If asked by health policy decision makers, and with a 500 words limit, how would you answer the question “how does aHUS affect the lives of people living with it ?”.
aHUS alliance Global Action’s first attempt resulted in a reply of just over 900 words. So it had to be reduced. Although confidential at the time of the policy evaluation here is a copy of the result. (What Global Action’s first wanted to say follows it!) .
“Untreated, aHUS patients will not survive. Death results from lung and heart failure following kidney failure.
Living with aHUS means living with chronic renal disease, including end stage renal failure for some.
“it’s living with kidney failure. I don’t live with aHUS, because I only got it twice, when it first happened and when it came back in the transplant – those are the only two episodes that I’ve ever experienced.” (Patient)
“We felt out of control, the control of our lives seemed to have been taken away by it.” (Patient)
When kidneys fail toxins and excess fluid build-up in the body and renal replacement therapy is needed i.e. Haemodialyis, involves four, or more, hours attached to a dialysis machine three times or more every week , or peritoneal dialysis, which involves multiple exchanges ( usually four ) of fluid via a permanently inserted catheter into the peritoneum every day.
A transplant is rarely attempted as without a complement inhibitor another episode of aHUS could trigger and destroy the graft.
“You see people going for transplant and it works.….and you are thinking you cannot have that…”(Patient)
At best dialysis achieves 15% of normal kidney function, so life on dialysis can be torturous. A severely restricted diet and strictly limited fluid intake limit ( 500ml or less) from all sources (water, tea, coffee, milk, yoghurt, soup, gravy etc.). Sometimes patients may only be able to suck an ice cube.
The deficit in kidney function impacts on almost every part of the body. The heart is enlarged because more fluid in the body must be pumped and risks heart failure. Heart by-pass surgery may be needed. Bones age quicker. Nerves, skin, liver, and lungs are affected adversely. Long term sexual dysfunction is also common. Peritoneal dialysis risks life threatening peritonitis and intestine encapsulation requiring major abdominal surgery.
.”After fourteen years it does take its toll, it is bound to take its toll on your body “. (Patient)
Life spans of dialysis patients are much shorter and their quality of life is poor.
Dialysis impacts on carers. Often family life revolves around the patients. Accompanying visits to the dialysis centre takes up time. Increased time is spent on cooking because of additional precautions and arrangements for patients diet. Outings and holidays typically reduce and often the whole family becomes quite overwhelmed by disease. It can impact on carers’ employment.
“The main thing about dialysis is the lack of freedom, and the things that people take for granted…Trying to plan things is a nightmare because I don’t know how I’ll be feeling. I don’t know where I will be in 2 weeks’ time because I could change things around or swap things over. You can’t ever be spontaneous…” (Patient)
“I come in from work about 6 – 7 and the first thing I have to do is set up the machine, I finish that by 8… then you obviously have to connect her. So this is it. This is my evening… For me it’s a constant, constant rush. It’s just a daily struggle to cope with everything. And it’s the other things like deliveries, and you have to order the medicine, and cleaning, and check-ups.” (Parent)
For aHUS patients who access eculizumab treatment timely chronic kidney failure can be avoided. Infusions every two weeks is a lesser treatment burden than dialysis.
Some patients can go into an untreated remission , without eculizumab or plasma exchange, dependent on having low-risk genetic susceptibility and the absence of triggering factor e.g., transplant. Remission may be life-long, or, for long lasting but intermittent intervals.
Having no need for treatment greatly enhances their quality of life, tempered only by an anxiety of aHUS recurrence.
For those who cannot go into a lasting remission and who still need complement inhibition, something that would extend the interval between infusions would make living with aHUS freer and easier.”
Global Actions original draft.
“Untreated patients are unlikely to live through a catastrophic episode of aHUS. They will die from lung and heart failure caused by kidney failure. Living with aHUS therefore is about living with the consequences of the severity and length of the encounter before receiving a diagnosis and treatment. For many the consequence will mean living with end stage renal failure.
Kidney failure means loss of kidney function and ability to filter out the toxins and excess fluid from their bodies causing a dangerous build-up of these substances resulting in shortness of breath, nausea, fatigue and uncontrolled itching. Patient can die in a few days.
Patients are typically put on some form of Renal Replacement Therapy like Haemodialysis or Peritoneal Dialysis. A kidney transplant is rarely attempted as there is a high chance of recurrence in most variants of the disease. The patients are thus, condemned to a life on dialysis until a complement inhibitor becomes available.
Life on dialysis can be torturous for most people. Patients are put on a severely restricted diet. They also need to strictly limit their intake of all fluids (water, tea, coffee, milk, yoghurt, soup, gravy etc.) to a prescribed amount (usually one litre or less).
Peritoneal dialysis involves the exchange of fluid by the means of a permanently inserted catheter into the peritoneum. Usually there are four self-administered exchanges each, and every day, to remove toxins and hopefully more fluid. Great care over cleanliness and hygiene is essential because a common side effect of treatment is peritonitis. In the long term a life-threatening condition of sclerosing peritonitis encapsulating the intestines can occur, requiring major abdominal surgery.
Alternatively, they may need to endure gruelling four, or more, hour haemodialysis for at least three times a week. This requires large needles to be inserted into their arm so that their blood can pass through a dialysis machine that partially does the work of their kidneys. It is estimated that even 12 hours of this treatment every week only approaches about 15% of the function of healthy kidneys.
This partial clearance by artificial means impacts on almost every part of the body. The heart is the most severely affected with the increased fluid in the body which it must pump causing it to enlarge and potentially causing it to fail. Heart by-pass surgery may be needed. The bones are also affected over time with estimates stating that every year on dialysis causes the bones to effectively age by a decade. Some patients also have their nerves, skin, liver, and lungs affected adversely. Sexual dysfunction is also common among long term dialysis patients.
Carers are also affected. Often the family’s life revolves around the patients. From preparing for the almost every other day visit to the dialysis centre, to accompanying patients, a lot of the time of at least one family member gets taken up by the treatment. Time spent in cooking also increases as additional precautions and arrangements need to be made for the patient. Outings typically reduce and often the whole family becomes quite overwhelmed by disease.
The patient and the carers have a difficult life. Apart from the problems in the regular dialysis treatments and the accompanying diet and fluid restrictions, the long-term effects are dangerous. Life spans of dialysis patients are much shorter and even while they are alive, they have a poor quality of life.
For those who can access a complement inhibitor like eculizumab the consequences fall short of end stage renal failure and in ascending levels up to normal kidney function. Life for those with aHUS is about accommodating on-going treatment whilst getting on with day to day life. Usually this means a two-week interval between infusions of eculizumab.
Fatigue is an important and often cited consequence of aHUS felt by aHUS patients. It can in time reduce to levels experienced by the general population and impact less on a patients lives. Over a third of aHUS patients experience a lasting anxiety because of fear of a recurrence. That anxiety is also shared by carers.
In time, patients’ health improves, 90% of aHUS patients consider their general health to be good to excellent.
For those on eculizumab, including those with a kidney transplant, lives are constrained by the bi-weekly infusion treatment interval, and other treatments dependent on various sequalae. But less burdensome than being on dialysis. It impacts less on parents, carers, and other family members too.
aHUS patients would have a lifestyle which would be taken for granted by most. Around two thirds of aHUS patients are economically, educationally, and otherwise occupied. Few would regard themselves as disabled or unemployed because of aHUS. The remainder may be unemployed for other reasons or, and in increasing numbers, enjoying a life of retirement. aHUS patients would be able to have and raise children with a routine and settled family life. Careers can be developed, and other ambitions and goals achieved within an expected normal life span. A life of meaning and well-being.
Some of them go into an untreated remission dependent on having low-risk genetic susceptibility and absence of triggering factor e.g., transplant, without eculizumab or plasma exchange therapy. Remission may be life-long or for long lasting intermittent intervals. Having no need for treatment enhances their quality of life, tempered only by an anxiety of aHUS recurrence.
For those who cannot go into a lasting remission and who still need complement inhibition, something that would extend the interval between infusions would make living with aHUS freer and easier”
Article No. 470