By Dennis Kessler, Board Member and Former Board Chair
In 1978, our son Art was diagnosed with “generalized dystonia.” My wife, Barbara, and I were pleased to have a diagnosis after a three-year search, but devastated to learn the possible progression of this movement disorder. Dystonia is a condition in which muscles contract by themselves, and they often contract too much. When dystonia affects broad regions of the body, it is known as generalized dystonia. Dystonia is one of the disorders more common in the Jewish community.
We didn’t know where to turn. Luckily we found the Dystonia Medical Research Foundation. The education and support we received from this patient advocacy group was and remains invaluable.
In 1999, I and a few others founded the Center for Jewish Genetics (now the Norton & Elaine Sarnoff Center for Jewish Genetics). We founded the Center with the goal of educating the Jewish community about Jewish genetic disorders and helping carriers of these disorders to understand their family planning options. Later, we added subsidized genetic screening.*
One in four Ashkenazi Jews is a carrier of one of 19 recessive genetic disorders seen more frequently in the Jewish population, but most do not know it. Science has now developed ways that we can test for these 19 disorders – and many others – with a simple saliva test. The Center’s genetic counselor delivers results to every participant in our carrier screening program and can help carrier couples understand their options and plan for a healthy family. Our goal is to empower individuals with the knowledge to make informed decisions.
When the Center was founded, there was no technology available that would allow our son Art and his wife Wendy to be sure their natural born children would not inherit the genetic mutation that causes dystonia. Since the time of their marriage, medical science has developed new technology called PGD (Pre-implantation Genetic Diagnosis) to help couples like them avoid this situation. Thanks to the work that was done by the Dystonia Medical Research Foundation in discovering the gene responsible for dystonia, and with the assistance of PGD, Art and Wendy have given birth to two children who do not carry mutations in the gene associated with dystonia.
We have stopped dystonia from being passed on to subsequent generations in our family.
That is how the work of the Center has changed the lives of my children and grandchildren as well as hundreds of families. We are “Changing Jewish History,” one family at a time. It is an honor to be part of such an important endeavor.
* Dystonia is an autosomal dominant condition that occurs with increased frequency in the Jewish community. Screening for dystonia is not currently available through the Center’s carrier screening program, which focuses on autosomal recessive and X-linked conditions. If you have questions or would like additional information, please contact our genetic counselor.