Through this blog, internet searches and our health practitioners I've come across five more families dealing with creatine transporter deficiency. My objective is to allow other readers dealing with something similar to gain an understanding of what lies ahead and not to infringe on people's privacy. They live all over the world, from Australia to Germany to the USA and to Canada!
-An 11 month old boy diagnosed just a few weeks ago and the youngest case I have come across.
-A 2 3/4 year old boy diagnosed in May.
-A 3 1/2 year old boy diagnosed at age 3. Began taking the CTD cocktail (arginine, glycine, creatine) in January 2009 and an improvement in language and developmental skills was noted. Yay!
-A 4 1/2 year old boy
-A 9 year old boy
I've also come across two families dealing with GAMT, one of whom has a 2 year-old boy and the other family has 2 children affected, a boy and a girl.
Anyone else?
In the coming weeks I hope to post links to research papers and articles of interest. If you come across anything you'd like me to post, please email me at crtr.boy@gmail.com
Wednesday, July 21, 2010
Wednesday, July 14, 2010
We're in!
After being on the wait list for 11 months, we are FINALLY going to get a physical assessment next week from the kids' rehabilitation hospital in my city. This means that he'll get services (free to us) at an amazing facility and hopefully we'll see more progress in the gross and fine motor skills department.
At his one-year check up last September, our pediatrician referred him for the assessment. At the time we thought he was just a little delayed but she used "special needs" as a way of describing him which sent us over the edge. She couldn't have known about the creatine transporter deficiency at that time nor could she have predicted that he wouldn't be walking or talking at 22 months. I guess her experience and expertise told her that this was a child who would need extra help.
She is an amazing pediatrician and we are so lucky and fortunate to have her caring for our boy. Had we waited until the CTD diagnosis to get him on the waiting list, I would not be seeing anyone until winter 2011. Still, I really can't help wishing that he didn't have CTD.
Wouldn't it be lovely to wake up in a world where our kids were typically developing? I would give anything to have him say "woof" when I pointed to a picture of a dog. I would absolutely give my heart and soul to hear him say "mama" or "dada" but I need to work on becoming more patient and enjoy today rather than worry about tomorrow.
At his one-year check up last September, our pediatrician referred him for the assessment. At the time we thought he was just a little delayed but she used "special needs" as a way of describing him which sent us over the edge. She couldn't have known about the creatine transporter deficiency at that time nor could she have predicted that he wouldn't be walking or talking at 22 months. I guess her experience and expertise told her that this was a child who would need extra help.
She is an amazing pediatrician and we are so lucky and fortunate to have her caring for our boy. Had we waited until the CTD diagnosis to get him on the waiting list, I would not be seeing anyone until winter 2011. Still, I really can't help wishing that he didn't have CTD.
Wouldn't it be lovely to wake up in a world where our kids were typically developing? I would give anything to have him say "woof" when I pointed to a picture of a dog. I would absolutely give my heart and soul to hear him say "mama" or "dada" but I need to work on becoming more patient and enjoy today rather than worry about tomorrow.
Tuesday, July 13, 2010
Progress?
We had a physio appointment today with the most cantankerous woman I have ever met. It was our 4th visit and the only reason we keep seeing her is because a)she's free b)she comes to the house and c)the agency doesn't have another available physio. She's really negative and directly implies that the reason my son isn't walking is because I coddle him and let him play with toys on the floor. Like I need a guilt trip on top of everything else! I do a perfectly good job of feeling guilty for everything all on my own thankyouverymuch.
Anyway, she asked how my son was doing and I told her that it feels like he's plateaued and that we hadn't noticed much improvement over the past couple of weeks. She did her exercises with him and, shock of all shocks, proclaimed that he had made huge progress! I couldn't believe my ears, or my eyes for that matter, because my son was initiating stepping! I don't know what surprised me more, my son willingly stepping or the physio saying something positive for once. It was a day of firsts!
He still has a long way to go but if I stabilize one leg, he will step with the opposite one which is so huge for the little guy. Not long ago I couldn't even get him to bear weight on his feet so I'm thrilled with the progress. I've been so engrossed in the widening developmental gap between him and his twin that I didn't even see what was right in front of me. I think it's time for me to take a step back and appreciate all the wonderful things that he can do instead of what he can't.
Anyway, she asked how my son was doing and I told her that it feels like he's plateaued and that we hadn't noticed much improvement over the past couple of weeks. She did her exercises with him and, shock of all shocks, proclaimed that he had made huge progress! I couldn't believe my ears, or my eyes for that matter, because my son was initiating stepping! I don't know what surprised me more, my son willingly stepping or the physio saying something positive for once. It was a day of firsts!
He still has a long way to go but if I stabilize one leg, he will step with the opposite one which is so huge for the little guy. Not long ago I couldn't even get him to bear weight on his feet so I'm thrilled with the progress. I've been so engrossed in the widening developmental gap between him and his twin that I didn't even see what was right in front of me. I think it's time for me to take a step back and appreciate all the wonderful things that he can do instead of what he can't.
Thursday, July 1, 2010
MacAthur-Bates
Is anyone familiar with the MacArthur-Bates CDI Words and Gestures booklet?
The booklet contains a mountain of questions around the understanding of language and the imitation of words. It asks whether your child can understand things like "are you hungry?" "come here" don't touch" and my personal favourite: "time to go night night". It also goes through a vocabulary checklist and you're meant to indicate whether your child understands a particular word or if he understands & can say the word. Same for pronouns, prepositions, quantifiers etc.. Our son is meant to repeat this test in 6 months to monitor any improvement. It will be interesting to see if the supplements help boost his score.
Our developmental pediatrician asked us to complete it about two months ago but we haven't done anything with it yet. Every time I open it, I feel anxious and a little nauseous so I close it and ignore it for another little while. I guess, in a sense, we don't need to complete it because out of all the items listed (at least 150)we can't check off a single one! Still, he does understand some things that just don't happen to be in that godforsaken booklet. I'm pretty sure he understands "snack" "drink your milk" "blueberries" "no" and "up".
According to MacArthur-Bates, "before children begin to speak, they show signs of understanding language by responding to familiar words and phrases". Looks like we have a long road ahead of us but my sleeves are rolled up and I'm ready to give it my all.
The booklet contains a mountain of questions around the understanding of language and the imitation of words. It asks whether your child can understand things like "are you hungry?" "come here" don't touch" and my personal favourite: "time to go night night". It also goes through a vocabulary checklist and you're meant to indicate whether your child understands a particular word or if he understands & can say the word. Same for pronouns, prepositions, quantifiers etc.. Our son is meant to repeat this test in 6 months to monitor any improvement. It will be interesting to see if the supplements help boost his score.
Our developmental pediatrician asked us to complete it about two months ago but we haven't done anything with it yet. Every time I open it, I feel anxious and a little nauseous so I close it and ignore it for another little while. I guess, in a sense, we don't need to complete it because out of all the items listed (at least 150)we can't check off a single one! Still, he does understand some things that just don't happen to be in that godforsaken booklet. I'm pretty sure he understands "snack" "drink your milk" "blueberries" "no" and "up".
According to MacArthur-Bates, "before children begin to speak, they show signs of understanding language by responding to familiar words and phrases". Looks like we have a long road ahead of us but my sleeves are rolled up and I'm ready to give it my all.