Undiagnosed

Cary just had lunch with a friend whose child at the Children’s Center has an undiagnosed syndrome. As we talked about their lunch, Cary and I agreed about how difficult it would be to have a child who was undiagnosed, and tha we felt very lucky to know (more of less) what we were dealing with.

The next day, Errol went to visit our wonderful geneticist who originally diagnosed him with Rubinstein Taybi Syndrome. After the examination and tests, the doctor told Cary that she has revised her diagnosis and that she believes that Errol does not have Rubinstein-Taybi Syndrome (and I just learned how to spell it).

Our first reaction was disbelief, distress, and disappointment. To me, the only thing worse than a bad diagnosis (most of the time), is no diagnosis, which is what Errol has. Errol’s identity, our expectations (albeit diminished) vanished. We suddenly felt adrift and discombobulated. I felt like I had been punched in the chest.

That was the first ten minutes. Later, my mood lightened. After all, Errol is not an abstract diagnosis, he is a sweet boy with a serious heart defect, wacky kidney troubles, and a whole host of cognitive and physical developmental disabilities. Nothing about Errol, and how we treat him, has changed.

That’s not to say that we feel happy. The few expectations, the parameters of his life, we clutched at are gone. We knew the percentage of RTS kids who talk, walk, the stories of what they are able to do as adults. We had met RTS kids. All this research does little to inform us of Errol’s possibilities.

But we do know this: Errol has an unnamed genetic syndrome, that is chromosomal, and structural (in other words, the architecture of his brain is formed and can not be “fixed”). And the really good news is that his syndrome is not degenerative, in other words, he is going to grow and get better. To put a really good gloss on it, there are now no limits (good or bad) on what Errol may become (the bar could raise, or it could lower). Which is all the more reason to focus on him, on the moment, and forget the future (easier said than done). We can use therapy to maximize his potential, we just won’t know how far it can take him (but who does).

The bottom line is this; we still have the same son who we love so very, very much (and more each day). His doctors have always treated his symptoms not his syndrome, and we have always loved him, not his identity. We will treat him no differently; emotionally, physically, cognitively, it’s just that we have lost our footing for now. Maybe we will get a diagnosis one day, maybe we will live enough in the moment that we won’t care. Right now, my head is full of possibilities (not all good) and all I can do is hope for the best.