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Welcome to KD GO Conversations 
in Nephrology. 

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This episode in our complement 
mediated kidney disease series 

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titled A patient and Caregiver 
Perspective is provided by KD GO

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and supported by Appellus and 
Sobi. 

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Here's your host, Doctor Carla 
Nester. 

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Hello and welcome to KD Go 
Conversations in Nephrology. 

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My name is Carla Nester. 
I'm the professor of internal 

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medicine and Pediatrics and 
director of the division of 

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Pediatric nephrology at Stead 
Family Children's Hospital. 

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And joining me to discuss a 
patient and caregiver 

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perspective is Miss Mariana 
Silsar Nilson. 

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Miss Nilson is the mother of a 
girl who lives with Immune 

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Complex MPGN and she is the 
founder of Comp Cure, which is a

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not-for-profit association 
dedicated to improve outcomes in

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patients with C3G and Immune 
Complex in PGN. 

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Miss Nilson, welcome to the 
program. 

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Thank you very much for the 
opportunity. 

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To be here. 
And support you in shining the 

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light on complement. 
Mediated kidney diseases. 

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We're going to begin our 
discussion today with a few 

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questions and we'll give you 
plenty of time to answer. 

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What is the most difficult thing
about being a rare kidney 

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disease patient or parent or 
particularly for C3G or immune 

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complex in PGN? 
Although it is difficult to 

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generalize, also keeping in mind
that there are more than 300 

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rare kidney diseases, of which 
many are heterogeneous, I think 

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that most of the affected people
share the following challenges, 

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which also hold true for C3G and
IC MPGN. 

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The first challenge is the 
diagnostic journey. 

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It's typically long. 
We all know that it takes five 

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years on average to be diagnosed
in rare diseases. 

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The diagnostic journey in C3G 
and ICMPGN can also be very 

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long. 
It is a challenge that kidney 

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diseases can be silent killers 
with unspecific symptoms such as

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fatigue and hypertension. 
This could be so many different 

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things and that makes it 
difficult for the doctors but 

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also for the patients. 
Diagnosing C3G and ICMPGN 

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requires that pathologist who 
knows what to look for, and they

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are not always so easy to come 
across. 

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Some patients in our community 
are lucky to be diagnosed early 

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through screening programs, but 
most of the people in our 

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community experience severe 
symptoms by the time that 

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disease is detected. 
Many were hospitalized. 

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This was also the case for my 
daughter and she needed two 

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biopsies to get her exact 
diagnosis. 

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I think it's important that we 
remember that the diagnostic 

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journey is difficult to 
navigate, even for resourceful 

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families living in rich 
countries. 

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As a result, I believe that many
patients are not being diagnosed

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at all. 
The second challenge is that 

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most rare diseases are often 
facing a serious progressive 

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condition and realising that 
there's no cure or disease. 

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Modifying therapy is frightening
and devastating. 

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Life never becomes the same 
again. 

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You will need to deal with a new
level of stress and anxiety 

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while managing the disease. 
The third challenge is related 

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to the heterogeneity and 
insufficient disease. 

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Understanding the likelihood 
that you're treating physician 

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has widespread experience in 
your specific rare disease is 

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slim. 
It takes time, current and 

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commitment to find experts which
is very important. 

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Data privacy and territorial 
approaches to data sharing pose 

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several challenges for building 
proper levels of long term 

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evidence needed to inform 
clinical decision making and 

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guidelines. 
As a result, many patients 

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perceive the clinical practice 
as experimental and 

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disproportionately influenced by
short term financial priorities,

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which can lead to sub optimal 
levels of care, poor outcomes 

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and even premature death. 
Thank you, Mariana. 

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That's very insightful. 
It's an important set of 

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challenges you've reminded us 
that exist. 

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If I asked you, is there one in 
your mind that's a priority, or 

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are they all equally important? 
That's a difficult question. 

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I mean, I think they are 
connected. 

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So in order to get the right 
level of care, you need to get 

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it timely and that requires that
you're diagnosed timely and you 

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need to have nephrologist taken 
care of you. 

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If they have the right level of 
experience, it's just easier for

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them to make the right decisions
and then they know what to do. 

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And that's not, you know, always
the situation that makes it 

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very, very difficult for the 
treating physicians in rare 

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diseases in general. 
Thank you. 

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Through your child's journey or 
through your journey through 

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this process, were there steps 
where you thought to yourself, 

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wow, this could have really gone
differently or better? 

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And if so, do you have a 
suggestion for how it could have

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gone different or better? 
It's a good question. 

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And before I answer it, I just 
want to emphasize that all the 

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physicians involved in treating 
Esther, my daughter, they were 

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extremely skilled and they just 
did an amazing job. 

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But nevertheless, she ended up 
in the intensive care unit in 

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coma with sepsis and a mild 
stroke. 

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So we spent two months in 
hospital, primarily in a room 

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with five other families, and 
there was this constant level of

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noise and anxiety, and it was 
just impossible to really shake 

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off. 
So I believe that the long 

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hospital stay and the severe 
complications could have been 

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avoided if Esther would have 
been diagnosed earlier. 

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And so I think that screening 
programs, something that should 

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be explored, I mean, not 
specifically to C3G and ICMPGN, 

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but for kidney diseases in 
general. 

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And being diagnosed with a 
kidney disease is not enough. 

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It's really, really important to
know what kind of kidney disease

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you have. 
So that is the first. 

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The next one is related to the 
therapy. 

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So Esther was treated with 
steroids, pulse therapy three 

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times. 
We did not really see any 

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effect, but the side effects 
were terrible. 

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I honestly couldn't recognise my
daughter physically and 

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psychologically. 
When her disease got really 

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serious, she was initiated on a 
targeted therapy off label and 

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it worked. 
Nevertheless, we had to fight 

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pretty hard to get access to 
this medicine. 

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So I think that access to 
innovation before critically 

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illness and while there's still 
kidney function left to preserve

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is really important. 
And also here I think that 

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experts and strong guidelines of
critical importance, we need to 

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keep in mind that critical 
illness and long hospital stays 

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impact the entire family. 
The siblings are neglected. 

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In our case, Esther's twin 
brothers, who were not even 2 

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years old, didn't really see me 
for two months. 

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I remember that I feared that 
they would forget about me. 

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My husband and I took turns 
staying in hospital with Ester 

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and going to work every second 
day during the night. 

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I would always stay in the 
hospital with Ester. 

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Both of our employers went above
and beyond to support us and I 

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think this is really rare when 
going through a disease journey 

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like this one. 
Employment is mostly impacted, 

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which would also be consistently
considered in health economic 

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discussions. 
Thank you for sharing your 

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story. 
Unfortunately, I suspect, as 

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you've indicated, that there are
others that have gone through 

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similar presenting stories. 
I also see your point about the 

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advantage of early diagnosis. 
But what I also hear from what 

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you are saying is, is that 
physicians need to better 

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understand or at least recognize
just how traumatic some of these

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early events can be, not only to
the patients but to the family 

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unit. 
I think it's an amazing thing 

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for us to just keep in the back 
of our minds going forward. 

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When thinking about the next 
decade of care for C3G and 

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Immune Complex GN, what do you 
think will be the most 

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impactful? 
I think there will be much more 

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knowledge about the diseases. 
And more options and how to 

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treat them. 
I also think that. 

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There will be more focus on 
early diagnosis. 

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The outlook today is completely.
Different than it was six years 

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ago when my daughter was 
diagnosed. 

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This is extremely positive. 
I agree, I'm curious and I don't

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want to put you on the spot, but
how do you think we should 

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spread the knowledge better? 
I think it's. 

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Important that we. 
Think broadly here and that we 

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communicate outside, you could 
say. 

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Of the normal bubble. 
So that is also to. 

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Primary care physicians. 
Because they're the. 

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First ones typically seeing 
these patients. 

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But I. 
Actually also. 

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Think we need to communicate 
with a normal. 

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Population and leverage whatever
channel we can. 

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So I can say for our little 
association, Comcure, we 

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leveraged a celebrity. 
We were in national television 

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both in Germany and in Turkey. 
We had the opportunity to 

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present in the European 
Parliament at a side meeting of 

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the World Health Assembly. 
And this year we actually 

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reached more than 25 million 
people. 

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Of course, we don't only talk 
about rare kidney diseases or 

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these, you know, very rare 
diseases, ICM, PDN and C3D. 

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We talk about kidney diseases in
general, but we don't forget to 

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mention how important it is to 
get the exact diagnosis. 40% of 

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people in dialysis. 
In Europe, they don't know what.

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Disease. 
They have, and probably many of 

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them have, a rare kidney disease
and it's just extremely 

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important that they are being 
diagnosed correctly because 

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that's a prerequisite for 
getting a targeted and optimal 

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therapy. 
Of course, sure. 

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So are there things that you're 
worried about going forward? 

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I mean, I'm less worried now 
than it was six years ago, but I

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must admit that I still worry a 
lot about the future. 

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The long term reality is that we
are fighting a battle against 

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oblique prognosis. 
I do, however, believe that we 

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have a chance to win this 
battle, especially if we work 

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together as a community, caring 
for each other, sharing our 

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expertise and our data with a 
common objective of helping 

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patients to get diagnosed early 
and treated optimally. 

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This is the mindset we have in 
the patient community and it 

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gives us a lot of hope and 
encouragement. 

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If you're just tuning in, you're
listening to the K Deagle 

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podcast on a patient and 
caregiver perspective. 

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My name is Carla Nester, and I'm
speaking with Miss Mariana 

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Silkshar Nielsen. 
So as I'm listening to you 

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speak, I'm thinking to myself, 
do you have a concept of whether

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the major challenges will be the
same in the next 5 years as they

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were for those that you faced 
previously? 

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Yeah. 
I think that the challenges we 

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just talked about could still be
there in five years from now. 

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Furthermore, the current 
geopolitical environment and 

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macro trend pose additional 
challenges to the global health 

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systems. 
Rare diseases could end up being

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further deprioritized. 
I think these could be 

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additional arguments in favour 
of doing everything possible to 

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avoid critical illness. 
My dream is that all patients 

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living with C3G and ICMPGN will 
get access to the right level of

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care in the future, personalized
to their individual needs. 

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On this premise, Come Here was 
founded through broad global 

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collaboration and partnership. 
Comcure is now active in more 

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than 20 countries and our global
growing registry includes data 

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from more than 300 patients. 
We are in the process of getting

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e-mail regulatory GRACE data 
certification and I also hope 

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that we will be able to support 
the development of guidelines in

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the future. 
To conclude, I believe that 

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together we can effectively 
address the challenges we are 

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facing while supporting all 
patients in being diagnosed 

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early, treated timely and 
optimally, and getting a chance 

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to live healthy and fulfilling 
lives. 

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Before we close, are there any 
final messages you would like to

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leave with our listeners? 
I hope that this podcast. 

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Can inspire awareness and 
reflection on the broad impact 

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C3G and IC and PGN can have on 
the lives of patients and their 

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families. 
If you. 

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Would like to learn more about 
Comcure and our activities with 

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Focus. 
On C3G and IC and PGN, we will 

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look forward to hearing from 
you. 

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I want to thank my guest, Miss 
Mariana Nielsen for joining me. 

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It was a great pleasure having 
you on the podcast today. 

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It was an honor for me to be 
here. 

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Thank you so much for the 
opportunity and for. 

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Your incredible. 
Professional and personal 

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commitment to support our 
community. 

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My name is Carla Nester and I am
a rare kidney disease 

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specialist. 
To access this and other 

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episodes in our series, visit 
kdgo.org/podcast. 

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Thank you for listening.