Our son Taylor’s first year was typical, hitting all of his milestones on time with the exception of his speech and language development. We became concerned shortly after his first birthday as he wasn’t yet saying any words. We enrolled him in early intervention services and he started receiving speech and language therapy. After a year we added in occupational therapy and physical therapy to address some minor fine and gross motor delays we were seeing.
We have always called Taylor our “mystery man” because we couldn’t quite put a finger on what was going on with him as he is still nonverbal at the age of 7 and has delays in his motor and cognitive skills. After many appointments and trips to Nashville, Pittsburgh, Cleveland, and Buffalo and seeing countless specialists we finally received our answer to our “why” question after we received the results of Taylor’s second round of genetic testing. Taylor was diagnosed with a rare genetic disorder called Phelan-McDermid Syndrome and has a mutation on his 22nd chromosome.
There are only about 2,700 known cases in the world. The genetic changes that cause PMS vary from person to person and can occur randomly (de novo) or be inherited from a parent who carries a related genetic change. In Taylor’s case it occurred randomly.
The most common characteristics found in those with PMS are intellectual disability of varying degrees, delayed or absent speech, symptoms of autism spectrum disorder, low muscle tone, motor delays, and epilepsy. Most people with PMS require lifelong care and are not able to live independently.
There is currently no cure or treatment specifically for PMS, but we are working to manage his symptoms and researchers are working hard to improve our knowledge of PMS and to find drugs and therapies that can help people affected with PMS. It is often undiagnosed due to a lack of awareness of the syndrome and that it requires costly genetic testing for a diagnosis.
Taylor is learning to communicate using a communication app on an iPad. Most importantly, Taylor is thriving and is a kind, loving, and happy little boy! He enjoys watching videos on his iPad, riding his adaptive tricycle, and playing outside.
Our goal is to increase awareness about PMS because this will mean more opportunities for research, treatment, and improved outcomes for those affected by PMS. All proceeds are going directly to the Phelan-McDermid Syndrome Foundation (www.pmsf.org) to help advocate and increase funding for continued research towards treatments and a cure.
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