More training for GPs and health care professionals in recognising the symptoms would undoubtedly help in reducing diagnosis times. Practically, together with training, a flow chart on how to address symptoms that may be very common if isolated, but together can define the onset of a connective tissue disease like scleroderma, would be a good starting point.
Giovanni has Schwartz–Jampel syndrome (SJS).
The heartwarming moment an eight-year-old took his first steps after major surgery has been caught on camera. Giovanni Algarin
'Googling Chloe’s condition was terrifying.'
A mum has spoken candidly about a condition that is causing her 11-year-old to “regress to a newborn baby”. Chloe Miller
In 2015 Noah's brain function increased dramatically.
A boy who was born with 2% brain function has been called a “medical miracle” as he started school. Noah Wall’s parents
A mum has spoken of her relief when her son was diagnosed with a ‘hidden vagina’ after years of complicated health problems
'People stop me in the street and ask: what have you done to her?'