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Charlie, unknown gene fault

Charlie had respiratory distress at birth and struggled to feed and to develop and keep up with his twin. His daily battle with fatigue and weakness was a ‘mystery’ until, age 2½, he was eventually seen at the Evelina. Diagnosed with Congenital Myasthenic Syndrome, Charlie’s gene fault is currently unknown, however the rate of research is advancing at a rapid pace. Meanwhile, now on pyridostigmine every three hours, his quality of life is enormously improved. He is due to start mainstream school September 2010 with support.

Charlie5 Charlie3 Charlie4

Today, aged 4

Charlie118m old, arriving at a party…

Charlie22 hrs later at tea…