No Boundaries

Jealous isn’t the right word; neither is envy–because no one should feel jealous or envious of people affected by rare genetic diseases. But I’ve always felt a longing for the kind of community that some of my friends in this rare genetic disease world have. Even people with rare diseases can find others who have the same condition, to learn from them, laugh and cry with them, and feel like they know others who understand what they are going through. But our family affected by Schwartz-Jampel Syndrome has felt very alone.

This blog and some of my medical writings have led me to six –yes, 6–families with SJS over the course of many years. No family has been geographically close—until we met Annie and her 14 year old son Jack last March through cyberspace. And it turns out they live only a few streets away from my closest college friend. Our world immediately changed.

Ben and Jack, October 2013

This past weekend our two families impacted by SJS met. All week I had been asking Ben what he might want to ask Jack about. In Ben’s normal 12 year old self, he said “nothing”. Me? I wanted to know everything. What does Jack like to do? How does he move around? What has Annie done to their house to make it accessible? What do they think every day of their lives? Does Jack make jokes at medical appointments, too?

When we rang their doorbell at 3 pm last Sunday and we first saw Jack, I wanted to swoop in with a great big hug, he seemed that much like my own son. I thought of my fourth grade teacher’s remarks on my report card: “Rani lacks self-control”. I couldn’t let this be my first impression.

We met Annie, her husband, Jack, and his older sister. We saw Jack’s ultra cool wheelchair that he takes to school, and Ben got a chance to try out the walking sticks that Jack uses to get around the house. These turned out to be too difficult for Ben, but it was worth giving them a try. Charlotte immediately felt at home by bouncing on furniture (to my dismay) and playing with their dogs. Lucy and Jack’s sister stayed with us, taking it all in. It was their first meeting of SJS siblings, as well.

Before long, it became clear that Jack and Ben are two peas in a pod. They both love video games, computer programming, reading and both are studying difficult languages in middle school. Jack is perfecting Chinese; Ben is learning Latin. We even learned that Jack has the same incredible distaste for Augmentin as Ben. And boy, do they both have the wittiest, driest senses of humor. Jack said so many sincerely funny things that we were holding our sides from laughter pain. We could have talked to him for days.

Over two hours we discussed the pros and cons of side versus rear entry wheelchair vans, the benefits or not of Tegretol, Baclofen and experimental medication such as Mexiletene to deal with myotonia, Ben’s upcoming spinal rod lengthening surgery, and physicians at some of the world’s top medical facilities. We realized our families both use humor as a way of dealing with the things thrown at us each day.

It felt like we’d known each other forever. My only longing now is for the next visit. It can’t happen soon enough.