English About Familial Dysautonomia About the Israeli Familial Dysautonomia Organization The Israeli Familial Dysautonomia Scientific Council How can You help ?  About Familial Dysautonomia Also known as Riley-Day Syndrome (After the two pediatricians that described the disorder in .(1949Although the public and many medical professionals are unaware of Familial Dysautonomia, a striking 1 in 30 Ashkenazi Jews are carriers of the mutation, a prevalence similar to the more well known disorders of Tay-Sach's disease or Cystic Fibrosis. Familial Dysautonomia (FD) is an autosomal recessive genetic disorder that affects the autonomic and sensory nervous systems. FD is seen in males and female equally, among Ashkenazi (Eastern European) Jews. Increased awareness and research in Familial Dysautonomia will help facilitate diagnosis, help develop more treatment for those already affected and ensure genetic counseling to couples seeking preconception advice. An insight into FD will also provide help for related sensory and autonomic nervous systems disorders and other medical issues commonly seen. The medical and scientific community will develop a better understanding of how the body regulates functions such as blood pressure (both hypertension and orthostatic hypotension are seen in FD),pain, body temperature, corneal wound healing, swallowing, reflux and gastrointestinal motility and nervous system cell death (apoptosis). Some common features of FD include: decreased ability to feel pain or temperature sensations inappropriate blood pressure and body temperature fluctuations trouble with feeding, swallowing and gastrointestinal motility decreased body tone - hypotonia developmental delays recurrent pneumonias (from aspiration) skeletal deformities - scoliosis and kyphosis increased sweating transient skin blotching decreased stature lack of overflow tears while crying Presently, there is no cure for this progressive disorder and treatment is aimed at controlling symptoms and avoiding complications. However, once someone is diagnosed with FD, genetic testing is available to their family and relatives. The gene responsible for FD has been discovered on January 2001. Genetic screening for FD is now available at almost every genetic unit/institution at Israel's public hospitals, HMO's and private laboratories. Survival has increased with treatment, and will hopefully continue towards a cure, as more and varied research is done by the research and medical community Summary Of Familial Dysautonomia Symptoms Familial Dysautonomia affects the autonomic nervous system, the part of the nervous system that controls the “auto-pilot” functions of breathing, swallowing, heart rate changes, blood pressure, and temperature regulation. In other words, the part of the nervous system that manages all the essential functions so that you don’t have to think about doing them. It also affects the sensory nervous system, the part of the nervous system that you use to feel pain and temperature. In addition to the main symptoms that make the criteria for the diagnosis, there are many other symptoms that have been seen with Familial Dysautonomia. Most of these are complications of the effect on the nervous system. The following is a list of possible symptoms; no patient will have all of these symptoms and many will experience only a few at a given time: 'Eyes: lack of overflow tears (dry eyes), corneal wounds (with poor healing), optic atrophy, 'Mouth: lack of fungiform papilla on the tongue, small jaw size with overcrowding of teeth, early tooth loss 'Gastrointestinal: uncoordinated suck and swallow, episodes of cyclic vomiting, reflux (heartburn), achalasia, motility problems (constipation, dumping syndrome) 'Heart: episodes of erratic fast heart rate and high blood pressure, low bloo pressure(hypotension), 'Lungs: recurrent pneumonias due to aspiration, inability to tolerate lower oxygen levels 'Kidney: dehydration, poor kidney blood flow, salt wasting, renal insufficiency or failure 'Nervous system: autonomic dysfunction, decreased ability to feel pain or temperature, hypotonia, decreased deep tendon reflexes, ataxia and apraxia 'Dysautonomic crisis': episodes of erratic blood pressure, heart rate, cyclical vomiting, seizures temperature instability, excessive sweating and salivation, anorexia, and apparent discomfort (due to breath-holding, febrile, and seizure disorders), dizziness, passing out. 'Orthopedics: Scoliosis, kyphosis, neuropathic joints, inability to feel fractures 'Skin: poor wound healing, blotching with eating, excitement, or sleeping, excessive sweating 'Psychiatric: poor attention span, anxiety, depression, auditory processing problems, self-mutilation, separation anxiety 'Development: delayed puberty, delayed gross motor & speech development, mostly normal intelligence. The English version was adopted in appreciation from "FD Hope" web site. Back to top >  The Israeli Familial Dysautonomia Organization The Israeli Familial Dysautonomia Organization was founded in 1983 by parents of children born with FD. Currently, there are approximately 85 member families, although support and assistance are readily provided to the entire FD community in Israel, i.e. all those with FD and their families (approximately 120 FD patients of about 100 families). The relative residence proximity of families in Israel enables our community to develop close relationship and a perception of belonging to "one big family" the "FD Family". There are nine board members of whom the majority are parent volunteers, and one adult FD patient. To date the organization has no employed management staff or registered offices. Israeli FD Board of directors 2004 Dr. Einat Makler-Shiran, M.D. - chairperson A board member since 1995, chairperson since 1999. Member of the FD Scientific Council since 2002. Mother of four, the eldest - 19 years old with FD. A Gynecologist working at 2 private clinics. e-mail: shiran6@netvision.net.il Zvi Bogen - treasurer A board member since 2002 . Father of two, of which a 10 years old son with FD. Works in the Israeli Defence Forces. e-mail: zvikab@elco-ind.co.il Dr. Chanan Goldman, M.D. A board member during 1984-1995 and since 1999. Member of the FD Scientific Council since 2002. Father of five, the second son - 19 years old, with FD. A Psychiatrist working on his private clinic. e-mail: hanang@walla.co.il Shir Goldman An adult FD board member since 2004. Representative of the adult FD population. e-mail: goldmanshir@walla.co.il Dana Tal-Tish - treasurer A board member since 1999. Mother of two daughters, the eldest 5 years old with FD. First degree in social economics, now working as a teacher. e-mail: mayatal1@bezeqint.net Moshe Linevitz A board member since 1999. Member of the FD Scientific Council since 2002. Father of three, the eldest 13 years old with FD. Second degree in Chemistry. Working as a pharmacist in his private firm. e-mail : moshe_linevitz@walla.co.il Simcha Samson A board member since 1995. Father to a 13 years old son with FD. Works and lives at Kibbutz Cabri e-mail: simsa@cabri.org.il Uri Gelband A board member since 2002 . Father to three, of which a 12 years old son with FD. Director of a security firm. e-mail: urigel@netvision.net.il Raanan Dror A board member since 2002 . Father to three, of which an 11 years old son with FD. Works as an agriculturist at Kibbutz Lavi. e-mail: adama@lavi.co.il Socail Worker: Mery Fasja Israeli FD social worker since 2000. e-mail: meryff@yahoo.com Counsellor: Dalia Or Israeli FD counsellor since 1999 e-mail: ordalia@netvision.net.il The complex daily care regime of an FD child, combined with the frequent need for hospitalization, places a heavy emotional, physical and financial burden on affected families. The constant demand on parents' time limits their ability to take on active public roles. Consequently, the activities of the organization were relatively modest until a few years ago, when the National Health Law was introduced and greatly increased the financial burden on the FD families. The board of the organization is now fully committed to protect the interests of FD patients on a public and private level, and seeks ultimately to fulfill the aims of the organization, which are: Support, advice and assistance to FD families These are provided in the following ways: Embracing new families (newly diagnosed babies and children, as well as new immigrant patients). Recently initiated Tutor Families project, where veteran families tutor new families, giving assistance, guidance and support on medical and social issues and representation to public bodies. Our organization has raised funds to enable a Turkish FD girl an operation in Israel and accompanied her family's stay in Israel. Since September 2000 the organization employs a social worker . She pays visits to families at their homes, patients in hospitals, and acts as an intermediary between families and welfare, education and healthcare services, as well as keeping in continuous contact with the treatment center at Hadassah. Fund Raising: To date, the organization's budget is based on a limited number of contributions, annual symbolic membership fees, minimal governmental assistance and unique grants. Major efforts have been made to advance the patients' needs and to raise funds to support the organization's activities. The majority of funds raised from Israeli and over-world Foundations, as well as from the business community, are directed by the donors to assigned projects. Fundraising is done solely on voluntary basis. Four support groups have been meeting monthly for over three years: adult patients, adolescent patients, parents of young FD children, parents of FD affected teenagers and adults. The group meetings are led by a professional staff including the organization's social worker, a psychologist, a counselor and adult FD patients who have been trained to lead such groups. Three additional support groups are planned for next year- for siblings, grandparents and orthodox families. Our Adult Support Group has organized for the first time a special 'Fun Day' and an overnight stay as a group at a Hotel. This was done as part of experiencing independent life as adults. Home-Care physiotherapy treatment. The organization is raising funds to begin a home-based physiotherapy project for all patients. Since PT is rarely available as a routine treatment and is usually not covered by the Health Insurance, our vision is to enable every FD child and adult twice weekly physiotherapy at their home, at a subsidized cost. The project proposal has recently been submitted for funding to several private and government funding sources. Donations received from governmental and private foundations allow our Home - Care PT program to assist 23 FD children and adults. Providing Home-PT to every FD child and adult twice weekly, will cost approximately 400,000$ per year. Physiotherapy guidelines as for today, there are no written physiotherapy treatment guidelines available to assist therapists in treating the unique problems of FD. We have started to conduct a unique primary study in order to establish general treatment guidelines that will assist all physiotherapists treating FD children and adults. Most FD patients were instructed to limit certain therapy as to avoid potential damage to their lungs (due to aspiration), bones etc. Primary results of our study show that most FD patients are capable of almost every PT training and remarkable improvement is seen after a short period of time with young as well as adults. A Support Fund has been established to assist needy families within the organization. An independent committee chaired by an attorney manages the fund, which receives information from the organization's social worker. The fund provides financial assistance to families for the treatment and welfare of any FD affected children. Since the fund was established assistance was given to 30 FD families with a total sum of 16,000$. The fund is partially supported by the Israeli's parliament foundation- 'The Knesset Chairman Support Fund" and by private donations. A service for loaning special medical equipment to FD families was set up with assistance funding from private foundations and the Jewish Agency. This unique equipment is not regularly provided by the HMO's and therefore rented with monthly payment. The 70,000$ worth equipment available includes: 3 pocketsize and 50 regular size pulse oxymeter devices, (for blood oxygen level measurement), 2 regular night feeding pumps, 5 handy-lift feeding pumps (for travel), 50 Blood Pressure measuring devices, 15 special tuned beds and a pulmonary physiotherapy vest. All the equipment is lent for as long as needed free-of-charge to more than 70 families. Providing tutors to FD children to assist with school homework and social skills. Recruitment of National Service Girls (Sherut Leumi) to assist with the education and care of FD children, to serve as tutors and to help them with their school homework. 14 girls have been recruited for daily assistance with 22 children since September 2002. All tutors attend an introductory seminar organized by the program coordinator and attend a monthly group meeting with our social worker. The tutor attends the child at his/her home every day, 40 hours per week. The "Tutors for FD children" project proved extremely successful with assistance with school work, and with teaching social skills and enhancing self esteem. The children have shown remarkable advance with their school grades within a short period. They have acquired new friends and have participated in social events within the classroom and at afternoon hours. We believe that continuing this important project is crucial for their future integration in the community. Though the project's main goal is to assist the individual FD child, it has a great impact and effect on all family members since many educational and behavioral tasks are now been done by and the personal tutor. This leaves the parents an opportunity to spend more time with the healthy brothers and sisters. We are seeking for donations and sponsors to continue this important project. Twice-yearly organized "Fun Days" for FD children and their families. These have been held to date at the Kibbutz Eyal Entertainment Park Limpopo, at the Ramat Gan Safari Park in the summer, at the Kibbutz Givat Brenner Entertainment Park- Bet Hallomoti , at Kibbutz Yagur's Entertainment Park Ba-Lagan, and at Ra'anana Park, including special guided challenging sports for handicapped. About 100 members participate every gathering. Lecture evenings on related medical issues and research, coping strategies and rehabilitation. 45 members have recently participated at a 4 hour workshop conducted by the "Israeli Red Shield of David" ("Red Cross") teaching staff on the topic of "coping with emergency life-saving situations" (emphasis on FD critical situations), including practicing CPR (Cardio-Pulmonary-Resuscitation). Organizing Holiday breaks and weekends for families in the Club Hotel, Tiberius and Club Inn, Eilat. Families can stay at the hotel free of charge for a week or more. This honorable offer has been available since January 2002. The organization works in co-ordination with the Dysautonomia Treatment Center at Hadassah, Mt. Scopus headed by Prof. Maayan. The initiative of our organization has brought the Ministry of Health to be involved in the establishment of an additional multi-disciplinary treatment clinic at Schneider Children's Hospital headed by Dr. Mutzafi. We hope the new center will start operating soon. Advocacy and intensive communication with the Minister of Health and the Health Ministry: Private meetings with the minister have served to raise awareness of our patients' unique problems and to seek for ways to solve them. We have submitted four proposals to the 'National Health Administration of Medicines and Technologies', all of which have been approved: artificial tears, nutritional formulas, blood pressure control medication, gastrostomy device. Interaction with the National Health Insurances (HMO's): Meeting with all the medical directors of the four Health Insurances in order to claim all that FD patients should be entitled to as defined by law, as well as to ensure additional specific benefits for them. Lobbying in the Knesset (Israeli Parliament): Presenting the problems of FD patients to the Social Welfare, Health and Education committees. Social Security Participation in the committee to set criteria for the receipt of handicapped child allowance. Meeting with the Manager for Handicap Affairs. Meeting with the General Manager of the Social Security, to address the problems of FD patients. Approached the Social Security and the Transportation Ministry concerning eligibility of mobility allowance for FD patients. Approach to solve patients' problems with the Social Security on individual basis. Media coverage: Numerous local and nationwide newspaper articles have been written, and various television appearances have taken place over the past four years. Recently a "Get Tested" film-strip was projected on national commercial TV Public Relations: Lectures and Posters in various public and medical forums, lectures at hospitals and clinics nation-wide increasingly since the discovery of the Dysautonomia gene, and the initiation of widespread genetic testing in Israel. An explanatory video film about FD "Andrew's Story", produced and kindly translated into Hebrew captions by FD-Hope, assists us raising awareness of FD and its prevention. 100,000 Information leaflets and brochures about the disorder and details about genetic screening are distributed to all medical centers, private clinics and HMOs. Internet Web Site and Forum: The web site was recently reconstructed and updated. An active discussion forum is available. FD bulletin: 2 editions of a new bulletin have already been published, and distributed to all FD organization members and friends. This was an initiative of the adult support group, and was created together with the parents' support group. An information and up-date activity of our board is sent by mail every 4-6 weeks to all FD families in Israel. Online updates are regularly available on our web-site. FD directory: A booklet and CD "Coping with FD" will soon be published. "Coping with FD" approaches the psychological side of FD on the individual affected and its surroundings as well as ways of coping with different emotional situations. The booklet details the privileges and facilities available for the disabled, and specifically for FD patients. It will contain information on issues such as health, education, tax, welfare, municipal administration, psychological advice, and ways for the individual child or adult with FD, family and friends to cope with it. Medicine Students Educational Project - 2nd year Med. students from Tel-Aviv University join a unique program of which each student "adopts" a family with FD, comes over their house several times a year, learn about FD and sees how the family copes with a serious chronic disorder such as FD. The program has begun on October 2002. The Technion Faculty of Medicine in Haifa is considering joining this project as well next year. Special House Meetings are being held several times a year in order to establish a Friend's Society of the FD Organization, primarily to raise awareness as well as funds. Direct Mailing: Explanatory information leaflets were printed with a request for a monetary contribution to the organization and mailed to several areas in the country. Establishment of a Research Fund: At this stage the fund is very modest. However, when larger sums become available, the fund will be used to support research into treatments for the disorder. Establishment of a Scientific Advisory Board to encourage basic science and clinical research of FD with the aim of finding a cure to the disease. The scientific advisory board includes 12 leading scientists and doctors participating as volunteer board members. Recently a nation-wide study directed by the Advisory Board and headed by Prof. Maayan has started: The Effect of Tocotrienol on Clinical Symptoms and Physiological Parameters of Familial Dysautonomia Patients. Legal advice: The organization assists families and represents FD patients' legal interests. Representation is done voluntarily pro-bono by two attorney firms, when requested. Cooperation: The organization exchanges information with other organizations and works with cooperation with the both FD Organizations in the USA - FD Hope and the Dysautonomia Foundation For more information contact: Dr. Einat Shiran - chairperson Email: fdisrael@netvision.net.il  The Israeli Familial Dysautonomia Scientific Council The Israeli Familial Dysautonomia Scientific Council (FD-SC) was established on December 2002, at the initiative of the Israeli Familial Dysautonomia Organization. The aim of the FD- SC is to promote clinical, behavioral, genetic and basic scientific research in Israel to advance the understanding and treatment of Familial Dysautonomia (FD). The FD-SC will work with any individual researcher or professional organization interested in pursuing this aim. The FD-SC Goals are: To advance scientific and clinical research of FD in Israel and abroad. To distribute updated information concerning FD to members of the scientific and clinical communities in Israel. To direct potential investigators to funding organizations that can support research in projects related to FD in Israel. To assist in the generation and direction of funding opportunities and grants to support research into FD in Israel. To increase the awareness amongst the scientific and medical communities in Israel that research into FD may further the understanding and treatment of other disorders. To establish beneficial relationships with other relevant scientific committees, including overseas. Members of the FD-SC Membership and officer-ship are honorary volunteer positions. Meetings are held once every four months. Prof. Aharon Razin - Scientific Director of the Israeli FD Scientific Council. Professor of Medical Sciences at the Hebrew University Hadassah Medical School in Jerusalem. Biochemist and Molecular Geneticist. Leader in the field of DNA methylation and gene expression. Received Israel's National Award in Biochemistry on May 2004. Dr. Jesse Lachter - M.D., Chairman of the Israeli FD Scientific Council. Senior Gastroenterologist at Rambam and Nahariya Medical Centers and at Community Health Services. Senior Lecturer, Technion Israel Institute of Technology, Faculty of Medicine. Dr. Lachter has had productive work collaborations with the FD Treatment and Evaluation center in New York, with FD Hope, and with the Israeli FD Society. Dr. Lachter recently met with David Brenner, President of the American FD Foundation, to begin coordinating approaches to research. Prof. Channa Maayan - M.D., Coordinator of Clinical Research Programs of the Israeli FD- SC. Founded the Israeli Center of Familial Dysautonomia in 1982, and as its Director has been responsible for the development of the Center ever since. Associate Professor at the Hebrew University of Jerusalem, Hadassah Medical School. Dr. Adrian Gilbert - Ph.D, Secretary of the Israeli FD- SC. Director Pharmaceutical Development Innovative R&D Division Teva Pharmaceutical Industries Ltd. Responsible for the formulation development of Teva's innovative drugs. Was centrally involved in the development of Copaxone, Teva's globally-marketed drug for the treatment of relapsing-remitting multiple sclerosis. Dr. Einat Makler-Shiran - M.D., Chairperson of the Israeli FD Organization. Senior Obstetrician and Gynecologist at Rambam Medical Center and at Community Health Service Clinics. Dr. Aharon Schwartz - Vice President for Strategic Business Planning & New Ventures at Teva Pharmaceutical Industries- a global player in the generic industry based in Israel. Dr. Huda Mussaffi-Georgy - M.D., Senior Pediatric Pulmonologist of CF and Pulmonary units. Director of FD clinic at Schneider's Children Medical Center. Instructor at Sackler Medical School, Tel-Aviv University. Dr. Chanan Goldman - MD, Senior Psychiatrist. FD Organization board member. Prof. Giris Jacob - MD, DSc. Senior in Internal Medicine and Clinical Pharmacology Head of the Recanati Autonomic Dysfunction Center (For the Treatment and the Investigation of autonomic nervous system diseases) Senior Lecturer at the Technion, Israael Institute of Technology, faculty of Medicine. Key foci in Dr. Giris' research include: 1- Autonomic cardiovascular control in health and disease 2- Cerebral blood flow regulation mechanisms 3- The effects of sex-hormone on the regulation of the cardiovascular system. 4- The effects of various drugs on autonomic regulation. Dr. Yair Anikster - M.D., Senior in Pediatrics. Head of the metabolic disease unit at Safra Children Hospital in Tel-Hashomer. Fellowship at the National Human Genome Research Institute at the NHI in clinical genetics, biochemical genetics and molecular genetics. Continued to work at the NIH as a fellow physician-scientist with HHMI grant. Research interest is the molecular basis for inherited metabolic disorders. Among his achievements are finding the HPS-3 gene that causes Hermansky Pudlak syndrome and the OPA-3 gene that causes Costeff syndrome in Iraqi Jews. Dr. Miguel Weil - Ph.D Lecturer at the department of Cell Biology of the Tel Aviv University. Expertise in Development Biology. MSc. Moshe Linevitz - Chemist. Director of a private pharmaceutical firm. FD Organization board member. Our mission is finding relief for FD sufferers by encouraging as much productive research as possible. The FD-SC has started to appeal to several researchers in the fields of basic sciences, genetics and clinical and psychological-behavioral research. The interest shown is very impressive and challenging. Many topics have been briefly touched upon as subjects for further investigation. At FD-SC meetings, we have heard scientific initiatives and offered supportive brainstorming following presentations on the following topics: Launching a prospective clinical trial headed by Prof. Maayan on: "The Effect of Tocotrienol on Clinical Symptoms and Physiological Parameters of FD Patients". Review by Dr. Est of research in molecular genetics. Presentation by Dr. Naftali on Electrogastrography for evaluating FD. Presentation by Dr. Burbea on causes of hyponatremia in FD. Evaluating prospects of CIT complementary/alternative medicine device for induction of tearing, with Dr. Biran. Review of Metabolism study initiated by Dr. Shamir on resting energy expenditures. Visit to Recanati Center neurophysiology laboratory for research and therapy of dysautonomias, of Dr. Jacob Giris. Presentation on osteoporosis and calcitonin gene related peptide by Prof. Maayan. Presentation of chick embryo molecular genetic study as proposed by Dr. Weil. Critical review of currently breaking genetic literature by Prof. Razin. Funding directives and strategies by Dr. Schwartz. The FD SC would congratulate anyone with ideas of how to further the key focus of applying science to help patients with FD. To contact the Israeli FD-SC e-mail: fdisrael@netvision.net.il  How can You help ? The financial resources required to fulfill the goals of the organization are not currently available. We are now in the midst of a major fund raising drive to obtain the necessary financial contributions from both public and private sources. Our annual budget is very modest. Most of the organization’s activities are done voluntarily. To this end, a ‘Friends’ Society’ has recently been established. With such challenges before us, we hope to touch the hearts of many, and to receive the generous response needed to enable these crucially important goals to be realized. We therefore appeal to every individual to support and participate in this ambitious effort, thereby easing the suffering of these children and significantly enriching the quality of their lives. Israeli Tax deductible donations are always gratefully accepted. Please make your check payable to The Israeli Dysautonomia Organization. Send donations to: The Israeli Dysautonomia Organization 38 Soroka St. Haifa 34759 ISRAEL Or to our bank account: Bank "Ha'Poalim" (12) 47 Trumpeldor St., Haifa, Israel (702) Account number 12- 702- 23612 For Tax deductible donations in the USA , please contact P.E.F – the Israel Endowment Fund 317 Madison Av. NY. New-York 10017 Tel 212-599-1260 fax 212-599-5981               e-mail: pefisrael@aol.com Please make your check payable to P.E.F – the Israel Endowment Fund and add a letter directing your contribution to The Israeli Dysautonomia Organization Back to top >