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Tuesday, July 22, 2014

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Engaged? Get tested for genetic diseases

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Rabbi Catharine Clark

Did you get engaged over New Year’s, or maybe on that Hallmark holiday in mid-February? If so, mazal tov! The next few months will be exciting as you select invitations, make a guest list, and register for gifts to fill the home you will make with your bashert.

I want to add one more item to your to-do list: if you’re of Ashkenazi Jewish descent, get screened for Ashkenazi Jewish genetic diseases.

Tay-Sachs, a neurological disorder that is usually fatal by age four, is the most infamous of these disorders, but there are many more potentially devastating Jewish genetic diseases. Canavan disease, another neurological disorder characterized by seizures before death in childhood, and familial dysautonomia, symptoms of which may include poor growth, insensitivity to pain and a shortened lifespan, are just two examples.

These and other Ashkenazi Jewish genetic diseases appear in 25 per cent of cases where both parents are carriers for the gene. Carriers themselves are usually healthy individuals, which is why screening is so important. You’d never know of this risk to your children otherwise.

If screening reveals that both you and your partner are carriers for the same genetic disease, you have options for having the family the two of you have always dreamed of. You can adopt, or use donor egg or sperm screened for Jewish genetic diseases. You can become pregnant and test the fetus early in pregnancy to either abort or plan for a child with likely severe health complications. You can use IVF and implant only unaffected embryos.

Get screened even if your bashert is Sephardi or was not born Jewish. If your results show that you are a carrier for one or more of the diseases, your partner should be screened also. While it’s more common for Ashkenazi Jews to be carriers of these genetic diseases, these genetic mutations do occur in the general population. Moreover, sometimes an individual whose family has identified otherwise for two or three generations in fact includes an Ashkenazi Jewish grandparent in the family tree, thereby increasing the risk of carrying one of these genetic mutations.

Get started now on the process of being screened. JScreen, the Victor Center for the Prevention of Jewish Genetic Diseases in Philadelphia, and the Jewish Genetic Disease Consortium in New York all recommend being screened for the full panel of 19 Ashkenazi Jewish genetic diseases for which a test is available. However, the current recommendation in Canada is to screen for at most 10 of these disorders.

Make an appointment with your doctor for a referral to a genetics counsellor to see what your options are. Or, to be screened for all 19 diseases, get in touch with Counsyl labs in the United States. They will work with you on the cost, and with your doctor to get a test order. More information on Ashkenazi Jewish genetic diseases and on why it’s important to be screened for all 19 is available on the websites of JScreen, the Victor Center and the JGDC.

Again, mazal tov! Please take this step toward a life with your bashert filled with many more simchahs.

Rabbi Catharine Clark is spiritual leader of Congregation Or Shalom in London, Ont.

 

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