Wednesday, July 8, 2009

John's New Diagnosis - GAMT


Guanidinoacetate methyltrasferase deficiency – Say that one ten times fast!!

So it’s been a year of a lot of Ups and Downs. It’s been stressful and worrisome, BUT with that has come great joy and blessing in our life from John!! We thank God everyday that John was given to us.

Monday we spent 6 hours TALKING to doctors at Duke University. They were all very good and I was very impressed. We spoke to a geneticist, a neurologist, a dietitian, a nutritionist and a few other doctors. John tested positive for Guanidinoacetate methyltrasferase (GAMT). He does not have CP. His difficult birth and some of his symptoms (like his poor muscle tone, constipation, and even some of the ways his body moves) are similar to a type of CP that is often related to lack of oxygen during delivery, so from the start the doctors were thrown off into looking in that direction. I feel very fortunate to have found the doctor in Wilmington, Dr. Karen Harum. She was the one that ordered all of the genetic testing on John and if she had not done that we would never have found his true diagnosis. If left untreated GAMT can cause severe mental retardation, seizures, very weak muscles that cannot be fixed and autistic like characteristics.

John is the very 1st case of GAMT at Duke University. It is a VERY rare metabolic disease. So they are very interested in studying John and writing reports on him. They said John is about the 6th child to be diagnosed in the United States and there are only a few dozen cases worldwide. I hear slightly different numbers from different people. It is autosomal recessive – meaning both Wes & I have a recessive gene that we have a 25% chance of passing on to future children.

So what is John’s treatment? He has to take 2 supplements six times a day and a third supplement three times a day. Then he has to drink an amino acid formula and he is on a very restricted no/low protein diet. He will get very small amounts that I will have to keep track of and count throughout the day. He basically isn’t able to break down the protein into creatine, and these toxic levels have been building up inside of him.

The outcome for John looks very well. The two children that Duke told us about where the children were still young when diagnosed are now doing very well by using this same treatment plan. We are hoping that John is going to catch up within the next 2 years. The doctors at Duke want to do an EEG and a SPEC scan on John so we have more base tests on him so we can see how he is improving.

2 comments:

  1. Hi I just stumbled across your blog while trying to find answers about my son. Do you have an email or something I can reach you at? My son also had a difficult birth and although all this MRI's have been fine he still at almost 4 struggles with a speech delays and his neurologist recently diagnosed him with paroxysmal dyskinesia for this thing he was doing with his leg. Im not convinced that that is what it is though. He has also struggled with his weight which we were told was a milk protein allergy. I feel like I have been looking for answers for forever.

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  2. Hi I also stumbled across your blog! I would love to know what exact supplements he is taking? Thank you

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