Family photo helps solve mystery of toddler’s rare genetic condition
A TODDLER’S rare genetic condition which baffled doctors was only diagnosed thanks to his mother – who spotted a clue in an old family photo.
Rudi Else was born in September 2015 but his parents became worried when he couldn’t sit or hold his head up and was quite floppy at five months old.
He was referred to hospital but doctors were bewildered by his “rag doll” condition after tests results came back inconclusive.
But mother Dani Ingrosso, 39, helped unravel the mystery after noticing similarities between Rudi’s symptoms and that of her partner John’s cousin, Michelle.
She came across a photo of 10-year-old Michelle, who died 30 years ago, pictured in a wheelchair and started asking questions.
The family revealed Michelle had spinal muscular atrophy, a genetic condition which causes muscle weakness and progressive loss of movement as a result of deterioration in the nerve cells.
Full-time mother Dani, from Chesterfield, immediately told doctors who tested Rudi at six months old for the condition, which came back positive.
But the family was dealt a hammer blow after being told that children with SMA Type I, which Rudi has, have a life expectancy of around 18 months, with 95 per cent never making it past their second birthday.
After his diagnosis they had a “good year”, but he caught a chest infection last winter and was rushed to the Sheffield Children’s Hospital’s ICU where doctors hooked him up to a life-support machine for a month.
The couple were then given a ray of hope after they learned of a pioneering new treatment involving a series of injections being tested in America and Europe.
The 19-month-old’s condition is improving and he has now returned home, but will require injections every four months for the rest of his life.
His mother is part of a group of parents who are attempting to put pressure on the NHS to adopt and roll out the approved drug in the UK.