I am going to be part of a panel speaking to a Jewish college group in Washington, D.C. next week about screening for genetic diseases, as the parent of a child with a Jewish genetic disease. Please indulge me while I gather my thoughts.
I want to tell a story so compelling that these innocent college students will remember it when they contemplate having children. I know it feels very far off for most of them. I want it to be a “scared straight” moment that they won’t forget. Here’s what I’m thinking about telling them.
I am you. You might see someone who reminds you of your mother in front of you today. But I was once a young, carefree college student with the world at my feet. I figured I would have a fulfilling career, marry a wonderful man, have perfect little babies, and live happily ever after. End of story.
Not so much.
I did have a fulfilling social work career and married a great guy. I was screened to see if I was a Tay-Sachs carrier – the only disease my OB/GYN suggested at the time. I was not. I had one perfect baby. Check – everything going according to plan. I was approaching 35 when I became pregnant with my second child, so I opted for an amniocentesis. All tests were fine. I gave birth to my second son on September 4, 1998. Things were not fine at all. Right from birth, we knew something was wrong with this child. It took us an agonizing year to find out exactly what. He looked fine and was hitting his milestones, but he did not eat or take a bottle well. Forget about breastfeeding this baby. They figured out he had a problem with his swallowing, so that his formula was going into his lungs instead of his stomach (aspiration). They placed a temporary nasal gastric tube. Imagine walking through the grocery store with your new baby, with a tube in his nose. When it wasn’t resolving, they put a more permanent tube in his stomach instead. At seven months, it occurred to me that he didn’t have tears when he cried (which he did a lot.) My husband said,
“I knew someone who didn’t have tears when I was growing up; they had an awful Jewish disease.”
Then the terror set in. Hope for a normal child was waning. After seeing neurologists, gastroenterologists, pulmonologists, and finally a geneticist, we figured out what was wrong with our baby. Familial Dysautonomia. A Jewish genetic disease where both parents have to be carriers. With each pregnancy there is a one in four chance that the child will have the disease – twenty five percent. We had gotten lucky with our first baby. Not so much with this guy. Poor Ben. Poor us. Let the grieving begin. We went to see the specialist in New York City, who provided the guidance and game plan for us.
At the time Ben was born, there was no carrier screening for this disease as they had not identified the gene yet. So there was nothing we could have done to prevent this from happening with this child. But we could check subsequent children, should we decide to have them, with genetic markers since we already had a child with this disease. Which we did. And we were lucky that the odds were with us and we had two more healthy children. It was not without anxiety and hard decisions about what we would do should we become pregnant with another child who had FD.
Life with Ben has been full of joy and agony. When he is well, he is a sweet, happy fifteen year old who walks, talks, and eats some food. He will have the feeding tube for the duration of his life, but he is able to give himself his formula independently. He sometimes uses a wheelchair. He had a bar mitzvah and was able to chant Torah. He goes to a regular school. He loves video games, the family dog, his brothers and sister.
He is my child who will say, “Oooh Mom, you look beautiful” when I dress up to go out.
When he is not well, it is torture. He has autonomic “crises” which means that he feels nauseous, has a very high heart rate and uncontrollable retching. These can last for hours and can come in clusters over several days. We have no way of predicting when they will occur. Sometimes they result in hospitalization. Always they are traumatic for Ben, and our whole family. We are experts at “Plan B” as I like to call it. We are grateful to our friends and family who help us at a moment’s notice.
We are as normal a family as we can be. Having Ben humbles all of us and makes us grateful for our typical bodies and health issues. I joke that my children don’t have “pedestrian” pediatric illnesses. Minor things don’t shake us up. We have met people who we never would have come in contact with had we not had Ben.
In terms of life expectancy, they say that half of the people born with FD live until at least thirty years old. Their health is fragile and unpredictable. I have come to accept that we don’t know what’s going to happen with any of our children, or ourselves for that matter, so I don’t spend a lot of energy worrying about how long Ben will live. We just raise him the best we can and plan for a hopeful future.
We live in a time when people have more information and choices when planning their families. But you can not make an informed decision unless you get the necessary information. I urge people to get the full panel of genetic tests, which can be done simply by taking a blood test. Many of these genetic diseases are devastating, for the child, the parents and the whole family.
Ben and I are living proof that it can happen to you too. There are so many awful things in life we have no control over. This doesn’t have to be one of them.