No Yale, No Vassar, No grandkids

When it was first suggested that we test our son for Fragile X, my first thought was, "Do you really think he has big ears?" It was a small, silly thought, but it captured my perspective at the time, which was that I just didn't think my kid was that special. But he is.

When I got the call from our geneticist, it was a lot like all the cliche stories you read about something awful happening to someone. Everything stopped. I don't remember what the doctor and I discussed, except for that one fact. I got off the phone as quickly as I could, because I don't like to blubber in front of strangers or bosses or random acquaintances. (But it does happen sometimes, and since getting this diagnosis, it has happened a lot more.) I put on a video for my son, who I think had never seen me cry before. And then I just sat down and cried until my husband came home from work, about 30 minutes later, though it felt like an eternity.

The next few months were kind of a blur. We did what had to be done. We told our families and close friends. We kept going to work. We tried to act okay. We saved our blubbering for our meetings with a therapist who specializes in talking to parents of kids with special needs.

We are slowly, slowly, slowly coming back to something like normal, but this new normal will never be like our old normal. No professional has ever said that our son can't go to Vassar or have kids. But unless a cure is found - and that is a distinct possibility in our son's lifetime - the best case scenario involves some type of supported living situation and supported employment. Occasionally we read articles in which this scenario is painted rather rosily, but come on now. Even if you don't expect Yale or grandkids, no parent of a young child is thinking, "Gee! Someday maybe my kid can have a below-minimum-wage job and live in a group home!"

There are other rotten aspects to this particular diagnosis. Since it's genetic, and I'm a carrier of it with a relatively high repeat number, there's approximately a 50% chance that any future kids will have Fragile X Syndrome, too. And the decision has to be made fast, because I'm at risk for experiencing early menopause. There's also the issue that my father, a carrier too, is at risk of developing a tremor and dementia disorder, and just the general fact that he feels sad about having unknowingly passed this on. All of this in one phone call. Welcome to Fragile X.