This year for my birthday, I'm doing something a little different. Instead of gifts, I'm asking for something much more meaningful, support for research into Phelan-McDermid Syndrome. This cause is deeply personal to me because my sister Shannon has this condition. Despite the many challenges that Shannon faces she is always smiling and brining joy to those around her. I want to help create a future where she and other people with PMS can thrive with more support, understanding, and medical progress.

My sister has a rare genetic disorder called Phelan-McDermid Syndrome (PMS), also known as 22q13 deletion syndrome. This condition is caused by a deletion or rearrangement at the q-terminal end of chromosome 22. It affects how the brain and body develop and function, leading to a range of intellectual and physical disabilities.

PMS looks different for every person, but common symptoms include low muscle tone (hypotonia), developmental delays, and absent or significantly delayed speech. Around 75% of people with PMS are also diagnosed with Autism Spectrum Disorder, including Shannon. In addition to these challenges, she also experiences epilepsy, which is another condition linked to PMS.

Because it is a rare disease, affecting an estimated 1 in 10,000 people, awareness and research are limited. That’s why this fundraiser means so much to me. Every contribution helps move us closer to better understanding, treatment, and support for people like my sister.