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2002 SADS Conference - SADS UK Homepage

  1. 1. SADS Conference 2002 - Archive INTRODUCTION SUDDEN ARRHYTHMIA/ADULT DEATH SYNDROME Presented by the SADS Foundation, Utah , USA & SADS UK Attendees - Physicians and Families 'Unexpected Sudden Cardiac Death in the Young: A Focus on Genetic Causes of Arrhythmias, Syncope and Sudden Death'. OCTOBER 12 TH AND 13 TH 2002 The Royal College of Physicians London Conference Directors: • Professor A John Camm, MD • Professor of Clinical Cardiology, St George's Hospital Medical School, London University, London, UK; President of the British Cardiac Society • Professor Peter Schwartz, MD • Professor and Chairman, Department of Cardiology, University of Pavia and Policlinico S. Matteo IRCCS, Pavia, Italy • Professor G. Michael Vincent, MD • Professor of Medicine, University of Utah School of Medicine; Chairman, Department of Medicine LDS Hospital; Associate Chairman, University of Utah School of Medicine, Salt Lake City, Utah USA; Founder, SADS Foundation • John Jolly & Anne Jolly • Director and Chairperson of the Ashley Jolly SAD Trust, SADS UK • Alice Lara • Executive Director of the SADS Foundation (worldwide) Salt Lake city, Utah, USA FIRST INTERNATIONAL SADS CONFERENCE, ROYAL COLLEGE OF PHYSICIANS OCTOBER 12 TH AND 13 TH 2002 CONFERENCE OVERVIEW PURPOSE: These genetic disorders are not well known by primary care physicians. Consequently, unnecessary deaths occur due to incorrect diagnoses and treatments. Physicians who are asked to see patients with syncope, or families after an unexplained and unexpected sudden death, are the primary audience for this conference. The course goal is to provide physicians and other health care providers with up to date information on the following conditions in order to save lives of patients at risk. Inherited Long QT syndrome; Drug- induced Long QT syndrome; Brugada syndrome; Catacholaminergic ventricular tachycardia syndrome; idiopathic ventricular fibrillation syndrome; Hypertrophic Cardiomyopathy; Arrhythmogenic Right Ventricular Dysphasia syndrome; idiopathic conduction system disease. At the conclusion of the conference, attendees should be able to recognise the signs and symptoms of each disorder, understand the genetics and need for family member screening, and be prepared to diagnosis, treat and/or appropriately refer to specialists patients at risk for sudden death. DESCRIPTION: Unexpected and unexplained sudden cardiac death in apparently healthy children and young adults is an increasingly recognised and particularly tragic problem. Genetically mediated primary cardiac arrhythmias such as Inherited Long QT syndrome and Brugada syndrome, and cardiomyopathies such as Hypertrophic Cardiomyopathy,
  2. 2. along with prescription and illicit drug use are the common causes. These conditions are effectively treated or avoided, but are often misdiagnosed or unrecognised, leaving patients susceptible to sudden death. Recent applications of molecular genetics and molecular physiology have markedly clarified the genetics, prevalence, pathophysiology, signs and symptoms, and treatment options for these disorders. OBJECTIVES: • Describe the molecular genetics and pathophysiology of each genetic disorder. • Discuss the emerging crisis in drug-induced Long QT syndrome. • Define the phenotype (signs and symptoms) of each disorder. • Clarify the risk of sudden death in each condition. • Develop a diagnostic strategy for identification of each condition. • Discuss current knowledge of treatment options, and appropriate use of currently available treatment modalities. Discuss the need for prophylactic, pre- symptomatic treatment to prevent sudden death. • Emphasize that these conditions are genetically mediated, and family members, including the extended family, must be screened by appropriate testing in order to identify at risk individuals and institute prophylactic therapy. AUDIENCE: General Practitioners & health professionals Family members & general public who are interested in Sudden Adult/Arrhythmia Death Syndrome THE SCIENTIFIC SESSION CO-CHAIRS ARE: Professor A. John Camm, Professor of Clinical Cardiology, Council l or of the Royal College of Physicians and the British Cardiac Society. Professor Peter J. Schwartz, MD, Professor & Chairman, Department of Cardiology, University of Pavia, Pavia, Italy. G. Michael Vincent, M.D., Professor and Associate Chairman of the Department of Internal Medicine at the University of Utah School of Medicine, Chairman of the Department of Internal Medicine at LDS Hospital, and Founder and Chairman of the Board, Sudden Arrhythmia Death Syndromes (SADS) Foundation, Salt Lake City, UT. THE 1ST INTERNATIONAL SADS CONFERENCE, 12 TH AND 13 TH OCTOBER THE ROYAL COLLEGE OF PHYSICIANS, REGENTS PARK Situated in the heart of London at Regents Park with easy access by train and tube, The Royal College of Physicians was a wonderful venue and setting for the Conference. The Royal College of Physicians is the oldest and most prestigious English medical foundation, incorporated by Royal Charter of King Henry VIII in 1518. The Grade 1 listed building had a vast ceremonial staircase and balcony and allowed the many delegates the comfort of being with others, yet not feeling crowded. The balcony gave people plenty of room to spread out at lunch times and it was interesting to look at the wonderful paintings in the portrait gallery. The Royal College of Physicians provided wonderful facilities with state of the art auditoriums to suit the audiences, together with professional service and excellent cuisine. The family conference agenda and objectives were assessed and we obtained a grant from The PPP Foundation. The PPP Foundation awards grants to charities, research organisations, educational institutions and NHS bodies. The Ashley Jolly SAD Trust were delighted to have their support.
  3. 3. Lead up to Conference The time leading up to the conference was an extremely busy time with people requesting information about SADS, queries about the conference and the everyday running of the Trust. The media were particularly interested and prior to the conference Anne spoke on Radio Suffolk live, Radio Essex and Meridian TV News. SADS Member Cherry Legg was featured in the Scottish Sunday Mail telling her personal story and raising awareness about the Long QT Syndrome and the forthcoming SADS Conference. Numerous websites promoted the conference and in the days leading up to and during the conference there was intense media interest and activity. October 11 th BBC News on-line contacted Anne to put an article on their website. SADS member Wendy Allum spoke to them about her daughter Lucy and this was put on-line, together with details of the SADS Conference on news.bbc.co.uk.health. BBC Radio 2 interviewed Anne Jolly about Sudden Arrhythmia Death and this was broadcast several times during the day. During prime time viewing, London Tonight broadcast an interview with Dr Michael Vincent from the SADS Foundation, Utah, USA, which took place at the Royal College of Physicians. He spoke about the tragedy of SADS and the need to make health professionals and the general public aware of little known heart conditions that can cause a sudden arrhythmia death. In the same television broadcast, SADS supporter Karen Smith spoke of how she still lives with the stress of knowing her 16year old daughter has the Long QT Syndrome and she wonders what the best treatment would be for her. October 12th BBC Breakfast interviewed Professor John Camm, consultant cardiologist in Electrophysiology, Chairman of the British Cardiac Society and patron to SADS UK. He was interviewed together with SADS member Michelle Griffiths and her family from Preston. Michelle and her family had come to London for the 1 st International SADS conference. Michelle sadly lost five family members before eventually having the Long QT Syndrome diagnosed within her family. The rest of the family members are now being treated. Together they raised a lot of awareness. BBC Worldwide Radio Service interviewed Pam Husband, Founder of The Canadian SADS Foundation about the conference and this was broadcast worldwide at intervals throughout the day. October 13 th Anne Jolly was interviewed live on air by the London Broadcasting Company (LBC) Radio, about the importance of raising awareness of heart conditions that can cause SADS and the importance of the conference. The Conference Weekend Excitement had reached an all time high and at 6.30am on Saturday as members of SADS UK and The Canadian SADS Foundation were at the Royal College busily erecting the SADS Exhibition Stand to exhibit information from the SADS Foundation, Utah, USA, The Canadian SADS Foundation, SADS Australia and SADS UK. What a welcome sight it was when the tea trolley arrived at 7am to supply us with tea and biscuits. Nancy Busse from The Canadian SADS Foundation travelled to the UK with Kanga the QT (cutie) kangara. Kanga lives with Julie Foley in SADS Australia and holidays with families who are living with the Long QT Syndrome. Julie was unable to attend the conference due to family commitments. She sent her best wishes and she wanted delegates to see
  4. 4. how busy Kanga had been in her travels overseas and all the places she'd visited. Now Kanga could add The 1 st International SADS Conference, London to her list! Below are a few of the people she met. Dr Michael Vincent, Professor of Medicine, Founder of the SADS Foundation USA and Patron to SADS UK. Anne Jolly, Chairman of SADS UK, Alice Lara, Executive Director of the SADS Foundation and John Jolly Director of the Ashley Jolly SAD Trust, SADS UK Andrea Jones who spoke at the conference about her experiences of living with LQT. Katherine Timothy, Cardiac Arrhythmia Genetic Researcher and Co-founder of the SADS Foundation, USA Kanga attracted many delegates whilst they looked at literature and information available on the Exhibition Stand. Pam, Katherine and Alice in the exhibition area. Welcome and Introduction Anne Jolly, Chairman of SADS UK, talks about the importance of people coming together at the conference The presentations were very well received and I thank the speakers again for all their hard work, and for making the presentations easy to understand for non-medical people. Many people remarked on how well this was done. On the Saturday evening Dr Richard Sutton gave an interesting and entertaining talk about Syncope, giving a historical account of swooning and fainting over the years and the reasons for this. Dr Sutton is shown talking with Dr Vincent. A couple of intense but very worthwhile days and at the end of a busy conference people still had plenty they wanted to discuss and share. The SADS Foundation and SADS UK believe there is the need for further conferences to enable people to come together and learn more. The Atlanta Conference will be held on the 22 nd and 23 rd October next year. Details regarding venue for SADS Conference to be held in the UK in 2003 will be notified as soon as possible. It was good to know that the careful thought and planning behind the SADS Conference resulted in the weekend being the resounding success we'd hoped for. It is heartening and moving to hear that so much comfort was gained over the weekend and I thank everybody for their participation! As Katherine Timothy, genetic arrhythmia researcher from Utah said, 'there is a power here, a special kind of energy' and that is what has been described to me in the many thank you cards, letters and e-mails that we received. It was good to hear that so many friendships were forged over the weekend. Alice opens the conference on Sunday morning
  5. 5. Dick and Pam We have been delighted so many people completed and returned the evaluation forms. It is good to hear so many of you enjoyed the conference and learnt a lot from it. Your comments have been very useful in helping us to formulate ideas to structure the conference to be held in the UK next year. We will build on the success of the 1 st International SADS Conference and we would like to make this an annual event. The many people who have been spurred on to work even harder raising awareness in their areas and also further afield have inspired us. They want to help other families and to make sure that doctors understand symptoms that should not be overlooked. Please contact Anne Jolly on 01277 230642 if you would like further literature to pass to your medical community. The Tragedy of Unexpected Sudden Cardiac Death in Young People An estimated 2-3000 apparently fit and healthy, vibrant children and young adults experience unexpected sudden cardiac death in the USA each year from genetically caused disturbances of the heart's rhythm. In the UK current estimates would place the incidence of Sudden Arrhythmia Death Syndrome at between 100 - 500 cases per annum. This is based on research conducted by Imperial College (Royal Brompton) and St George's Hospital Medical School, funded by the British Heart Foundation and to be published in the future. Often the cause of these deaths is not recognised by doctors or even at autopsy by pathologists, and families are left with enormous grief, and fear, fear that another child or children in the family might suffer the same fate. This is a real fear because in many cases each sibling of the child has a 50/50 chance of having the genetic condition, and some might die if not detected and treated. These tragic cardiac events can be prevented, but firstly doctors and the public must be aware that young people can suffer from potentially fatal heart conditions. A very important step in this awareness effort is happening now on the 12 th and 13 th October at the Royal College of Physicians, Regents Park here in London. The Sudden Arrhythmia Death Syndromes (SADS) Foundation of the USA and it's affiliate SADS UK are presenting the 1 st International SADS Foundation Conference on Genetic Causes of Sudden Cardiac Death in the Young in London on October 12,13, 2002 at the Royal College of Physicians. Both scientific and public education sessions on these diseases will be held. This is the first international SADS conference to be held, with plans to hold annual SADS Conferences in major cities throughout the world. The SADS organisations believe that this urgent action must be taken to diminish the risk of these unnecessary and tragic sudden deaths. Medical science has uncovered an increasing number of genetic causes of these events. The prototype disorder, the Long QT syndrome, was first described between 1957 and 1963 in Norway, Ireland and Italy. The genes responsible for Long QT syndrome (LQTS) were identified in studies between 1991 and 1996, and many mutations in the 5 known genes have been characterized. These findings have provided extremely important information about the mechanisms of heart rhythm disturbances, and subsequently, several other similar disorders have been identified, including Brugada syndrome, Idiopathic Ventricular Fibrillation, Idiopathic Conduction System disease, Catacholaminergic Ventricular Tachycardia syndrome, and possibly Hyperkalemic Periodic Paralysis. As the genetics are being clarified, the symptoms and signs are being further defined as well. Sudden and unexpected loss of consciousness, (fainting, the medical term is syncope), cardiac arrest and sudden death are the usual symptoms. Often abnormalities are present on the electrocardiogram (ECG, EKG), but they may be subtle, and are often overlooked by medical personnel even when obvious. These conditions are generally quite treatable, but the diagnosis has to be made before
  6. 6. treatment can be instituted. Unfortunately, many doctors, and the public in general, are not familiar with these disorders, and the diagnosis is not suspected nor considered when a faint or an unexpected cardiac arrest or sudden death occurs. In the absence of this suspicion, the patient is not evaluated for cardiac arrhythmias nor referred to a specialist who could further investigate these possibilities, using the details of the fainting spells, family history and ECG findings. A major physician education and public awareness effort is necessary in order to prevent these unnecessary and tragic events and deaths. In addition to these genetic electrical system disorders, the genetic heart muscle diseases (cardiomyopathies) will also be discussed in detail. These include hypertrophic cardiomyopathy and arrhythomogenic right ventricular dysplasia along with several other conditions. While these disorders may be more easily detected by the doctor than the primary electrical diseases, they are not infrequently subtle and hard to detect without careful investigation, thus may go undetected until a heart rhythm abnormality causes syncope or cardiac arrest. Both the heart electrical system and muscle diseases are inherited, yet often the family members of a diagnosed patient, who may be at risk of having the disease, are not investigated. The need to develop and expand family pedigrees and screen extended family members is crucial, and this will be emphasized at the conference. The Sudden Arrhythmia Death Syndrome (SADS) Foundation of the USA has been involved in educating doctors and the public in the USA since 1991. Now, the SADS Foundation desires to provide this life saving information throughout the world. All doctors are invited to the scientific sessions. Particularly targeted are GP's, Pediatricians and Internal Medicine physicians, the primary care physicians who are the first line of care for the majority of patients. This 1 ½ day scientific conference will inform these physicians about the presentations, clinical findings, diagnosis and treatment of these conditions, and provide an opportunity for the primary care physicians to meet and develop relationships with experts in order to facilitate consultation, referral and patient follow-up. Simultaneous lay public sessions are being held for patients and families of those afflicted with these conditions, or those otherwise interested in syncope and sudden death in the younger population.A highlight of the meeting will be an evening buffet on Saturday evening at which physicians and family members have the opportunity to meet. Synopses of Presentations & Workshops SATURDAY 12 TH OCTOBER Welcome & Introduction - Anne Jolly, Founder and Chairperson of SADS UK E-mail: info@sadsuk.org Presentation 1 - Dr Andrew Grace Consultant Cardiologist, Papworth Hospital Genetics, Heart Disease and Arrhythmias Cardiac arrest due to an arrhythmia is a devastating event. Full investigation is indicated to identify the underlying cause usually found to be coronary artery disease or a structural abnormality of the heart such as cardiomyopathy. Until recently in 5-10% of survivors no cause was found and the episode was labelled as idiopathic ventricular fibrillation meaning no cause was identifiable. The fact that some patients had family
  7. 7. members with similar experiences suggested that specific mechanisms would eventually be identified. The recent findings of genetic causes of these very human clinical problems has opened up the possibilities for identifying the basis of both normal and abnormal heart beats. This talk will provide an overview to the genetics of arrhythmias and show how genetic alterations lead to cardiac arrhythmias. The long-QT syndrome will form the focus of the talk and the Brugada syndrome and Wolff-Parkinson White syndromes will also be discussed. The complex diagnosis and optimal management of these conditions will be covered. The objective is to provide a solid platform to allow a consideration of the effects these conditions have on individuals and on their families. Presentation 2 - Katherine Timothy - Clinical Co-ordinator for Cardiac Arrhythmia Genetic Research Historical Perspective of the Importance of Genetic Research to LQT E-Mail: Katherine.timothy@genetics.utah.edu "Discovering of the Genesis of Sudden Death: a historical perspective on the importance of genetic research and the Long QT Syndrome" Historical account of Family 1532- birth of triplets, unexplained symptoms, sudden death, clinical work of G. Michael Vincent, selection of Mark T. Keating for genetic research project. Process of discovery- linkage studies, candidate gene approach identifies 2 additional genes, discovery of novel gene, cellular physiology studies identifies 2 co-assembling genes, genesis of Jervell and Lange-Nielsen syndrome discovered, Andersen syndrome associated LQT explained. Other yet to be identified causes of sudden death. 11.20 - 11.40 Coffee Break - Dorchester Library Presentation 3 - Pam Husband - Founder of The Canadian SADS Foundation- E:mail Canadian SADS Foundation sads.canada@sympatico.ca Katherine Timothy - Clinical Co-ordinator for Cardiac Arrhythmia Genetic Research Historical Account of People Helping People in LQTS "How New Discoveries are brought about: historical account of people helping people" 1991-Family 1532 Linkage study published. 1992-Organisation of the SADS Foundation. 1994-Pam Husband tells her story in the Toronto Star, organisation of Canadian SADS. 1995-Kotsilidis/Kunkel Family and trip to North Bay, Ontario; Family pedigree structure identified. Family screening of known LQT genes-nothing yet identified.
  8. 8. Improved phenotype/technology-helps to identify new genes? Presentation 4 - Suzanne Brittin - Founder of the Long QT Support Group The Long QT Support Group - E:Mail: lqts_family_supp@hotmail.com A national non-profit, self-help group founded in 1998 by two affected families, who were finding it difficult to obtain information on the condition & its management. There is no membership fee. The group now has an Executive Committee who are all volunteers and a Medical Advisory Board consisting of a Cardiologist, Electrophysiologist, Cardiac Liaison Nurse and General Practitioner. Our web-site is our source of information and families can use this to make contact with us raising concerns and questions. A chat-line for teenagers is available and a newsletter sharing experiences. For a trial period, we ran a help-line offering information and emotional support but we are no longer in a position to man this and it was felt that support through technology was the best way forward. Since starting the group we have sent out 80 information packs to member families and 50 to professionals. Our membership has grown from 12 member families in 1998 (some families have more than one affected individual) to just over 80 at present. Our aims & objectives are: - INFORMATION - to provide ongoing information via our web-site AWARENESS - raise awareness of LQTS with professional workers and other interested individuals SUPPORT - to be in contact with and offer support to other families LINK - whenever possible to link families in similar situations and areas Current projects include the continued development of our Website that will provide as much information as possible on the condition and its management. We aim to add information for schools and other health professionals such as Health Visitors, GP's etc. We have joined forces with SADS UK and other arrhythmia groups to aid the funding of research into the condition and to raise awareness. Our achievements to date include raising over £13K through fund-raising events. This has enabled us to cover all overheads for the group, set up the web-site and jointly sponsor a research scholar for one year at Cambridge University. 12.45 - 13.35 Lunch - Osler Room Presentation 5 - Katherine Timothy Clinical Co-ordinator for Cardiac Arrhythmia Genetic Research Importance of Constructing a Family Pedigree E;Mail: Katherine.timothy@genetics.utah.edu
  9. 9. "Identification of Family Roots is essential to Genetic Research-how to begin a family pedigree" Review of Family 1532 pedigree: story of triplets and family relationships of other sudden deaths in extended family members. How to start a family health pedigree-use of the Family Group Sheet. Case of Andersen's syndrome-how unrelated symptoms helped in discovering a new syndrome and gene. Presentation 6 - Dr Tom Harris - Founding Director of Cardionetics Ltd Detection and Management of Arrhythmias in Primary Care E-mail: Cardionetics - Colin Robertson - crobertson@cardionetics.com Dr Harris' talk addresses the process by which arrhythmia patients are currently investigated and provides an overview of the current technology and its use, drawing attention to the technology gap between the GP and the hospital cardiology department. Previous studies have shown that of the patients referred for cardiology work-up by GPs, 60% do not receive a positive diagnosis. The detection of arrhythmia at the primary care level is restricted by the conventional equipment and it is only with the introduction of automated ambulatory ECG technology that the situation can at last be redressed. Tools such as the C.Net2000+ allow GPs to carry out long term tests, and on the back of solid evidence make more informed referral and treatment decisions. A 12 months multi-site study involving over 250 patients has shown that GP referrals can be reduced by 60% by using such technology. In addition the detection of urgent cases at the primary care level is shown to be doubled. In addition to diagnosis and management, such equipment can be used in a screening mode to detect arrhythmia in at-risk groups that the costs of hospital tests would simply prohibit. Presentation 7 - Dr Mary Sheppard BSc.M.D.MRCPath Senior Lecturer/ Honorary Consultant in Histopathology, Royal Brompton Hospital Defining and Recording Sudden Deaths from Genetic Arrhythmias E-mail: m.sheppard@rbh.nthames.nhs.uk Dr Sheppard's talk emphasises the pathology of sudden cardiac death in the young and the clarification of the causes of sudden death. It is essential to carry out pathological and autopsy examination of each individual case. Sudden death needs clarification as to its cause and true incidence in the population. Autopsy studies and retention of cardiac tissue is essential in investigating these cases. The precise incidence of sudden cardiac death can be difficult to determine because of the heterogeneity of definitions, but is known to be a function of the prevalence of coronary heart disease in a given community. It is estimated that 2/1000 population die from sudden cardiac death.
  10. 10. However in the young, coronary artery disease is rare. Other diseases of the heart are more important in the young, including anomalous coronary arteries, hypertrophic cardiomyopathy, arrhythmogenic right ventricular dysplasia, congenital heart disease, left ventricular hypertrophy, myocarditis, mitral valve prolapse, aortic stenosis, dilated cardiomyopathy, sarcoid, tumour, lipomatous hypertrophy of the septum and a group which we label as idiopathic fibrosis (IF) syndrome. An experienced pathologist is needed to investigate these entities and The Royal Brompton Hospital have a specialist referral service to provide the facilities to examine the hearts of all cases of sudden cardiac death in the population. Yet among patients dying suddenly, there is a group in which no obvious cardiac causes of death can be established and these cases are labelled as sudden adult or Arrhythmogenic death, because it is believed that the terminal event is a cardiac arrhythmia. This is very important label for these patients who die suddenly with no preceding disease and in whom with adequate autopsy and toxicological investigation, no cause or explanation of the death is established. The pathologist has a key role in these situations to eliminate established cardiac causes of death. It has now been found that a percentage of these patients with macroscopically normal hearts suffer from genetic diseases called channelopathies. By studying these cases we will come to a better understanding of the causes of sudden death in the young and help to prevent them and provide counselling for families. 15.40 - 15.55 Coffee Break - Dorchester Library BREAK INTO WORKSHOPS - SEE SEPARATE SATURDAY WORKSHOP SCHEDULE TO SEE WORKSHOP ROOM THAT YOU ARE ASSIGNED TO TODAY. Family Pedigree Construction - Katherine Timothy & Pam Husband Katherine Timothy has 17 years experience as clinical co-ordinator for Cardiac Arrhythmia Genetic Research. She has been instrumental in helping geneticists identify 5 genes known to cause Long QT Syndrome and has visited hundreds of families from around the world regarding Long QT and other cardiac arrhythmias associated with sudden death in the young. Katherine was involved in co-founding the SADS Foundation in the USA. Pam Husband founded The Canadian SADS Foundation after the sudden death of her son Greg at the age of 16. Her daughter was subsequently diagnosed with the Long QT Syndrome and is being treated for this. The Toronto Star ran Greg's story and within days over 250 calls were logged. As a result several Canadian families with a history of sudden cardiac death made contact with each other. Several other families obtained a diagnosis for their symptoms and almost certainly the experience of sudden death in many of these families was prevented. Katherine and Pam aim to help people understand how to set up a Family Pedigree Construction. Genetics, Heart Disease and Arrhythmias - Dr Andrew Grace & Suzanne Brittin Dr Andrew Grace is a consultant cardiologist at Papworth Hospital and a Senior Research Fellow, Department of Biochemistry, University of Cambridge. The research undertaken by Dr Grace and his team is aimed at making substantial improvements in the management of the members of high-risk families. Suzanne Brittin started the Long QT Support Group after struggling to find information about the Long QT Syndrome. Dr Grace and Suzanne Brittin are facilitating the workshop to discuss these conditions and their impact on families.
  11. 11. Bereavement Support - Lin Baldwin and Anne Jolly Lin and Anne became good friends after the death of their sons Tom and Ashley. They met several years ago in London; both were struggling to make sense of the awful tragedy that had hit them, trying to come to terms with their new reality and the grief that brought. Lin wrote a book of poems 'Calling Owls' as a tribute to her son Tom, Anne set up the Ashley Jolly SADS Trust, SADS UK. Both realise there is no prescription for grief and each individual will find their own way to cope. They have gained a sense of hope through sharing thoughts, feelings and experiences and can only hope other attendees will find the workshop a positive experience. Open Forum/Discussion - Dick Stafford and Nancy Busse Dick Stafford has served as a leader in Christian education for over 30 years. Since 1996 he has served as Associate Pastor at North Phoenix Baptist Church. He directs Pastoral ministry, strategic community relationships and church's local and global missions focus. He has a Master of Divinity, B.L. and has carried out additional graduate study at New Orleans Baptist Theological Seminary. He has published numerous articles in professional publications and was co-author of 'Single Parenting with Dick and Jane', published in 1993. Dick is a genetic carrier of the Long QT Syndrome. Sadly his son Andrew died in 1991 due to previously undiagnosed Long QT Syndrome. His other children Katy and Doug have Long QT and are treated with medication and pacemakers. - E-mail dick.stafford@npbc.org Nancy Busse. Nancy contacted The Canadian SADS Foundation after her otherwise healthy daughter Susan died suddenly while on a family vacation. Subsequently the Alberta Chapter was formed in western Canada in 1999. She currently serves on The Canadian Board and is President of the Alberta Chapter of The Canadian SADS Foundation. Her focus is on awareness and education. Nancy answers the toll free information 'phone and delivers information to families as they request it. In April 2001 The Alberta Chapter of the Canadian SADS Foundation hosted and co-ordinated a medical/educational conference in Calgary. - E-mail: nancy.busse@sads.ca Conference Finishes at 17.35 directly after workshops - Royal College Bar opens in Osler Room at 19.30 - attendees may purchase drinks during the evening Saturday Evening - Buffet 20.00hrs - Osler Room GUEST SPEAKER Synopses of Presentations and Workshops SUNDAY 13 TH OCTOBER Welcome - Alice Lara, Executive Director of the SADS Foundation - E-mail: alice@sads.org Presentation 1 - Andrea Jones - Inspirational story of her life and how she has learnt to live life to the full with the Long QT Syndrome Living with the Long QT Syndrome
  12. 12. Andrea Jones is 19 years old and believes in living life to the fullest. After many episodes of cardiac arrest and a pacemaker implant at the ripe age of eleven, Andrea speaks about living life to the full and more importantly to spread awareness of Long QT Syndrome. Andrea almost drowned when she was ten years old. She continued to pass out for eighteen months, which included three near death experiences. Doctors told her that she was fine. She was sent to two neurologists and a psychiatrist to see if she was passing out for attention. Eventually the answer to her 'faints' appeared in an article in The Toronto Star Newspaper. A woman named Pam Husband had lost her son to something called Long QT Syndrome and she went public with her story. Andrea was then taken to the Hospital for Sick Children in Toronto where an incredible cardiologist by the name of Dr. Robert Hamilton confirmed her diagnoses of Long QT Syndrome and implanted a Medtronic pacemaker. She has been going strong for seven years now. Andrea's doctor told her that in theory she should not be alive. She is now going public with her story to save lives and to get the message across to live life to the full. Presentation 2 - Professor Michael Vincent - Founder of the SADS Foundation USA The Long QT Syndrome E-mail: The SADS Foundation USA - LDGVINCE@aol.com Professor Michael Vincent speaks about the Long QT Syndrome. Professor Vincent is Professor of Medicine, University of Utah School of Medicine; Chairman, Department of Medicine LDS Hospital; Associate Chairman, University of Utah School of Medicine, Salt Lake City, Utah, USA. Professor Vincent founded the SADS Foundation in 1992 and has been the Board President since that time. Please see Long QT Syndrome, G Michael Vincent M.D. in your conference pack. 10.30 - 11.30 Coffee Break - Dorchester Library Presentation 3 - Jon Mettler - Editor of Berner Zeitung, Switzerland's third biggest newspaper Evaluating and Providing Medical Information on The Internet E-mail: info@qtsyndrome.ch A patient's thirst for information is huge, especially when she or he is confronted to a so called 'rare disease'. Until now, too often patients had to accept the diagnosis, the treatment and were left with their questions unanswered. With the growing popularity of the Internet, this is changing. The Internet is the first medium to provide patients with the knowledge they need to understand more about their condition. But the Internet is also a medium in which anyone with a computer can serve simultaneously as author, editor and publisher. With a number of health sites increasing, how can one be sure that the online health information provided is reliable? The presentation will try to give some basic rules on how to evaluate and provide medical information on the Internet. Please see 10 Criteria to Evaluate Medical Information on the Internet in your conference pack. Presentation 3 - Pam Husband, The Canadian SADS Foundation and Dick Stafford who has been involved in raising awareness and has worked to support SADS families since 1992 The Importance of Awareness
  13. 13. Pam Husband founded The Canadian SADS Foundation after the sudden death of her son Greg at the age of 16. Her daughter was subsequently diagnosed with the Long QT Syndrome and is being treated for this. The Toronto Star ran Greg's story and within days over 250 calls were logged. As a result several Canadian families with a history of sudden cardiac death made contact with each other. Several other families obtained a diagnosis for their symptoms and almost certainly the experience of sudden death in many of these families was prevented. 12.00 - 12.50 Lunch - Osler Room Presentation 2 - Professor William McKenna - Professor of Molecular Cardiovascular Sciences Hypertrophic Cardiomyopathy Professor William McKenna speaks about Hypertrophic Cardiomyopathy. Professor McKenna is BHF Professor of Molecular Cardiovascular Sciences, St George's Hospital Medical School, University of London. Professor McKenna has a longstanding interest in inherited cardiovascular disease, and particularly in those conditions which cause sudden death in the young. Presentation Stephanie Cruickshank - Cardiac Nurse at St George's Hospital, Tooting, London The Cardiomyopathy Association E-mail: cmaassoc@aol.com Cardiomyopathies are defined as diseases of the myocardium associated with cardiac dysfunction, and are classified as dilated cardiomyopathy, hypertrophic cardiomyopathy, arrhythmogenic right ventricular cardiomyopathy and restrictive cardiomyopathy. The Cardiomyopathy Association is a national heart charity established 12 years ago, to raise awareness of the condition and to offer information and support to sufferers and their families. We campaign for action on treatment to include mandatory screening of first-degree relatives of cardiomyopathy sufferers. Over the years we have expanded our services and now provide up to date information, available in booklet form, on video, and on the web, we have recently launched a CD-rom which provides information for both health professionals and families on all aspects of cardiomyopathy. Stephanie Cruickshank is a Cardiac Nurse-she is a Cardiomyopathy Nurse Specialist working alongside Professor William McKenna at St Georges Hospital in London. She offers support to The Cardiomyopathy Association members and families, and is involved in co-ordinating our regional support groups and educational seminars. Stephanie was diagnosed with Hypertrophic Cardiomyopathy 12 years ago following an out of hospital cardiac arrest, since then she has had an implantable cardiovertor defibrillator and a pacemaker fitted. Stephanie will talk about the Cardiomyopathy Association and her role within it and will give a short viewpoint of life after "failed sudden death" and living with an ICD. Presentation 6 - Dr Cathy Head - MRC Clinical Training Fellow, University of Cambridge Research into LQT With advances in both the knowledge of the genetics of congenital LQTS and techniques of gene-targeting in mice, several mouse models of LQTS have been produced. Currently the mouse is the only species in which gene-targeting is possible: this will be explained
  14. 14. and a brief description of how a gene-targeted mouse is produced will be given. The similarities and differences between the mouse and human heart will be discussed with reference to possible medical uses for this research. 14.30 - 14.45 - Coffee Break - Dorchester Library BREAK INTO WORKSHOPS - SEE SEPARATE SUNDAY WORKSHOP SCHEDULE TO SEE WORKSHOP ROOM THAT YOU ARE ASSIGNED TO TODAY. The Importance of Awareness - Pam Husband & Dick Stafford Pam Husband is the founder of The Canadian SADS Foundation. She founded the organisation after the sudden death of her son Greg. Her daughter was subsequently diagnosed with Long QT Syndrome and treated. Dick's son Andrew also died at the age of 16. Subsequently he discovered he was a genetic carrier of the disease and his other children Katy and Doug are being treated for the Long QT Syndrome. The Long QT Syndrome Professor Michael Vincent from the SADS Foundation, United States of America, has been studying and treating patients with the genetic Long QT Syndrome since the mid 1970's. Professor Vincent will be concerned with trying to help attendees understand more about the Long QT Syndrome. Cardiomyopathy and the Cardiomyopathy Association Professor McKenna and Stephanie Cruickshank will be facilitating the workshop. Professor McKenna will be concerned with trying to help attendees understand more about the medical aspects of the condition. Stephanie is a Cardiac Nurse with personal experience of Hypertrophic Cardiomyopathy and will be able to provide information about The Cardiomyopathy Association and their support role. 16.45 - Return to Wolfson Theatre - Professor Michael Vincent Summarises 17.00 - Close of Conference Return to Conference 2002 EXHIBITORS - The Dorchester Library Reynolds Medical - E-mail: sales@reynolds.ferrarisgroup.com Reynolds Medical has been involved in arrhythmia monitoring for 36 years. Based in Hertfordshire, Reynolds Medical design, manufacture and support industry leading 24 hour ambulatory ECG and blood pressure monitors. Ongoing developments include 7-day continuous ECG recording, prolonged QT analysis and Stress Testing Systems with risk establishing Microvolt T-Wave Alternans. Cardiac Risk in the Young - CRY - E-mail: cry@c-r-y.org.uk Cardiac Risk in the Young - CRY - was founded in 1995 by Alison Cox. CRY fund the CRY Centre of Sports Cardiology based at the British Olympic Medical Centre and the echocardiogram machine at St George's Hospital, Tooting, London. They donate medical equipment, run mobile screening programmes and support families following cardiac death. The Cardiomyopathy Association - E-mail: cmaassoc@aol.com
  15. 15. The Cardiomyopathy Association is a registered charity which exists to help sufferers and medical professionals find ways to deal with a condition which, when identified can be monitored and, if required, treated with medication. The Association works to raise awareness of the single largest cause in the United Kingdom of sudden death in those under the age of thirty. The WAY Foundation - E-mail: info@wayfoundation.org.uk The Widowed and Young Foundation provides support to young people who have been bereaved through the loss of their husband, wife or partner. Amongst other activities they arrange get-togethers and days out for local members to meet each other. They have 60 WAY Area Contacts around the UK. Easy Heart Tracer - Robert Farwell - E-mail: merlyn@easyhearttracer.com Easy Heart Tracer , EHT for short has small but sophisticated electronics that attach to any USB port. PC running windows 98 and above. Non-evasive real time monitoring or electricity generated by the muscles of the body. When a body is not moving the Heart is the biggest muscle. Index fingers are the only pick up connections.