Story
Last year my nephew Blake McMillan was diagnosed with a degenerative genetic disorder at only 21 days old. MeCP2 Duplication Syndrome is a rare condition, occurring almost exclusively in males, with only around 150 diagnoses worldwide.
MeCP2 Duplication Syndrome is a condition that is characterized by moderate to severe intellectual disability, severe, uncontrolled epilepsy, and recurrent respiratory tract infections which respond poorly to treatment, and are the major cause of death in sufferers of this cruel condition. Most people with this condition also have weak muscle tone (hypotonia) in infancy, feeding difficulties, poor or absent speech, or muscle stiffness (spasticity). Individuals with condition may also have delayed development of motor skills such as sitting and walking. Approximately one third of people with this condition cannot walk without assistance. Almost half of these children die by age 25. There are only 25 people in the UK diagnosed with this condition.
Blake, now over ten months old, is making very slow progress. His parents hope that one day he will be able to play with his big sister Faye, who adores him. But, they know that he'll always struggle to have the normal childhood that we all wish for our children. By donating to the MeCP2 Duplication Syndrome Fund at Rett Syndrome Research Trust (RSRT), we can help fund research needed to hopefully allow Blake, and others like him to live a long and healthy life.
The MeCP2 Duplication Syndrome Fund will exclusively support scientific meetings and projects devoted to the study and means of treatment of MeCP2 Duplication Syndrome. 100% of every penny contributed will be invested in research.
Naturally, I feel passionately about this cause, and would desperately love to help find a cure for my nephew, and if not a cure, at least better treatments to improve his quality of life. We know Blake will spend a lot of his life in hospital, and will have numerous problems, but with your help, we can hopefully make this little boys life easier.
After spending lots of time thinking how I could help, I have decided to attempt the Three Peaks! Of course, this cannot be done alone, so I have talked 3 friends into doing this with me, 2 other climbers, Bruce Hampton and Mark Thomson, and one driver, David Moore.
The Three Peaks Challenge is an attempt to climb the highest peaks in Scotland, England and Wales. These peaks are Ben Nevis, Scafell Pike and Snowdon. We aim to do this within 24hrs, starting on 31st May 2013.
Donating through this website is simple, fast and totally secure. It is also the most efficient way to support my fundraising efforts.
Many thanks for your support,
Garrick Hirst