Atypical HUS – a story of tragedy and triumph

“To watch people you love die is very hard to take”.  These are the simple yet poignant words of a man who has battled with the ultra-rare illness atypical haemolytic uraemic syndrome (aHUS) for around 30 years.  It causes sudden kidney failure and is rapidly fatal in at least a third of cases.  Those who survive usually need regular dialysis to stay alive.  Paul watched 6 family members die of aHUS, often in early childhood.  Having seen so much suffering, he is now the only surviving affected member.  He had to change his job, his hobbies and spend hours every week on dialysis.  He also had to cope with the realisation that he could never have a transplant as aHUS would quickly wipe out the new kidney.  Life seemed to be on hold and without hope.  Paul learned to be a survivor – with grim determination he learned how to dialyse himself overnight, gain control of his illness and make the best of his hopeless situation.

It was a tragic story like this which inspired Professor Goodship and his team in 1996 to find out why this was happening.  I was privileged enough to spend time as a researcher in his team and be a part of the aHUS community ever since.   Money for research was scarce and the answers came slowly but the word spread.  100 other families around the world had a similar story and the timing was right to find the answers.  By 2000, he found that many families with aHUS had a genetic “fault” which caused their immune system to malfunction and destroy their kidneys.  By 2006, he realised that a drug which was already in use for another illness was likely to work for aHUS.  A clinical trial of Soliris was soon underway across the world and the results were little short of miraculous.  New patients with aHUS were no longer needing dialysis but were being successfully treated with a fortnightly infusion into the vein.  Patients were being prevented from getting kidney damage.

This was one of the most exciting things to happen in the kidney world in a very long time!  But for Paul and many people I met along the way, it seemed frustrating – his kidneys were long gone and the treatment couldn’t change that.  Progress with drug approval and funding was painfully slow.  There was also a catch – Soliris costs £250,000 per patient per year for life.  Professor Goodship’s team and many aHUS sufferers lobbied parliament for funding for Soliris in the UK.  In November 2014, after much consultation with patients, carers and doctors, NICE (National Institute for Clinical Excellence) approved funding for Soliris in the UK.  This means that every patient who would benefit from this exciting treatment will be able to receive it.

In addition, people like Paul can receive Soliris to allow them to have a successful kidney transplant.  One of our local aHUS heroes had a successful transplant in Manchester in December 2013 and has been an inspiration to others.  Several other patients in Manchester are now on the kidney transplant list for the first time.  Around 50 aHUS sufferers in the UK now have hope of a transplant and a better life for the first time in years.  For new patients developing the illness for the first time, I hope that they will never need dialysis or a transplant.  In the words of my favourite film, The Shawshank Redemption: “Hope is a great thing, maybe the best of things”.

Dr Rosie Donne
Consultant in Renal Medicine

One thought on “Atypical HUS – a story of tragedy and triumph”

  • Good luck on you getting that transplant Paul. My life has changed dramatically due to all the hard work that Professor Goodship and his team has made plus all the campaigning for the drug Eculizumab everyone took part in.

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