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To be told you can’t be a solution to your son’s problem is absolutely devastating

18 November 2022

Melina and her son Charlie are leading our latest campaign to fight the disease that has kept the 12-year-old requiring life-saving dialysis treatment. Charlie has bravely battled kidney disease since he was just eight years old.

Charlie was diagnosed with nephronophthisis, an inherited condition that causes scarring and cysts to form in the kidney. It is the most common genetic cause of kidney failure in children and young adults. Despite the many impacts on Charlie’s life, as it turned out he also had renal bone disease and high blood pressure, the youngster has shown determination beyond his parent’s belief.

Melina and son Charlie
Melina and son Charlie

A parents' worry

Melina said: “Charlie is the one who has consoled us through all this. I just don’t know from where he draws his strength.

“As a parent, you worry about whether you are being paranoid or if there is something that really is wrong. I had a feeling that Charlie’s health wasn’t right and that whatever was affecting him could not be explained as typical growth pains. His diagnosis threw us into a strange and frightening medical nightmare we’d never experienced before. It felt like we were dropped onto a treadmill running at high speed and we tried desperately to stay on our feet.”

Despite the family’s hopes, Charlie’s kidney function quickly declined to the point where he went into renal failure and needed to find a suitable transplant soon. His father was ruled out as a donor he had had cancer at age 19, so it was over to Melina. Within just hours of the conversation starting, Charlie’s mother was also ruled out due to her ongoing health condition.

Disappointment is not being able to donate

Melina continued: “I don’t think I’ll ever be able to recover from being turned down from giving my kidney as it meant that I’ve had to sit back and watch what he’s gone through and feel responsible that I’ve not been able to help him. His kidneys kept going right up until Christmas at which point, he had to be put on life-saving dialysis treatment. Without this, Charlie wouldn’t live past two weeks and sometimes that’s too much to bear.”

Kidney disease has taken away Charlie’s ability to be a typical teenager, meet with friends and enjoy his sports. He loved judo, was learning to scuba dive and rugby was his biggest passion. Now he often uses a wheelchair because he is so exhausted.

Since starting dialysis, Charlie has struggled with many aspects of the treatment and his mental health has suffered. A professional counsellor is helping make a difference and he continues to show fighting spirit.

Charlie having dialysis
Charlie having dialysis

Research is already well underway to help children like Charlie to live a full life. A Kidney Research UK-funded team in Newcastle led by Professor John Sayer is investigating potential treatments into Charlie’s condition. They have tested a broad spectrum of medicines to see whether any could be used to treat nephronophthisis.

Research to understand nephronophthisis

Professor John Sayer, professor of renal medicine at Newcastle University said: “We have spent many years trying to understand this terrible disease that predominantly affects children and young people which has helped us to advance treatments and prevention methods thus far. Our research has identified 12 potential medications that have been able to restore disease mouse cells to normal. Hearing stories like Charlie’s really put our work into context and make us more determined to find effective treatments to give him and others a chance at living a normal life.”

Professor John Sayer sitting at his lab bench
Professor John Sayer

John and his team have received an additional grant from Kidney Research UK to further investigate these 12 drugs in human kidney cells as well as additional mouse models. For the family, research such as this is a ray of hope amongst the darkness.

Melina said: “Knowing that there are people out there that are putting all their efforts into helping kidney disease patients like Charlie is absolutely incredible. Research is the only way that Charlie can get his life back and even on the toughest days, knowing that there are people out there trying to help him gives all of us hope for the future.”

Looking for a treatment to help children like Charlie

If John’s work is successful, new treatments for nephronophthisis could be developed in the near future. For Charlie, his immediate hope lies in finding a suitable donor.

“Being able to stop dialysis, and getting his energy back, and being able to do the sports he loves again would be amazing,” said Melina. “He’s already asked if we can go to Cornwall to do some body-boarding when he’s recovered. That’s his vision: Cornwall, a surfboard, and a pasty (because pasties are just one of his favourite foods that he’s not been able to eat since being diagnosed with kidney disease). We’ve promised him that we will absolutely make that happen, because he misses the water. He misses it so much.

“Further into the future, Charlie’s got big plans. He wants to go to university and study to become an animal behaviourist, and then go to Australia to work with Tasmanian Devils. I have absolutely no doubt that he will accomplish that. He’s so determined. There will be lots of challenges for him along the way.

“He will likely need several more transplants in his lifetime. But I have hope, and so much of that hope comes from keeping up to date with the latest research being funded by Kidney Research UK. Amazing things are happening."

Our research is only possible with your support.

Your donation can help find a treatment for children like Charlie.

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