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  • Click to view jtrwirght's profile
    Posted January 25, 2014 by
    North Baltimore, Ohio
    This iReport is part of an assignment:
    Living with a rare disease?

    RYAN'S FIGHT with LEUKODYSTROPHY just got a little more RARE!


    CNN PRODUCER NOTE     jtrwirght says her son Ryan loves to play with his toys, watch TV, color and draw. "He is very independent and loves to do things on his own."
    - JacqueCNN, CNN iReport producer

    On January 20, 2014, we finally found the monster that is effecting our son Ryan's motor functions. It is a Leukodystrophy, but it has no name. It is a mutation in the GJC2 gene, or a Pelizaeus Merzbacher like disease. The special thing about Ryan is: he actually has 2 mutations in the GJC2 gene. This is called a compound heterozygous mutation. One mutation he inherited from his mother, and the other he inherited from his father. We knew something was was wrong when Ryan was 15 months old and wasn't able to walk on his own. That is when the therapies started(OT & PT). He had his first MRI done when he was 18 months. The MRI showed a lack of mylenation in the white matter of his brain. This is the first time we heard the term Leukodystrohy. Since then, Ryan has had 3 more MRI's and there has been no change from the MRI's before so the Leukodystrophy is classified as a Hypomylenating Leukodystrophy. His doctors are stumped because according to his MRI he has the white matter of a 6-7 month old baby. Ryan is 4 and doing so much more than a 6-7 month old baby would do. He talks using 5-6 word sentences, he rides a bike, he walks with his walker, and he attends preschool at Powell Elementary in North Baltimore OH.
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