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the
dysautonomia foundation: what we do 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: •
The diagnosis of children with FD by their lack of taste buds; •
The discovery of a histamine test to determine at birth if a child
is afflicted with the disease; •
The discovery of genetic markers in the 1990’s by Dr. James
Gusella’s Neurogenetic Laboratory at Massachusetts General
Hospital/Harvard University; •
The development of a prenatal test for FD in families with affected
children; •
And, now the discovery of the gene itself! 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: •
The New York University Medical Center •
The Mount Sinai School of Medicine •
Johns Hopkins University •
Bar Ilan University •
The Hebrew University •
The Hadassah Medical Center •
McMaster University •
The University of Toronto •
The University of Chicago •
The University of California Los Angeles •
Harvard University/Massachusetts General Hospital 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
Dr. 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 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 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 and scientific, clinical and genetic
research. These funds were raised through auctions, movie premieres,
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: •
Boston Chapter •
Chicago Chapter •
Dysautonomia Society of Great Britain •
Bernie Hattenbach Chapter (CT) •
Israel Chapter •
Long Island Chapter •
Michigan Chapter •
Montreal chapter •
Southern California Chapter •
South Florida Chapter •
Toronto Chapter •
Helen Volein Chapter (NJ) •
Worcester Chapter (MA) •
Maryland Chapter The
Foundation’s executive director and assistant executive director are
available and accessible to all. They are our liaisons for all partners in
the fight against FD. They 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: •
Our number one priority: finding new therapies •
Aggressively notifying the at-risk Jewish community of FD and FD
screening; •
Adding another physician/clinical research team to the NYU-Mt.
Sinai FD Treatment and Evaluation Center; •
Notifying physicians about FD and FD screening; •
Lobbying for legislation to improve public benefits for persons
with FD; •
Identifying quality-of-life issues for the growing population of FD
adults; •
Improving our communication within the FD community. 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 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 on 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 scientists/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
published 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 Jewish Week •
Newsday •
LA Times •
New York Post •
Science News •
Bioworld Today •
Eyewitness News, NY •
The Jewish Telegraphic Agency The
Foundation is determined to increase the number of physicians who are
researching, treating and knowledgeable about FD. Given that goal, we hope
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. Their
representative 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 our 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 with directors 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 Golf 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 then 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 2:00 a.m., 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 is what is takes to live in
health and dignity with FD. Thank
you for your continuing 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. NOTE:
On August 17th, the first RFA ads appeared in the Science and Nature
journals. We are now on our way to begin research into the IKAP gene and
its function! |