Story
Thanks for taking the time to visit my JustGiving page.
Phelan-McDermid Syndrome (PMS) is a rare genetic disorder that affects speech, mobility and cognitive development.
The mission of PMSF UK is to improve the quality of life people affected by PMS worldwide by providing family support, accelerating research and raising awareness.
It is not a know condition and when you say PMSF no one really knows about it. Roughly 3000 people have this. It effects many things,
- Absent or delayed speech
- Global development delay
- Normal or accelerated growth
- Minor dysmorphic features such as wide brow, wide nasal bridge, ptosis, large fleshy hands and flakey toenails
- Autistic behaviour
- Persistent mouthing and chewing and sometime teeth grinding
- Decreased perception of pain
- Aggressiveness
- Seizures
- Anachroid cysts
- Sleep disturbance
- People with Phelan-McDermid Syndrome will need additional care their entire lives.
Today I have raised awareness at my work place, if anyone else could help out it would mean a lot to me but much more to the people who need the help with funding.