My second child has a genetic disease called familial dysautonomia. FD is a progressive neurogenetic disorder in which the autonomic and sensory nervous systems malfunction. Symptoms vary and may include insensitivity to pain, unstable blood pressure and body temperature, absence of overflow tears, frequent pneumonia and poor growth. FD is often associated with a shortened life span. People with FD suffer from episodes of cyclical vomiting, accompanied by extremely high blood pressure and increased heart rate, sweating and fever. These “autonomic crises” are among the most devastating symptoms of this disease, often requiring hospitalization.
Ben is our second child, 16 months younger than his older brother. I am Jewish and was screened for diseases that people of Eastern European descent carry, which at the time — 17 years ago — was only Tay-Sachs. I was going to be 35 when I gave birth, so I also had amniocentesis. This led me to believe that my child would be fine. Since our first child was typical, it was obvious to us right away that something was wrong with our second child.
He was unable to breast-feed, took forever to drink a bottle, seemed to have a lot of reflux and projectile vomiting. At 6 months, I took him to the emergency room because I thought he sounded horribly “junky” in his breathing. It was during that hospital admission that it was discovered that he was aspirating when he drank a bottle. They gave him a nasogastric tube, followed a few months later by a gastrostomy tube (because the aspiration had not resolved). After visits to many specialists, the mystery of what ailed him was discovered when Ben was 1 year old. As awful as it was to get a diagnosis, it was comforting to know what was wrong and have a medical team to guide you along the way. And fortunately, one of the characteristics of people with FD is a sunny disposition when they are feeling well. Ben is blessed with this disposition, which is an asset to our family — we get to skip the sullen teenage years with him.
This background sets the stage for raising this child. We did everything we were supposed to do: early intervention, first in our house, then in special preschool. Our son had speech therapy, physical therapy, occupational therapy, Individual Education Plans, special ed and regular ed. Ben always seemed to be just a little behind, and we worked hard to keep him as “typical” as possible. As his peers and siblings aged, the gap became more pronounced. His limitations became more obvious. We came to accept that Ben was probably not college-bound; that he may not get a high school diploma, but probably a certificate. In either case, we would help him get a job where he can be productive and happy.
As he’s aged, Ben’s balance and gait have gotten worse, which is common with FD. His stamina is not great, and it is difficult for him to walk long distances. A few summers ago, we used a wheelchair for the first time. We were in Boston on a family vacation, and Ben had had one of his crises (a constellation of symptoms, including a very high heart rate, nausea and uncontrollable retching) that required heavy medication to put him to sleep so his body could reset. He was so lethargic, he required a wheelchair at the aquarium so we and our other three children would not be stuck in the hotel room for the day. Ben was thrilled, and the other kids thought it was novel. My husband and I exchanged a meaningful glance. This was a huge milestone for us as parents of this disabled child. It was a very public admission that he is fragile and weak and will continue to be so. Our family had to adapt to an ever-changing reality. It made us very sad, but it salvaged the day.
We decided to buy Ben his own wheelchair a few months later. Annual visits to New York City to see his specialists, which we often combine with a family trip to see the sights, led us to get the chair to avoid dragging him on an unrelenting march across Manhattan, sometimes in 90-degree heat or frigid cold.
It occurred to me as we pushed Ben in a Smithsonian museum one day that there was another, less practical reason that the wheelchair was a good thing for him. He seemed so much more engaged in the environment as he comfortably sat in the wheelchair, instead of dragging around, squatting every few steps to rest. And because it was more pleasant for him, it was more pleasant for us.
A person can learn to accept a lot as time goes on. You learn to tolerate the stares of others wondering what’s wrong with your child and the curious questions about your son’s feeding tube. Ben’s siblings take it all in stride. I suppose they follow our lead, as we have always tried to be as normal a family as possible. We had two more children after Ben, so that he would be part of a pack. His siblings, our family’s circle of friends, his theater group and other structured social communities are his friends and his support system.
There have also been unanticipated and not always unpleasant consequences of having our son use a wheelchair. The book “Charlie and the Chocolate Factory” comes to mind for me, as I think of the wheelchair as sort of a golden ticket. It allows us to cut lines — for example, at the airport or the time we went to Disney World. It often evokes the kindness of strangers. As a parent, I am a work in progress, alongside my children. I have come to accept always being prepared for Plan B, trying to find the positive instead of wallowing in the negative. I have to be flexible and open-minded, and consider what’s best for my child and our whole family. I’m still looking for that parenting guide … maybe I could write a chapter or two.