Just about a year ago, my good friend Jenny texted the news that her much-wanted baby boy had arrived. It was a joyous text! But over the next few days, the tone to her texts changed dramatically. Her baby was showing worrying signs. Finally, Blake was diagnosed with a very rare genetic disorder, MeCP2 Duplication Syndrome which only affects around 150 worldwide.  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 disability. 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 respiratory tract infections, often leading to pneumonia. This is a major cause of death in affected individuals, with almost half succumbing by age of 25.

The impact on this diagnosis for Jenny and her husband Paul has been devastating. But they're amazing - positive and focussed and have devoted themselves to raising money and awareness of this cruel condition.

Rett Syndrome Research Trust UK has one goal: to accelerate treatments and a cure for Rett Syndrome and related MECP2 Disorders.

I had no idea what to do to raise money but a running a 10k seemed like a good start. And so I signed up to do a run in May! Thank you so, so much for visiting my page and all donations are really wonderful. 

Mich xxx

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