Earlier this year, Rabbi Ilana Garber found out her 1-year-old son has a genetic disorder known as Fragile X Syndrome. She was kind enough to share about this difficult experience with us, from the day of his diagnosis to her current fight to improve prenatal testing questions.
I understand that your 18-month-old son was recently diagnosed with Fragile X syndrome. What does that diagnosis mean? How are your son’s behaviors different from other children?
Fragile X Syndrome is a genetic disorder. Unlike most genetic diseases (like Tay Sachs, for instance), with Fragile X, it’s not about two parents being carriers of a disease; instead it’s about one parent having a mutation on the X chromosome. I am a carrier of a pre-mutation of the gene (which has certain health implications for me down the road) and my son has over 200 repeats of the mutation, so he has Fragile X Syndrome (FXS).
FXS is most commonly associated with developmental delays, intellectual disability, and autism. It’s not fatal, thank God, but it’s a very different life than what we had planned for our son, and while there are some drug treatments out there, they are still trials and our son is still too young to even participate. What a diagnosis of FXS means for us is that we finally understand why he does not yet speak or even communicate (he’s 18 months old and barely communicates like a 6-month-old). It also explains his many anxieties–new people, loud noises, sudden motions, and strange foods can all “set him off” into a meltdown that can last anywhere from a minute to an hour.
Could you talk a little about your reactions to the diagnosis–as a mother and as a rabbi?
The diagnosis came on March 20, 2012–a day I will never forget. It was the opposite of the first day of spring for us. My husband and I cried for a week–literally a week. I never thought my sadness would end. We needed to mourn everything–all of the hopes you have for your child: he’ll probably never drive, never go to college (at least not the kind of college we expected), and never get married. He’ll be our responsibility forever. Will he talk? Will he read? Will he be potty trained before he’s 10? It was awful. Thank God, my husband and I had spent a few sessions with a lifecycle coach before we got married (premarital counseling) so we had a familiar person to run to for comfort and guidance (for those who are about to get married, I cannot recommend this enough!). And our families were great. They offered unconditional support and love, as well as faith in us as parents. And then, just like that, after one week of mourning–our own personal shiva–things got much better. I would still burst into tears on the elliptical at the gym (something about the combination of good music and adrenaline I guess), but eventually we moved from reaction to action.
As a rabbi, I really struggled because I spend my days “talking to God” and boy, were we in a fight! I was so mad. So mad. I cried during services a lot. But the hardest was (and still is) standing proudly at bar mitzvah services, watching “normal” children and pleased parents. It’s hard not to “go there” each week. It’s hard to be present for others, making meaningful Jewish lifecycle experiences, knowing how it won’t happen (or won’t happen as easily) for my son. I’m jealous, I’m sad, and if I get caught up in it too much, I can get very depressed. Lucky for me, I have an incredible community where I serve as the rabbi. My husband and I are raising our children in our committed Jewish community. We were very open about our son’s diagnosis and we continue to educate people in any chance we get.
You are now working with your ob-gyn practice to change how prenatal testing questions are posed. Could you elaborate on those discussions?
After the diagnosis, my grief turned to anger, and it was directed at my ob-gyn for not instinctively knowing to do prenatal testing for Fragile X. Crazy to expect this, I now realize, although I also think that if more questions had been asked of me, I might have thought to share that I knew of two third cousins with FXS. But third cousins seem so distant–and I hadn’t seen them in over 10 years. So I’ve started to talk with my ob-gyn practice about educating providers to ask more questions. I’m thrilled that a doctor in my practice who is also a congregant has a personal interest in this and he is working to explore how prenatal testing is conducted, what questions are asked, and how results are monitored. This is only the beginning, but I’m excited to bring my personal story into educating and advocating for the future.
What kind of support have you found in the Jewish community for those who are going through similar circumstances? What kind of support would you like there to be?
As I mentioned earlier, our Jewish community has been incredible. Everyone is supportive and caring and offering lots of help. It’s been wonderful but of course it doesn’t take away our pain or fears. We’ve met some amazing people who have children with FXS–even Jewish families who live near us–and that has been lifesaving. I’m also finding support in a closed group on Facebook and by tweeting very openly. Right now that’s about all the support we need, though going forward we have some big challenges to tackle: where will our son go to school and how will he receive a Jewish education, for instance. I know there are options out there–I’m hoping our community is ready to make something a reality by the time we need it.
Rabbi Garber is the associate rabbi of Beth El Temple in West Hartford, Connecticut. She serves on a professional advisory committee for the Hebrew Health Care Home Health and Hospice program and as co-chair of the Rabbinical Assembly Women’s Committee. Rabbi Garber is married to Dr. Adam Berkowitz, a musician, and they have two sons, Noam and Yaron.