New Diagnosis

Last week we spent the week on vacation in the beautiful Smokey Mountains. We stayed a resort in Gatlinburg, TN, in a gorgeous location. We went to the aquarium which Joshua loved, we went to a little zoo and traveled all over the area seeing the sights, it was wonderful and we can't wait to go back next year. Here's a link to our vacation album http://www.facebook.com/album.php?aid=554850&id=595845092&l=b025dcecdf.

It had been a few weeks since we had seen the geneticist and gotten ourselves tested for myotonic dystrophy and we were still waiting on the results from that and from Joshua's other tests. While we were on vacation the results came in and I had two messages waiting for me from the genetic counselor. I called her back on Friday and left her a message but I found out this morning she was in a conference on Friday so I was left wondering all weekend what the results were, not fun.

This morning I called and left her another message, this time she called me back. Apparently my husband tested negative for myotonic dystrophy or I should say that his numbers were too low for him to test positive. I, on the other hand, tested positive just barely high enough to be considered positive yet I've had no symptoms of the disorder and I pray I never will.

The bigger news was that I was probably right that it was not the myotonic dystrophy causing Joshua's delays. Joshua's other genetic test came back positive for something else, MECP2 Duplication Syndrome. I don't know a lot about it, I have chosen at this time not to research it like crazy and scare myself with all the possibilities (the genetic counselor warned me that most of the information about it is negative). What I do know is that it is a x-linked neurodevelopmental disorder. Joshua only tested positive on one of the two genes that this disorder is linked to and that's good. Something else that's good is that 75% of kids have recurrent infections from birth and Joshua has not, 50% have seizures and Joshua doesn't. She said that his case is not textbook and that is good. She said he will still show us what he can do, it's a variable disorder. I'm not going to let this define him. If you want to look it up take the information with a grain of salt (that's what she told me to do).