Monday, August 25, 2008

12p13.1 Chromosone Deletion

Finally, this is Ty Ty's diagnosis. All of the waiting was worth it. Most people ask what this means... Well, its all the same things we are doing for Ty ty. Hopefully he will get ECHO soon from Tricare which can give him some more therapy. He will also have a EKG and ultrasound of his kidneys. This is just a check up.

They have put Ty Ty into a national database and this could either put us into contact with other patients that have this and will help in the study of this deletion. It is a rare deletion and therefore is not named. But, I have since found out there are other children with deletions or duplications on different genes that are similar in fashion. They seem to be developmentally delayed and also affect the brain/muscle connection. Thankfully the segment Ty Ty has is small because the bigger the deletion the more they are affected.

Speech Delays are the biggest concern, but really everyday Ty Ty makes progress. I think what happens is that he progresses in one area (occupational, behavioral, gross motor,speech, etc) but then not in the others. He really is making so much progress though.

We will continue to focus on what Ty Ty needs now and know that the future is just that - the future. I think that of all my kiddos though. One step, one day at a time. I am so relieved that I can do this now. I used to worry myself over silly future stuff before.

good quote to share-- What do you need to do, to go from good to great????

Post it where you can see it. Make baby steps and it can happen.

1 comment:

paulawy said...

Finally an answer! I hope this helps you connect with other parents - it's nice to know people who get what you're dealing with! Miss you!