Nine year old Rhys lives with cystinosis, a rare genetic metabolic condition, but he’s full of hope and dreams of becoming a scientist one day to help children like him.
Rhys is a bright and curious nine year old who loves science. He lives in Kent with his mum Nichola and family. To most people he looks like a healthy and energetic child.
However, from a young age Rhys has been living with cystinosis, a rare genetic metabolic condition that affects every part of his life.
Looking back, Nichola now recognises the early signs that something wasn’t quite right. When Rhys began weaning onto solid foods at around six months, he wasn’t gaining weight as expected. He struggled with his development too as he didn’t crawl and hated tummy time. He would wake up frequently for feeds, his nappies were constantly soaked and he was always guzzling water.
“At the time, as a first time parent, it was hard to know what was normal.”
After blood tests showed his electrolytes were worryingly unbalanced, Rhys was referred to the renal team at Evelina. Further tests confirmed that he had cystinosis with Fanconi syndrome.
Cystinosis causes crystals to build up in the body, which damages organs like the kidneys and eyes. Fanconi syndrome means his kidneys lose the essential nutrients he needs to stay healthy.
It is a life-limiting condition that requires a strict routine. Rhys takes multiple medications every day, uses regular eye drops and has to drink 3-4 litres of water every day to stay hydrated.
“I remember walking away with massive bags of medication and special drinks. Your whole life changes in that appointment.”
Managing Rhys’s health is a constant balancing act. A heatwave or simple bug can mean a trip to A&E. As the condition is so rare, Nichola often has to explain his needs to staff who haven’t seen it before.
“As a parent, you’re often explaining to medical experts about a condition they’ve never heard of which can be difficult.”
Those visits often meant long and stressful waits in A&E while Rhys got worse. Now, he has a ‘red card’ that gives him direct access to the children’s ward when he needs it, which has been a huge relief for the family
As Rhys gets older, he’s becoming more aware that he’s different. He sees a psychologist to help process those feelings, and he attends a coordinated clinic at the Evelina where all his specialists, from kidneys to eyes, see him in one place. Nichola says this opportunity has been invaluable and they have had the chance to meet other families living with cystinosis too.
“It’s looking at the whole child. Not just one piece at a time.”
The staff at Rhys’s school are also part of his support system. They help him stay on top of things at school, making sure he takes regular breaks and keeps a water bottle with him so he stays hydrated during lessons.
Last year, Rhys did something incredible. With support from the Evelina team, he delivered a presentation to his whole school explaining cystinosis in his own words and earned a Headteacher’s Award.
“I’m proud of myself”
Despite the challenges, Rhys remains optimistic about his future.
“I would love to become a scientist when I am older, to make medicines and do cool experiments. I want to help children like me.”
His mum shares the same perspective and offers advice to other parents facing a rare diagnosis.