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Something Was Wrong with Our Baby, and We Didn’t Know What

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My home is filled with beautiful things I inherited from my grandparents: jade-green glass plates made during the Depression, Tiffany-blue enamel lamps, an antique wooden music stand.

Yet the most significant inheritance from them is practically invisible. It’s microscopic. No one knew it was there at all until one day it came roaring to life in the DNA of my younger daughter, Rebecca.

I grew up with my Nana Ray’s stories. My grandmother was born into poverty in Queens, when it was still farmland, and she came from a large family. Besides her six living sisters and two brothers, there were two other children who died as babies. Nana said it was pneumonia. I never thought much of it – lots of babies died 100 years ago – until my second daughter was born, in 1997.

Rebecca came two weeks early, and she was a beautiful, happy baby. I worked at the time as an advertising account supervisor managing a $20 million healthcare account, and after having my first daughter 22 months earlier I thought I was going to pop out baby No. 2 and go back to work. The pregnancy had gone smoothly.

But Rebecca could not nurse. The hospital staff told me I was doing it wrong, yet I knew what I was doing: I had just nursed her older sister. Rebecca finally took a bottle, but it was very difficult. Feeding her could take up most of the day.

When she was 10 weeks old, on Passover eve, she got her first respiratory infection. The pediatrician sent us to our local hospital, and after a test for cystic fibrosis came back negative they said the problem was nothing more than reflux and reflux-induced asthma.

But Rebecca kept getting sick, often with pneumonia. Then the seizures started. We went to more doctors than I can remember, and nobody could figure out what was wrong. In between illnesses, she seemed healthy and was meeting all her milestones, like crawling. But she kept getting pneumonia.

It took a full year – and a chance conversation at a family bar-mitzvah in Florida – until someone suggested what turned out to be the cause of Rebecca’s ailments: a rare Jewish genetic disorder called familial dysautonomia. Known by the acronym FD, the disease affects cells in the nervous system that control involuntary actions like chewing, swallowing, digestion, breathing, balance, pain sensation, temperature sensation and blood pressure. It’s a life-threatening disease, and requires careful management by patients and their families on a daily basis.

Scientists believe the FD mutation originally appeared about 400 years ago, somewhere near Odessa and Warsaw. Because we Jews lived and married in tight-knit circles in the shtetls of Eastern Europe, the number of carriers of particular gene mutations increased.

I carry a recessive genetic mutation for FD and had no idea. So does my husband. Today, anyone can be tested for FD and more than 200 other genetic diseases common among Jews. You can even do it from home: All you have to do is spit in a container and pop it in the mail to JScreen. But the FD gene was not identifiable back when we had our children. We had only gotten tested for Tay-Sachs disease.

When Rebecca was diagnosed with FD, the day before she turned 1, she was patient No. 513 in the world with the disease. In total, about 600 people have been diagnosed since FD was first identified in 1949. Today, there are about 300 FD patients alive.

Rebecca is different from almost all of them. She has one of the mildest forms of FD ever observed. Likely, this is because genetic mutations are just part of the story. For whatever reason, Rebecca’s body produces a lot of good proteins, and her body has responded well to many interventions. So she lives with one foot in the world of medical disability and one foot in the “normal world.”

She’s now 20 years old and entering her junior year at Pace University, where she’s majoring in communications. During the summer, she works as a counselor at a JCC summer arts camp. She loves watching the Food Network and eating exotic foods. She’s always on social media, talking with her FD friends around the country. For someone dealing with her level of medical intensity and complexity, Rebecca is remarkably happy, optimistic and kind.

But she has physical limitations. Rebecca drinks all of her liquids through a feeding tube in her stomach, which she has had since she was 15 months old. Her spine is completely fused, so she can’t twist very well and her sideways movements are constricted. She has problems with coordination and spatial perception. Her body does not adapt well to changes in temperature, and she needs to stay inside on hot summer days.

Maintaining her body takes an enormous of time and work. There’s medicine and nutritional supplements and constant hydration. She needs eye drops at least twice a day because she doesn’t produce tears, putting her at risk for corneal abrasions. She gets physical therapy and goes to a personal trainer once a week. She does not have the same level of endurance as other people her age. She needs a lot of rest.

It is entirely possible that my grandmother’s two siblings who died as babies had FD and no one knew. All they knew was those babies were sick and weak and did not thrive. So I could be mad at my genes. But what good would that do? My grandparents had no idea FD existed.

After Rebecca was born, it took a yearlong medical odyssey through hell to figure out what was wrong. If it would have taken much longer, I think we would have lost her, because Rebecca had had about a dozen pneumonias and a lot of scarring on her lungs. Because of that first year of groping in the dark, Rebecca must live the rest of her life with compromised lungs that affect her every day.

That could have been avoided had I known about her FD on Day 1.

Information is power. With genetic testing, you can avoid the hard road and have medical literacy about your own body. It’s not just about the children you will have. This impacts the Jewish community for generations to come. Mutated genes are out there. You need to know what you’re carrying.

When we finally got Rebecca’s diagnosis with this rarest of Jewish genetic diseases, at least it gave us a path. At least we had an answer.

Today there are ways for carriers of mutated genes to have children safely, with preimplantation genetic analysis and IVF.

But I never had another child. We thought about it when Rebecca was about 4 and we could have done so safely, but we decided to devote our financial and emotional resources to the two daughters we were given.

I could spend my days focusing on the bad genetic luck I inherited. Or I can focus on much more than that. Most days, I can.

(This article was sponsored by and produced in partnership with JScreen, whose goal of making genetic screening as simple, accessible, and affordable as possible has helped couples across the country have healthy babies. To access testing 24/7, request a kit at JScreen.org or gift a JScreen test as a wedding present.)

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