Fragile X

The doctor called.

The test results are in.

Oliver has Fragile X.

The news hit us like a ton of bricks. We knew it was a strong possibility that he would be affected, but we always held out hope that somehow we would beat the odds.

Nope.

Background: Early in my pregnancy my OB suggested I have genetic counseling because of some issues that had presented themselves. At first I resisted, then after some urging I saw an OB geneticists at the University of Utah.

To make a long story short, they determined that I was a carrier for a genetic mutation called "Fragile X". It is the number one cause of mental retardation through heredity. It affects 1/4000 males and 1/8000 females. (Please see www.fragilex.org.) My test results suggests that I had a 50/50 chance of passing this mutated gene on to my children.

Ethan and Nataleigh don't appear to be affected, but we instantly thought Jacob was. Sure enough, after a definitive blood test in February confirmed it, we learned Jacob had Fragile X.

It explains a lot. We had been worried about Jacob's development for years and suspected autism, but not all the symptoms fit. The autism specialist we saw told us Jacob was on the autism spectrum, but he classified him under a catch-all diagnosis: "PDD NOS". After researching Fragile X we finally felt that we knew what we were dealing with. Most kids with Fragile X are on the autism spectrum, but not all kids with autism have Fragile X.

By the time we learned about Fragile X I was into my pregnancy and there was nothing we could do but hope and pray that somehow this baby wouldn't be affected. To hear the news that he is...to think about raising TWO special needs children...to realize that the life we had thought we would have would be significantly different...well it's a lot to take in.

Lots of tears...

I feel a deep sadness...

And I feel pretty overwhelmed...