Many of you already know of our experience - but for those that don't -- if you're struggling with your special needs' child in any way -- I cannot urge you enough to work with a geneticist in completing Whole Exome Sequencing (WES) trio.
Fighting for WES was one of the toughest battles I've ever fought. Not only because I had to sift through 3 denial and appeal processes w/ our private health insurance (MPI PPO), but it was an internal emotional battle as well. It was very difficult to fight for something that I really didn’t want the answer to. It was additionally difficult because I knew there was a possibility that this test, too, could come back inconclusive, just like our chromosome microarray (CMA) did. … But, I pushed forward. And I got it done, with much thanks to UCLA Geneticist Barbara Crandall and the Great Golden State (Medi-Cal). The results were a hard pill to swallow. They confirmed that my child is genetically challenged. In addition to his autism, we learned that he has a tiny mutation of his SHANK3 gene, also known as Phelan McDermid Syndrome.
But, my friends, at the same time, so many questions were answered. I learned so much about my son and I now have a specific community of people that truly understand our situation. Just like an ‘autism support group’ can help – I now have an even more specific support group to turn to. But most of all, the dx has given me HOPE. It's given me a purpose that's much greater and broader than helping Darus alone. I’ve learned and accepted that I cannot do it alone. I’m just one person. I need to work with as many people as possible to raise awareness, advocate, research, show gratitude, get involved in studies and do my part to figure out how to help him and all the others that are affected by rare genetic conditions. Last, but certainly not least, I've started to appreciate Darus for who he is and what he can do. For the most part, I’ve stopped dwelling on what he cannot do. I've resigned myself to accept our reality instead of desperately trying to change it. I am more at peace with myself.
I beg for everyone to find the solace that I’ve found via WES. I am here for anyone that wants help and/or needs support to obtain this testing for their child.