I was ten years old the summer I discovered that something was wrong with my baby sister. The first child born to my father and my stepmother, Mindy was about to celebrate her first birthday, but she couldn’t sit on her own and didn’t seem interested in crawling.
“She’s just taking her time,” I told my father.
“I’m not so sure,” he responded.
A few weeks later he and my stepmother received the worst news. Mindy was diagnosed with Tay-Sachs, a genetic disease found most predominantly in Ashkenazi Jews. The small developmental milestones Mindy had previously met slipped away. She lost her hearing, her sight, and control of her limbs. She was motionless other than the seizures that racked her small body. Mindy died at the age of three.
My father and stepmother didn’t know that they were both carriers of Tay-Sachs. Being carriers meant that, though neither were physically affected by the disease, together they had a strong chance of having a child that would be.
2 in 3 Jews test positive as a carrier for at least one genetic disease. When two carriers reproduce, they have a 25 percent chance, with each pregnancy, of having a baby affected with that disease, a 50 percent chance that the baby will be a carrier, and a 25 precent chance that the baby will be free of the disease and carrier status. Eighty percent of babies born with genetic disease are born to families with no history of that disease, and our family was no exception. Mindy was the first and only child in our family afflicted with Tay-Sachs.
Tay-Sachs is not the only disease that Jews should be tested for, and comprehensive genetic carrier screening panels look for markers for hundreds of diseases. Ashkenazi Jews are more likely than the rest of the population to carry Gaucher disease, cystic fibrosis, familial dysautonomia, and Canavan disease, just to name a few.
Here’s the good news: today, a simple saliva test can determine whether you and your partner carry these genetic diseases. Though it can be emotionally challenging to find out that you are a carrier, there is hope. What is important is that you find out before you get pregnant, so you can speak to a genetic counselor or your doctor about your options.
Carrier screening is easier today than it was twenty years ago, when I was last screened. In 2001, before I became pregnant with my first son, I had my blood drawn to test for 16 diseases. I tested negative as a carrier for each one. Recently, after I learned that carrier screening has evolved to check for hundreds of diseases, I decided to be retested. The screening process was much simpler through JScreen. I filled out their website form and was sent a small kit in the mail with basic instructions. I sent my saliva sample off to the lab via FedEx that evening. When the results came back, I was surprised to discover that I am a carrier of three diseases.
If I hadn’t received this updated screening, I wouldn’t be aware that I am a carrier, and that my siblings and children need to be screened as well. If you, like me, discover that you are a carrier, but your partner isn’t a carrier for the same disease, there is likely nothing to be concerned about. If you AND your partner are both carriers, there are ways to prevent having a child afflicted with the disease.
One is IVF with genetic testing, where only healthy embryos are implanted in the uterus. Another is prenatal testing, where you can find out early in the pregnancy through CVS, chorionic villus sampling; where cells from the pregnancy are tested from the cervix between 10 to 14 weeks into a pregnancy, or amniocentesis between 15 and 20+ weeks into a pregnancy. If the baby is affected with the disease, you can decide whether to move forward with the pregnancy at that time–provided you are in a place where such options are still legal.
Having an affected baby is less prevalent in the Jewish community than ever before, because of the abundance of carrier screening. Most obstetricians are proactive about recommending the testing to Ashkenazi Jews when they are expecting. But it is ideal to be tested before conception. Not only can it be nerve wracking to await test results once a pregnancy is underway, but often once an expectant couple finds out that their baby is affected, it is too late. They are forced into the position of terminating the pregnancy or carrying the baby to term only to watch it suffer from the malady. Because laws around terminating a pregnancy vary by state, it is crucial that you undergo carrier screening as early as possible.
Please do not think that you are in the clear because your partner is not Jewish. Currently more babies with Tay-Sachs are born to couples who are not Jewish, or where only one partner is. Many people have Jewish genetic ancestry that they are unaware of, and it’s not the only population that is affected by the disposition to carry these diseases. Tay-Sachs is also prevalent in the Irish, Cajun, French Canadian, and Amish populations.
If you find the cost of carrier testing prohibitive, there are resources available in Illinois, New York, Florida, and Arizona that will cover the payment after insurance for residents. JScreen, however, provides testing nationwide and has genetic counselors to explain results to a couple and help them navigate their options. The program fee for their ReproGEN test is $149 regardless of your insurance coverage, and currently, to promote Jewish Genetic Screening Awareness Week, JScreen is offering a discount of $72 through the month of February for those who register for screening on their website (use code JGSAW23).
My father and stepmother went on to have two healthy children, but we will never forget my sister Mindy or how her decline and death affected our family. I share Mindy’s story whenever I can to prevent others from suffering a similar tragedy. Please forward this article to friends you know who might be considering having a child and post it on social media. The more people are informed about genetic screening, the more likely they will be to seek appropriate screening before it is too late.