Mar 21, 2022 Latest post:
Apr 23, 2022
As most of you know Chelsey has had a mild developmental delay since birth with no known cause. She was happy,healthy and learning. At puberty her world fell apart overnight with multiple unexplained symptoms and no answers or real help. At age 15 she was accurately diagnosed with Catatonia and bipolar disorder and treated with ECT and medications. It took 18 months to get her properly diagnosed and treated. Then 4 glorious years of normal happy life followed until she got a cold and the bipolar and catatonia symptoms took over again. That was in December 2009 and it began a course of never ending ECT, worsening epilepsy, few answers, lots of complications including a long hospital stay. After many years we included relocation to Pittsburgh pa in January 2015. Doctors kept saying they were missing something as things just didn’t add up. In 2017 we got her diagnosis of Phelan McDermid Syndrome. She is missing the end part of one of her 22nd chromosomes which happened spontaneously and she has a very tiny deletion affecting the shank 3 gene. We were told no big deal, will not shorten her lifespan and explains the epilepsy, bipolar and developmental delay. We now know having PMS is not that innocent explanation we were told for some people. There is a growing group out of the 3000 diagnosed with PMS and small deletions like Chelsey who are affected with severe neurological issues including severe catatonia, bipolar disorder, Epilepsy and immunology issues. Each of kids is a bit different but most do not respond well to the medications needed to treat these disorders and that makes it even more difficult.