Article No 412
21 January 2021
The 19th January 2021 has passed and the aHUS Diagnosis Process Study Questionnaire has now stopped accepting new responses.
A big thank you to everyone who has participated. It has been tremendous response from the Global aHUS community.
Data has been supplied for 257 aHUS Patients. It is very rare for an aHUS research project to be about such a large number of aHUS patients from all parts of the world. Responses were received from all continents.
The data will now be analysed , it is going to take a while to do.
It is intended that the results will be written as a research article to be published. That will take work and even more time to do.
Whilst there are so many insights and lessons to be learned from the data , it is going to very interesting to see whether there has been any improvement in the diagnosis process timeline in the past decade.
Below is an extract from some previous qualitative research on the topic of diagnosis undertaken by an aHUS patient organisation nine years ago “The life experience of aHUS patients , their families and caregivers in England and Wales”
The extract relates to the participants’ views of their aHUS diagnosis. How different might they be now?
“2.1 Patient/ carer experiences of obtaining a diagnosis
The initial symptoms of aHUS in both children and adults are mild and similar to other minor ailments. They include headaches, sickness, diarrhoea, oedema and tiredness, symptoms also common to kidney failure. Babies become pale and distressed and stop feeding: urinary problems are sometimes indicated by ‘pink nappies’. The condition is therefore not immediately recognised by GPs and other more benign explanations are given, despite in some cases there being evidence of kidney disease in the family. Patients often report repeat visits to the doctors while symptoms persist, until the point at which their kidney failure becomes life threatening requiring hospitalisation. This happens within a very short timeframe (a few hours, days or weeks).
“I went to the doctors about five times over Christmas and New Year and they didn’t know what was wrong with me. They thought maybe glandular fever, then they said I might have got a dose of gastric flu…and eventually I got sent for some blood tests and then one morning I was really, really poorly…we phoned the doctor and he checked my blood results and at that point he was round in about 10 minutes and he told me that I’d got a problem with my kidneys and I needed to go to hospital.” (Patient)
“Initially she was diagnosed with baby anaemia…until six weeks later when I noticed her nappies were very little and she was really bloated and I said ‘This is not possible, she’s not eating, how come she’s putting on weight?’…I thought there must be something wrong with her kidneys… she was shiny and it looked like fluid on her legs, her legs were really big…I took her to the hospital and they took a blood sample. Then we went home and they called at nine at night to say it’s HUS and she must be admitted urgently.” (Parent)
“It was a case of not knowing really even though it was in my family.” (Patient)
One of the major concerns is that aHUS is not diagnosed quickly enough because it’s so rare. Failure to do so mean those patients can all too quickly end up with life-threatening kidney failure:
“I had done everything in my power – taking my son to the doctors repeatedly, taking along a sample of urine that looked like coca-cola. And the doctor didn’t pick up on it at all. I’d much rather they sent hundreds of kids for a blood test to catch one or two – because that time is so precious. In 48 hours my son was in kidney failure. But if we had picked it up straight away…” (Parent)
I remember one Doctor said to me “ We think you’ve got kidney failure but you are too young to have it so I think we are going to rule that one out” So I pointed out that my mum had kidney failure at 26 so it was not too young. I was transferred to HDU and put on dialysis and plasma exchange straight away. (Patient)
Patients are immediately sent to their local hospital. Once kidney failure is detected, affected children are sent by emergency ambulance to one of the children’s hospitals in the country with renal specialists. Adults are sent to the nearest renal unit. Immediate treatment is focused on restoring kidney function and treating the anaemia (See Section 3.1) although doctors are often unable to identify the underlying cause. Patients are usually tested for a range of other conditions. When these come back negative, the typical form of HUS is often suspected despite the unusual presentation, and tests carried out for a preceding gastrointestinal E. coli. infection.
“They tested me to see if I was pregnant and I wasn’t and they tested for HIV and I didn’t have HIV…they didn’t really know what was going on. They said…something like, we want it to be E-coli because we’ll know what to do and it came back that they didn’t know what it was, and that was the worst case scenario.” (Patient)
Parents who had lost a child with aHUS were told that their child had died from the typical form HUS. They were told it was rare and very unlikely to happen again and encouraged to have more children. It was only when subsequent children also became ill that the atypical form was diagnosed. One mother was pregnant with her third child when her second child was, like the first, affected by aHUS and an accurate diagnosis obtained. The doctors offered a termination at this point, but she refused as she was already five months pregnant. Her third child was unaffected.
Adult patients who have been given an initial diagnosis of HUS are informed that the condition is unlikely to reoccur and that their kidney function may come back. It is only when test results come back negative for E.coli, or the disease reoccurs or kidney function is not restored, that aHUS is diagnosed. It typically takes several months to receive a final diagnosis.
One patient was diagnosed in three weeks because by chance their senior house officer had recently worked with a registrar with an interest in aHUS.
Another had waited ten years between their initial illness and final confirmation of aHUS because they became ill some time before the aHUS gene was discovered. In recent years, once aHUS is suspected, genetic tests have been carried out to confirm the diagnosis and identify the individual’s mutation. However the gene mutation has not been identified in all affected families, so this is not possible for everyone diagnosed with the condition (See Section 3.6).
Many interviewees reported that this experience of incorrect and delayed diagnosis had ‘rocked their faith in the medical profession’ and they no longer felt the same confidence in their doctors.“
The 2021 aHUS Diagnosis Process Study will be about aHUS patients saying what their experience and perception has been with the aim of improving things for those yet to experience aHUS.
If meaningful awareness of aHUS is to result, it needs the patient voice to be heard in the open by those who can improve matters going forward.
One way “good will come“ is when the aHUS diagnosis moves closer to that “sweet spot” that patients envisage, where severe damage from an aHUS onset is limited or even avoided.