The first week of low protein dieting taught me that twenty grams of protein is a very small amount compared to what most people (even five year olds) eat, unless they are vegan and then it's very difficult to hit twenty. So, based on the nutritionist's instructions we are now mixing in a little dairy to get up to the twenty mark a little easier. The tiniest little slice of cheese (measured to the tenth of a gram) is four grams of protein. A Kraft single is three. So, we have found a happy medium for now. The inner science geek in me is still struggling with the knowledge that the arginine in animal sources is higher than, say rice, but I just can't shove enough low-arginine food into her to get her up to twenty grams. There is a medical grade "food" which I believe is another powder to mix into a sugary/yummy drink that has a lot of protein, fat and calories but none of the protein is from arginine and the nutritionist is sending us samples to see if Samantha will take it. If she does, there will be less of a balancing act to avoid arginine, but consume enough protein. I secretly want to start a website and figure all this out, including meal plans, recipes, etc., so that the next family diagnosed with this will have a resource to start with. There is literally NO support group for this.
Anyways, we are adjusting and finding ways that she can actually eat like a pretty normal kid. McDonald's is a cheeseburger minus the burger (5 grams), twenty fries (2 grams) and a yogurt parfait (her absolute favorite food in the world- 4 grams). And it's actually nice to get 11 grams "under her belt" by going there.
The geneticist came in to the meeting this week and mentioned that it will take a whole month to get the guanidino acetate levels down to about 50% which is the level at which her brain will be able to start really firing up and making better progress (the creatine should already be a lot higher), so I have that in the back of my head, giving me patience for now.
Despite the fact that she's not "fired up" yet, we have seen some real improvements since starting the diet and supplementing. On Saturday, day two of supplements and four of dieting, she had a seizure in the morning and we haven't seen one since (over one week ago). I am really happily surprised. She had done a little better on the seizure meds, but was still having a dozen or so a day and they just suddenly stopped. The second really definite change is that she had regressed a lot in her potty training for two weeks prior to the diet and that has pretty much completely resolved itself.
There are other little things that I'm less sure of (we've been through so many "experiments", constantly LOOKING for positive change, that now I'm a lot more reserved in my judgment), but those two things alone are very encouraging.
8 comments:
Hi,
I have a 2 years old son that the Dr suspect that he has creatine defeciency problem GMAT. My son never has seizure. At what age Samantha stars having seizure. Does she speak now?
Thanks a lot,
Joseph
Hi. She is five and started having seizures when she was four. They are so short and are not convulsive, so we didn't realize they were seizures for several months. She definitely was not having seizures when she was two. She just started the creatine and protein restriction diet two weeks ago, so she is not speaking yet. We hope she will, but of course noone can predict how she will do. She has improved already in several ways, so we know it is making a difference.
Have they done any blood or urine tests on your son? Those tests are more affordable than the actual DNA testing and are very reliable. They would be testing for creatine levels in his blood (they would be low) and guanidinoacetate levels in his urine (those would be high). There are other types of creatine deficiency disorders where the creatine in the blood is low, but if the guanidinoacetate levels are high in the urine then it is VERY VERY likely that it is GAMT. If he is diagnosed with GAMT I would love to keep in touch with you.
Heidi
This is so great to hear. I'm so glad that all of your hard work has most likely found an answer. You constantly amaze me.
Heidi,
Hi,
Sorry I did not reply sooner. I waited for the urine test result for GAMT but no result yet.
I did make a lot of research regarding hypotonic and development delay which involve language development etc.
My wife and I noticed that Elliot, my third child, has development delay in walking and other motor movements. We compare his development to his older brother and sister and it was a big different. When he was 3 months old we told the pediatrician about it but he said that “every child is different” he mentioned that Elliot has a low muscle tone and we should not be worry about it. When he was 1 years old and hardly sit by himself he referred us to development delay program in NJ. I was too naïve to think that low muscle tone will go away by himself. I was not aware the low muscle tone is to do with the brain nerve system. Elliot started OT and PT and is walking was improved but he did not speak. When Elliot was 19 month we moved to Atlanta, GA from NJ and we went to a new pediatrician that immediately recommended a Neurological Dr. and Genetic Dr. I also started doing research on hypotonic and development delay on the web and figure out that hypotonic is not a disease but a symptom of most likely brain disorder. Further more, hypotonic and development delay may point on a mental retardation disability.
Elliot is 27 months already and knows how to repeat PAPA, MAMA, NANA and YES. He hardly uses these words but if I show him banana and asking what is this he will say NANA. He understands what we are telling him and he follow some commands. He also knows how to identify animals, fruits and other items from pictures by pointing on them. He loves to play education games for example game that asks you to press different shapes and colors. He is playing very well.
He has difficulty to express words like if I say can you say cat he will say yes and then he will say aat instead of cat. (nana instead of banana etc.) When he wants you to play with him or read him a book he will take a book from a shelf and give it to you and he say THISSSS. Also he still has low muscle tone causes him to look clumsy when he walks. He has OT, PT and ST every week.
Elliot had number of genetics tests like the micro array test and others all were negative. He also has an MRI with a normal result. The Neurological Dr think he has Hypotonic Cerebral Palsy (Hypotonic CP) however, MRI shows nothing. Since his problem is Hypotonic and speech I think it may be one of these genetic syndromes like creatine deficiency etc.
I am afraid he will never speak and may need to go to special education school. The medical tests in GA are taking a long time and you can get an appointment with Neurological Dr once in tree months.
One think I learn from all this is not to trust Dr but yourself. The pediatrician in NJ was horrible!! He never explained what low muscle tone means and he always calm us down. I lost critical time because of him and now I need to run from one test to another.
I have some questions as follow:
1. Is Samantha ever say words like MAMA, PAPA, NANA etc.
2. Does she point on the right picture when ask where is this and where is that.
3. When I look at the video with Samantha I figure that she does not have difficulty to walk and she walks normal. Did she have low muscle tone and if yes for how long.
Thanks a lot,
Joseph
Joseph:
I know every child is different but I have to say that 27 months is very young and that your son is doing more than Samantha was at that age as far as speech. If he is diagnosed with GAMT he will be a very lucky boy to have his metabolic system corrected at such a young age. I would have no doubt that his speech would be great if that is his diagnosis and he is doing so well already with speech. Samantha can say mama, dada, more, and other simple words. Mostly her words are single syllables, like "ball" is just "ba". She is progressing everyday and I would say the thing that has improved the quickest so far is her motor skills and social attentiveness and interest. The geneticist said that she is very lucky to have as good of muscle tone as she has, but she was late to walk (18 months) and crawl (12 months) and I always knew she wasn't as strong as she should be.
Yes, she can point to the right pictures when asked to. I know her receptive language is much much better than her expressive language.
Did your MRI include a spectroscopy to look at different levels of chemicals in Elliot's brain? If so, was there an indication that his creatine was low?
Every case of GAMT I have heard of is different, so I don't think any differences between Samantha and Elliot necessarily mean that he does not have GAMT.
It is great that you had a pediatrician who was quick to refer you out. We have always had to push to get any testing. It is also great that Elliot is not your oldest, but that you have seen other children develop normally and can pick up on Elliot's needs at such a young age. You sound like an amazing father. I am hoping you find an answer soon!
Heidi
First I am very happy that Samantha diagnostic process is successfully completed and that there is a treatable for her syndrome. I believe she will do great!!
The Neurological Dr did not perform spectroscopy. I am very upset with him. I will meet him in 04/13 and will demand to do it as soon as possible. I actually need to tell the Dr what to do. I am not sure if Elliot has GAMT or even if he has creatine deficiency but the Genetic Dr. suspect that he has GAMT. Until now we did not have test result. The first test was lost the other was wrong and there is no result for the current test. The best way to check if creatine is not in brain is to perform spectroscopy.
Samantha could be easily diagnostic (years ago) if her pediatrician sent her to Neurological Dr, Genetic pediatrician or if he preformed a simple urine test. Samantha had low muscle tone which is usually the first sign of brain disorder. I am wondering what her pediatrician would do if his child went through what Samantha went. Would he wait until his child has seizures? If I were you I will talk to lawyer to see if this is a medical neglecting.
Thanks Joseph
Just an update,
Eliot urine tests for GAMT and for CRTR comes negative. Spectroscopy was not performed since urine test for creatine deficiency syndrome was negative.
I hope Samantha is doing well.
Joseph
Joseph- I hope you find answers for Eliot soon. I know you will not stop until you do and I respect you for that.
Heidi
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