genetic screening

by

Better Late Than Never

There are many things parents teach their children—toilet-training, personal hygiene, shopping, food preparation, shoe-tying, bike-riding, and swimming to name a few. I have had the pleasure of teaching one of my children to feed himself through his gastrostomy tube.

This 17-year-old son, the second of my four children, was born with a Jewish genetic disorder called Familial Dysautonomia (http://www.familialdysautonomia.org/facts.htm). He walks, talks, and is cognitively with it, but he is medically and physically fragile. He eats some food by mouth, but gets much of his nutrition through a gastrostomy tube in his stomach.

He was diagnosed with this disease when he was 1-year-old, but he had feeding trouble from birth. A g-tube was placed at 6 months, once the doctors figured out that the formula from a bottle often went into his lungs instead of his stomach. Speech therapists encouraged us to feed him by mouth in the hopes that the tube would be temporary. As desperate young parents, we spent hours and hours feeding our son by mouth although he was often uninterested and somewhat averse. We had one other child at the time who was only 16 months older. We were discouraged but accepted the tube feedings as part of our life, at least for the short term.

While it was hard to accept this fate, it was much quicker and efficient to tube-feed him. Sure, we still had to feed him several times a day, but it only took a few minutes each time. We grew accustomed to the stares and questions from curious people. We just wanted to feed our kid and hoped that he would continue to grow and be “normal.”

Like many parenting tasks, the feedings soon turned to drudgery and felt like a chain around our necks. Every couple of hours we had to drop what we were doing and spend a few minutes feeding our son. Yes, we had to feed his siblings as well, but with them we could put the food in front of them and walk away. The feeding tube felt more like a tether as we had to stand there and pour the liquid into the syringe, connected to the tube that went into his stomach.

As he got older he could at least hold the syringe so we could dash around feeding the other kids and return frequently to pour more formula into the syringe. But that too became cumbersome. What to do? How could I make my son more independent with this task?

Perhaps divine intervention led me to find a funnel underneath a sink in a newly renovated bathroom in my home. Hmmm, what the heck was this? Some piece left over by the plumber? A light bulb went on over my head, as I could envision this funnel sitting in my son’s feeding syringe, giving him a wider opening into which he could pour the formula, given his less than optimal gross and fine motor skills. It’s not called the “mother” of invention for nothing.

He resisted the idea at first but quickly got the hang of it. Freedom, at last! And the funnel? Turns out it was meant to fill the soap dispenser that is built into the counter-top. You can imagine the reaction I got when I called Kohler to order 12 of them!

So maybe we were remiss in teaching our son some of the other self-care skills. He can’t ride a bike, but not for lack of trying. He’s safe and comfortable in the pool, but he can’t actually swim strokes—again, not for lack of lessons. Those things weren’t in the cards that God dealt him.

But he did recently reach a momentous milestone. He learned to tie his shoes. We have tried to teach him over the years without success. His frustration, and ours, was too great with the return benefit just not seeming worth it. Sure, I knew he was too old for his mom to still be tying his shoes, but somehow it just didn’t make it to the top of the “things to worry about” list. His health is always number one.

Recently I took my son along with my 11-year-old daughter who wanted to get a new pair of Converse All Star sneakers. While at the store, he decided that he would like a pair as well. Given that he rarely shows any interest in fashion I happily agreed to buy them for him. He was very pleased with his new shoes, which inspired me to raise the dreaded issue of shoe-tying. We tried the bunny ears technique first which was too cumbersome. Somehow, when I showed him exactly how I tied my shoes, it clicked and his fingers were able to do what his brain told them to!

He is super proud of his new skill as he walks around in his new Chuck Taylor’s. And as his mom, I couldn’t be happier. Better late than never.

 

by

A Case for Genetic Screening

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.