atypical hemolytic uremic syndrome: what it feels like
10 minute read
michael with his wife margriet in a recent photo.
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atypical hemolytic uremic syndrome (ahus) is a genetic disorder in which blood clots form in the blood vessels of the kidneys, according to the genetic and rare disease information centre. these clots restrict blood flow throughout the kidneys and can result in serious complications such as hemolytic anemia and kidney failure. ahus is estimated to affect 0.11-2 individuals per 1 million.
michael eygenraam, a husband and father of two, was just 37 when he began to experience symptoms like vomiting and yellowing of his eyes and skin. because ahus is so rare, he was initially misdiagnosed with a blood disorder, resulting in various complications — including a failed kidney transplant.
michael was correctly diagnosed with ahus in 2010. he then joined the ahus patient group and successfully lobbied the ontario government for patient access to a new medication that makes kidney transplants possible in ahus patients.
what were the clues that something was wrong?
my understanding is that i have a known genetic defect, which only makes me susceptible to acquiring the disease, but it doesn’t mean that i will get it. some combination of your environment and genetics allow it to occur.
just before christmas 2002, i started developed flu-like symptoms. at that time, i was 37, i had no health issues. i also had no idea that i had a genetic defect. life was very normal, i had a wife and two young children at the time aged two and five.
the norwalk virus was going around. so [even though] my flu was much worse than normal, i attributed it to that and figured it would clear up. but it didn’t, and my wife, margriet, was concerned. then i noticed my urine was dark-coloured, like a tea colour. she noticed that the whites of my eyes were slightly yellow, which is jaundice or a sign of some sort of liver dysfunction. she wanted me to go to the doctor [but i didn’t want to go] because typically you have to wait for up to an hour in a waiting room with other people around. when you have the flu, that’s not something that anyone really looks forward to doing.
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when i finally agreed to go, i didn’t have to actually wait that long. when [the doctor] saw me he immediately said, ‘you need to go directly to emergency, i can’t help you with this from a doctor’s office’.
[the hospital] kept me overnight and put me on iv fluids, but my kidneys weren’t functioning at that point and i was not producing enough urine to get rid of all the fluids i was taking in.
it was, obviously, not a good christmas day. not a good new year’s. it was horrible just going through it because i’ve never been hospitalized before. i didn’t know if it would be something i’d recover from or whether it would be something that would be a chronic problem. i was in the hospital for six weeks.
[eventually] it got to the point where i could go home, but i continued at the hospital as an outpatient for plasma exchanges.
[michael was initially misdiagnosed with thrombotic thrombocytopenic purpura (ttp), a rare blood disorder that can lead to kidney and other organ damage. treatment includes plasma exchanges, where the patient’s blood plasma is replaced with a donor’s.]
i started getting better in the late winter, and by spring, i felt well enough to try going to work again part time. but, by june of 2003, i started feeling unwell again.
by the end of that month my kidneys had completely failed. there was no slow progression of kidney failure, it was just like suddenly, bam. from one week to the next, i went from having function to absolutely nothing.
i went on dialysis to see if my kidneys would recover or not. the prospect of being on dialysis for the rest of my life or needing a kidney transplant was scary. it was also just really devastating to know that this was not over.
my blood pressure also went through the roof and i was taking multiple types of blood pressure medication to control it, but it still was out of control. the doctors were baffled. apparently, if i had ttp, the way i was reacting to therapy was not normal. of course, looking back, that’s the clue that it wasn’t ttp.
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a kidney transplant was the next step?
yes, i had a kidney transplant in 2006. margriet convinced me that we should check if she was a match. i was scared because we have a young family and the last thing we needed is to have both parents having medical trouble. eventually i realized if we didn’t try something, then it was going to be really horrible. it turned out she was a match and we ended up going through with the transplant.
we were both very optimistic, i was feeling good going into surgery. it went smoothly and margriet also recovered well. but after a transplant, you need anti-rejection drugs since there’s a foreign organ in your body. i had to take three different drugs for anti-rejection.
the first two [drugs] were fine and i was able to function really well. i started to feel better — i was still in the hospital, but recovering. then they gave me the last drug, which couldn’t be avoided in order to prevent my body from rejecting the new kidney. but, unfortunately, that third drug caused a relapse.
[michael again had to receive plasma exchanges and various other treatments in an attempt to save the transplanted kidney. in 2008, he and his medical team gave up on the transplant and resumed dialysis. the transplanted kidney was removed in 2009. in 2010, further testing revealed that michael actually has ahus and not tpp]
looking back, now that i know my proper diagnosis, there was probably less than a 50 per cent chance the surgery would have gone smoothly. it’s really hard emotionally to think about that — the we could have avoided it and that margriet didn’t have to go through surgery. it brings us to tears if we think about it, because it seems like a big waste. now there’s a drug available for me that would actually prevent a relapse and protect the new kidney. if we hadn’t tried before, my wife would have been able to donate her kidney and it would actually work. but now she can’t do that anymore, because she’s already donated.
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it sounds like this new medication is a game-changer.
at the beginning of 2013, health canada approved eculizumab (solaris) for the treatment of ahus. we were very optimistic, after all, this drug by all accounts was well tolerated by patients and had very few side effects. of course, there are some, but it’s nothing like having a massive disease. it was safe to use and effective at keeping the disease from getting out of control. it felt almost like a miracle to have something like it available.
but then we found out that it was one of the most, if not the most, expensive drug in the world.
all provinces in canada, except for quebec, refused to fund it for patients. so, here we were, there was a treatment to control the disease, but it wasn’t available because of the price. it didn’t help that there was a report by health canada saying there wasn’t enough proof the drug was effective, but that was really only based on the fact that there are so few patients with ahus.
we decided to try to fix that problem by lobbying the government to show that even though the data wasn’t exactly what they wanted, it was still good data. i mean, if you got 1,000 patients and 950 of them respond really well to a treatment versus 100 patients and 95 of them respond well, yes, the 1,000 and 950 is better data. but it can’t just negate the lesser data — it still was in our mind clear enough that this was a really good drug.
were you successful getting the drug approved?
the drug is now available [for ahus patients who are receiving a kidney transplant]. now there’s a chance to have a kidney transplant in the future. i’m looking forward to that day when the call comes in and i can have a new kidney that will be protected by this drug.
we’re still not exactly where we want to be. there’s always the fear from the province that if it gives the decision making powers to doctors, then a doctor might over-prescribe, or be influenced by a patient’s pleading, and then an expensive drug will be wasted on someone who doesn’t need it. this means that there’s very strict criteria in order to receive this drug.
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we feel that if the doctor thinks someone needs this treatment for another six months or a year, and if they have strong scientific information that backs up their opinion, who is the province to then say no?
what does life look like while you wait for a kidney?
i do dialysis at home, as opposed to traditional hemodialysis. margriet and i were trained on how to do home dialysis at the hospital. it can be healthier for the body than traditional hemodialysis which requires the patient to go to the hospital three times a week, for four hours at a time — that’s only 12 hours of dialysis in a whole week. but i’m doing five nights a week, eight hours of dialysis at a time — that’s 40 hours.
there’s a machine sitting beside my bed with water lines hooked up to it, as well as a reverse osmosis machine in my closet that purifies the water that goes into the dialysis chain. it’s quite awful, ugly looking — it’s like something between a bedroom and a hospital room.
the actual dialysis happens during my sleep. [a tube in one arm carries blood into the dialysis machine to be cleaned and is then returned by a second tube into the other arm.] i sleep with two plastic lines connected to two needles in my arm — it’s hard to get to used to this feeling. i’ve heard that some people have no issue at all, but there are days where i find it extremely painful. the needles are basically the diameter of a toothpick that i have to shove into my arm.
how has dialysis changed your life?
there are all kinds of checks and balances within the machine. it’s monitoring blood pressure, and other things to keep me safe while i’m sleeping. but i do feel like my life hangs in the balance every night.
dialysis is a huge burden. five nights a week i can’t travel anywhere because i have to be home for dialysis. i can go away at maximum two nights a week. margriet has family in europe and she is reluctant to leave me alone. so, even for herself, being healthy, she can’t travel like she wants to. i haven’t been back there to visit family there for more than 20 years — it’s a huge disruption.
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how do you cope?
i don’t know. it’s like anybody that goes through trauma, i think the adrenaline is there on purpose to help you get through. you’re faced with this thing that you have to deal with. you can’t just ignore it — you do what you have to do.
it is tough, but at the same time, i think lots of people go through even worse. i try to look at it in a positive way — i’m still alive and getting better every day.
margriet, of course, was very concerned and stressed. i agree that when someone goes through a really difficult medical problem, where they need a lot of therapy and hospitalization, it’s typically more emotionally traumatic for the caregiver than the patient. the patient may be going through more physically, but the caregiver is dealing with a lot more emotionally. they feel helpless — they rely on the doctors.
we had a lot of support from our friends and family — this really helped us get through. we had lots of doctors’ appointments and we often left the kids at someone’s home so that margriet to join me. thank goodness we had people who were willing to help us with things like meals.
our faith in god also helped because we knew that no matter what was going on, as bad as it would ever be, we knew that he was watching over us. and not that that meant there was going to be a solution, but just knowing that someone is in control was helpful to manage the trauma going on in my body.
there’s hope in my story, too, for the future. people who are newly diagnosed with ahus now can get on this drug immediately, which restores their kidney function, and they can go back to a pretty normal life.
we feel like we’ve accomplished a lot. we have an incredible sense of satisfaction, knowing that so many people can now live much better.
more information on atypical hemolytic uremic syndrome, patient resources, and how you can provide support is available at ahus canada.
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