonymous Donor Elliot and Carol Engberg Don and Debra Drysdale Michelle Mentges Patrick Stachelek Dr. Robert and Mrs. Pat Kelly White RESEARCH GRANT DONORS Anonymous Donor Marc and Diana Meiches Michael Nolan and the Grace Nolan Foundation VOLUNTEERS FROMTHE CHICAGO AREA Sandy Lurie Art Lurie Lindsey Lurie Daryl Anisfeld Michael Anisfeld Ron Gaskins Rita Gaskins Lori Spangenberg Reta Kunz-Jankowski Byron Foster Lynne Sekarski Teri Colmar Cathy Ryder Ilene Cablk 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. Anonymous Donor Chuck & Oranee Abbott Michael & Daryl Anisfeld Melissa Blackburn Bea Breslaw Richard Butler Mr. & Mrs. Craig Colmar Don & Deb Drysdale Brian & Penny Fife Dr. James Gossage John Huisenga Richard Hutman Jean Johnson Dr. Michele Letarte Shirley Levine Jennifer Lewis Marge Lewter Dr. & Mrs. Steven Lindheim Art & Sandy Lurie Jack & Ruth McMahon Parks & Kathryn Moss Mike Nolan Alexandra Nowack Beth Plahn Brian Reed Dennis & Maureen Routledge Joelle Sagner John & Jane Shalam Stephen & Jane Silk Dolores Snyder Vera Sprecher David & Joanna Stoner Matthew Tilker Michael & Nichol Timothy Karen Jo Whittlesey Angelica Boutique ARUP Labs Baltimore Ravens Belfair Golf Club Berkeley Golf Club Blackburn Arts Charlie Palmer Steak Clyde’s Restaurant Cookie Lee Jewelry Coors Light Duffy Electric Boat Company Ehrlooms Fine Jewelry Green Bay Packers Haig Point Golf Club HHT Foundation International, Inc. Hilton San Francisco Indianapolis Colts Jimmy Kimmel Live Law Office of Don Drysdale Long Cove Golf Club Manhattan Beachware Marriott Newport Beach Bayview Mrs. Prindables Phoenix Park Hotel Rotenier, Ltd. Spa Gregorie’s St. John’s Coffee Roasters The Monocle The Scotch Malt Whisky Society University of Pennsylvania DNA Diagnostic Lab 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 Conference Auction Committee Speakers HHT Foundation Board of Directors The HHT Foundation Staff and Members Over 150 items were donated by Corporations, members, their families and friends, to support the mission of the HHT Foundation.
  8. 8. 8 Direct Connection HHT: Osler-Weber-Rendu A Family of Devoted Staff and Board Members Countless hours of planning and preparation goes into designing a conference of this magnitude. Each person in our family had a job to do. Some were constantly moving audio visual equipment from one room 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. 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 ComingTogether for Different Reasons This year, more than other years, families came to the conference together… Husbands and wives, brothers and sisters, in-laws, aunts and nieces, parent and child. Although everyone received the same information at the conference, not everyone was there for the same reason. 14thNationalPatientandFamilyConference Hereditary Hemorrhagic Telangiectasia (HHT) is a family affair and that was never more evident than at this year’s conference in Chicago, Illinois on September 26-28, 2008. A Family of Physicians and Scientists Over three days, twenty-six doctors specializing in Pediatrics, Pulmonology (Lung), Hematology (Blood), Gastroenterology (GI), Otolaryngology (ENT), Neurology (Brain), and Interventional Radiology presented the symptoms, manifestations, treatments and management of HHT in each area of the body. In addition, we heard from scientists currently performing studies in the area of HHT. The research ranged 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. These physicians and scientists took a very complicated, multi- discipline, genetic disorder and broke it down into a medical condition that we can all understand. Although the fundamental basis of this disorder remains the same, the medical community is constantly fine tuning the treatment and management approaches. Eric Johnson, an HHT Foundation member from Farragut, Tennessee, commented, “I have attended the last 3-4 conferences and not one of them has been the same. The changes in treatment are huge just in the last two years!” This is because our family of physicians and scientists are dedicated to improving the lives of those affected by HHT. Nicole Schaefer, Director of Operations Dr. Joshua Murphy, Dr. Andy White, Dr. Jay Piccirillo, Dr. Douglas Ross Joel Rosner (Board Member), Sharon Williams (Legislative and RNA Manager) talking with Foundation members. David Stoner (Board Alumni), Don Drysdale (Spouse), Diana Meiches (Board Member), Mary Leigh Krock (Membership Coordinator) Paul Oh, PhD (US), Roberto Zarrabeitia, MD (Spain), Michelle Letarte, PhD (Canada), Marie Faughnan, MD (Canada), Carmelo Bernabeu, PhD (Spain), Bob White, MD (US)
  9. 9. HHT: Osler-Weber-Rendu Direct Connection Family Needing Knowledge and Answers Ann Weaver is an Immunization Nurse Consultant whose husband has HHT. Ann has six children. “My 20 year old son has some heart problems and I am so curious if HHT could have something to do with it. His twin sister has always had sharp pains in her right side and I wonder if she could have telangiectasias or something in her intestines. My 10 year old has frequent nosebleeds and two of my triplets have telangiectasias visible on their face and hands.” As you can see, it was very important to Ann that she and two of her daughters come to this year’s conference. FamilyVolunteeringTogether The key element to a successful conference is volunteers, especially when the conference location is somewhere other than Monkton, MD. Sandy Lurie and Daryl Anisfeld are like family. They have known each other for years, raised their children together, and only recently found out that they both have HHT. Sandy and Daryl worked together to coordinate the auction activities in Chicago. However, each of them solicited the help of their family to make the event come together. Sandy and her husband, Art, donated a portion of the conference promotional items, gathered volunteers to stuff all of the conference bags, and organized several live/silent auction items. In addition, their daughter, Lindsey, helped decorate and organize the silent auction tables for the gala on Saturday night. Daryl and her husband, Mike, collected all of the auction items at their home and transported them to the conference. They also designed, printed, and packaged the Tribute Greeting Cards mentioned in this newsletter in an effort to raise awareness and money for the Foundation. Thank you to both families for making this conference a success on so many levels! Non-HHT Family Members Supporting their HHT Family In a family of six daughters, four of them have HHT. However, it wasn’t until a few years ago that they even realized they had this disorder. One sister, Joyce Nock, discovered she had HHT with 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 Family Ambassador. What makes this story special is that Ruth’s sister Ethel, and Joyce’s husband, Cliff, both attended the conference and neither one of them have HHT. What a testimony of family bond and commitment . . . Ethel and her brother-in-law, Cliff, invested a lot of time into learning more about this genetic family disorder. Overcoming FamilyTragedy Adriana Vera has had an insurmountable amount of tragedy in her family. She and all of her siblings have HHT, along with her nieces and nephews. “My son, Robert, died in 2005 and my 11 year old, Sabrina, has AVMs in her brain, lungs, and liver. I have it in my lungs, liver, and GI but not in my brain.” Many of Adriana’s family members have died, suffered strokes, or experienced severe disability from this disorder. Adrianna and her brother-in-law, Yasuo, attended this conference with her daughter to learn as much as they could about this disorder in an attempt to alter the devastating medical history of their family. “My daughter and I met a lot of good people in Chicago. I would like to help in any way I can. The loss of my son haunts me everyday. Now I am in the same battle with Sabrina.” Multi-Generation Family HHT is an autosomal genetic disorder, meaning it doesn’t skip a generation. However, that doesn’t mean that every family is aware of the generational layers that exist in their family. It is truly something extraordinary to see multiple generations within a family educating themselves about a common condition. Instead of denying the existence of HHT, the Gatto/Castle family embraced it so that the next generation can be proactive with their medical care. Mario and Rosa Gatto with their daughter, Ann Marie Castle, and her children. Adriana Vera with her daughter, Sabrina, and brother-in-law, Yasuo Ito. Ann Weaver with two of her six children Ethel Achuff with her brother-in-law, Cliff Nock and sister, Ruth McMahon. Sandy Lurie and Marianne Clancy Daryl Anisfeld and Marianne Clancy HHT is a family affair and we wouldn’t want it any other way!
  10. 10. Direct Connection HHT: Osler-Weber-Rendu
  11. 11. HHT: Osler-Weber-Rendu Direct Connection 11 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.
  12. 12. Direct Connection HHT: Osler-Weber-Rendu Diane Aschman Elisabetta Buscarini, M.D. Marie Faughnan, M.D, MSc. Urban Geisthoff, M.D. James Gossage, M.D. Michelle Letarte, Ph.D. Paul Oh, Ph.D. Reed Pyeritz, M.D., Ph.D. Karen Swanson, DO Andrew White, M.D. Robert I. White, Jr., M.D. HHTforCliniciansConference-HereditaryHemorrhagicTelangiectasia(HHT):Diagnosis,TreatmentandManagement Nicole Schaefer, Director of Operations Education, Education, Education. That was our theme for 2008. It started with the CDC Conference in March and continued through the first every Accredited Physician Conference. The clinicians that attended this important educational event will impact the lives of thousands! One of the most devastating statistics in HHT is that 9 out of 10 of the HHT population (68,000 US citizens) are not yet diagnosed due to the widespread lack of knowledge by medical professionals. This deficiency in the medical community can have catastrophic affects (i.e., stroke, disability or death) on an HHT family. In an effort to increase the identification of HHT through proper diagnosis and reduce the instance of mismanagement of the disorder, the HHT Foundation, in conjunction with the Northwestern University Feinberg School of Medicine, planned and implemented this accredited physicians training program. The “HHT for Clinicians” conference was a one-day event that ran concurrent with the Patient Conference. It was designed for medical professionals who are likely to encounter HHT patients, among them: internal medicine, otolaryngology, gastroenterology, cardiology, interventional radiology, neurology, genetic counseling, and nursing. The program provided information that is critical to the clinician who is interested in starting a new HHT practice or expanding an existing HHT practice. There were presentations from HHT physicians from every HHT Center of Excellence in North America, as well as leading experts from Europe. Topics included, but were not limited to, genetics of HHT; HHT diagnosis, treatment and management for adults and children; management of anemia; medical treatment of epistaxis; and current research advances and opportunities. This was, by far, the most comprehensive conference that the HHT Foundation has ever presented to the medical community! Although the HHT for Clinicians Conference was a one-day event, two-thirds of the participants decided to join the Patient and Family Conference and stay through the weekend. The interaction with other HHT specialists, patients, and their families was an invaluable benefit of their experience. We are excited to have these individuals join our community and look forward to their continued involvement in HHT. Upon conclusion of the conference, participants will be able to: Define and describe the diagnostic criteria1. for HHT Discuss and identify treatment options for2. Pulmonary and Cerebral AVM Discuss and identify treatment options for3. Epistaxis Discuss and identify treatment options for4. Gastrointestinal and Liver AVM Discuss and demonstrate new potential5. therapies for the management of refractory HHT complications 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 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 for diagnostic and therapeutic procedures. EDUCATIONAL GRANT - Gilead Sciences, Inc. 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 and experimental drug candidate, they seek to improve the care of patients suffering from life- threatening diseases. PROGRAM DESIGNERS AND PRESENTERS A special thank you to Dr. James Gossage for his coordination of this very successful conference.
  13. 13. HHT: Osler-Weber-Rendu Direct Connection 13 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 CHINA The First Affiliated Hospital of China Medical University Shenyang 86-24-83282447 DENMARK Odense University Hospital Odense ENGLAND Hammersmith Hospital London 44.208.383.3269 Hull Royal Infirmary Hull 44 (0) 1482-674608 FRANCE Hospital Ambroise Pare Boulogne Billancourt Cedex 33-0140-94432 Service De Genetique Hotel Dieu, Lyon Cedex 02, 4-72-413295 GERMANY Krankenhaus Holwiede Kliniken der Stadt Koeln Cologne 49-221-8907-12727 University HNO-Klinik D-66421 Homburg/Saar 49-221-8907-12727 Philipps-University Marburg Marburg 49-6421-2866808 Karl-Hansen Medical Center Bad Lippspringe 49-5252-954302 HOLLAND St. Antonius Ziekenhuis Nieuwegein 31.30.609.9111 IRELAND Mercy University Hospital Cork 353-21-2305040 ISRAEL Schneider Children’s Medical Center of Israel Tel Aviv 972-3-9253654 ITALY U.O. di Gastroenterologia ed Endoscopia Digestiva Ospendale Maggiore, Crema 0039.0373.280422 / 280726 University of Bari, Bari 39.080.5478708 JAPAN Akita University Medical Center Akita 81-18-834-111 ext. 6531 NORWAY Rikshospitalet University Hospital, Oslo 47-2307-5593 SPAIN Hospital Sierrallana Torrelavega (Cantabria) 34-942-84740 (8053) US, INTL HHT Foundation International 800-448-6389 ENGLAND FRANCE GERMANY IRELAND ISRAEL Meira Heiman at or ITALY (NORTHERN) ITALY (SOUTHERN) SPAIN Ambry Genetics AlisoViejo, CA 866-262-7943 ARUP Laboratories Salt Lake City, UT 800-242-2787 ext. 3179 HHT Solutions, Inc. Toronto, Canada 416-603-5597 Molecular Genetics Laboratory The Hospital for Sick Children Toronto, Canada 416-813-6590 University of Pennsylvania Philadelphia, PA 215-573-5940 Hereditary Hemorrhagic Telangiectasia (AKA Osler-Weber-Rendu) is a multi-system vascular dysplasia. It is uncommon, but not rare. Approximately 1.2 million people worldwide have HHT. Telangiectases and arteriovenous malformations (AVMs) are the characteristic lesions. HHT has extremely variable expression in terms of both location of lesions and severity of symptoms. It is frequently misdiagnosed in affected individuals. The most commonly affected organs are nose, lungs, GI tract, brain and liver—in that order. HHT is an autosomal dominant genetic disorder. Denovo mutations are rare. A detailed family history shows most cases to be familial. HHT is heterogeneic. Defects in two separate genes are known to cause HHT. 90-95% of individuals with HHT will develop epistaxis by adulthood, but severity varies from infrequent and minor to daily and severe. 90-95% develop at least a few telangiectasia on the skin of the face and/or hands by middle age, but they can be pin point in size. 20% develop significant gastric or intestinal bleeding, but not usually before the decade of the 50’s. 30% have pulmonary arteriovenous malformations (AVMs). 10-15% have at least one cerebral AVM. An unknown percentage have hepatic AVM. The severity of epistaxis or telangiectases of the skin does not correlate with the likelihood to have internal (i.e. Cerebral or pulmonary) AVMs. Severity and symptomology varies tremendously, even between close relatives. Untreated pulmonary AVMs are a common cause of ischemic stroke and brain abscess in HHT families. Untreated cerebral AVMs are a common cause of hemorrhagic stroke in HHT families. Treatments are available for all manifestations of HHT and have evolved significantly in the last decade. HHTTreatmentCentersAroundtheWorld NORTHAMERICA INTERNATIONAL HHTPatientSupportGroups NorthAmericanGeneticLaboratories USA Yale University School of Medicine New Haven, CT 203-737-5395 University of Utah Salt Lake City, UT Toll Free 866-292-4HHT (4448) Oregon Health & Science University Portland, OR 503-494-7660 or 888-222-6478 ext. 7660 Washington University School of Medicine St. Louis, MO (Adults) 877-888-5864 or 314-454-8717 (Pediatrics) 888-503-2237 University of California Medical Center San Diego, CA 888-770-0296 University of Pennsylvania Philadelphia, PA 215-662-4740 Mayo Clinic HHT Center Rochester, MN 507-266-0416 Medical College of Georgia Augusta, GA 706-721-6791 Pulmonary/PulmVasDis.htm CANADA Toronto HHT Center University of Toronto Toronto, Ontario 416-864-6060 ext. 2407 Pediatric HHT Clinic Hospital for Sick Children Toronto, Ontario 416-813-5837 Edmonton HHT Centre University of Alberta 780-407-1479 Montreal HHT Center CHUM, Hotel Dieu 514-890-8000 local 15672
  14. 14. 14 Direct Connection HHT: Osler-Weber-Rendu Carmelo Bernabeu, Ph.D. Chair Centro de Investigaciones Biologicas (Biochemistry) Madrid, Spain Jamie McDonald, M.S., C.G.C. Vice Chair University of Utah (Genetic Counselor) Salt Lake City, UT Marie Faughnan, M.D., Chair Emeritus St.Michael’sHospital(Pulmonology) Toronto, Canada Peter B. Terry, M.D., Past Vice-Chair The Johns Hopkins Hospital (Pulmonology) Baltimore, M.D. Robert I. White Jr., M.D., Chair Emeritus Yale University School of Medicine (Interventional Radiology) New Haven, CT Joyce Bischoff, Ph.D. Harvard Medical School/Children’s Hospital Boston (Scientist) Boston, MA Murray Brilliant, Ph.D. University of Arizona (Molecular Genetics / Board Liaison) Tucson, AZ Elisabetta Buscarini, M.D. Ospedale Maggiori (Gastroenterology/Hepatology) Piacenza & Crema, Italy Mark Chesnutt, M.D. Oregon Health and Science University (Pulmonology) Portland, OR Urban Geisthoff, M.D. Univ. HNO-Klinik (Otolaryngology) Saar, Germany Daniel Goodenberger, M.D. Dallas VAMC (Pulmonology) Dallas, TX Alan Guttmacher, M.D. National Institutes of Health (Medical Genetics) Washington, D.C. Timothy Hla, Ph.D. University of Connecticut Health Center (Scientist) Farmington, CT Luisa Iruela-Arispe, Ph.D. Molecular Biology Institute -UCLA (Scientist) Los Angeles, CA James Jackson, M.D., BS, MRCP, FRCP Hammersmith Hospital (Interventional Radiology) London, U.K. Shelley Kennedy, M.S. Children’s Hospital of Eastern Ontario (Genetic Counselor) Ottawa, Canada Anette Kjeldsen, M.D. Odense University Hospital (Otolaryngology) Odense, Denmark Michelle Letarte, Ph.D. The Hospital for Sick Children (Immunology / Scientist) Toronto, Canada Susan Lewin, M.D. University of Utah (Medical Genetics) Salt Lake City, UT Dean Li, M.D., Ph.D. Eccles Institute of Human Genetics/University of Utah (Scientist) Salt Lake City, UT Jose Miguel Lopez-Novoa, Ph.D. University of Salamanca (Scientist) Salamanca, Spain Hans Jurgen Mager, M.D., Ph.D. St. Antonius Ziekenhuis (Pulmonology) Amersfoort, The Netherlands Douglas A. Marchuk, Ph.D. Duke University (Molecular Genetics / Scientist) Durham, NC Franklin J. Miller, M.D. University of California, San Diego (Interventional Radiology) San Diego, CA Christine Mummery, Ph.D. Hubrecht Laboratory (Scientist) Utrecht, The Netherlands Suk Paul Oh, Ph.D. University of Florida (Scientist) Gainesville, FL Daniel Picus, M.D. Washington University School of Medicine (Interventional Radiology) Clayton, MO Henri Plauchu, M.D., Ph.D. Hotel Dieu (Medical Genetics) Lyon, France Mary Porteous, M.D. Western General Hospital (Medical Genetics) Edinburgh, U.K. Deborah Proctor, M.D. Yale University School of Medicine (Gastroenterology/Hepatology) New Haven, CT Reed Pyeritz, M.D., Ph.D. University of Pennsylvania School of Medicine (Medical Genetics) Philadelphia, PA Douglas Ross, M.D. St. Vincent’s Hospital (Otolaryngology) Bridgeport, CT Carlo Sabba, M.D. University of Bari (Gastroenterology/Hepatology) Bari, Italy Claire Shovlin, M.D., MA, FRCP, Ph.D. NHLI/Imperial College (Pulmonology) London, U.K Dennis Sprecher, M.D. GlaxoSmithKline (Cardiology / Board Liaison), King of Prussia, PA Karel G. TerBrugge, M.D., FRCP. (C) University of Toronto (Interventional Neuroradiology) Toronto, Canada Calvin Vary, Ph.D. Maine Medical Center Research Institute (Scientist) Pine Point, ME C.J.J. Westermann, M.D., Ph.D. St. Antonius Ziekenhuis (Pulmonology) Nieuwegein, The Netherlands Lawrence Young, M.D. Yale University School of Medicine (Cardiology) New Haven, CT BECOME A MEMBER! 1. RenewyourHHTFoundationmembershipeachyear.Youcan automaticallyrenewbycreditcardandavoidreceivingrenewal noticesandmailingchecks. 2. Gift Membershipsareawonderfulwaytosupportthe Foundationwhilekeepingfamilymembersorhealthcareproviders informed. DONATE! 3. General Donations— Givewhateveryoucantosupport theFoundation’soverallmissionofeducation,advocacy,patient support,andresearchtowardsacure. 4. Annual Appeal— EveryDecemberyouwillreceivean AnnualAppealletter.Everygiftcounts!Doesyourcompanyhavea matchinggiftprogram?Ifso,youcandoubleyourcontribution. 5. Tributes— Considermakingatax-deductibledonationtothe HHTFoundationinhonorofyourlovedone’sbirthdayoranniversary. And,astheholidaysrollaround,howabouthonoringyourfriends andfamilywithatributegift.Wewillnotifythehonoreeandlet themknowofyourgenerouscontribution. 6. Memorials— ConsideradonationtoHHTFoundationinlieu offlowerstorememberalovedone. 7. Name the HHT Foundation in Your Will— CalltheFoundationofficeformoreinformation. MAKE USE OF UNITED WAY, COMBINED FEDERAL CAMPAIGN, OR OTHER GIVING PROGRAMS! 8. If your workplace has a United Way campaign, thinkofthe Foundationwhenyouplanyourgiving.IfyouareintheU.S.military oraFederalemployee,theCFCworksjustthesameway.Usethe Foundation’sCFCnumbertodesignatetheHHTFoundationasthe beneficiaryofyourpayrolldeductionprogram.CFCNumber:10233 USE THESE WEBSITES Wehaveestablishedseveralpartnershipswithwebsites/organizations thatprovideaportionoftheirprofitsorsalestotheHHTFoundation.We allshoponlineorsearchtheinternet.Didyouknowyoucouldearnmoney fortheFoundationdoingtheseactivities?We’renotaskingyoutobuyor searchforthingsyoudon’tneed,butifyouaregoingtosearchorshop online,pleasetrythesiteslistedbelow.Ifeverymemberbegantouseone ormoreofthesesitesonaregularbasis,themoneyraisedwouldincrease exponentially.Giveitatry! 9. www.goodshop .com— SetGoodSearch.comasyour homepagedefault.GoodSearchisasearchenginepoweredby Yahoothatdonates50%ofitsrevenuestothecharitiesandschools designatedbyitsusers.Spreadthewordtoyourfriendsandfamily andaskthemtoputwww.goodsearch.comastheirinternethome pagedefault.ThemorepeopleuseGoodSearch,themoremoney willbedirectedtowardHHT.youcannowshoponwww.goodshop. comatstoreslikeTarget,BestBuy,Walmart,LLBeanandmany more.Yourpurchasewillearn.5%-4%ofthepurchasepricewhich willbedonatedtothecharityofyourchoice(i.e.,HHTFoundation). 10.— Thiswebsitewillacceptdonationsforautomobiles,boats,trucks, RV’s,motorcycles,jetskis,snowmobiles,planes,andrealestate. 11.— Shop735participatingonlinestores withproductsforhomeoroffice(orgiftcards)viathischaritable websiteandapercentageofeachpurchasecanbeforwardedon totheFoundation.NewiGivemembersearnextramoneyfortheir cause(HHT)justforjoining. 12.— Theholidaysarequicklyapproachingandweallneedcards.A percentageofthepriceofeachcardpurchasedisdonatedtothe Foundation.JustclickontheHHTlogounder“OurSupported Foundations”andyou’reonyourway. 13. or— YoucaneasilydonatetotheFoundationviathesewebsites. TheAmericanExpressProgramevenletsyouuseyour RewardsPointstogive! GET INVOLVED! 14. Plan a Fundraising or Awareness Event— Youcanplananeventanytimeoftheyear.ContactSharonWilliams 15. Volunteer Your Time— TheHHTFoundationisalways lookingforvolunteerstohelpstartaRegionalNetworkingAlliance, helpwithevents,serveontheBoardofDirectors,orassistwithyour specificskills.YourtimeisavaluablecontributiontotheFoundation! 16. Tell Someone About HHT— It’sthatsimple!Share HHTFoundationmaterials,ournumber(800-448-6389),ourwebsite address(,ourlistofHHTTreatmentCenterswith family,friends,physicians,anddentists.Educateeveryoneyoucan! How Can You Help the HHT Foundation International? 15 EASY WAYS TO GIVE GLOBAL RESEARCH AND MEDICAL ADVISORY BOARD
  15. 15. HHT: Osler-Weber-Rendu Direct Connection 15 We are pleased to announce that effective July 1, 2008, Ambry Genetics began to offer HHT Genetic Testing in North America. Ambry Genetics is located in Aliso Viejo, CA and they are the primary genetic testing service for cystic fibrosis, pulmonary arterial hypertension, and many other genetic disorders. This laboratory is now able to test for HHT1, HHT2, and Juvenile Polyposis (SMAD4). The vast majority of testing done at Ambry is covered by insurance and they offer insurance pre-verification. Ambry Genetics can work with HHT Centers or primary care physicians. Their pricing is competitive with other laboratories and their turnaround time ranges from 10 days for a family mutation to 2-4 weeks for a proband. Steve Keiles, Director of Genetic Services at Ambry Genetics, attended the HHT CDC Conference in March 2008. As the President- Elect for the National Society of Genetic Counselors, Mr. Keiles was inspired by the information presented at the HHT Health Initiatives for the 21st Century Conference. During that meeting, it became clear to him that his organization could play an active role in increasing the identification of those affected by HHT. Within months, Ambry Genetics was actively processing HHT samples! Thank you for your enthusiasm and commitment to this disorder. For more information, please visit their website at or call 866-262-7943. Dr. Douglas Ross, our esteemed colleague who has pioneered many therapies for nosebleeds associated with HHT, has accepted a position at St. Vincent’s Hospital in Bridgeport, Connecticut, as Chairman of the Department of Surgery. St. Vincent’s is within twenty minutes of the Yale campus and Dr. Ross will remain a vital part of our HHT team. Beginning in November 2008, he resumed his specialized care for patients with HHT in his new location. If you have any questions, please call the Yale HHT Center of Excellence at 203-737-5395 or email us at SCIENTIFICANDMEDICALUPDATE NewHHTGeneticTestingLaboratory AmbryGenetics DrugSafetyAlert Phenylpropanolamine The Food and Drug Administration (FDA) is issuing a public health advisory concerning phenylpropanolamine hydrochloride. This drug is widely used as a nasal decongestant (in over- the-counter and prescription drug products) and for weight control (in over-the-counter drug products). FDA is taking steps to remove phenylpropanolamine from all drug products and has requested that all drug companies discontinue marketing products containing phenylpropanolamine. A recent study reported that taking phenylpropanolamine increases the risk of hemorrhagic stroke (bleeding into the brain or into tissue surrounding the brain). Although the risk of hemorrhagic stroke is very low, the FDA’s Nonprescription Drugs Advisory Committee (NDAC) determined that there is an association between phenylpropanolamine and hemorrhagic stroke and recommended that phenylpropanolamine not be considered safe for over-the-counter use. In the meantime, consumers can identify over-the-counter cough- cold, nasal decongestant, and weight control products containing this ingredient by looking for “phenylpropanolamine” in the list of active ingredients on the label. Consumers can check with their health care provider or pharmacist to see whether their prescription cough-cold or nasal decongestant product contains phenylpropanolamine. The FDA advises consumers to discuss alternative over-the-counter and prescription products with their health care providers or pharmacists. According to Dr. James Gossage, HHT Foundation Medical Director, “It has only been associated with intracranial bleeding and HHT patients with cerebral AVM(s) would likely be at increased risk. HHT patients using this drug are not at risk of bleeding anywhere else.” For more information, go to: Ambry Genetics AlisoViejo, CA 866-262-7943 ARUP Laboratories Salt Lake City, UT 800-242-2787 ext. 3179 HHT Solutions, Inc. Toronto, Canada 416-603-5597 Molecular Genetics Laboratory The Hospital for Sick Children Toronto, Canada 416-813-6590 University of Pennsylvania Philadelphia, PA 215-573-5940 NorthAmericanGeneticTestingLaboratories The following medications contain Phenylpropanolamine. This is not a complete list. Check your medication labels or contact your physician. Acutrim Dietary products Alka-Seltzer Plus products BC allergy & sinus Contac Cold products Dexatrim products Dimetapp Cold products Robitussin CF Tavist-D Triaminic Cold products
  16. 16. 16 Direct Connection HHT: Osler-Weber-Rendu In March 2008, the HHT Foundation held its first collaborative meeting with the Centers for Disease Control and Prevention (CDC). The goal of this conference was to define and prioritize ways to improve clinical outcomes, enhance the quality of life for those affected by HHT, and reduce intrinsic and extrinsic costs related to HHT treatment. We have achieved extraordinary accomplishments during the last nine months through the partnerships that were made at this conference. We truly appreciate the enthusiasm, support, and continued commitment that these individuals, professional associations, and companies have made on behalf of the HHT Community. Dr. Leonard Valentino, Associate Professor of Pediatrics/ Internal Medicine at RUSH University and President of the Hemophilia and Thrombosis Research Society (HTRS), arranged for the HHT Foundation to be an exhibitor at their 2008 Annual Scientific Symposium in Chicago, IL on April 17-19th. Marianne Clancy, Executive Director, and Nicole Schaefer, Director of Operations, will represent the Foundation, present an educational poster on HHT, and provide HHT literature to hundreds of Hematologists. Through Dr. Valentino and the HTRS meeting, the HHT Foundation connected with Dr. David Green, Professor of Medicine, Division of Hematology/Oncology at Northwestern University Feinberg School of Medicine (NWFSM). Dr. Green currently treats several HHT patients in the Chicago area and agreed to sponsor our first accredited Physician Conference. Typically, a training program of this magnitude takes eighteen months to coordinate. However, through the tremendous efforts of Dr Green, the staff at Northwestern University and the HHT Foundation, along with our HHT specialists that agreed to present at the conference, this program was completed within five months! The Continuing Medical Education (CME) conference was very well received by the 25 attendees. Now, the Foundation has a template program and relationship with NWFSM that can be repeated across the country. Dr. Valentino also wrote an article entitled, “Blood Flows Everywhere: Hereditary Hemorrhagic Telangiectasia” that was published in the American Academy of Pediatrics News journal. Dr. Valentino’s article describes with great detail the diagnostic criteria for HHT, the manifestations of HHT, and the genetics of the disorder. He went on to reference the CDC meeting and the importance of timely diagnosis and treatment. We applaud Dr. Valentino for his initiative and desire to make more pediatricians aware of HHT. Steven Keiles, MS, CGC, Director of Genetic Services at Ambry 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). The CDC invited their Regional Hemophilia Treatment Center (HTC) Directors to attend the meeting in March. Of the eight centers that participated in the meeting, two have started to educate their staff about the incidence, symptoms, treatment of HHT. Indiana University and University of North Carolina, Chapel Hill hemophilia centers are starting to identify HHT as calls and patients come into their facility. The Directors of both HTCs have contacted Dr. Gossage, HHT Foundation Medical Director, about becoming an HHT Treatment Center of Excellence. We are excited about the possibilities of partnering with Hemophilia Thrombosis Centers throughout the United States. This year, the 14th Patient and Family Conference provided workshops on key issues facing families affected by HHT. Tia Campbell, RN, MSN, NCSN from the National Association of School Nurses attended the CDC meeting in March and graciously agreed to lead a workshop on Helping Your Child’s School Understand HHT. In addition, Ella Hushagen, Health Policy Analyst from FamiliesUSA, presented several informative workshops on medical insurance issues and resources. Ms. Hushagen went the extra mile and wrote a comprehensive article for this newsletter that highlights the materials she distributed during her workshop. During the CDC meeting it was determined that, in order to increase our chances of receiving federal funding, the HHT Foundation needed a better understand the effectiveness and economic impact of education, research, and treatment options for HHT and other vascular or genetic conditions. In this capacity, Dr. Reed Pyeritz’ team at The University of Pennsylvania CIGHT study (which is explained in detail on page 19) will be collecting and analyzing data for four research projects, one of which is specific to HHT. Specifically, they will be examining the utilization & impact of a new diagnostic test for HHT. Finally, in order to advance the HHT Initiative into the 21st Century, there is a critical need for the development of an HHT Physician Registry and a national database of HHT patients. The HHT Foundation is currently working with individuals in the HHT Community to determine the basic structure, purpose, and cost associated with the development of these two database systems. This project is a work in progress. It is with sincere thanks and appreciation that we highlight these individuals and their activities with the HHT Foundation. We are constantly creating new relationships which, in turn, present new opportunities for us to pursue. We look forward to what 2009 has to offer! SCIENTIFICANDMEDICALUPDATE HHTHealthInitiativeforthe21stCentury CDCConferenceUpdate Nicole Schaefer, Director of Operations
  17. 17. HHT: Osler-Weber-Rendu Direct Connection 17 Excerpt from BBC News Dr. Joyce Bischoff, Scientist at Harvard Medical School and member of the HHT Foundation Global Research and Medical Advisory Board (GRMAB), recently conducted a study that was published in the journal Circulation Research, uses two types of “progenitor” cells, which have the ability, like stem cells, to form different cell types. In this case, the “endothelial” progenitor cells have the ability to form the cells which line blood vessels, while “mesenchymal” progenitor cells can form the cells adjacent to this lining, which help to support it. These progenitor cells were mixed together in growth-promoting chemicals in the laboratory, then implanted into mice whose immune systems had been weakened. Within seven days, a “vigorous network” of new vessels formed, joined up with the host animal’s blood vessels, and started transporting blood. The ability to develop swiftly a new network of tiny blood vessels known as capillaries, would be a prize for scientists. There are dozens of potential applications in medicine, particularly in the treatment of conditions which involve damage to a tissue’s blood supply, such as that to the heart muscle following a heart attack. Dr. Joyce Bischoff, who lead the research team, said, “What’s really significant about our study is that we are using human cells that can be obtained from blood or bone marrow rather than removing and using fully developed blood vessels.” Dr. Nick Rhodes, from the UK Centre for Tissue Engineering at the University of Liverpool, said that the results were “interesting” and “promising.” “Although this approach is not yet suitable for clinical use, it is interesting that they have demonstrated you have all the elements you need to create a functional network of capillaries from a small amount of blood.” This type of research provides a critical foundation for future science and clinical studies that could potentially alter the symptomatic progression of HHT. Thank you, Dr. Bischoff, for your creativity and determination to impact the development of blood vessels — the very heart of this disorder. Alan Edward Guttmacher, M.D., a nationally recognized pediatrician and medical geneticist who has played major leadership roles at the National Human Genome Research Institute (NHGRI) for nearly a decade, became Acting Director of NHGRI on Aug. 2, 2008. He replaces Francis S. Collins, M.D., Ph.D., who stepped down after 15 years at the helm of NHGRI to pursue other professional opportunities. Dr. Alan Guttmacher is a highly valued member of the HHT Global Research and Medical Advisory Board and a long time friend of the HHT Foundation. He received the HHT Foundation International Scientific Leadership Award in 2006. It was Dr. Guttmacher that, together with Doug Marchuk, Ph.D., found the first HHT gene. “Dr. Guttmacher has provided excellent leadership for the institute, as well as participating in many trans-NIH efforts. His service as Acting Director at NHGRI will ensure a seamless transition,” said National Institutes of Health (NIH) Director, Elias A. Zerhouni, M.D., in naming Dr. Guttmacher to the post. “I am sure that you will join me in offering thanks and good wishes to Francis, as well as offering Alan full support as he takes on the additional responsibilities of guiding NHGRI.” In addition to his involvement in spreading the word of genomics among health professionals, Dr. Guttmacher is instrumental in NHGRI’s efforts to reach out to the public. He has overseen NIH’s involvement in The U.S. Surgeon General’s Family History Initiative, an effort to encourage all Americans to learn about and use their families’ health histories to improve their health. In fact, you can print a copy of this Family History Tool from the HHT website, www.hht. org, or from the NIH website It is with great pleasure that we congratulate Dr. Pinar Bayrak-Toydemir for her award of $20,000 for the 2008 Young Investigators Grant sponsored by the HHT Foundation International. Dr. Bayrak- Toydemir’s research is seeking to identify a caus- ative mutation, gene, or loci in patients/families with HHT for whom linkage to HHT1 and HHT2 loci have been excluded. Her proposal is focused on the discovery of gene(s) not yet identified as a molecular cause for the HHT disease. Her study is designed to identify molecular genetic character- istics of the HHT disease. The results of this research will provide new insight into blood vessel development by adding one piece to the puzzle that represents the current understanding of vascular development and dysfunction. This information will also be important for molecular diag- nosis of HHT patients and identification of at risk family members. Dr. Bayrak-Toydemir’s proposal was deemed the strongest of all of those submitted and in the words of the evaluators, “We were impressed by the commitment of the applicant to the field of HHT research, the research environment, and the design of the study. Investment in this work may lead to the identification of a fourth HHT causing gene.” Dr. Bayrak-Toydemir is the Associate Medical Director of the Molecular Genetics Laboratory at ARUP. Dr. Bayrak-Toydemir received her M.D. from Ankara University School of Medicine in Ankara, Turkey, where she also received her Ph.D. in Human Genetics. As a second year Assistant Professor of Pathology at the University of Utah, she states, “It is an honor to be the recipient of the 2008 Young Investigator’s Grant sponsored by the HHT Foundation International. I will work hard to find the fourth HHT-causing gene!” Thank you, Dr. Bayrak-Toydemir, for your dedication to HHT and determination to find the molecular cause of this disorder. We are proud to have you on our team and look forward to hearing about your findings. SCIENTIFICANDMEDICALUPDATE RESEARCHUPDATE NATIONALHUMANGENOMERESEARCHINSTITUTE AlanE.Guttmacher,M.D., BecomesNHGRI’sActingDirector GeneticistWillLeadEffortstoBringthePromiseofGenomicSciencetoHealthCare HumanBloodVessels GrowninMice YoungInvestigatorGrantAwardedtoPinarBayrak-Toydemir,M.D.,Ph.D.
  18. 18. 18 Direct Connection HHT: Osler-Weber-Rendu Reprinted from Chicago Conference handouts — To date, the HHT Foundation has funded 9 mechanism of disease research grants and 2 treatment of disease research grants—six have been completed, two are in progress, and three have just been awarded – for a total of $454,375! Each of these studies has taken HHT to the next step in identifying, diagnosing, and treating this disorder. The most recently completed studies are summarized below. Study: TGF- Activates eNOS and Regulates Vasomotor Function by an Endoglin- and ALK-1- Dependent Mechanism Researcher: Michelle Letarte, PhD, Senior Scientist, Molecular Structure and Function Program, Hospital for Sick Children and Professor of Immunology, Medical Biophysics and Pediatrics Amount Awarded: $50,000 Summary: The Endoglin and ALK1 genes are mutated in HHT1 and HHT2 respectively. The Endoglin and ALK1 proteins are encoded by their respective genes and are the functional molecules in the cells. Both proteins are found mostly in endothelial cells, which line the blood vessels. Endoglin and ALK1 in fact interact with one another at the surface of the cells and are therefore involved in related molecular pathways. Both proteins are receptors for growth factors called TGF- 1 and BMP9, which are very important for blood vessel functions. Our studies have shown that Endoglin binds to an enzyme called eNOS (endothelial Nitric Oxide Synthase) which is responsible for the production of Nitric Oxide (NO). This NO is the most potent vasodilator and is responsible for blood vessel relaxation. We have also shown that TGF- 1 and BMP9 can stimulate eNOS and the release of NO, and therefore regulate this function of blood vessels. So under normal circumstances, there is a big complex in the endothelial cells comprised of Endoglin, ALK1 plus other receptors and the eNOS machinery. This large complex allows the blood vessels to dilate in response to TGF- 1 and BMP9. In HHT1, the cells have a mutation in the Endoglin gene, and produce half the amount of endoglin protein, as we showed previously. In HHT2, the cells have an ALK1 mutation, and make half the amount of the corresponding ALK1 protein. As a consequence, the complex between TGF- 1 and BMP9 receptors, which requires Endoglin and ALK1, cannot form properly and is very unstable. This leads to an “uncoupling” of the eNOS machinery and production of more superoxide and less NO. Superoxide is a damaging agent that oxidizes proteins and lipids, interfering with their functions. This in turn may lead to initiation of vascular lesions. Anti- oxidants are capable of blocking the effects of superoxide and can therefore be used in a disease model, when one suspects that superoxide is causing problems. You may recall from previous meetings that my research team had previously engineered a mouse expressing a single copy of the Endoglin gene, called the Eng+/- or heterozygous mouse, which is a model for studies of HHT1. Similarly, Dr Paul Oh engineered a mouse with only one functional copy of the ALKI gene, referred to as the Alk1+/- or heterozygous mouse, a model for HHT2. Recently, we have investigated the lung vasculature of the heterozygous mice to see whether any abnormalities could be detected and whether superoxide was implicated. We also tested if treatment with an anti-oxidant, named Tempol, could prevent the onset of disease manifestations in the heterozygous mice. What we saw was quite surprising. We used several imaging techniques adapted for mice, including X-ray micro CT. This technique requires perfusion of the lung vessels with an opaque substance (MicrofilTM), which flows from the arterial to the venous side, through the capillary bed and allows vessel imaging. Therefore, one can detect potential abnormalities in the vascular tree. The images were comparable for 3 week-old heterozygous and control mice, showing full perfusion from arterial to venous side and a normal capillary bed. However, in 8 week-old (adult) heterozygous mice, the central arteries were dilated, the peripheral arterioles were much less abundant and thicker and the venous side was often not perfused. This suggested increased vascular resistance, characteristic of pulmonary arterial hypertension. We measured the right ventricular systolic pressure (a way to assess pulmonary arterial pressure) and found that it was significantly elevated in the adult Eng+/- mice relative to the control mice. We also looked at lung sections from the mice and confirmed a reduction in the number of small peripheral arterioles and those had thicker walls, again suggesting increased resistance to flow. Heart remodeling, which occurs subsequent to a rise in pulmonary vascular resistance, was also observed in older heterozygous mice. Since the lung vasculature was normal at 3 weeks but abnormal from 8 weeks of age, we treated the mice with the anti-oxidant Tempol in their drinking water, starting at 3 weeks and for a period of six weeks. At 9 weeks, we examined the lung vasculature of the mice and tested all parameters described above. Our preliminary results suggest that the anti-oxidant has a beneficial effect and is able to prevent the rise in pressure and the lung remodeling observed in the untreated heterozygous mice. The observation that anti-oxidant may prevent the changes seen in the lung vessels of the mouse models of disease implies that superoxide might be involved. We are, therefore, measuring the levels of superoxide in lungs and plasma of the mice and expect higher superoxide in the untreated Eng+/- and Alk1+/- mice and return to normal levels in the treated mice. We also want to know if the superoxide is produced exclusively by eNOS or if other enzymes are implicated. Our collaborators are pushing the resolution of the X-ray micro CT and we hope to use this technique to screen the vasculature in different mouse organs and monitor the effects of various treatments on blood vessel remodeling. Our future work is to test if the treatment of adult mice with Tempol will in fact reverse the pathological changes observed in the lung vessels of adult Eng+/- and Alk1+/- mice. Anti-oxidants, such as Tempol, may represent a novel therapeutic model for HHT patients. “We are very grateful to the HHT Foundation International for awarding us this grant and thank all of you for your kind donations. Our daily efforts are devoted to understanding the underlying mechanisms of HHT through basic research. We could not do it without your generous financial and moral support.” RESEARCHUPDATE InspiringAdvancesinHHTResearch Dr. Michelle Letarte, Dr Guoxiong Xu, Allison Gregory and Dr Mirjana Jerkic
  19. 19. Most, if not all, human diseases have one or more genetic factors that contribute to cause, likelihood of occur- rence, severity, and response to existing or experimental treatments. There is a general perception that the ability to define a person’s genetic makeup will lead to better health, improved treatments, and a better understanding of risks to other family members. However, many genetic technolo- gies increase uncertainty and confusion in the minds of patients, relatives, doctors, health insurers and others. The Penn CIGHT aims to define these issues better and offer suggestions for reducing the problems of uncertainty. The overall goal of the Penn CIGHT is to develop tools that will help consumers, professionals, policy makers and insurers understand and cope with the scope of certainty and uncertainty that genetic technologies engender. The work of the center is conducted by teams of experts representing a broad range of disciplines, such as medicine, bioethics, law, behavioral and social sciences, clinical research, public policy, economics, and genetic and genomic research. As we mentioned in the Fall 2007 newslet- ter, Dr. Reed Pyeritz, Director of the HHT Center of Excellence at The University of Pennsylvania was awarded $5 million over five years from the National Institutes of Health to form the Center for Integration of Genetic and Healthcare Technologies (Penn CIGHT) and to study the certainty and uncertainty of results from genetic testing. Dr. Pyeritz’ team be col- lecting and analyzing data for four research projects, one of which is specific to HHT: Utilization & Impact of a New Diagnostic Test for HHT: an assessment from the perspec- tives of patients, providers and third party payers of the utility of a genetic test to identify the likelihood of future disease susceptibil- ity, using HHT, a single gene disorder, as an example, led by Barbara Bernhardt, Clinical Associate Professor of Medicine. We wanted to take this opportunity to thank everyone that responded to our request to get involved in this critical research. This study will not find a cure for HHT but it will provide the statistical, disease impact data that we need to get Washington’s attention! To learn more about the Penn CIGHT and the four research projects, go to penncight/index.shtml. RESEARCHUPDATE Pierre Lasjaunias died from a massive myocardial infarc- tion on July 1st of this year. It occurred while he was attending an executive committee meeting of the world federation of neurora- diological societies in Zurich. His untimely death shocked the world of Neuroradiology as he had become one of the main driving forces in that specialty over the past few decades. His background had been a combination of neuro- anatomy and neuroradiology which made him imminently suitable for a career in interven- tional neuroradiology. He became one of the best teachers in his field and his dedication to teaching led him to organize annual courses in Europe and around the world that became the premier courses in interventional neuroradiol- ogy in the world. His expertise included the most difficult aspects of his specialty, pediatric neurovascular diseases and spinal vascular malformations and his contributions in those fields were simply outstanding, resulting in the French govern- ment’s designation of his Institution (Hopital Bicetre) as a national center of excellence in pediatric neurovascular disorders. Pierre’s natural tendency to be a leader result- ed in his involvement with many professional organizations and he was the current President of the World Federation of Interventional and Therapeutic Neuroradiology and the Editor in Chief of the Journal Interventional Neuroradiology. Pierre, for many decades, had a special inter- est in HHT and early on made observations that proved to be very important in the endovascular management of patients with that condition. He was proud to be associated with international organizations specifically focused on improving awareness and management of patients with HHT disorder. In this sense, he was an active member of the Global Research and Medical Advisory Board of the HHT Foundation. While his death left a large void that has impacted patients and colleagues alike, we must be grateful to his contributions that he made to the understanding of neurovascular disorders in particular as they related to HHT. ThankYou ForAnsweringOurCalltoGetInvolvedinResearchatTheUniversityofPennsylvania 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 Dear Colleagues, I was deeply shocked and saddened to learn of Pierre’s death. This sad occasion serves to remind us of how much Pierre has contributed to HHT in general and to the Global Research and Medical Advisory Board (GRMAB) in particu- lar. I was fortunate enough to meet him during the last meeting in Capri, Italy and I will always remember his excellent presentation on cerebro medulary lesions in HHT. Pierre’s scientific and medical contributions are recognized worldwide and his death represents a great loss for the HHT community. On behalf of GRMAB, I would like to extend con- dolences to Pierre’s family. He will be greatly missed. Sincerely, Carmelo Bernabeu, Ph.D. GRMAB Chair HHT: Osler-Weber-Rendu Direct Connection Nicole Schaefer, Director of Operations
  20. 20. Direct Connection HHT: Osler-Weber-Rendu HHT and INTERFERON STUDY This clinical research study is funded by the HHT Foundation International and the Food & Drug Administration (FDA) Office of Orphan Products Development. This study will determine whether Interferon reduces the affects of AVM in various organs. The Mayo HHT Center is actively recruiting/ enrolling HHT patients who are between the ages of 18-70 and: Are transfusion dependent; or Have liver involvement with HHT and heart failure; or Have diffuse lung involvement with low oxygen levels. HHT and JUVENILE POLYPOSIS Doug Marchuk, PhD Scientist, Molecular Genetics Duke University, Durham, NC Dr. Doug Marchuk has an ongoing laboratory research study comparing HHT and Juvenile Polyposis. If you are interested in taking part in this study or just want to learn more about it, please contact: Tracey Leedom, MS, CGC Certified Genetic Counselor Duke University Email: Phone: (919) 668-5335 CURRENTHHTRESEARCHSTUDIES 8th HHT International Scientific Conference Every two years the HHT scientific community gathers for an internation- al conference. This confer- ence has grown from 40 scientists and clinicians in 1996 to over 150 partici- pants in 2007. The 2009 Organizing Committee has developed a program that will include a wide variety of topics with speakers and sessions devoted to the most recent medical advances in HHT basic science, clinical research, and therapeutics. The Organizing Committee is dedicated to attracting clinicians, researchers, and representatives of patient associations from around the world in order to advance HHT and enhance the lives of HHT patients. A website,, has been established to facilitate registrations, hotel reservations, and abstract sub- missions. In addition, the website provides general informa- tion about the city of Santander, the venue, and activities for friends/family not attending the conference. This site is updated on a regular basis with the latest news concerning the program and general details about the conference. The 8th HHT International Scientific Conference is spon- sored in part by the Grace Nolan Foundation and the HHT Foundation International. If you have any questions, you can contact Dr. Roberto Zarrabeitia by email at hht2009@ , by telephone at 34-942847400 (8053), or by fax at 34-942847501. We look forward to seeing you in Spain this coming May! Organizing Committee: Carlmelo Bernabeu, PhD (Scientific Chair); Roberto Zarrabeitia, MD (Conference Host); Marie Faughnan, MD, MSc.; Urban Geisthoff, MD; Paul Oh, PhD; Carlo Sabba, MD; James Gossage, MD; Marianne Clancy, Executive Director, HHT Foundation International YOUcanhelpadvanceHHTResearch Save the Date 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 THALIDOMIDE STUDY Thalidomide and gastrointestinal bleeding: A research study is recruiting HHT patients who have gastrointestinal bleeding and require blood transfusions. This study will determine whether thalidomide reduces the need for blood transfusions. This is a controlled study of oral Thalidomide in patients with gastrointestinal bleeding due to telangiectasias in the stomach and small intestines, many of whom will have HHT. The patients will be monitored by physical exam and blood tests. Patients will be on Thalidomide for 24 weeks (six months). We will continue to monitor patients for 24 weeks after they stop taking Thalidomide. Eligible patients MUST: have received at least 4 units of blood transfusion in the past two years and be able to travel to one of the two study sites once a month for monitoring (1) Medical College of Georgia or (2) Northport VA in Long Island, NY (Sometimes the VA will make travel arrangements for patients to be sent to another VA for treatment) For more information: VARIOUS CLINICAL TRIALS You can check ongoing HHT clinical trials through the website www. You must spell out Hereditary Hemorrhagic Telangiectasia in the search box. This website will not acknowledge the abbreviation HHT. Jim Gossage, MD Director, HHT Center of Excellence Medical College of Georgia (706) 721-6791 Email: Atul Kumar, MD Assistant Professor of Medicine Stony Brook University (631) 261-4400 x5765 Email: Karen Swanson, DO Director, HHT Center Mayo Clinic College of Medicine (507) 266-0416 Jim Gossage, MD Director, HHT Center Medical College of Georgia (706) 721-6791
  21. 21. I have HHT. It is extreme, and sooner rather than later, it will claim my life. If I can write an open letter telling of my experience and perhaps urging you to tenaciously seek early treatment of possible symptoms, then my time here will have been worthwhile. Perhaps, during your lifetime, prevention/cure for HHT will be developed. But, to participate in making that cure happen, I believe you first must listen to my story: I am 64 years old. I suffered from nosebleeds and arrhythmia in my 20s. I thought it was stress brought on by college and then by working and raising a family. Then, about 8 years ago, I developed a noticeable heart murmur. Cardiology begins! Coronary symptoms escalated over the next 5 years. Irregular heart rhythm caused shortness of breath (catheter ablation was done unsuccessfully). Then cardiac catheterization followed. The specialist said there was a hole in my heart and could be easily fixed. A solution! Then, he called and said “no hole”, but an anomalous pulmonary vein…a birth defect! But no; the next diagnosis was leaking mitral and tricuspid valves. But I was denied surgery to fix them. My cardiologist said my symptoms didn’t “line up.” All this time my heart function was deteriorating, and the right side was being overworked and enlarging. Three years ago, I was sent to a heart transplant clinic as a candidate. I was scared. This was BIG surgery. The punch line was, “You are not a transplant candidate, because you have HHT!” In that moment, all of the symptoms I’d experienced over the years came into focus! During the next three years, I had a serious intestinal surgery, and bled abnormally, producing a life threatening situation. I returned to the hospital to receive a very large transfusion. (I have had 3 more since then.) I was also admitted to the hospital when I turned blue from excessive fluid in my lungs. I began to suffer from malnutrition because my liver was enlarged and not giving my stomach enough room to hold much food. Enlarged heart, small stomach, enlarged liver, profuse nosebleeds, fatigue…who is this person? It couldn’t be the robust woman who walked 3-4 miles a day and was just learning horseback riding. I came to the realization I was, at the very least, hobbled by HHT. And it would be lifelong. This was mind-numbing. What I have written is not a litany of woes. It is to let you know the long path the HHT afflicted might travel. Currently, I receive iron infusions every week, significant injections of Procrit® weekly, heart medications, a high dose of diuretics and treatment for nosebleeds every 2-3 months. My liver is damaged and does not retain iron so the infusions will be ongoing. The liver AVMs cannot be treated, and transplant is not an option. My heart has been severely damaged because not enough was known to treat my HHT. Yet, I am called a phenomenon by my doctors, because my spirits are always high, and with treatment, I am able to maintain an unexpected level of energy. But there are discouraging days too. What will happen when the symptoms overcome the known treatment? Please remember HHT is genetic, and never skips a generation. Many, still unaware, will be touched by it. Many unborn children will have it. Research is the only way we can break through to the other side, so no one must ever again live under the cloud of a condition of unknown progression, forced to play the roulette of symptom management. I am honored to write a letter that may promote the further research and development of a viable cure for HHT. I am supported by the love and strength of my family. They are the best. One of my sons will be running for HHT in the Long Beach Marathon, to show his support of me and others with HHT. I know you are not all runners, but you CAN help by contributing even $10 to help us reach our goal of 3K. Sincerely, and with great hopes for the future, Advocacy,Education,Fundraising: ThePoweroftheWrittenWord By Arline Williams, HHT Foundation Member 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 We can possibly share your story in the newsletter or on the website. HHT: Osler-Weber-Rendu Direct Connection 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.
  22. 22. Direct Connection HHT: Osler-Weber-Rendu The HHT Foundation has a plan! A plan that will move forward regardless of the economy. A plan that will strengthen HHT awareness to the healthcare community so that you (and your family members) are diagnosed and treated properly. A plan to increase the number of centers so that multi- disciplined teams treating this multi-organ disorder are closer to the seriously impacted members as needed. This plan isn’t in the future. This plan includes the CDC conference, the CME accredited Physician’s Conference in Chicago, and the new HHT Treatment Centers opening this coming year. This plan is NOW! We have heard it said that the cure for HHT will come from a collaborative partnership between the basic research scientists and the clinicians, but it starts with you! The members drive this organization. YOU, the members of the HHT Foundation, will bring about the funding to find the cure, you the members keep the doors open and the lights on…..and YOU are the only thing that can stop the HHT Foundation from moving forward! Please renew your membership, make a donation, call us to volunteer. We are counting on you. Your children are counting on your commitment. My name is Mary Leigh Krock. I am your Membership Coordinator. I am here to support you. I look forward to hearing from you in the coming year. From the Membership Desk… The Grand Rapids Press, Michigan “Genetic disorder HHT still a mystery” Written by Paul R. Kopenkoskey Tuesday October 14, 2008 ssf/2008/10/genetic_disorder_hht_still_a_m. html Colfax Record, California “Meadow Vista woman raises awareness of silent killer” Written by Gloria Beverage October 8, 2008 The Indianapolis Star, Indiana “Teen lives a story of perseverance — Stroke victim coming home after 3-month recovery” Written by Cindy Marshall Posted: September 3, 2008 Times Colonist, Michigan “The nosebleed disease” Chris Zdeb, Canwest News Service Published: Thursday, July 24, 2008 html?id=cf68ba6f-3146-439d-9501-f5a1edd31523 The New York Times Health Guide, New York “Osler-Weber-Rendu Syndrome” April 10, 2008 osler-weber-rendu-syndrome/overview.html Nine out of ten people in the HHT population are not yet diagnosed due to widespread lack of knowledge by both medical professionals and the general public as a whole. It is so important to reach the pub- lic with information about HHT in order to reach the 90% of the HHT population who are currently at risk. One of the best ways to reach the masses with information about HHT is through the press and media. By reaching the masses, individuals that haven’t heard about HHT gain information that can lead to an accurate diagnosis and access to available treatments that could mean the difference between needless disability or premature death and liv- ing a healthy, productive life. The HHT Foundation is extremely grateful to all of the individuals responsible for building public awareness of this disorder. To view recent articles in the media about HHT, type the URL addresses listed below into your web browser. The HHT Foundation International is the ONLY organization advocating for research, education and legislation. While your moment of crisis may have passed, do you want to STAY INFORMED of the latest research, treatments, educational opportunities & regional support? If you have HHT, if you care for someone with HHT, if you want a CURE for HHT, please renew your membership annually. We need your continued support today to improve your quality of life tomorrow! Please renew online at or mail the membership form in this newsletter. Renew today online at