We received Andrew's genetic test results back in March letting us know that he had a duplicate Exon 11. We were happy we were given a clear answer with his testing, but all of the research and clinical trials are focusing on the latter of the Exons for Duchenne - in the range of Exons 45 - 51. It kind of diminished our hopes of getting Andrew into a clinical trial, but we will continue to fight and provide Andrew everything we can to meet his needs.
Once we had Andrew's results, we decided to have me go get genetic testing to see if I was a carrier of Duchenne. We just figured information is power and the more we know, the better. Well, we received those test results today and I am NOT a carrier of this horrible gene. Some women who are carriers may have heart issues later on in life and this is now something we do not have to worry about - thank goodness.
So what does this mean for Andrew? It means that his Duchenne Muscular Dystrophy was not inherited, but was a sporatic genetic mutation when we conceived him. This really does not help take away the fact that we have to live with this nightmare each and every day, but it somehow selfishly gives me some peace of mind that I didn't pass this on to him. Why this precious little boy was dealt this hand in life, I don't know if we will ever know, but I do know that Steve and I will do anything and everything to make his life the best ever!!
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