Phelan-McDermid Syndrome (22q13 Deletion Syndrome)

My younger brother, Mickey, has severe physical and intellectual disabilities, including cerebral palsy, a rare genetic disorder that is closest to Phelan-McDermid syndrome, multiple other genetic mutations, being on the autism spectrum, having severe sensory issues, a GI tube in his stomach because he aspirates, and more. From the minute he was born, I was [...]

Three years ago today the trajectory of our lives changed forever. We had been waiting for weeks to hear back from the genetics team at Children’s Dallas Hospital, so I called them that morning looking for an update. When my phone rang with a return call a few hours later I was not at all [...]