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Ellen, unknown gene fault

Ellen1Ellen was not diagnosed with CMS until 18 months old, there although was obviously ‘something wrong’ from birth as she was unable to feed and maintain her weight and suffered inexplicable weakness and fatigue.

Diagnosed with Congenital Myasthenic Syndrome at the Evelina Children’s Hospital at Guys and St Thomas, Ellen is now on pyridostigmine every three hours. She attends mainstream school with support. Her gene fault is currently unknown.

Ellen2 Ellen3 Ellen4