Article No 390
1 November 2020
All aHUS patients at some point have been told they have got aHUS. It is their diagnosis. All aHUS patients will have experienced a personal journey to get that diagnosis.
An aHUS diagnosis can be hard to come by.
It can be difficult for doctors to identify aHUS in patients who are ill with it. It could be other things. Or doctors may only recognise parts of an aHUS episode.
Not all patients present in the same way, nor is it simple for patients to realise that all is not well with them when the diseases begins, when it is just smouldering. They may even already be in a hospital being treated for another condition when it strikes them.
But whatever route the journey may take, it is only the patient who is travelling along it all the way.. And only they see things from their perspective and perhaps wonder why it all has to be that way.
Last year on aHUS Awareness Day aHUS Global Action featured a video about aHUS Research which included the story of an aHUS patient.
She was working with horses as a farrier, very heavy and demanding work.
One day, when on a training course away from home, she noticed she was unwell so she went to the Accident & Emergency (ER) Department at the nearest hospital to the training college.
She had realised her symptoms were possibly signs of an episode of aHUS . She knew she might be susceptible to aHUS. It had happened to other members of her family. Her family had distributed an aHUS alert card (see below),to all members of the family whether they had been genetically screened for aHUS or not.
Alert card held by those who may be susceptible to aHUS produced by the National aHUS patient advocacy group
She showed the A&E doctor the card. After the simple tests recommended were done, her home town hospital was contacted. The specialist who had treated her relatives confirmed it could be the onset of aHUS. In turn the specialist alerted the national aHUS centre who approved a prescription for eculizumab for her.
She received her first dose of eculizumab that day.
She recovered fully and in very good health. She is back to swinging heavy hammers on horseshoes and carrying weighty anvils in her strenuous job..
Contrast her experience with that of another aHUS patient. In his 20s. He was well too and very fit. Again working in a strenuous job. He enjoyed walking, often walking all day with a loaded rucksack on his back. It took him sometime to realise but he noticed he was getting out of breath quicker than he usually did when exercising, but he did not think he was ill.
One day after walking for twenty miles he began to cough up pinkish phlegm and so decided to see a doctor, although he still did not feel unwell. He thought he might be starting with a chest cold.His doctor tested his blood, heart and reflexes and with the results told him he actually had a mini heart attack and that his kidneys were not working properly. He also had very high blood pressure along with a strep throat infection, pneumonia and bronchitis as well as inflammation of the tissues surrounding his heart -pericarditis. He was taken to the hospital where he spent three weeks recovering before being sent home.
After two weeks at home he had stopped urinating as his kidney problem got worse and his body was swelling. He returned to his doctor who sent him immediately to the ER because his test results were so bad. The ER referred him back to the hospital he had already been to, but they could not figure out what was wrong with him so referred him to a specialist centre in another city.
He now was on dialysis because of his kidney failure. He still had a persistent high temperature and pneumonia. He even acquired a C. Diff infection. His blood pressure remained high despite the medications he was given. His was tested regularly , 20 capsules of blood a day we’re drawn, but the clinicians could not figure out what was wrong with him. This went on for six months and then the clinicians thought it might be TTP. He did not know why, but a month later the diagnosis was changed to aHUS.
By then he had lost 40 pounds in weight, could walk no more 30 yards and his heart was failing and he was not expected to live more than a few weeks.
A month after his aHUS diagnosis he received eculizumab. He got better but needed a kidney transplant. This he got, supported by eculizumab and subsequently ravulizumab . His health and fitness began to return but he had to change his job.
It had taken him thirty four weeks from him not feeling OK to him being told “You’ve got aHUS” and another 4 weeks to get access to eculizumab. He visited four medical care centres and saw numerous clinicians in that time.
It is not clear what his aHUS was masquerading as, but all his doctors struggled to unmask it, despite their best efforts ,and him being so close to death. But it was eventually. The renal and the TMA dots were joined, first as TTP, then aHUS.
Other aHUS patients will have had different journeys in which their diagnosis process faced barriers, or facilitating events like family history of aHUS awareness, before being told they had aHUS. There is a wealth of experience around the aHUS community to give a comprehensive patient perspective of how an aHUS diagnosis is won.
aHUS alliance Global Action thinks it’s about time that the collective experience was captured and used to inform those who need to know. More about what Global Action plans for an aHUS Patients community collaboration will appear on the website in the coming weeks.
It could not be said that having aHUS is the best of times, it certainly will challenge for being the worst of times, But best of times can return with treatment and time and for that a diagnosis is essential.