I spend a lot of my time advocating and spreading awareness for individuals with Phelan-McDermid syndrome (PMS).
Phelan-McDermid syndrome, also called 22q13 deletion syndrome, is a genetic disorder caused by the deletion of part of chromosome 22 or a defect in a gene called SHANK3.
Phelan- McDermid syndrome can cause a wide range of symptoms varying in severity. Some could include global developmental delay/intellectual disability, motor skills deficits, delayed or absent speech, autism spectrum disorder, and minor dysmorphic features. The tragic phenomenon of developmental regression is extremely common among those living with PMS.
There are two boys that I feel lucky to hold in my heart forever: Ethan Wall and Miles Curtis.
Ethan Wall;
I worked with Ethan as his behavior technician, for 3 years. Ethan had a diagnosis of Phelan McDermid Syndrome and Autism. Ethan tragically passed away in March 2022 at 6 years old due to complications from PMS. I loved my days with Ethan, I miss them every day. I miss singing our songs that never failed to make him laugh and teaching him his very own form of communication that he could use with the world.
Through my grieving, I wrote and published my first book in October 2022.
To learn more about Phelan McDermid Syndrome, you can purchase a copy of my book E Man using the link below
https://store.bookbaby.com/book/e-man
Miles Curtis;
After publishing my book, I received many lovely messages from families across the world who have been impacted by Phelan McDermid Syndrome. Christina and Steve, Miles’parents, reached out to me asking to meet me and for me to meet their son.
From the moment I met Miles, I knew he was going to be a very important part of my life. I work with Miles as his personal caregiver and best friend.
Miles has been impacted by Phelan McDermid Syndrome in many ways.
Miles lost his words at six years old, his ability to independently eat, use the stairs, and hold a toy at seven, and his ability to chew and swallow safely at nine. He currently relies on mobility supports and as of last year, now relies on his feeding tube.