Research changing lives for family devastated by rare genetic kidney disease
Two sisters from Devon have escaped a lifetime on dialysis, thanks to research which has improved treatment options for the genetic kidney disease which killed their grandad and aunt.
Janette Murch, a 41-year-old who works in dairy farming, and her younger sister, Rosalyn, inherited a genetic fault, causing a rare kidney condition - Atypical haemolytic uraemic syndrome (aHUS). A little over a decade ago, dialysis was the only option to treat their kidney failure. However, medication introduced by the NHS in 2015 has transformed lives.
Research breakthrough
The breakthrough of treating aHUS with eculizumab was made by Professor Tim Goodship and his team at Newcastle University, with funding from Kidney Research UK. They found that infusions of this medicine prevent aHUS from attacking the kidneys, helping to restore and protect kidney function.
Despite this significant advancement, living with aHUS is still challenging and this causes Janette anxiety for the future of her two sons, aged seven and nine, who have also inherited the genetic fault.
Janette says: “aHUS is a very rare condition, but it’s common in my family. My grandad was on dialysis three times a week before he died, and my aunt died in her late thirties after the condition caused her transplant to fail. It’s amazing that 25 years later, there is now medication to protect our kidneys. It isn’t pleasant but we are lucky to have it.
“I’m grateful that my children don’t have to see me on dialysis and that I will have a longer life. However, my kidney function still fluctuates, and doctors have told me I will need eculizumab infusions every two weeks for the rest of my life.
“The medication causes me to feel exhausted and have terrible headaches. I’ve had to grieve for the life I had. I used to do everything at 100 miles an hour, but I can’t anymore. I feel guilty not having the same strength or energy to spend on my boys.
“I worry about their futures. I just hope one day researchers find a way to treat aHUS without needing life-long medication. That could make a huge difference to my children’s lives, as well as my own.”
Rare disease affecting a whole family
When Janette was in her mid-twenties, her family discovered that the kidney disease which took the lives of her grandad and aunt, was caused by a genetic fault.
Janette says: “My five siblings and I were tested, and we discovered that five out of the six of us carry the gene. It doesn’t necessarily mean it will be triggered to cause kidney disease, but that has been the case for me and my youngest sister.
“For many years after being tested, we went about life unaffected. It was nine years ago when my youngest sister experienced kidney failure and spent time on dialysis. Then, in June 2022, I had Covid-19, and doctors believe that triggered my gene, causing my kidney function to plummet.
“I had ten days of constant sickness and needed to be taken to hospital in an ambulance. Fortunately, my husband knew enough about kidney disease in our family to inform the doctors. When they tested my blood, they found my gene had been triggered and my kidneys were failing.
“I stayed in hospital for ten days and I can’t explain how bad the headaches were. It felt like my head was about to explode. I remember thinking that I must have looked like my grandad when he was in hospital. I didn’t know if I was going to survive. That’s really hard to face, particularly having children. They were only four and six at the time.
“I felt guilty for the kids because they weren’t allowed to visit me in hospital during the Covid-19 pandemic lockdowns. I tried to phone them and put on a brave face, but I felt awful. Seeing them crying, wondering why I couldn’t come home, was heartbreaking.”
Treatments still hard despite advancements
Janette and her sister are being treated with a medication called eculizumab, which helps to protect and restore kidney function. Both sisters have infusions every two weeks, stopping an overactive part of their immune system – called the complement – from attacking the kidneys.
When treated with eculizumab, aHUS patients are less likely to need dialysis, and transplants are more likely to be successful for those with the condition. However, this new treatment is not without side-effects and is not a cure.
Janette says: “When I first came home from hospital, I think a lot of people thought I was better, but the medication makes me so tired and causes me brain fog. I grew up on a farm, so I love my job milking cows, and that way of life. However, I’m not able to work as much or enjoy all the things I used to.
“I find it difficult to have to rely on people for support, even though friends and family have been fantastic. I’ve felt like my husband has become my carer which is hard. As a family, we love horse-riding, being in the countryside and going on walks, so it’s frustrating not always being able to join in.
“It’s challenging to find the right emotional support because they aren’t many people who truly understand what I’m going through. I’m fortunate to have my sister to talk to, as she gets it. She has really pulled me through.
“I’m just grateful to be here. If putting up with my treatment means I get to see my boys’ birthdays and football matches, then it is completely worth it. I just try to give them the best life that I can.”
Future generations affected
The genetic fault which has caused aHUS in Janette and her sister is not limited to their siblings, having also been inherited by children in the family. Without a cure, future generations will continue to be affected by the disease.
Janette says: “Both my boys carry the gene and that’s scary. I don’t want them to worry about what might happen, so I try to protect them from how living with kidney disease has caused me to feel. I want them to live their lives to the full without that anxiety.
“Unfortunately, my one-year-old nephew’s gene has already been triggered, and he is on the same treatment as me and my sister, albeit every three weeks. I’m desperate for researchers find even better ways to treat aHUS. That’s why I choose to play the Kidney Research UK lottery - to help make that change.
“The idea of no longer needing medication is exciting and could mean my tiredness and headaches stop, allowing me to resume a more normal life. If that happened, it would be really encouraging for my children’s future if they are affected by the gene.”
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