Today, an Op-ed piece I pitched to the Globe before the annual NTSADConference in Boston. The paper didn’t pick it up, but I’m posting it here.
A helpful guide for aspiring Op-ed writers tells me that opinion pieces like this are “generally written by people with special expertise or credibility in a certain field.” Here is my expertise: my baby is dying.
Don’t worry, there’s no 5K race to sponsor, no wristband to buy, no celebrity spokesperson to endure. His condition is too rare. Ronan was born with Tay-Sachs, a progressive neurological genetic disorder. Someday there may be a treatment, or even a cure – but not soon. No lobbying, no donations, no raised awareness will save Ronan. He never had a chance – but other babies do. Which is why I want to talk about genetic testing.
This weekend, the families of children like Ronan will gather at the Hyatt Regency here in Boston for the annual conference of NTSAD, the National Tay-Sachs and Allied Diseases Association. We’ll talk about seizure medications, feeding tubes, breathing tubes, hospice teams, grief management. There will be memorial events for the children who died during this past year of Tay-Sachs, Sandhoff, Canavan and other disorders that you have probably never heard of. And luckily so; we parents who watch and wait as our children lose their sight and hearing, become paralyzed, then vegetative, then dead, dearly wish that we had never heard of these disorders either. No parents should have to sit by helplessly while their children are taken from them, little by little. But for me, the worst thing about my son’s situation is this: it was entirely preventable.
I had lots of tests. I’m thorough, and a little paranoid about such things since I was born with a congenital birth defect myself. My condition wasn’t genetically inherited, but Ronan’s was. Tay-Sachs can be passed along indefinitely without the disease itself manifesting. It takes two carriers to make a Tay-Sachs baby, and even then there’s only a one in four chance that the baby will have the disease rather than just being another carrier. The test is usually only recommended for parents of Ashkenazi Jewish descent. That’s the population considered “high risk” for Tay-Sachs. I’m Irish and German, not Jewish – but I got tested for Tay Sachs anyway. The test came back negative.
The test came back negative, but Ronan will die. This doesn’t mean that genetic testing is useless. On the contrary: genetic testing is a vital tool that can save children’s lives and prevent the devastation of a parent’s world. What it does mean is that we need to consider more carefully who should get tested for what, and why. As it turns out, there are about a hundred mutations of the Tay-Sachs gene. Unfortunately the common, standard prenatal screening only detects the nine most commonly detected mutations – commonly detected among those of Ashkenazi Jewish descent, like my husband. My own mutation last surfaced in 1997, among people of Moroccan descent.
If the misconception that Tay-Sachs is a “Jewish” disease persists, more babies will be born without a future. The families attending this weekend’s conference know this. It’s the genetic counselors who haven’t caught up yet. Until gaps like this are rectified, until the testing catches up with the facts, and until insurance companies are willing to redefine the “standard” array of tests, more families will suffer this kind of horrific loss and the great potential of prenatal screening will never be achieved.
I know the words “genetic testing” raise a red flag for some people. Invasion of privacy! Who knows where your genetic information might end up? But weigh that against parenting your child into an early grave. There are many “rare” diseases and disorders that, like Tay-Sachs, are preventable. If this can happen to my child, it can happen to anyone’s. Playing the odds just isn’t worth it.