Evenyone counts - even people with aHUS?

The planning guidance for the NHS in  2013/14  is called “Everyone Counts“.  It sets out  ambitions to deliver on the NHS constitution and focuses on outcomes  rather than process measures using the five sections of the NHS outcomes framework – reducing premature mortality, improving long term conditions, enhancing recovery from acute illness, patient experience and safety.  To quote from the opening paragraph   “The Challenge facing the NHS is to become truly patient-centred, where patients participate in designing services and are able to exercise choice as customers, whilst seeking always to ensure that no community or part of a community gets left behind“.

Well I hope that people with atypical haemolytic uraemic syndrome (aHUS ) count.  Largely genetic in origin, aHUS is a rare, progressive, life-threatening and incurable complement disorder which affects mainly the kidneys.  It occurs when a faulty gene, known as a mutation, is triggered, often by an external factor, which causes uncontrolled over-activation of the complement system. Complement is a normally well controlled feature of the body’s immune system whereby certain proteins actively counter bacterial and viral infections in the blood by restoring damaged cells and clearing debris. But when the complement system acts in an uncontrolled fashion, it damages rather than restores the red blood cells. This restricts their ability to pass through the small blood vessels in the kidneys which causes blockage and inflammation. Unchecked, this may lead to kidney failure.

I am not sure the public or indeed our policy makers appreciate the impact of kidney failure on individuals and families . A year or two ago  I found myself chatting to a single mum about the same age as my daughter. She had never been on holiday with her 8 year old daughter! NEVER! The young lady had developed  aHUS shortly after her pregnancy and was on dialysis.  She had a sister who wanted to donate a kidney but  she couldn’t be transplanted because of the high risk that the aHUS would recur in the transplant . Being “stuck” on hospital dialysis as she put it meant she was unable to get away for a break – ever! Her sister did take her niece,  the daughter,  away with her own family and the patient explained that seeing the photos gave her great enjoyment.  The story just came out in conversation as we were queuing for lunch . The young lady didn’t make a big deal of it but I was left feeling very sad that she hadn’t yet experienced that fun part of being a parent and seeing your children paddle in the sea or race you along the sand . I was also in two minds whether or not to speak about eculizumab a new drug that has been recently found to practically “work miracles” in aHUS by restoring the balance of complement in the kidney and preventing kidney damage occurring because it wasn’t yet generally available on the NHS and was still awaiting some final trials before gaining approval as a first line treatment for aHUS.  It crossed my mind at the lunch counter that I didn’t want to raise hopes unnecessarily but we did have that conversation because I felt the data that the Newcastle research team, who have been researching aHUS for quite some time,  had presented at the Renal Association meeting some weeks before was so completing and was pretty sure that the FDA in the USA and the European Medicines agency would soon approve the treatment.

Well the authorities have now approved the drug but unfortunately we do seem to be dragging our feet in making it available to the few patients and families who could benefit.  The disease is ultra-rare, at the last count in 2010 affecting about 170 people in UK, of whom 140 are thought to be in England. Some 10-15 new cases present each year in UK.  There are about 50 patients like the lady I was chatting to, people who are locked into lifelong dialysis who will never receive a transplant until eculizumab can be used to protect their new kidney .

The aHUS patient support group and the wider kidney community had been hoping the drug would be available from January this year but the  Department of Health ducked the issue deciding instead  to defer national funding and refer the case to NICE for further consideration of the affordability before reporting to the new commissioning board that is now called NHS England.  Well I hope that NHS England does not let the kidney community  “get left behind “  to quote the new planning guidance . The evidence for benefit is clear, yes the costs are high but the benefits are  truly life changing for people and families with aHUS . If we, the system, get our act together its quite a reasonable aspiration to expect a successful live donor transplant for the lady I met and a holiday in the sun (wearing sun block of course) shortly thereafter. One could also wonder “how come she hasn’t been able to get away for a break or a holiday while on dialysis“  but that’s another even longer running story that for  now I will leave for another day .