Dysautonomia Foundation Inc - History, Programs and Accomplishments

The Dysautonomia Foundation was started in 1951 by a handful of parents whose infants had presented Drs. Conrad M. Riley and R. L. Day with some of their most puzzling cases. The result in 1949 was the identification and description of the Riley-Day Syndrome - now known as Familial Dysautonomia (FD). A concentrated effort was undertaken to awaken both public interest and that of the medical and scientific community to this strange and baffling disorder that appeared to afflict Jewish children of Eastern European background, and fund raising activities were initiated to promote research into its mysteries.

As a result of research sponsored over the years by the Foundation at leading institutions, many important discoveries have been made. These include the initial breakthrough by Drs. Joseph Dancis and the late Alfred A. Smith in diagnosing dysautonomic children by their lack of taste buds; and the discovery of a histamine skin test to determine at birth if a child is afflicted with the disease. 1970 marked the start of a Pediatric Clinic at NYU's University Hospital as a treatment and evaluation center for dysautonomia patients from all over the world.

In 1990, the Dysautonomia Foundation established a laboratory at Massachusetts General Hospital (Harvard), for the express purpose of identifying the gene for FD. Through the efforts of Dr. James Gusella, Director of the Laboratory of Neurogenetics, and a superb team of researchers led by Susan A. Slaugenhaupt, Ph.D., exciting strides have been made. The approximate location of the gene (between flanking markers) was identified and narrowed so that "families at risk" could have a prenatal test to see whether the fetus was affected with FD or not. To date there have been 75 healthy babies born -- all unaffected with FD as predicted. AND NOW, FINALLY, WITH THE IDENTIFICATION OF THE FD GENE, THERE IS A CARRIER TEST FOR THE ENTIRE JEWISH POPULATION!

The Dysautonomia Foundation Inc. is a non-profit voluntary organization with 14 Chapters located throughout the United States, Canada, Great Britain and Israel. Because the Foundation and its Chapters are vitally concerned with the disease and its ramifications, the scope of our program naturally relates to the FD victims -- present and future. Our program can be divided into the following categories: Medical and Genetic Research, Clinical Care, Diagnostic Information, Parent Information and Information for the general public.

Medical Research: We fund research into familial dysautonomia at New York University Medical Center, Mount Sinai School of Medicine, Massachusetts General Hospital, Harvard Medical School, University of California, San Diego, Clare Hall Laboratories, UK, and Hebrew University Hadassah Medical Center in Israel.

Clinical Care: We constitute the sole funding agency for the DYSAUTONOMIA TREATMENT AND EVALUATION CENTER at New York University Medical Center. The purpose of this Center is to provide constant and consistent care for the afflicted children, and to serve as a reference center for pediatricians and other physicians with dysautonomic patients. The Center also serves as a clearinghouse for clinical information and has over the years been responsible for many of the improvements in day-to-day treatment.

The Israeli Center for Familial Dysautonomia was officially established in l980 to function as a satellite of the Dysautonomia Treatment and Evaluation Center in New York. Its goal is to provide the best possible care and assistance to all Israeli FD patients, and to provide their physicians with the most up-to-date medical information available. This center is located at Hadassah University Hospital, Mount Scopus, and Israel is currently caring for some 100 FD cases.

Parent Information: Information relating to care of the dysautonomia patients is disseminated to all parents known to the Foundation. Much of this information is developed through the Center described above and includes the following:

FD Manual of Comprehensive Care - a 53 page revised treatment manual for parents and physicians (1997) by Felicia B. Axelrod, M.D.

Dysautonomia Research Report - as presented to the parents in June during International FD Day.

Medical Bulletins - for the patients from the Director of the Center relating to flu and other vaccines.

FD Resource Guide - to provide assistance in dealing with various aspects of FD problems and issues.

Diagnostic Information: Since we are constantly endeavoring to facilitate the diagnosis of the disease in children at the earliest possible time, so that they may have the benefit of the treatments that have been developed, we have under- taken periodic mailings to all pediatricians in the United States and Canada describing key symptoms and available diagnostic tests.

General Public Information: Through information campaigns and other methods of publicity, we endeavor to make the general public aware of the disease and its implications. The purpose of these attempts are to possibly aid in the rapid identification of as yet undiagnosed cases, to create an awareness of the disease in the general public, and to raise funds for our efforts in all the above areas.

The Dysautonomia Foundation Inc. realized early on how crucial fund raising was to the support of all these areas of activity, and accepted the challenge as their commitment to all dysautonomic patients.

In 1993 the Foundation completed its five-year commitment to endow a Chair in Pediatrics for Dysautonomia Treatment and Research at New York University Medical Center. This million-dollar campaign effort assures the continued clinical care of afflicted children and provides resources for scientific study and specific treatment of FD patients the world over.

Our budget reflects those medical research grants that we have approved because the underlying research is critical to the search for answers. It also includes the cost of maintaining the Dysautonomia Treatment and Evaluation Center. Each year, as the number of FD patients increases and the cost of the Center grows, our task becomes more and more difficult. And, the list of areas of investigation that would benefit the FD patients if additional funds were available increases accordingly.

Your support is vitally important -- it will help the Foundation continue to provide quality services for ALL our FD patients.

Updated 12/30/02