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Hi Alecia, I'm really sorry to hear your situation. All of us on this board will be willing to help you.. you can vent and ask questions, etc. anytime :)
It's very normal to feel lost and frustrated, especially when you're at this point where it's not for certain, but likely... I can imagine that you still sort of wish that the high CPK could be from something else, or that it isn't true. It will take time to process.
Maybe in the meantime you can talk to other family and friends... that sometimes helps. Even hugs help :)
Since you have a medical background, I guess you already know a bit about BMD. Your son has a genetics test, and I'm assuming that results will be in soon? You can wait and see what kind of mutation he has, and if he has a mutation that other patients have had, you might (but not always) be able to figure out a semblance of a prognosis. If you don't think you're ready to even think about that, maybe put that off for a while. I think it is still a good idea to know what kind of mutation your son has so you may be able to understand what to expect. Also, there will be a form of treatment that is mutation-specific (PTC124, or ataluren)... and if your son has a nonsense mutation, he may respond to that medication. About 10 percent (or a bit less) of BMD patients have a nonsense mutation.
In the meantime, maybe learning more about BMD might help? This might not be for everyone, but I personally found it helpful to simply learn as much as I could. Maybe instead of learning only about symptoms and complications, you can read about potential treatments, ways to improve health overall, or articles about how other families have dealt with this illness. Other things you can do include getting the vitamins your doctor recommended, and trying to make sure your son gets a healthy balance of rest and activity (swimming is a good activity for those with MD).
It's hard, but optimism goes a long way!
Best wishes! |
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