Dysautonomia Foundation, Inc.

 
Executive Director's Message
Fall 2007

The Dysautonomia Foundation is poised to make unprecedented progress in research and treatment over the next several years. With the expansion of our NYU treatment center, the establishment of a dedicated clinical research facility, and the prospect of using animal models of FD to test and develop new therapies, we are truly taking dramatic steps toward improved quality of life and life expectancy for people with FD.

While many of you may know about my passion for working for the FD community from my 18 years of volunteer work, you may not know about my decision to step down as president and become the foundation’s executive director. The prospect of working full time on the challenges and opportunities that face the FD community is both daunting and exciting, and I consider it a privilege and an honor.

Our foundation has grown from a small “mom and pop” organization into a vital public charity that has led the way in every major advance in the care and understanding of FD. We have established the world’s only FD treatment facilities, endowed professorships in the study of FD, played a pivotal role in the discovery of the FD gene and carrier testing, and have been the single largest funding source for FD research in the world.

2007 marks a particularly momentous time in FD history: the Foundation has committed to our most ambitious projects ever and we are on the brink of seeing many of our long-term programs come to fruition.

All of the good work that we do to improve the lives of those with FD comes at considerable expense: each year the Dysautonomia Foundation spends at least $1,000,000 to operate the New York and Israel treatment centers and to fund clinical and scientific research. In the years to come, our budget will increase as we pursue clinical research and genetic therapies.

It is only because of the tremendous effort put forth by so many of you who have given generously with your money and time that we have been able to accomplish so much. I thank you for your support. As contributors and volunteers, you are the lifeblood of the foundation.

While I am extremely proud of, and grateful for, the large fundraisers and grant programs that support our budget, I am equally grateful for the $10, $18 and $100 donations made through our chapters, tribute cards and volunteer’s lemonade stands and mitzvah projects. All of these contributions, great and small, have equally added to the important advances that we have achieved and strive to achieve in the years to come. With your support, we will continue to pursue the best possible treatment, research and services for the benefit of people with FD.
- David Brenner

Following are excerpts from earlier messages from the Executive Director:

In terms of FD history, I'd like to point out three of the most important accomplishments over the last several decades:

1. The Foundation was created over fifty years ago by concerned parents who had nowhere else to turn. This "strength in numbers" led to the single most important factor in the care of FD patients: the establishment of dedicated treatment facilities (in the US and Israel) that serve as centers of excellence for medical care specifically for FD patients. These centers remain the only such facilities in the world, and have been used by more than 90% of all FD patients, worldwide.

2. The establishment of a permanently endowed professorship, at NYU, in the study of FD so that research and clinical care would have a worldwide focal point. This single accomplishment has led to the centralized coordination of care and research for FD, and has facilitated the work of the world's foremost authority on FD, Dr. Felicia Axelrod. (Note: In 2007, The Foundation endowed a second professorship for FD clinical research and adult patient care.)

3. The funding of independent research initiatives that led to the understanding of how FD functions and, even more importantly, the funding of a decade of work to lay the groundwork for, and ultimately to facilitate the discovery of the FD gene. All recent discoveries and therapies for FD are based on this work that has been funded by the Foundation.

As a result of the decades of work that produced these accomplishments, our "FD world" is now shaped by three exciting factors, each of which reflects our progress and points the way to new challenges:

1. FD patients live longer. This decrease in mortality and increase in life expectancy is the direct result of better treatment and research focused on FD. While we should all be grateful that FD is no longer considered a 100% fatal, childhood disease, we now have new challenges in addressing the needs of adult FD patients and further reduction in the mortality and morbidity of the disease for all FD patients.

2. Discovery of the gene has led to new research initiatives focused specifically on genetic treatment and cure. Researchers can now focus on addressing the root causes of the disorder, finally opening the door to the pursuit of definitive treatments that will reduce symptoms, stop the degenerative effects of the disease and, hopefully, lead to a cure.

3. Genetic screening has the potential to reduce the number of new cases of FD. The discovery of the gene has led to a definitive carrier test. We can now screen couples to determine if the risk of having a child affected by FD is present, and by doing so, we have the opportunity to decrease the frequency of new FD cases. Of course, these goals can only be achieved through a massive outreach to the Ashkenazi population to "get tested."

It is these three factors that influence the Foundation's current mission. Each one of the factors shapes our goals:

1. Patients live longer. Over the last twenty years, FD patients, under the care of the treatment centers, and through the use of gatrostomy, fundoplication, medication and other therapies, live significantly longer and are much less likely to die from aspiration pneumonia. As a result, the percentage of FD patients who are adults has increased dramatically. But they continue to require significant medical care as well as social services, and they are still subject to other causes of mortality. If we have succeeded in helping FD patients to live longer, we must now focus on helping them to live better lives.

Goals:

Provide enhanced adult patient medical services in addition to existing pediatric services.

Provide directly, or in conjunction with other organizations, social and psychological services for all FD patients.

Fund new research into the causes and prevention of FD-related deaths. (In the past we focused on reduction of mortality, and this led to treatment that reduced deaths from aspiration pneumonia. We now need to focus research on other causes of death to further reduce FD mortality.)

2. Discovery of the gene has led to the opportunity to study the root causes and mechanisms of FD. Such studies could lead to significant advances in treatment and, ultimately, could lead to a cure for FD.

Goals:

Continue and expand funding into research specifically focused on gene therapy and other methods that directly affect the expression and progression of FD symptoms.

Continue to encourage other organizations (such as the NIH) to pursue their own initiatives into the study and funding of FD-related research.

3. Genetic screening throughout the Ashkenazi population could significantly reduce the frequency of new FD cases. Yet we must not lose sight of the fact that the current patient population will require medical treatment and other services on an on-going basis.

Goals:

Large-scale public awareness initiatives must be undertaken to get our message out to both the medical community and the Jewish community.

Our message is a dual message: We must raise public awareness that a) the treatment centers are available to anyone with FD, and b) new cases of FD can be prevented through public education of genetic screening.

To sum up - the Foundation has been the leading organization in the pursuit of services, treatment and research for the FD community for the last fifty years. Going forward we will try to uphold and build upon that tradition by supporting the following initiatives:

Medical Treatment for existing and new patients;

Adult patient services, including social and psychological services;

Research into the causes and prevention of FD patient mortality;

Research into genetic and other medical therapies leading to the eradication of FD symptoms and a cure for FD;

Public awareness campaigns directed at the medical community and the public at large, geared toward preventing the occurrence of new cases of FD;

Public awareness campaigns geared toward informing the public of the resources available for treating FD patients;

Advocacy for legislation that provides benefits and services to FD patients and their families through new and existing government programs.