A Stocksfield woman finally knows what has caused her lifelong liver problems - and even meant she needed a transplant - after pioneering researchers at Newcastle University have become the first to identify a rare new disease.
Linda Turnbull, a barrister, had a liver transplant almost 30 years ago. Now in her 60s, she had suffered with liver failure for years before that - since the age 11. But until now, doctors had never been able to work out exactly what had caused her illness. More recently, she's also suffered kidney failure.
However, she's lived a relatively normal life - and has become a powerful advocate for people with liver problems. She even founded the support group Liver North and remains a governor of the charity.
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She was just a child when, after beginning to vomit blood, she was diagnosed with liver failure. She never knew, until now, why she had become ill. But a study at Newcastle University has now identified Linda as one of 15 people with a disease called TULP3-related ciliopathy.
This causes liver and kidney failure in children and adults and is an inherited condition. The new research, published in the American Journal of Human Genetics, has revealed that a faulty gene is causes damage to the liver and kidneys.
Linda said: "It is brilliant to finally have an answer to my life-long questions: Why has this happened to me and why do I have this condition. It’s fantastic that this research has been led in Newcastle and it means that people in the future will have information regarding their condition and how best to treat it."
Professor John Sayer, deputy dean of clinical medicine at Newcastle Uni and a senior consultant at the Newcastle Hospitals NHS Trust, said the findings had "huge implications" for the treatment of some patients suffering from kidney and liver disease. He said being able to give a "precise diagnosis", meant treatment could be better-tailored to patients.
Prof Sayer added: "We were surprised at how many patients we were able to identify with TULP3-related ciliopathy and this would suggest that the condition is prevalent within those with liver and kidney failure.
"We hope to provide a proper diagnosis for many more families in the future. This work is a reminder that it is always worth investigating the underlying reasons for kidney or liver failure to get to the bottom of the condition. Finding a genetic cause of liver or kidney failure has huge implications for other family members, especially if they are wishing to donate a kidney to the patient."
The research was co-funded by Kidney Research UK and the Northern Counties Kidney Research Fund - and involved making use of the Genomics England 100,000 Genomes project.
The Newcastle team will now work to test treatments for the newly-identified disease by carrying out further genetic testing.
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