My consultant found the equivalent of a spelling mistake in the complete works of Shakespeare in my genes!
Retired nurse Angela Watt has told how her ‘amazing’ consultant has cracked the code to find out why five generations of her family have suffered with rare kidney disease.
Angela, a trustee with Kidney Research UK, is part of a pioneering study called 100,000 Genomes, where whole genome genetic data can be trawled for family links into rare diseases.
The project did not provide a clear answer straight away but thanks to her consultant, who personally trawled the genomic data, he found the needle in a haystack answer.
Cracking the code
“Cracking the code is like finding a spelling mistake in the complete works of Shakespeare,” Angela said, “and my incredible consultant has done just that. He is tenacious and refused to give up. I can’t thank him enough.”
The gene codes for a protein involved in breaking down uric acid. If that gene does not work properly it can cause early onset gout and autosomal dominant tubulo-interstitial kidney disease (ADTKD).
This is a condition which usually affects middle aged people with no warning and no symptoms – which is exactly what happened to members of Angela’s family dating back to the 1930s.
However, while Professor John Sayer, a clinical nephrologist, with Newcastle University, has found the genetic link, it doesn’t mean there is a treatment.
“It’s why I’m passionate about research,” Angela said. “It’s what changes things. It makes things better for future generations of families like mine.”
Family history of kidney disease
Angela’s story begins with her great grandmother Margaret McAvelia, who died of kidney failure at the age of 48, almost 100 years ago.
Of Margaret’s four children, two daughters, Nancy and Audrey, both developed kidney disease when they were middle aged in the 1970s.
Nancy was on dialysis for seven years and had a transplant in 1986. Audrey had a transplant in 1978 but sadly died after only three months.
In 2000 Angela’s mum, Margaret Stewart, (Nancy’s daughter) was diagnosed with kidney disease – she sadly died in 2013.
When he was just one year old, Angela was told her youngest son Dan had kidney scarring from urinary reflux. This is where the bladder doesn’t empty of urine and some goes back up into the kidney.
However, thanks to the genetic code being cracked, the family now know his condition is related to hereditary ADTKD.
What the future holds
Now 15, Dan will need a kidney transplant in the coming months and luckily is a match with his dad Brian.
At some point in the future Angela knows she will need dialysis and a kidney transplant. Her kidney is currently stable at around 20 per cent.
“In 20 years, I need a better treatment for Dan’s children and for future generations of my family,” Angela said.
“I want Dan to know his transplant will last the rest of his life. I want the side-effects to not end up being worse than the kidney disease was in the first place. Research is crucial.
“We had no idea what caused the kidney problems in our family, we just thought it was general nephritis. Until now.”
Meanwhile, Angela is heartened seeing Dan cope extremely well living with his health condition thanks to being a keen athlete in cricket and football.
“He gets tired, but he would rather enjoy the sport because it is good for his health and well-being.”
Angela has worked in the kidney field since 1999 when her first renal nursing post was on the Shetland Islands when the hospital there developed its first renal unit.
When the family moved from Scotland in 2003, she worked in the renal department at Newcastle’s Royal Victoria Infirmary (RVI), then the larger unit of the Freeman hospital, then as a specialist nurse at the RVI, before retiring in July 2020.
“I always knew about my family history and it was that which drew me to renal nursing. It became a vocation,” she said.
“As a patient, it helps when you’re been given information and you understand it fully, but by the same token it can be a burden when you know the pitfalls.
“Most parents wouldn’t know potential outcomes of a child’s diagnosis. However, I knew all the negatives. I also knew the positives, but that is difficult to balance as a parent. You know the worst-case scenario and have to put that to the back of your mind when it’s your own family.
“Everyone thinks kidney transplantation is the end of the story but as a renal nurse I know that isn’t always the case. I know what can go wrong.
“When I look back to Nana Nancy in the 1980s, her kidney transplant lasted seven years which seemed great at the time, yet nowadays we’d expect it to last a lot longer. Wouldn’t it be great if it lasted a lifetime.”
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