I went to uni with Jenny Mc Millan.  Her son, Blake has been diagonsed with MeCP2 Duplication syndrome.  Jenny + her huband Paul also have a daughter Faye.  As a mother of 2 children myself i can only imagine their fight for research into their son's condition + the hope for a cure.  The family live in Scotland.

MeCP2 Duplication Syndrome is very rare, and so far, not a huge amount known about it. Blake is only the 5th boy in Scotland to be diagnosed.

MeCP2 Duplication Syndrome is a condition that occurs almost exclusively in males and is characterised by moderate to severe intellectual disabilty. Most people with this condition also have weak muscle tone in infancy, feeding difficulties, poor or absent speech, epilepsy, which is very poorly controlled, and muscle stiffness (spasticity). Individuals with MeCP2 Duplication Syndrome have delayed development of motor skills such as sitting and walking. Many cannot walk at all. Many individuals with this condition suffer from severe recurrent respiratort tract infections, often leading to pneumonia. This is a major cause of death in affected individuals, with almost half succumbing by age of 25.

Please support this worthy cause + my effort in the Enniskillen 10k.  Donate here + i will also be doing the rounds with sponsor sheets!!!

Money raised from this page will go directly to research for MeCP2 Duplication Syndrome.  There are exciting studies which are already underway in both Scotland and USA. One of the studies is aiming to REVERSE this condition in the lab!

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