Chase's Story
Chase was diagnosed with Phelan McDermid Syndrome at the age of 2 and is one of only 1500 people diagnosed worldwide. Phelan-McDermid Syndrome (PMS), is also known as 22q13 Deletion Syndrome. It is a genetic condition that is caused by a mutation of the SHANK3 gene or a deletion (a missing piece) of genetic material that causes many different but related symptoms. 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.
Because the genetic changes vary, the symptoms of PMS vary too, and can cause a wide range of medical, intellectual, and behavioral challenges. 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. There is currently no cure or treatment specifically for PMS, but we know how to manage many of the symptoms and researchers are working hard to improve our knowledge of PMS and to find drugs and therapies that can help people affected by PMS.
Here is a video we put together when we first got the diagnosis:
