On April 21st I will be taking part in the 2013 London Marathon.  I am using this opportunity to raise funds for continued research into MeCP2 Duplication Syndrome.  Last year, Blake, the son of my close friends Jenny and Paul McMillan was diagnosed with this condition.

 

MeCP2 Duplication Syndrome is characterized by moderate to severe intellectual disability, severe and uncontrolled epilepsy, and recurrent respiratory tract infections, which respond poorly to treatment and are often a major cause of death.  Most sufferers also have weak muscle tone (hypotonia) in infancy, feeding difficulties, poor or absent speech, or muscle stiffness (spasticity).  There may also be a delay in the 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 the research needed to help allow Blake and other's 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. 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, 

Beth Christie