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Like a punch in the stomach , is how Megan Willis felt on hearing that her eight-week-old baby with partner John Hall had a life-limiting muscle-wasting disease. It was devastating almost too much, too painful to process, says Megan, 29, an events manager, who lives with John, 36, a retail manager, in Colchester, Essex. Little Edward has the genetic condition spinal muscular atrophy (SMA), in which the lack of a protein called SMN, vital for muscle development and movement, results in progressively weaker muscles. Until three years ago there was no treatment and babies affected by Type 1 the most severe form gradually lost the use of their muscles before dying, usually before age two as a result of breathing problems caused by weak chest muscles.

United kingdomUnited statesAmanda mortensenMegan willisJohn hallSally anne tsangaridesDavid watsonOlivier woutersAssociation of the british pharmaceutical industryNational institute for healthLondon school of hygiene tropical medicineLondon school of economicsBatten disease family associationJournal of the american medical associationNew england journalNational institute