Olivia Grace – Phelan-McDermid Syndrome

This is 10 year old Olivia Grace (aka OG)! OG is non-verbal but her smile is all you need to see to know she is usually happy and very cheeky. She is super active, and loves the outdoors and going out on walks, which is very handy because she also loves her food!

Phelan-mcdermid syndrome

OG was born with Phelan-McDermid Syndrome, a rare genetic condition caused by a deletion or structural change at the end of chromosome 22 (in the 22q13 location) or a variant in the SHANK3 gene. As is the case with many rare conditions, there can be varying symptoms and several different descriptions of the condition. The international organisation supporting families and championing research for PMS is Phelan-McDermid Syndrome Foundation.

Unique Feet

OG and her family joined Cambridge Rare Disease Network’s Unique Feet group last year, around the time lockdown hit! It’s been amazing to have our community grow and for families to make connections even during this time when we are limited to virtual chats and activities.