Baby Max Weston from Chesterfield, pictured with his older sister Holly, was diagnosed with Batten disease after his sibling suffered a fit and received her own diagnosis
People living with rare and complicated health conditions have experienced more challenges than most during the pandemic. However, emerging remote health services offer new opportunities
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.