Phelan-McDermid Syndrome Awareness Day

This is my friend Stefanie with Freddie, her son who is five. Freddie has Phelan-McDermid Syndrome. This is a devastating neuro-developmental disorder. A missing part of chromosome 22 results in this condition and only about 3000 people in the world have been diagnosed with it.
Freddie is not mobile or verbal, has many developmental difficulties and requires one to one care for 24 hours a day. However we have been so encouraged to see him start school with a special chair that supports his body and helps him move around. Although he cannot speak, and he doesn’t play with toys, he enjoys being read to and interacting with his school carers, his brother and other children.
Stefanie is amazing with him and when not physically caring for him she is constantly working for support and funding to make sure Freddie lives his best possible life. Her life involves anticipating his every need as well as looking after his young brother.
Today is Phelan-McDermid Syndrome Awareness Day and I wanted to make you aware of it. The more people that know the name, the more it is talked about and then the more likely that one day there will be a cure.