Kidney patient Christine Mather

‘I don’t want others to have these problems’ says research volunteer

“I would do anything I can to help with research,” says kidney patient Christine Mather.

Christine, 72, has polycystic kidney disease (also known as ADPKD) and has taken part in a number of research studies as a patient at Salford Royal. Most recently, she gave samples of her DNA to the 100,000 Genomes Project which is aiming to transform the diagnosis and treatment of rare diseases and cancer.

Her condition is one she shares with about 60,000 people in the UK and it’s the most common inherited disease to affect the kidneys. It’s caused by a genetic fault that disrupts the normal development of some of the cells in the kidneys and causes cysts to grow. These cysts prevent the kidneys working properly and eventually cause kidney failure.

Because it’s an inherited condition, Christine knows her daughter has a 50 per cent chance of being affected although, thankfully, she hasn’t shown signs as yet.

Christine, a former PA to a pharmaceutical firm’s Medical Director, only became ill at the age of 50 when the cysts she’d previously been unaware of began to stop her kidneys working. Eventually the cysts grew so large they overwhelmed her kidneys, which had to be removed – doctors discovered one weighed 10 kilos and the other 11 kilos, when normal kidneys weigh around 120 to 155 grams.

That left Christine, from Sale, needing haemodialysis to remove waste products from her blood until her successful kidney transplant in 2014.

She said: “I don’t want my daughter to have these problems so I will do anything I can to help research. Quite often it’s something small, such as giving a blood sample, but it all helps the people doing the studies. As soon as they find a cure it will be very good for my family, as well as everybody who has this condition.

“I have taken part in three different research projects so far and I used to be a model patient for student doctors and consultants in training – I know helping out in this way is appreciated and it’s interesting for me too.”

UPDATE: Research and analysis from the 100,000 Genomes project data is still ongoing but you can read more about its findings on Genomics England’s website.

  • PKD Charity is a voluntary organisation which supports people with PKD and their families, raises awareness and funds research.
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