A grateful couple are undertaking a Christmas charity challenge to say thank you to a hospital that provided care for their son.
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Clare and Tom Law are taking part in the National Elf Service, a festive fundraiser when charity supporters don their festive jumpers, dress up as elves and take on challenges to raise much-needed funds for Sheffield Children’s.
They were inspired to take part after their six-year-old son was cared for at Sheffield Children’s. Austin was diagnosed with a rare genetic disorder called cystinuria in July 2018.
Cystine is an amino acid that make up proteins in the body. While most people’s kidneys break down these amino acids and reabsorb them into the body, people with cystinuria are unable to do this. As a result, cystine builds up which causes crystals to form and eventually turn into kidney stones.
A stone can appear for the first time at any age, but most people with cystinuria get stones in their twenties and thirties. Austin was just four when he was diagnosed, after a stone almost filled the entire kidney.
Mum Clare recalls: “He had a bout of illness. We knew he had kidney stones following scans at our local hospital in Blackpool but had no idea why and had never heard of this condition.
“It was a mixture of emotions. We were glad that they had found why he was poorly regularly as we knew something wasn’t quite right. But as the condition is so rare in children, there wasn’t lots of information out there. We weren’t sure about the treatment he would need and if he would make a full recovery. That’s when we were referred to Sheffield Children’s…. See the rest of the story here