LONDON, July 3, 2014 /PRNewswire/ --
- Rare Disease Patients Urge People to Register as Organ Donors for National Transplant Week
Ahead of National Transplant Week, held from 7 - 13 July, patients from across the UK have come together to tell their stories and urge the public to become organ donors.
They suffer from a rare and life-threatening liver and kidney disease known as atypical Haemolytic Uraemic Syndrome (aHUS). The condition causes clots to form in blood vessels and can lead to kidney failure, stroke, heart attack and death. Without the right treatment, patients are at risk of developing fatal end-stage renal disease. If a suitable donor can be found and treatment with the drug eculizumab is guaranteed, patients have a strong chance of once again leading a normal life.
However, donors are in short supply and national access to eculizumab is still awaiting a decision from the National Institute of Clinical Excellence (NICE). Without eculizumab, a successful transplant is not possible. Only last year, during National Transplant Week 2013, the Clinical Priorities Advisory Group (CPAG) recommended the use eculizumab in treating aHUS patients. Until NICE makes its decision, many patients are left in limbo, fearful for their future should NICE not approve the drug.
Seven year-old Eva Dowling was only three months old when she was first diagnosed with aHUS. The disease meant that the little girl couldn't eat, drink or play with other children, spending days in hospital hooked up to a dialysis machine. However, after Eva began receiving eculizumab, her condition stabilised, allowing her to receive a kidney transplant. Eva's grandmother, Eileen Smith-Jones, soon discovered she was a perfect donor match for her granddaughter and donated a kidney in September 2013.
The right treatment, the right drug and the right donor have transformed Eva's life. She is now able to eat, drink and play just like other little girls and is now attending school full-time for the first time in her life.
Grief and abuse counsellor Shaun McCowie from Newcastle spent 25 years waiting for a transplant. Shaun lost several family members to aHUS, including his father and four brothers and sisters. He had to visit hospital for four hours at a time, three times a week to undergo dialysis. However, in April this year, Shaun learnt that he would finally receive eculizumab. Only an hour after receiving his first infusion, Shaun went into theatre to have his kidney transplant. Now recovering, he only has to visit hospital for a 40-minute infusion twice a month. Shaun looks forward to returning to work and enjoying the new lease of life the treatment has given him.
Emma Woodward, a 39 year-old schoolteacher from Knutsford, Cheshire, has been campaigning relentlessly to secure treatment for aHUS sufferers. Emma has suffered from aHUS for 17 years, and along with her dad Len is a trustee of the patient campaign group aHUSUK. Thanks to her treatment with eculizumab and a successful kidney transplant, Emma is finally recovering from years of illness and exhaustion.
"A living donor transplant to someone with aHUS is only possible if supported by eculizumab", Emma says. "If eculizumab were to be made available to all patients and more people registered as organ donors, more aHUS patients like Eva could see their lives transformed for the better."
"We are hoping that NICE will make the right decision to make this possible for everyone so that no-one needs to endure what Eva had to for so many years."
Atypical haemolytic uremic syndrome (aHUS) is a very rare, life-threatening disease affecting both children and adults. Research shows that in most cases that it is genetic in origin, with abnormalities in the innate immune system called complement.
These abnormalities lead to excessive activation of the complement system which can in turn lead to the development of blood clots in the filters of the kidney. Between 33 - 40% of patients diagnosed with aHUS will develop end-stage renal disease and permanent renal damage.
There are three main causes of aHUS; pregnancy, some cancers, HIV and other rare pneumonia diseases are also known triggers and some cases involve familial or genetic links.
About aHUS UK
aHUSUK, was formed on 10 September 2011 at a meeting at the Royal Society of Medicine, Wimpole Street in London. The meeting was arranged by Professor Tim Goodship of Newcastle University in response to strong feelings expressed by delegates, at the Newcastle aHUS Conference in June 2011, about the need for a patient and family support group.
aHUSUK is a non-incorporated charitable association run entirely by volunteers. Its trustees are either diagnosed with aHUS themselves or are closely related to someone who is.
aHUSUK's formal objectives are to:
- Help and support persons affected by aHUS, as well as their families and caregivers
- Advance the understanding and awareness of the public and the medical profession on the causes and treatment of aHUS
- Support the campaign for the drug Eculizumab to be made available for all patients in the UK who need it
SOURCE aHUS UK