Tuesday, January 08, 2013

"Can people with Fragile X live a normal life?"

I like to check the statistics once in awhile, and see what searches people have been typing into Google that brought them to this blog.  Sometimes there will be really crazy search terms that I can't figure out how they could possibly be connected to my blog.  Other times, it's something so personal and profound, it makes me stop and think about what I'm doing here.  Like this one.

"Can people with Fragile X live a normal life?"

Someone recently typed that question into a search engine, and it led them to The Fragile X Files.

I assume it was someone whose diagnosis is still fresh.  Someone who is just beginning to find their way.

It sounds so, painfully, much like something I would have asked, six years ago.  Back when I was trying to figure out what the Fragile X diagnosis was going to mean for us.  Today, I don't know if I've learned the answer to this question, or if I've learned not to ask it.  I'd like to try to answer it, though, if I may, for this searcher.

I'm tempted to give a sugarcoated answer and say, "it depends on your definition of 'normal'."  But that's a bit of a cop-out.  We all know exactly what this person meant by "normal."  We know what he or she was really asking.  It's the same thing we were all afraid to ask, back after our own "D" days.*

Still.  The answer is yes, at least for some people with Fragile X.  Some people are very mildly affected.  I hear all the time about people who find out later in life that they have a full mutation, and they've been living perfectly normally.

Right now, today, though, I'd have to say for a lot of people with Fragile X - knowing what you really mean by normal - the answer is no.  I'm not going to tiptoe around it.  And I can't give you details about the kinds of normal things a person with Fragile X might or might not be able to do, because just like all people, every person with Fragile X is different.  But if I was going to go with the majority of people with the full mutation of Fragile X - and what you probably consider to be normal - the answer has to be no.

There are probably quite a few parents of kids with Fragile X, who are good friends of mine, who won't like that I said that and who would argue with me.  I don't like that I said it.  But if I'm going to be completely honest here, where we are now is a long, long way from where I imagined we'd be, once we had kids.

Now what you have to realize is, just because it isn't a "normal" life doesn't mean it isn't a good life.  Normal doesn't equal happy.  That won't alleviate the disappointment that comes with a diagnosis that rips the "normal" rug out from under you.  But little by little, day by day, you'll come to realize that "normal" isn't all it's cracked up to be, anyway.

And here is what we have to hang onto - Hope. 

Look at all the clinical research trials going on here.  We are actually very lucky.  Lucky to have a genetic disorder that is so interesting to so many brilliant scientists and physicians. 

It's not a mystery.  Researchers have pinpointed exactly what the FMRP gene does to mess up brain and nervous system development.  Right now, they are now banging on the door of effective treatments, and even a cure.  And someday, maybe soon, that door is going to open.

And then, maybe, we will all be able to answer that question with "Sure.  Everything is going to be fine."

*D stands for diagnosis.

Whoops, we left the bubbles outside in the snowstorm.  I hope they still work after they thaw out.

1 comment:

fragilemom said...

Hope...the best word and truth ever!


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