Friday, June 18, 2010

Learning Puzzles


I am very happy that John is starting to accomplish another big goal in his speech. One thing that they wanted him to start to do is to identify objects. For example, when you show him two things like a "pig" and a "cow" he should be able to pick out which one you ask for. We are working on this almost every day. I bought some refrigerator magnets that are common objects and animals and I hold two of them up and ask him to pick out a certain one. Most of the time he gets it correct and then he goes and puts it on the refrigerator. Also, another big accomplishment is that John is learning how to do puzzles. I would say 80% of the time he puts the "circle, square, rectangle, oval and triangle" in the right spot on the puzzle. He doesn't always get it in because he can't always turn it to match it up and still needs help with this. He also is learning to match his animal puzzle and the past two nights he puts every animal where it should go and then we have a transportation puzzle that he is working on, but this one is a little bit harder.

Tuesday, June 15, 2010

Creatine Transporter Deficiency

If anyone is looking for more information or to connect with another parent with Creatine Transporter Deficiency, I received an email from a mother of a child in Germany that would like to be in contact with other parents with this disorder. Here is a link to her blog: http://slc6a8.blogspot.com/

Monday, June 14, 2010

6-14-2010 Update on John

Dr. Sarah Young is doing a presentation on John at Sherbrooke University in Quebec. They asked me to give them an update on how John is doing in PT, OT and Speech. I just thought I would post what I wrote back to them as a reference for later in case I need it. Probably the biggest accomplishment is that John is now able to drink from a straw which shows great improvement and potential for speech!

His development is going great!! The physical therapist actually quit seeing him at the end of November 2009. She then came once in Dec just to check on him and once again in Jan & Feb, but then after that she stopped totally. Once the physical therapist got him walking really well and even saw the beginnings of him running, she said the rest would just come to him in time and there really wasn’t much she could do. At that point I think the only physical skill that he was behind on for his age was walking up & down stairs, but she said that she really felt like he was going to do this just fine in a little bit of time. She told me that if I ever felt like John was lacking in a physical skill compared to his peers that I could call her and she would come check him out. John just turned 2 and he is running, climbing up stairs only holding one of my hands and he loves to hang from things like a bar at the park, which shows that physically his strength has really improved. He climbs up the ladder at the park to the slide without any problems. If I had to say that John was maybe behind in one area physically I would say that the only difference I can see compared to his peers is that he doesn’t know how to jump. However, I’ve been told that this can be a very hard skill and that some “normal” kids don’t do this until they are 3 years old. I was worried that he might have problems with balance, but the last time we took him out on the boat, he got his “sea legs” under him just fine and didn’t have a problem standing up while the boat was rocking. Also, I just put him in a gymnastics class and he can walk right down the balance beam, holding both of my hands and only getting minimal assistance. He runs and plays like any other toddler and you wouldn’t know the difference between him and his peers. Oh, and he even loves to dance, he moves his arms and his body to music.

He is getting OT twice a month right now. The OT is monitoring his hand strength. When we look at a chart to see how he is doing compared to his peers, it looks like on average he is only 2-3 months behind where he should be. He has gotten great at pointing with his index finger, which was a big skill for him to learn! He can use crayons. We are working on him learning how to unscrew things and he can turn his wrist and does it, but he just does it back & forth without letting go, so he isn’t able to really unscrew something by himself, but only because he doesn’t understand that you have to let go and do it again – if that makes sense. He has a “busy box” mastered – the toy where you have to turn a knob, push a button, slide another one, etc and things pop up. He can turn light switches on & off. He can turn pages of a book. He is working on a shape sorter and he can put the shapes in the right spot if you point to which one it goes in. And the OT said this falls more into his “Eye & Hand” coordination that he is lacking. He plays with play dough and is working on pressing on it. He does it very well, but this is where she can see that he might be lacking a little bit of strength still in his hands because he doesn’t do it as hard as one of his peers might. Another skill that he is supposed to have right now that he doesn’t is that he should be able to thread a bead through a string.

He started getting speech therapy once a week at the end of Feb. He has done really well. This is definitely the area that he is lacking in the most compared to his peers. If I had to guess I would say that as far as the comprehensive part of language he is a 2 years old, but has more of a vocabulary of a 1 ½ year old, which isn’t bad, but he is still about 6 months behind his peers. He understands a lot of what we are saying to him now, but doesn’t have any real words yet, except for “mamamamama.” He is definitely communicating with us though in his own way, which the speech therapist said is a major part of speaking, so I’m not really worried that he won’t talk, but I think it is just going to come closer to when he is 3 years old. He knows to point to things that he wants, he will grab your hand and drag you over to something, he will put your hand on something that he wants you to open. He can also give the sign for thirsty and hungry. Now that he is able to point, he is doing a lot more pointing to things and wanting you to label them. He has learned a lot of the parts of the body – “eyes, nose, fingers, toes, etc.” but only likes to point to most of them on you and doesn’t understand where his eyes are yet. One good example of him knowing what we are saying is that the other day he was pointing to my husband and my husband would clap, then he would point to me and I would clap and then I would point to John and say “it’s John’s turn” and then he would clap. As far as verbal sounds from him, he makes a lot of them, like “mamamama, babababa” he says his “A” sound a lot and we are even hearing the “G” sometimes now. We still haven’t heard him say “dadada” yet and my husband is dying for that day to come and says it to him all the time in hopes that he will say it back. John also does a lot of screaming lately, which is hard to discipline him for that because I don’t want to discourage him from making noises, but it is very loud and very high pitched!! He has just recently learned how to blow and makes that noise a lot. He can blow bubbles in a cup and by doing this he also eventually learned just last week how to drink from a straw. The speech therapist could probably give you more specifics if you are looking for them as far as his verbal language goes and where she thinks he is at. I haven’t really asked her about that recently because I continue to see new things from him all the time. One more thing I thought about with his speech that he is doing is he is able to shake his head “no” when you ask him a question and it seems like lately when he wants to say “yeah” we hear the beginnings of “eah.” And when he points to something he always makes a noise like he is trying to say something.

Friday, June 11, 2010

The negative side to being one of the first few families with GAMT

I try to always write about the postive side to John's diagnosis on here because I guess it is a lot harder to talk about the things that worry me. Sometimes it can be hard being one of the first few families to have this GAMT diagnosis. I am constantly questioning what the doctors recommend and not because I don't like them or trust them, but I think it just comes with being a parent that you want to make sure you are doing everything you can to make sure your child is protected in every way possible. John's creatine supplement can be harmful to his kidneys if he is given too much of it, but just how much is too much? The doctors are monitoring his kidneys every couple of months, but with no data to look at it is hard to know how in the long term (over the course of his life) it is going to effect his kidneys. And the same with his ornithine supplement... how will this harm John in the future, if at all? They recently sent us to have his eyes examined because of the ornithine and a possible risk to the retina detaching from the eye. And what about the sodium benzoate? Will John have any negative side effects from taking these supplements for the rest of his life? Also the lowest we can get his Guanidinoacetate level in his body is a 3.8 and that is still higher than the high end of a "normal range." Will this over time cause some damage to his brain? No one knows because they've never had a child treated from his age that is now an adult to look at as an example. So John is an example, someone that they will learn from, which is hard to even think about it that way because you want to have someone tell you that everything is going to go just like this and John is going to be fine. I am lucky to be in contact with three other families that all have children with GAMT. We have learned a lot from each other. I think it is helping the doctors and nutrionist too because I am able to go back to them with questions that I have after talking to the other parents and learning how their doctors are treating their children. And we aren't all on the same page, for example two out of the four families are giving their children the sodium benzoate and the other two are not, so this leads me to wonder ... what is really best and does anyone really know?

John is on a low protein diet and the amino acid that his body cannot convert is arginine which in turn builds up the guanidinoacetate in his body that causes brain damage. Ok, so you think of low protein foods and you think of fruits and vegetables. Well, did you know that watermelon (a low protein fruit) is a food that John shouldn't eat. Watermelon contains an amino acid called citrulline, which is a precursor for the synthesis of arginine. Something that I only found out because my mom did research on the internet, not because I was told not to feed this to John. So you can see how this makes me worried, I can't help but wonder is there anything else out there that is a "tricky" food like this one that we just don't know about.

It is a constant balancing act that at times can be hard to manage. John is supposed to be on a low protein diet, but recently his protein levels have dropped below the chart of normal, so he isn't getting enough protein. But then the problem is that John won't eat enough of the low protein foods to get up to the grams that they wanted him to eat in a day, not to mention the low protein foods are horrible tasting. And now we are starting to struggle with getting John to drink all of his amino acid formula in a day and to take all of his medicines.

I know I shouldn't complain because John is doing awesome and it has been such a blessing to see him running and playing like a two year old should, but I just didn't want everyone to think that it is all rainbows all the time. I am constantly talking to the other moms comparing notes, we are taking his blood and urine about every three months to monitor everything, but it is just still the fear of the unknown that can be haunting sometimes. I know he is doing great in the short term, but how will all of this medication effect John in the long run???

Another rare disorder

I was reading my parents magazine today and I always find it interesting to hear about other rare disorders that may go undiagnosed. Today they had a little bit of information about the CURED Foundation (Campaign Urging Research for Eosinophilic Disease). This is something that I've never heard of before and it can have a variety of symptoms. Just like our GAMT kids, these children have to drink an amino-acid based formula to stay healthy. Check it out at http://www.curedfoundation.org/aboutee.html