My wife and I took the genetic tests. When the doctor told us we were in the clear, there was a measurable sense of relief. We knew there was a risk, since both of us are Jews of Eastern European ancestry. Twenty-five percent of Ashkenazi Jews, after all, are carriers of at least one of 19 different Jewish genetic diseases (J Community Genet (2014) 5: 223-231). We didn't have to worry about that, though. We were "all good."
Three months after our beautiful daughter, Eden, was born, we got a feeling -- call it parents' intuition. She was far behind other babies her age in terms of growth and muscle tone. At around 9 months old, we turned to physical therapy to help her sit up and surgeries to correct her crossed eyes. Through it all, we trusted the constant symphony of voices telling us it would all be okay, nothing was wrong and we were thinking too much. Doctors made concerted efforts to ease our worry that something wasn't right.
Against the advice of those voices, we trusted our parental intuition and took our little girl to a neurologist who conducted a brain scan. The results showed that something was very wrong, although he didn't know what. Time passed with more tests ordered by the neurologist and then visits to a geneticist. Weeks felt like decades as we awaited the results from the geneticist's tests. Then, the gut-wrenching diagnosis: Mucolipidosis Type IV (ML4), a genetic condition that inhibits physical and mental development, causes degeneration of the retinas and limits lifespan. A Jewish genetic disease, no less, and one that should have been identified in our initial screening.
My wife, Caroline, and I later discovered she had only been screened for eight Jewish genetic diseases. I had only been screened for two. It was this revelation that there was no "standard panel" of Jewish genetic diseases that propelled us to activism, working diligently to educate the public about the importance of screening for all 19 known Jewish genetic diseases.
Knowledge is the key to avoiding the stress, worry and heartache that we have experienced. I strongly disagree with commentary, like this recent op-ed in the New York Times, that having a baby in the modern age means parents are privy to "too much information." More information, I argue, helps couples make informed decisions for the happiness and health of their future families. More information, I argue, may help future parents avoid my family's story. I am so pleased that the baby in the Times op-ed is healthy, and I promise you any stress this couple dealt with as a result of genetic testing during their nine months of pregnancy doesn't compare with what my family deals with every single day of our lives.
Articles criticizing so-called over-informed pregnancies have also gotten a few things wrong. First, physicians need to recommend genetic screening before conception. Getting screened and finding your carrier status prior to conception gives you options for how to have a healthy baby of your very own and eliminates discovering your status once the baby is in the womb. With results in hand, a couple can speak with a certified genetic counselor about all the different ways they can have a baby and ensure he or she is free of genetic disease.
Second, the average Joe and Jane having their first child are not being pushed to fear pregnancy if their doctor suggests prenatal testing. The risks of genetic conditions are real. Screening isn't about fear or ruining the joy of pregnancy, it's about protecting your future child. The "simpler days" when we didn't have to worry about genetic tests weren't simpler. They were simply quieter. Babies that weren't born "normal" weren't spoken about.
Finally, we have crossed the country and worked closely with Jewish communities to make clear the benefits of genetic screening before conception, regardless of whether a couple is having their first child or a subsequent one. True, more doctors need to recommend genetic screening, but they need to recommend a comprehensive list based on the patient's demographic background. While Jews might have a higher carrier rate for diseases like ML4, Tay Sachs and Gaucher, people of African ancestry are more prone to carrying Sickle Cell Anemia and people of Asian ancestry are more prone to carry inherited blood diseases (Obstet Gynecol. 2007 Jan; 109(1): 229-37). For Jews of Eastern European decent, we know there are 19 diseases that should be screened for, and for other demographic backgrounds, talking with your doctor to determine the genetic testing that is appropriate for you is a major step towards a family life with less stress, not more.
Today, tests as simple as a saliva sample can help ensure a healthy child free of these diseases, saving a lifetime of tragedy. Genetic testing isn't meant to be scary. It's meant to be accessible and to give you the happily ever after you dreamed about. I think there are many out there, like me, who take the health of their families very seriously. That's why, when it comes to creating another member of the family, there is no such thing as TMI.
---
Randy Gold is a longtime Jewish community activist, father and businessman in Atlanta. Experience with their daughter turned Randy and his wife, Caroline, into champions of education and screening to prevent Jewish genetic diseases, including helping create the nonprofit testing and genetic counseling organization JScreen.org and leadership in the Mucolipidosis IV Foundation.