Elaine & Paul’s Story

Amy was 15 when she was first diagnosed with juvenile nephronophthisis, an inherited condition that causes scarring and cysts to form in the kidney. 

Recalling how the diagnosis came about, Elaine, a 44-year-old, civil servant, from Moreton, Merseyside, says: “Amy just wasn’t herself at all. She complained about pains in her legs, but the GP initially said it was growing pains and recommended physio.” 

“That didn’t help, and by the time she went to the doctor again, several months later, she was really unwell. She was vomiting all the time and couldn’t keep anything down. Eventually, she was sent to hospital and diagnosed with bulimia, but when they took her blood tests, they revealed she had kidney disease.” 

“At that point, she had less than five per cent kidney function and nobody could believe she’d actually managed to walk into hospital herself.” 

A second diagnosis in the family

While both mother and daughter recovered well, Elaine’s heart sank when, in 2022, Amy’s younger sister Grace, aged 11 at the time, started to show signs that she might be suffering from the same condition.  

Elaine, a mother-of-eight, says: “I was always on red alert for symptoms in all my children. I have a genetic mutation and so does my ex-husband, so our children had a one in four chance of having kidney failure.” 

“When Grace started to complain that she had pain while walking, I could see she was beginning to present in the same way as Amy. I remember thinking, ‘this just can’t be happening again.’ Suddenly, there was a sense of history repeating itself.”  

Elaine says: “Waiting for a match was agony. It’s that constant state of not knowing, always wondering, ‘will it be today?’ It’s horrible to be constantly on alert, in case the phone rings. But last August, a match for one of Paul’s kidneys was found and that person’s healthy partner was a match for another patient – whose partner was in turn a match for Grace.” 

The operation finally took place in September 2023, and both Grace and Paul have recovered well.  

Elaine says: “Paul coped with the operation so much better than I did. He was up and about in days, whereas it took me a good four weeks before I started to feel OK. I’ve had another child since I donated and Paul’s completely back to normal, so it’s fine. We’ve even got matching scars. And this year, Paul and Grace will celebrate their first kidneyversary.” 

Having watched two of her children go through the kidney transplant process, Elaine is passionate about raising awareness of organ donation. She says: “Donation is vitally important and if you want to donate after your death, you should make your wishes known. For a family like us, with experience of being on the deceased waiting list, we’ve really been through the agony of waiting for a donor. By donating, you can change someone else’s life entirely.”