Story
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Myself and my stepfather are running the GNR for my
niece age 7 who was diagnosed with Phelan McDermid-Syndrome in
Sept 2013.In simple terms,she was born missing a segment of chromosome
22.This deletion affects neurological development.What this means is she
has severe development delay and is unlikely to develop speech.Holly
has problems with coordination,social awareness and no understanding of
danger or risk.Holly needs constant supervision to keep her safe.There
is a wide range of severity of symptons.
There are just over 110 people who are diagnosed with PMS in the UK &Ireland and approximately 1100 worldwide.
All people with PMS have difficulty communicating,many have low tone in
their limbs and are on the autistic spectrum.All people with PMS need
additional care to support their daily lives.
Thanks for your support,
Carrie & Alan.