THE DYSAUTONOMIA FOUNDATION:

WHAT WE DO
(Distributed at Dysautonomia Day 2001)

The discovery of the gene mutation responsible for Familial Dysautonomia is the outcome of a half-century of efforts for which the Dysautonomia Foundation has been the catalyst. Soon after the identification of FD, the Foundation was established in 1951 by a handful of parents committed to awakening public interest and directing the attention of the medical and scientific community to this baffling disorder. Fundraising activities were initiated to support treatment and research, which led to important advances:

This, of course, has led to universal FD carrier testing.

Although the gene was not officially recognized until 2001, the costly and painstaking research done by Dr. Gusella and his dedicated scientists, created a situation whereby 70 healthy babies have been born to parents who had already given birth to an FD child. The Dysautonomia Foundation’s activities were responsible for that accomplishment. Along the way, research funding from the Foundation supported work at a host of leading institutions, including:

Parallel with the research efforts, the Foundation has been the prime backer of clinical care for the disease. This began with the establishment of the Dysautonomia Treatment and Evaluation Center at NYU Medical Center under Felicia Axelrod, and has continued as the Foundation continues to be its sole funding agency since 1970.

Through the efforts of those involved with the Foundation, all patients can see Dr. Axelrod for an annual examination at no cost above the insurance coverage. She is available for consultation in emergency situations via phone, at no charge to her patients. This is irrespective of the patient’s ability to pay or level of support of the Foundation.

One of our most significant accomplishments has been the establishment of a chair in the pediatrics department at the NYU Medical School. What this $1 million investment guarantees is that NYU will provide care for FD patients in perpetuity. Dr. Axelrod is the first person to be honored with the chair. And, this is the only such endowed professorship in pediatrics at NYU. When you support the Dysautonomia Foundation, you are directly supporting Dr. Axelrod and the FD Treatment and Evaluation Center.

To facilitate the early diagnosis of the disease, the Foundation sponsored mailings to all pediatricians in North America describing key symptoms and available diagnostic tests. This was all supported by publicity efforts to inform the general public.

It seems incredible to many of us that the Foundation is 50 years old and that today marks the 15th Anniversary of the Foundation’s sponsorship of International Dysautonomia Day. This is the day in which families, researchers, health care providers and friends meet and learn the latest developments in treatment, research and social issues affecting FD.

Dr. Axelrod gives an update on breakthroughs in clinical treatment and trends based on research and statistical data compiled from patient profiles. This report is also mailed to the parents or patients. International Dysautonomia Day was developed to assure that all families would have opportunities to hear progress reports directly from physicians, scientists and/or other health care providers as well as to talk directly to these dedicated individuals. Hundreds of patients and parents have met at NYU to take advantage of this event. We hope that attendance will continue to grow.

All of these endeavors required substantial fundraising. Since our organization was founded we have raised and spent over $10 million to directly support FD treatment centers, scientific, clinical and genetic research. These funds were raised through auctions, movie premeires, luncheons, dinner dances, boutiques run by parents, car raffles, golf outings, mailings, journals, bequests. And, this happened because of extraordinary efforts by individuals, as the Foundation has never received large amounts of government or corporate funding.

Throughout our history we have worked closely with Dysautonomia Foundation chapters throughout the world on fundraising and programs for our kids. Our chapters are widespread and include the:

The Foundation’s executive director and assistant executive director are available and accessible to all. They are our liaisons for all partners the fight against FD. The receive and respond to thousands of phone calls from all over the world regarding all FD issues. They are integral to every fundraiser including their own unsurpassed FD Journal.

The Foundation supports broad carrier screening initiatives. In April, 2001 we funded a month-long international free FD genetic screening program at NYU/Mt. Sinai Medical Centers. Blood samples were sent in or drawn on site for almost two hundred relatives of known FD carriers. We also assist other testing centers, (as for example, Canada), to assure that FD carrier testing becomes part of the genetic testing kit of all gynecologists and obstetricians.

Also, this last fiscal year we funded a Social Services Coordinator at the FD Center in NY who is available to provide and research social and related services that FD patients uniquely need. This person has a wealth of information on everything from wheelchairs to college applications. It is important that our families know the status of these initiatives.

Current Foundation projects are numerous. They include, but are not limited to:

We are very fortunate to have a prestigious public relations firm that has graciously offered to provide us with pro bono services. The PR firm is actively involved in helping us develop and implement a strategy for informing relevant audiences of the discovery of the FD gene, genetic screening and the Foundation’s Request for Applications. With their assistance we have been able to issue international press releases, such as our commitment to provide up to $1 million annually in new research grants.

Our Scientific/Medical Advisory Board receives grant applications from any and all sources. After a thorough review by our board and advisors, we consider any research or program that can benefit our community. For example, we have had discussions with scientists at Harvard/Massachusetts General Hospital, NYU-Mt. Sinai Medical Centers, Fordham University and the National Institute of Health about future research.

As you will learn today, our most recent and most important achievement was a June, 2001 brainstorming session of scientists from around the world focused of FD research. The goal, of course: better treatments and a cure. Scientists from NIH to Germany to NY came here to explore the empirical ramifications of the gene discovery. Our Foundation office coordinated this program. The scientist/physicians met with each other and with families and with our Board liaison to draft the first annual $1 million Request for Applications which will be completed and published in relevant scientific journals. We intend to have this RFA attract the best and brightest to our cause.

In the very critical role we play in notifying the Jewish community at large about FD and FD screening, we have established an important relationship with the Union of American Hebrew Congregations. The UAHC is the umbrella agency for North American Reform synagogues. The UAHC has agreed to publish numerous articles on FD in their 2001 Genetics Study Guide which will be distributed to 930 congregations serving 1.5 million Jews.

We have also met with a senior representative of the Union of Orthodox Jewish congregations, the umbrella agency for the North American Orthodox community. The position of the OU is that the Orthodox community has very specific needs with respect to genetic testing, and the individual we met articulated those for us. If we are able to structure a testing program – or participate in one – that meets those needs, the OU will strongly consider disseminating the message.

Representatives of the Foundation met with the Director of Marketing for the Jewish Community Center Association, the umbrella organization of more than 275 centers and camps serving more than 1 million members in North America. The JCCA agreed to send a mailing about FD to its member centers along with a cover note from the JCCA.

The national Hillel office which oversees Jewish centers on college campuses, has offered to include information on FD and FD screening in its weekly newsletter to its centers, include a link on its web site to the Foundation’s and/or to provide labels for a mailing.

The news about the gene discovery was reported in New York, Chicago, LA and Israel. There were many articles on FD published this year with the help of so many people worldwide. We were involved in a number of interviews for articles and news programs. Coverage of FD included, but was not limited to:

The Foundation is determined to increase the number of physicians who are researching, treating and are knowledgeable about FD. Given that goal, we are hoping to expand the FD Treatment and Evaluation Center at NYU-Mt. Sinai Medical Centers. Further, we have been involved in mailings to and seminars for pediatricians and other physicians our population is served by.

In addition, we recently contacted the March of Dimes, which is dedicated to the health of babies by preventing birth defects and mortality. The representative of MO expressed knowledge of, and an interest in preventing and identifying Familial Dysautonomia in children. They have tremendous contacts within the medical community and the public.

The Foundation plans a mass direct and ongoing mailing about FD and FD screening to worldwide Jewish organizations and agencies who have the mutual goals of preventing Jewish genetic disorders.

Politically, the Foundation like so many of our families is actively lobbying for statewide legislation to support identification of FD as a developmental disability. This could result in publicly funded, lifelong financial, medical, housing, vocational, therapeutic services and supplies to persons with FD.

Also, on the subject of adult daily living issues, to be distributed on FD Day is information about proposals for quality-of-life initiatives aimed at improving, recognizing and rewarding the independence and achievements of our adult population.

Also, beginning this year we will use or proprietary website – www.familialdysautonomia.org – as our regular channel of communication. Visit the site frequently for the latest news on our efforts. This improved communication is in response to what we have heard on the FD-Net and elsewhere. We strongly desire to meet the need for information as expressed by the community. In addition, the Dysautonomia Treatment and Evaluation Center maintains a separate website – www.med.nyu.edu/fd/fdcenter.html containing valuable information.

Recently, our NY-based board has taken greater advantage of communications technology and teleconferenced in directors from around the world. Since the gene discovery, more directors from other cities are attending meetings or calling in to participate on the board. They are integral to our achieving these numerous goals and objectives.

All of these programs are extraordinarily expensive. This year’s fundraising events include our FD Journal, the Philadelphia Luncheon and the Meadow Brook Gold Tournament. As our population grows smaller we need everyone pitching in because our expenses have become astronomical. Our families have made it possible for other families to avoid this catastrophic disease. This, unfortunately, makes other Jewish families less concerned about our cause than ever before.

We know that each of you has contributed to improving the lives of children and adults affected by this horrific disease. Whether your work is at home or in the hospital at 2:00AM, lobbying for state mandated infant FD testing, getting your story in local papers, revamping school programs, educating physicians, fundraising, supporting each other on the FD-Net, getting your children or yourself through another day – we salute you for your heroic efforts. As you know, that is what it takes to live in health and dignity with FD.

Thank you for your continued support and for all you do to make the lives of those with FD the best that they can be.

If our 50th anniversary present is the discovery of the gene, then let’s make the next shared and greatest gift of all – a cure.

We will remain what we have always been – an organization dedicated to making the lives of those afflicted with FD as enjoyable and as rewarding as possible. This disease will be eradicated in our lifetime. Together, we will see to it.