PAULA and Paul Ingham finally have a name for the condition their four-year-old son Harley suffers.
But the Sheffield couple aren’t sure that makes things any more bearable.
They’ve been able to type the word ‘cystinosis’ into an internet search engine to find out more - but the same frustrating truths were still laid bare as they spoke to doctors in a consulting room at Sheffield Children’s Hospital, and were told medics just don’t know how Harley’s illness will progress and what impact it will have on him.
The genetic disease is characterised by an abnormal accumulation of the amino acid cystine, which in turn attacks the body’s organs.
Already little Harley is showing signs of the condition in his eyes with the presence of ‘crystals’, although thankfully sight tests show his vision has not yet been affected.
But his kidneys have not been so fortunate, and examinations have shown they are not functioning properly - meaning he is losing out on vital sodium, potassium and phosphates.
Healthy kidneys absorb minerals into the body, at the same time as getting rid of waste - but Harley’s damaged organs mean he simply gets rid of both the good and the bad.
The most obvious sign of his condition is his size, since although Harley is four and a pupil at High Green Primary School he is still small enough to fit in a pushchair - something he needs to use often because his little legs tire easily.
Other than that mum Paula said he is a “typical little boy” - although she worries about what the future holds.
“To look at him, apart from the fact he is very little, you wouldn’t know there was anything wrong,” she said. “The crystals in his eyes and the problems with his kidneys are the two things at the moment, although eventually it will no doubt work around his body.
“Nobody knows what’s going to happen in the future - it’s a case of waiting and seeing.
“That’s the hardest thing - the uncertainty and the unknown.”
The couple have also had to deal with the worry that the disease could also affect their daughter Isabel, aged eight.
Since both Paula and Paul, from High Green, are carriers of the condition, there was a one in four chance Isabel would have it too. They are currently waiting for the results of tests but are hoping for good news.
Although Harley has started medication to help fight the cystinosis, its long-term effectiveness - like so much with the condition - is still unknown, since the treatment has been available for only the past five years.
A desire to help further research into the disease and improve outcomes for patients like Harley inspired his family and friends to organise a sponsored walk around Sheffield’s football grounds to raise money for The Cystinosis Foundation.
On April 9 participants in fancy dress will walk 11 miles starting and finishing at Wednesday’s Hillsborough ground, via Don Valley Stadium and Bramall Lane.
To sponsor them, search www.justgiving.com for The Cystinosis Foundation or search Facebook for the group ‘A Walk for the Cystinosis Foundation’.