I asked my patient to comment on his lifelong experience with a genetic disease. He is an extremely bright successful young man who has combated his illness bravely and gallantly. No matter where he is in the world, I will always be available to help him.
—-Norman Lavin, M.D., Ph.D.
As a patient of Dr. Lavin’s, I would like to share my story of living with a Jewish genetic disease. I am an Iranian Jew, and although the genetic conditions prevalent in the Ashkenazi Jewish Community are well known, genetic mutations are not unique to the Ashkenazim (See “Persian Jews and Genetic Diseases”, Jewish Journal Blog, June 6, 2010). The Iranian Jews also have certain genetic predispositions to disease. My condition is known as Autoimmune Polyendocrine Syndrome (APS); it is one of the four diseases prevalent among Iranian Jews. This disease is associated with a genetic mutation in the AIRE gene. The AIRE gene is thought to prevent the immune system from attacking your own body; however a defect in this gene causes the body to recognize certain endocrine glands (hormone producing glands) as foreign and to attack them. Each individual is different in terms of which glands are attacked, however the full disease is usually manifest before the age of 20. In my case, I was first diagnosed with celiac disease when I was 9 years old. I was unable to eat gluten products anymore due to the reaction my body had to gluten. We did not realize then that the Celiac disease was only one part of a more general condition. When I was 16, I became extremely fatigued and experienced constant muscle cramps. Dr. Lavin found that my calcium had dropped to very low levels and diagnosed me with Hypoparathyroidism. Only after this diagnosis did we begin to understand the true nature of my condition. I flew to Denver to visit Dr. George Eisenbath, a specialist in APS, and after genetic testing he determined that I did in fact have the mutation in the AIRE gene that is common to the Iranian Jewish Community.
My experiences have led me to an awareness of some of the deficiencies in today’s standards for Jewish genetic screening. Unfortunately, some of the services that are available for Jewish genetic disease, such as Dor Yeshorim ( an international, confidential genetic screening system used mainly by Orthodox Jews), are strongly geared toward Ashkenazi genetic disease. Smaller Jewish communities are almost ignored by these services. I believe that it is very important to include the entire Jewish community in the services provided. I have also learned that there is a strong stigma associated with genetic disease. Thanks G-d, genetic disease is better understood today and most follow a predictable pattern of inheritance. Unfortunately, it is very difficult for many people to look at these issues objectively rather than viscerally. Much needs to be done in terms of education to increase awareness of the genetic mechanisms of disease onset and inheritance. I hope this forum acts as a portal where people can become more aware of the true nature of genetic disease and I trust that with better public awareness, stigma will gradually dissipate.