Submission by aHUSUK to CPAG June 2013
Introduction
As the patient support group for aHUS patients, aHUSUK requests that eculizumab be commissioned
nationally for the treatment of all aHUS patients in England who need it, including those on long
term dialysis who need it in conjunction with a kidney transplant, to allow all patients the chance of
a normal life. We also request that the Newcastle upon Tyne NHS Hospital Foundation Trust be
designated an expert centre to provide care for these patients, employing shared care where
possible, supported by telemedicine.
In this submission we make the patients’ case. It is based largely on the evidence we presented to
AGNSS on 14 June 2012 in a patient impact statement entitled “Eculizumab for atypical haemolytic
uraemic syndrome”. This contained intimate accounts from 14 adults who had been personally
affected by aHUS as patients, parents, partners or family members. They were interviewed over 2
months in early 2012 by consultants appointed by NHS.
The accounts included those of parents who had lost children to multi-organ failure, patients who
have been on dialysis for decades and who have experienced recurrence in one or more transplants,
family members who have seen several generations affected and patients diagnosed recently and
given eculizumab early enough to prevent kidney failure. Each account is unique but they show
startling similarities.
Diagnosis and access to treatment and information
aHUS can strike either gender at any age. All patients and parents reported degrees of difficulty in
getting an accurate diagnosis, obtaining access to treatment and finding information about the
disease. Because initial symptoms are mild and similar to other ailments, many patients and parents
said that repeated visits to the GP with persistent symptoms were necessary before they were
referred to a local hospital. There, despite extensive testing, misdiagnosis was common. Confusion
with typical HUS, a curable condition arising from e-coli bacteria, was frequent. When kidney failure
became apparent patients were referred to an adult or paediatric renal unit but only at one of those
few units with specialists familiar with aHUS was early correct diagnosis assured. Otherwise delays of
up to 3 months from first presentation were reported. One patient waited 10 years before the
disease was properly identified. The early weeks are critical. Delays increase the risk of irrecoverable
kidney damage.
Treatments and their effects
The acute phase of an aHUS attack is life threatening and all patients and carers said these were
traumatic. In both adults and children acute attacks came “out of the blue” and required hospital
care for long periods, typically between 2 – 20 weeks. Dialysis patients experienced respiratory and
heart failure requiring lengthy high dependency or intensive care stays.
In recent years plasma exchange (PEX), the replacement of the body’s blood plasma in one session,
has been the standard pre-dialysis treatment for adults and children. It is not pleasant. Patients told
about daily treatment sessions lasting hours and side effects and risks as follows:






Oedema causing shortness of breath and mobility problems ,
hives, allergic reactions and anaphylactic shock,
hypotension,
fatigue,
nausea,
Inconvenience and risk of fixed lines becoming dislodged or causing infection.
Although there were reports of some patients going into temporary remission, when PEX failed, as it
often did in the longer term, dialysis was the only option.
Dialysis is required when kidney function is lost. It is a replacement therapy and not a complete
substitute for a functioning kidney. Patients are subjected to a strict diet and fluid restrictions of 500
ml a day. Dialysis can be done in hospital or at home. Many patients resigned to a lifetime of dialysis
prefer the flexibility of being able to dialyse at home; but that requires space, equipment and
training in its use. All patients found treatment a huge burden. They reported the physical and
mental effects as follows.




















Requirement for operations to create access points for treatment and surgery to maintain
effective fistulas and avoid catastrophic bursts, but knowing that these access points are
finite;
Risk of tesio line in jugular vein becoming infected, splitting or becoming detached;
Those dialysing with a fistula having to place two large and sharp needles into their own
arm;
CAPD dialysis requires a permanent catheter into the abdomen, which results in scarring and
body image issues
Having to cope with technical faults/power cut/water supply issues in the equipment in mid
treatment on home dialysis ( with the risk of losing 400ml of blood volume)
Constant vigilance required to spot infection and possible air entry into lines
On CAPD it is inconvenient and tying to exchange dialysis fluid every four hours every day
Extremely low blood pressure causing patients to 'crash ‘and lose consciousness during
treatment
High blood pressure causing seizures and migraine headaches
Cramps, nausea, faintness and/or headaches during and following a dialysis session
Fatigue due to anaemia and requiring blood transfusions or self injection of EPO
Fear of fluid overload causing respiratory failure and drowning in your own body
Fear of potassium levels so high they can cause a heart attack
Greater risk of heart and blood vessel disease including strokes and fluid around the heart
Steal syndrome associated with fistulas causing pain and requiring surgery
Losing hair because of blood thinning drugs required for dialysis
Episodes of extremely painful and life threatening peritonitis
CAPD treatment causing encapsulating Sclerosing peritonitis which requires major
abdominal surgery and on-going treatment which can cause ovarian cysts
Anxiety and depression resulting in need for counselling and medication
Body image problems resulting from scarring and from unsightly fistulas and from weight
gain and loss from treatment









Parathyroid problems
Pulmonary Hypertension
Carpal tunnel syndrome
Gall stones and gall bladder removal
Renal bone disease causing joint pain and need for hip replacements
Restless legs syndrome
Dry and extremely itchy skin
Impaired cognitive function
Coping with aftermath of miscarriage and premature births during episode of aHUS
All dialysis patients reported the unrelenting and punitive nature of treatment. Through birthdays,
Christmas and holidays, treatment goes on. Social lives are extremely restricted, so too is any
spontaneity. Leaving home for more than two days requires planning and organisation to get dialysis
booked elsewhere. Relationships are difficult to maintain and the reliance on carers puts a strain on
relationships. Patients reported low self esteem and their fear of dying from complications of
treatment. Limited ability to work or progress in careers results in loss of earning and wealth. Worst
of all is the loss of basic freedoms that others take for granted such as drinking a glass of water or
even eating a banana.
All aHUS patients, particularly those on long term dialysis, reported irregular care pathways in local
renal units. Understanding of this disease among clinicians is patchy and inter-centre variations have
marginalised patients for long periods. A national expert centre will bring consistent bespoke care
and ensure that no patient is forgotten.
The effect of the disease on children and their parents
Parents told about the shock of the initial episode and the feelings of helplessness and isolation.
Most said their children coped well but several said that the need for repeated access to veins was
upsetting for children, even inducing needle phobias and anxiety about hospitals and doctors. Of
course children on dialysis are subject to the same diet and fluid intake restraints as adults as well as
the risks associated with treatment. Other impacts on daily life included loss of schooling, sometimes
for long periods, parents struggling to achieve a balance between their working and caring roles,
relationships with siblings suffering because of imbalance of attention.
Living with a genetic disease
To be struck with a debilitating, progressive, life- threatening, ultra- rare disease is bad enough but
to find that it is largely genetic in origin and may be inherited makes it worse. Patients reported
dilemmas about genetic testing for the mutation, about anxieties within families as to who else may
carry the mutation and how that might affect their lives. They told of strains imposed on family
members knowing they could have an episode at any time and the poor treatment options available.
Eculizumab
The contrast between the experiences of patients on the other treatments and those receiving
eculizumab could not be more pronounced. The handful of adult patients receiving the drug in
England is either taking part in clinical trials or has made successful Individual Funding Requests.
From their first fortnightly infusion they reported an arresting of decline, and in some cases
significant recovery, of kidney function, a feeling of improved wellbeing and an absence of side
effects from the treatment. In just a few weeks they reported that their condition had improved to
the extent that they had returned to normal life. Parents reported immediate and continued
improvement in their children's condition, saying that they returned very quickly to normal
childhood.
A normal life is all that we ask, for all aHUS patients.
Ian Mackersie (Secretary)
Emma Woodward (Trustee for Patients’ Voice)
aHUSUK
9 6 2013