Garrett's Hypotonia Story

This is the blog about my son, Garrett. He was born in 2003 with hypotonia, but he does not have a diagnosis. His hypotonia seems to be mild to moderate.

Saturday, August 19, 2006

The Geneticist Visit

Garrett went to his yearly geneticist visit about 2 weeks ago. They've tested him for just about everything they can. Everything has been normal. At this point, the geneticist just wants to follow him to update his file. The hope is that one day he will get a dx, but I'm not holding my breath. The appointment was fairly straightforward...no new quirky things to note, and he hasn't been sick hardly at all. He didn't see the doctor for any sick visits between his second and third birthday, and I think he only had a fever once during that time period.

But then I get a phone call yesterday to call them back. I'm hoping he was able to discuss Garrett with the other geneticists and someone came up with something that might fit his symptoms. But, like I said, I'm not going to hold my breath. A dx would be great, but it doesn't seem likely. Unless something new has been found within the past year (which is entirely possible), I can't see that he will get a dx.

I'll update as soon as I am able to talk to them. Garrett also sees the cardiologist on Tuesday, so I'll give an update about that. His ped thought he heard a heart murmur, so that is the reason for the cardiologist visit. I'm not too worried about it. It seems like everyone either has a heart murmur or knows someone that does. I'm hoping if he does have a heart murmur that it's an innocent one.

Editing for an update: The geneticist called to tell me that there is a new chromosome test they could do if I wanted it. Sure, why not. I was hoping they figured something out, but no. Oh well.

Garrett went to the Cardiologist. They did an EKG, and the doctor listened to his heart. She said the EKG was slightly off and that she could hear a very faint murmur. He is going in for an ultrasound of his heart on the 28th of September to check for a heart defect. He has to have oral anethesia for that. He's always a monster when he comes out of anethesia. She assured me that even if he does have a heart defect, it is not an emergency. I'm hoping this is just an innocent murmur and nothing else. I hope we get the results from the ultrasound that day. I hate having to wait for those type of results!!