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International Organization of Glutaric Acidemia

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Michael Fondacaro PDF Print E-mail

April 23,1997

Our son michael was diagnosed with GA1 when he was eight months old. Our pediatrician sent us to a neurologist when he noticed that Michael was still not able to sit up and did not have very good control of his head. The neurologist confirmed the low muscle tone and had us begin physical therapy. He also sent us for blood and urine tests, which showed a high level of glutaric acid in Michael's urine. We then followed up with an MRI and went to Mt. Sinai Hospital in New York City to see a genetic doctor, who gave us the diagnosis.

We met with a nutritionist who started Micahel on a special low protein formula called Glutarex1. We also began the road to low protein foods for him. He has since switched to a formula called 80056, mixed partly with whole milk and eats 2 to 3 meals a day of solid food. We rely mostly on the formula for all his nurtitional needs and continue to introduce solids as much as he will tolerate. We are currently working on getting him off of the formula and taking more solid foods. He takes carnitine and creatine daily. We had a skin biopsy taken for confirmation of the disorder and to obtain more specific information as to the mutation that Michael has.

Since diagnosis in December 1997, Michael has been hospitalized twice due to comiting and put on IV fluids. He used to attend daycare and was exposed to chikenpox, and we were able to get a Vzig shot to lessen the effects of the exposure, fortunately he never got them.

Michael currently has physical therapy, occupational therapy and speech therapy once a week. His head control has shown improvement. We used to go to New York approximately every 3 months for check  ups and blood tests to check his amino acids and glutaric acid levels, but now we follow up with Dr. Holmes Morton in PA about twice a year.

Now that all of that is out of the way, here is what Michael was like as a child.

Michael is one of the happiest kids we have ever seen. -of course, we may be a little biased- Michael loves to laugh and smiles at the littlest things. Although Michael can not speak, we are currently teaching him sign language, and he can sign approx. 25 words. We are also currently working on getting him some sort of communications device. We often think of some of the worst days we have had either at work or in general, and coming home to his smile makes all the frustration instantly disappear. We think he is going to be a little bit of a practical joker because he often drops his toys, almost as if on purpose, looks at one or both of us out of the corner of his eyes and laughs. We thank god every day that we have such a happy, beautiful boy. To summarize it all, we have to use a phrase that many of us have heard:

Who can turn the world on with his smile....

 
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