myasthenickids.org

Charlie, unknown gene fault

18m old, arriving at a party...Charlie
2 hrs later at tea...Charlie
CharlieToday, aged 4

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.

Charlie Charlie

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