By Cynthia Stern Schloss
When is the big day? Will it be a large wedding? What is your dress like? Where are you going on your honeymoon? Do you plan on starting a family? When are you having genetic testing? Excuse me?
Genetic testing is a topic not typically posed to brides-to-be. After all, who thinks about something like that at such a happy and wonderfully positive time? The truth is, it is the perfect time.
It is the perfect time because you are planning your future. A blood test can alleviate doubt and a lifetime of heartache, whether you are marrying someone who is Jewish, or not.
Genes exist silently for generations.
The possibility of passing on a genetic illness to your child is very real. Fatal diseases such as Tay-Sachs or Canavan occur most often in families with no prior history of the disease. That is because these genes can be passed through generations of carriers and it is not until two carriers partner that the risk of an affected child becomes a reality.
A blood test can tell whether or not you are a carrier of the genes that cause Tay-Sachs disease or Canavan disease, both which occur disproportionately, but not exclusively, in people of Ashkenazi Jewish heritage (Eastern or Central European descent). Most importantly, testing can identify carrier couples who are at risk for bearing a child with one of these disorders before a tragedy occurs. If you or your fiancé is found to be a non-carrier, you will know that you cannot have a child with Tay Sachs or Canavan disease. If you are identified as a carrier, you do not have the disease, but can pass the altered gene along to your child. If both of you are carriers, there is a 25% chance with each pregnancy that the baby will be affected. You should speak with a genetic counselor and notify your ob/gyn or midwife for family planning practices.
While thinking about caterers, musicians and photographers, you might be wondering, “What is the point of all this?” Just like everything else related to your wedding and your marriage, it’s all about planning for the future.
The real risk factors.
One in 27 Ashkenazi Jews, French-Canadians and Cajuns are known to be carriers of the Tay-Sachs gene. Between one in 50 and one in 190 Irish-Americans are carriers of the Tay Sachs gene, and one in 250 Sephardic Jews and one in 250 people in the general population are known to be carriers. Tay-Sachs disease crosses all ethnic, geographic and socioeconomic boundaries, leaving no one immune. Similarly, one in 35 Jews of Ashkenazi descent carries the Canavan gene. Although the specific is unknown, Canavan disease does occur among the general population. Both Tay-Sachs and Canavan are genetic disorders that affect the central nervous system with no treatments or cure. In the case of classic or infantile Tay-Sachs, children usually die before their fifth birthday. For those affected by Canavan disease, life expectancy can go into adolescence. Knowing these realities and knowing that a simple blood test can prevent a horrible family tragedy, isn’t it worth having genetic testing?
Tay-Sachs is a very real disease that does not discriminate. My son died one week before his second birthday and I do not want this to happen to anyone else. Tay-Sachs and Canavan are preventable, so if you plan to have a child, you should plan to have these important carrier screening tests and perhaps others. For more information, please contact National Tay-Sachs & Allied Diseases Association (NTSAD) at (800) 90-NTSAD or visit their website at ww.ntsad.org.
National Tay-Sachs & Allied Diseases Association, Inc. is dedicated to the treatment and prevention of Tay-Sachs, Canavan and related genetic diseases, and to providing information and support services to individuals and families affected by these diseases, as well as the public at large. The strategies for achieving these goals include public and professional education, research, genetic screening, family services and advocacy.