During the alliance’s series of articles late last year about the renaming of aHUS we received a mail from an aHUS patient in Sweden , from Magnus Ramstrom, pointing out that his aHUS did not seem to appear in the new TMA classifications. The cause of his aHUS was not due to predisposing genetic mutations in Complement but due to something called Monoclonal Gammopathy of Undetermined Significance, which not many people know about.
Magnus has written an account of his experience of getting an aHUS diagnosis and his need for self advocacy to get access to the complement inhibitor eculizumab.
“I’m a 53 years old Swede, living in Stockholm, who developed a TMA
four years ago, most likely as a side-effect of having MGUS (Monoclonal
gammopathy of undetermined significance – a malfunction in the complement
system that can lead to the cancer Multiple myeloma).
I want to gather my thoughts on these last years by sharing my story.
During a long period, I was slowly getting weaker without any explanation
which was quite frustrating. When I finally was diagnosed with aHUS I
actually felt a kind of relief, finally having a diagnosis.
Being able to put a name on the sickness, even if there are still many
question marks (for instance exactly how MGUS causes aHUS), somehow made
it feel more controllable. It made it easier to talk about it and it gave
both me and the doctors something to search for. I have also noticed that
it is important for the medical bureaucracy to have a label, and thus,
indirectly, the label is important for anyone who advocates for patients.
Back then, there was only one medical article that talked about the
connection between MGUS and aHUS. I had the double luck of being supervised
for MGUS (often it goes undetected, but I had been tested since my mother
had it as well) and having a hematologist who managed to find this one
article and made sure that I was tested for TMA. That was an amazing feat
that I am sure many doctors would not have been able to perform, simply
because there was so little known.
In fact, earlier on, my problems had been attributed to aging. So, I have
come to believe that acquiring and spreading knowledge is essential.
aHUS has the bad combination of being a disease that must be diagnosed
and treated quickly while most doctors don’t have sufficient knowledge
about it. Especially as it exists in many different versions that require
even more specialized knowledge.
So, for the sake of those who have not yet been diagnosed it is important
that the doctors learn more, for those recently diagnosed it is important
that there is knowledge easily available so that they can discuss with
their doctors and for us living with the sickness, it is important that
new knowledge quickly affects policies.
For example, against official policy, my doctor believed that Soliris could
have helped me in the period before the MGUS was under control. Back then
the Swedish bureaucracy believed that Soliris always had to be given for
life, and thus it was systematically refused as being too expensive.
Nowadays it is decided on a case-by-case basis. There is some reason to believe that
a short treatment with Soliris could have helped to shorten the time that my
kidneys deteriorated, so I suspect that also in this regard my hemotologist
knew best, but the rules were too strict back then, due to the limited
knowledge available at that time.
Myself I was too preoccupied by the disease to know that I should have
insisted about Soliris. The nearest expert on aHUS in adults is in southern
Sweden. In the Stockholm area I dare say that my hematologist became the
foremost expert on aHUS, just by trying to understand my case, but it was
never her speciality.
Once I had a diagnosis, the Swedish medical system, apart from the question
of Soliris, worked miracles. That my doctor could put a name on my
condition basically saved me, but it can’t be stressed enough that it is a problem
when there is too little known about a disease.
The first time that I met a specialist was when I privately arranged a
meeting with a doctor in France (where my wife comes from and where my version
of aHUS is a bit better known). It reassured me to have the diagnosis confirmed
and to learn more.
About then I also started to learn enough to understand that, even with
the great care that I have received, it could have been possible to
fight for an even better care (which ironically, in the long run, might have been
cheaper for the Swedish health care).
I had the luck of having a doctor that made a special effort to understand
my case, but in the end, no doctor has as much time to spend on an
individual as that individual has himself/herself.
Still today it is not known exactly how MGUS causes aHUS. There are more
articles written about the connection now, but there is still much to
learn. And this is, in varying degrees, true for all of the many different versions
of aHUS. So, I believe that every patient, who knows his/her case best, can
help in spreading awareness.
Myself, I am not good at public advocacy, but I am good with facts. So,
I have learned about how the bureaucracy works in Sweden and tried to point
out, to the ones responsible, when official policy has been based on old and
outdated assumptions. It is very likely that this rather silent advocacy has not had
much impact, but I have learned that for instance the aHUS Alliance
before me has advocated for the same thing and I think that many small streams can
make one big river.
For instance Soliris is no longer seen in Sweden as necessarily being a
life-long treatment. So, a life time of saved health care and increased
quality of life is no longer necessarily measured against a life time of costs for
While there is still much to improve, this is an important improvement
that I believe is due to advocacy.
Personally I am receiving very good treatment for the MGUS that caused aHUS.
Since I got diagnosed, I have lived with a stage 4 kidney failure (slowly
approaching stage 5) and a treatment against MGUS that is intended to
minimize the risk of a relapse. Especially since it was decided to
intensify the treatment after some possible (but not certain) indications of a new
complement activation two years ago. I am very limited in physical activity,
but luckily I have a sitting down work.
Despite this rather good situation for being an aHUS patient, I think it is
important both that I keep up with new research (through forums, facebook
and articles) and also that I do what I can to help spread the knowledge.
I suspect that the connection between MGUS and TMA related diseases will
become better known in the coming years and that if this knowledge is spread among
doctors, it could help save patients who would otherwise not have the right
diagnosis quickly enough.
In short, every little step can, when many people go in the same direction,
A thanks to Magnus for sharing his story as each patients journey helps more understanding.
Magnus’ version of aHUS is one of the TMAs brought about by cancer , in this case non malignant.
Magnus’ story illustrates how those whose aHUS is unexplained at the start of onset may eventually have an explanation found not in complement , but in something going on elsewhere which can hamper the appropriate working of complement. And although eculizumab is beneficial, that something once it is removed treatment is no longer needed.
Thus the expense on eculizumab for a short while, can be effective and avoid costs of renal failure over a life time.