Carl Ayres-Smith

Carl's Raising awareness

Fundraising for PMSF UK
£220
raised
PMSF UK

Verified by JustGiving

RCN 1157423
We provide support in the UK to people with Phelan-McDermid Syndrome

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.

About the charity

PMSF UK

Verified by JustGiving

RCN 1157423
We provide support to people and their families in the UK who have Phelan-McDermid Syndrome (chromosome 22q13.3 deletion). This support is provided through information, therapies and financial grants, and by organising family days and get-togethers. Thank you for supporting PMSF UK.

Donation summary

Total raised
£220.00
+ £15.00 Gift Aid
Online donations
£170.00
Offline donations
£50.00

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