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.
Susan Stillman is inspirational. She has raised an amazing family with so much love and joy to go around. xoxo
Mission accomplished. Your generous and straightforward story, will stay with me, as I imagine it will with your audience.
When our baby had similar issues (and turned out to have FD just like Ben), a mutual friend pointed us to your family, and you were so kind to share about your experiences. I think you will give those students a talk they will never forget. What a generous thing to do.
I agree with you, Susan. Thank you for writing this.
One of the most interesting books I have read on this topic is Blood Matters by Masha Gessen (http://www.amazon.com/Blood-Matters-Inherited-Designer-Ourselves/dp/B005IUPX5Y), which I found at the public library. The chapter on how traditional matchmaking was combined with modern genetic testing was fascinating.
Susan, your writing remains beautifully posed. But, what am I missing here? And, am I speaking out of turn? Forgive my lack of knowledge. I do not walk in your shoes. But what would you have done differently had you known the results of positive genetic testing? Better prepared yourselves?
Barbara, Thank you for your thoughtful note. Here are the options if a woman screens positive for a genetic disease, before she ever gets pregnant:
– her potential male partner should get screened; if he is NOT a carrier for the same disease, there is no issue.
– if said partner is a carrier, the couple can a) choose not to marry b) choose adoption c) do pre-implantation diagnosis (this involves in vitro fertilization followed by testing the embryos before they are ever put into the womb – if they have the disease, they are not used) or d) get pregnant and do genetic testing – the couple can either be prepared for the birth of a child with significant health issues or terminate the pregnancy.
In my case, we didn’t have the option to test if we were carriers for any genetic diseases (other than Tay-Sachs)prior to getting pregnant. Had I known earlier in my pregnancy, I would have been prepared for the birth of a disabled child and he would have avoided the assault on his lungs the first year of his life. Or I would have terminated the pregnancy.
Susan – thanks again for allowing my friends & family to better understand our world. You’re ability to make it real but still readable is great!
Larisa Trainor – do you remember me? I think it was from my Bowker days. Didn’t expect our paths to cross again.
Susan – once again you have scripted a beautiful, thoughtful and informative story. I use your inspiration to continually look at the world through the best eyes possible . Thanks so much for sharing!
Beautiful. Thanks for including me in your mailing list.