Tuesday, January 25, 2011

Another Child with GAMT makes GREAT progress!!

I know Celia's parents are so very proud of her!!! And I can't help but be just as proud and want to brag on her! I am so excited for them and for her! For anyone that catches this diagnosis early, this should give you some great hope. Celia was diagnosed at 14 months old and is 27 months old in this video, so she has been on treatment for a little more than a year in this video. Go Celia!!!

Creatine Deficiency Support Group

Dr. Joseph Clark has started a group on facebook called Creatine Deficiency Support Group. I think there are a few people that follow my blog that have some children with the Creatine Transporter and/or AGAT and this new group on facebook is for everyone with Creatine Deficiency and also for anyone looking for answers to an undiagnosed disorder, this may give you some more information. Here is a link to the group: http://www.facebook.com/home.php?sk=group_127389967322193&ref=ts

Friday, January 21, 2011


My mother-in-law Sylvia showed me a website that has been very helpful in getting John to make more letter sounds. It is called www.starfall.com. We click on the ABCs and then John points to which letter he wants to watch. He will repeat some of the sounds like the "S", "P", "O", "F" etc.

This morning when John came running into my room I thought I heard him saying "T, T, T ooon." We usually wake up in the mornings by watching a little bit of cartoons and I always ask him if he wants me to turn on "toons" for him, so I think this morning he was trying to say it to me as I lay there half asleep in bed. He also now says "Ph, Ph" for please.