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There is always the possibility that Eddie's RCM diagnosis is hereditary so each of us will be evaluated via face-to-face consultation and echocardiogram. Several doctors have asked if we have any family members that have suffered "sudden death" at a young age . . . and so far, we think the answer is no. Any Harper or Powell relatives out there that know otherwise? Regardless, it's important for each of us to be tested and the kids are on deck first.
There are some specific gene mutations that occasionally characterize familial restrictive cardiomyopathy. It appears that these mutations cause production of defective cardiac proteins which interfere with the heart muscle's ability to relax. This, in turn, means not enough blood enters the left ventricle to be pumped to the rest of the body. And logically, this means blood begins to back up in the left atrium and lungs causing pulmonary hypertension and potential heart failure . . . more or less, a textbook definition of what RCM is. Once again, if any of you are interested in further clinical reading, feel free to browse here or here.
For Eddie, he will be meeting with neuropsychology, nutrition, occupational and physical therapy, and finally, with the lead transplant surgeon himself, Dr. Cohen. Once these evaluations are complete, we are on track to have Eddie added to the transplant waitlist which should be no later than next Friday (2/17).
Hope to post a follow-up entry by tomorrow evening . . .
Good Luck to All! I hope the Children look to this as a way of helping out by learning more.... Ask Good Questions and try to remember what is said. This opportunity may help some of them move ahead with a interest that may become part of a lifes' work.
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