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Dear loved ones, On Wednesday, July 25, we received a call from our neurologist's assistant informing us that Jack's lab results from July 16th had returned and that our neurologist wanted to see us on Thursday. In addition, he was to have an EEG the same day. Later that afternoon, we received another call asking us to schedule his MRI with their first available appointment at the beginning of September. Needless to say, Katherine and I started getting a bit worried. On Thursday morning, we met with our neurologist who recapped our last discussion... that he was going to test Jack for a rare disorder. Unfortunately, his long-shot guess turned out to be correct, so Jack has now been diagnosed with classic Menkes disease. It affects about 1 in (100,000 to 300,000) children and begins spontaneously in 1/3rd of the cases and is passed down genetically in 2/3rds of the cases. If we consider that the US has about 3.9 million births per year, there will be 16 to 40 infants born with Menkes this year. It was not found earlier because there is only one test that detects it and the only reason they ever perform that test is from the observation of a child's hair, giving the syndrome its slang name: the Kinky Hair Disease. Well, as it turns out, Jack didn't have any hair while he was in the hospital before. Since his hair is starting to grow out, his neurologist took note. Now that we know what it is, it's easy to see that Jack has all of the classic symptoms: hypotonia, seizures, the brain mass, visual difficulty in tracking, the hair. It's all comes down to the inability of his cells to absorb copper, a mineral vital to the enzymes that create and activate cells in the nervous system, blood vessels, bone, skin and--of course--hair. I suppose that there's more we could tell you, but to be quite honest, the news just gets worse and it's difficult to share. Having already repeated it several times to family and those we've run into lately, well... Why don't you check out our Menkes Info page to see more information on this disease. Your love and prayers are always appreciated. Anthony, Katherine, Jack and the pups (Sophie, Bailey & Pecas)
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