Welcome to KD GO Conversations in Nephrology.
This episode in our complement mediated kidney disease series
titled A patient and Caregiver Perspective is provided by KD GO
and supported by Appellus and Sobi.
Here's your host, Doctor Carla Nester.
Hello and welcome to KD Go Conversations in Nephrology.
My name is Carla Nester. I'm the professor of internal
medicine and Pediatrics and director of the division of
Pediatric nephrology at Stead Family Children's Hospital.
And joining me to discuss a patient and caregiver
perspective is Miss Mariana Silsar Nilson.
Miss Nilson is the mother of a girl who lives with Immune
Complex MPGN and she is the founder of Comp Cure, which is a
not-for-profit association dedicated to improve outcomes in
patients with C3G and Immune Complex in PGN.
Miss Nilson, welcome to the program.
Thank you very much for the opportunity.
To be here. And support you in shining the
light on complement. Mediated kidney diseases.
We're going to begin our discussion today with a few
questions and we'll give you plenty of time to answer.
What is the most difficult thing about being a rare kidney
disease patient or parent or particularly for C3G or immune
complex in PGN? Although it is difficult to
generalize, also keeping in mind that there are more than 300
rare kidney diseases, of which many are heterogeneous, I think
that most of the affected people share the following challenges,
which also hold true for C3G and IC MPGN.
The first challenge is the diagnostic journey.
It's typically long. We all know that it takes five
years on average to be diagnosed in rare diseases.
The diagnostic journey in C3G and ICMPGN can also be very
long. It is a challenge that kidney
diseases can be silent killers with unspecific symptoms such as
fatigue and hypertension. This could be so many different
things and that makes it difficult for the doctors but
also for the patients. Diagnosing C3G and ICMPGN
requires that pathologist who knows what to look for, and they
are not always so easy to come across.
Some patients in our community are lucky to be diagnosed early
through screening programs, but most of the people in our
community experience severe symptoms by the time that
disease is detected. Many were hospitalized.
This was also the case for my daughter and she needed two
biopsies to get her exact diagnosis.
I think it's important that we remember that the diagnostic
journey is difficult to navigate, even for resourceful
families living in rich countries.
As a result, I believe that many patients are not being diagnosed
at all. The second challenge is that
most rare diseases are often facing a serious progressive
condition and realising that there's no cure or disease.
Modifying therapy is frightening and devastating.
Life never becomes the same again.
You will need to deal with a new level of stress and anxiety
while managing the disease. The third challenge is related
to the heterogeneity and insufficient disease.
Understanding the likelihood that you're treating physician
has widespread experience in your specific rare disease is
slim. It takes time, current and
commitment to find experts which is very important.
Data privacy and territorial approaches to data sharing pose
several challenges for building proper levels of long term
evidence needed to inform clinical decision making and
guidelines. As a result, many patients
perceive the clinical practice as experimental and
disproportionately influenced by short term financial priorities,
which can lead to sub optimal levels of care, poor outcomes
and even premature death. Thank you, Mariana.
That's very insightful. It's an important set of
challenges you've reminded us that exist.
If I asked you, is there one in your mind that's a priority, or
are they all equally important? That's a difficult question.
I mean, I think they are connected.
So in order to get the right level of care, you need to get
it timely and that requires that you're diagnosed timely and you
need to have nephrologist taken care of you.
If they have the right level of experience, it's just easier for
them to make the right decisions and then they know what to do.
And that's not, you know, always the situation that makes it
very, very difficult for the treating physicians in rare
diseases in general. Thank you.
Through your child's journey or through your journey through
this process, were there steps where you thought to yourself,
wow, this could have really gone differently or better?
And if so, do you have a suggestion for how it could have
gone different or better? It's a good question.
And before I answer it, I just want to emphasize that all the
physicians involved in treating Esther, my daughter, they were
extremely skilled and they just did an amazing job.
But nevertheless, she ended up in the intensive care unit in
coma with sepsis and a mild stroke.
So we spent two months in hospital, primarily in a room
with five other families, and there was this constant level of
noise and anxiety, and it was just impossible to really shake
off. So I believe that the long
hospital stay and the severe complications could have been
avoided if Esther would have been diagnosed earlier.
And so I think that screening programs, something that should
be explored, I mean, not specifically to C3G and ICMPGN,
but for kidney diseases in general.
And being diagnosed with a kidney disease is not enough.
It's really, really important to know what kind of kidney disease
you have. So that is the first.
The next one is related to the therapy.
So Esther was treated with steroids, pulse therapy three
times. We did not really see any
effect, but the side effects were terrible.
I honestly couldn't recognise my daughter physically and
psychologically. When her disease got really
serious, she was initiated on a targeted therapy off label and
it worked. Nevertheless, we had to fight
pretty hard to get access to this medicine.
So I think that access to innovation before critically
illness and while there's still kidney function left to preserve
is really important. And also here I think that
experts and strong guidelines of critical importance, we need to
keep in mind that critical illness and long hospital stays
impact the entire family. The siblings are neglected.
In our case, Esther's twin brothers, who were not even 2
years old, didn't really see me for two months.
I remember that I feared that they would forget about me.
My husband and I took turns staying in hospital with Ester
and going to work every second day during the night.
I would always stay in the hospital with Ester.
Both of our employers went above and beyond to support us and I
think this is really rare when going through a disease journey
like this one. Employment is mostly impacted,
which would also be consistently considered in health economic
discussions. Thank you for sharing your
story. Unfortunately, I suspect, as
you've indicated, that there are others that have gone through
similar presenting stories. I also see your point about the
advantage of early diagnosis. But what I also hear from what
you are saying is, is that physicians need to better
understand or at least recognize just how traumatic some of these
early events can be, not only to the patients but to the family
unit. I think it's an amazing thing
for us to just keep in the back of our minds going forward.
When thinking about the next decade of care for C3G and
Immune Complex GN, what do you think will be the most
impactful? I think there will be much more
knowledge about the diseases. And more options and how to
treat them. I also think that.
There will be more focus on early diagnosis.
The outlook today is completely. Different than it was six years
ago when my daughter was diagnosed.
This is extremely positive. I agree, I'm curious and I don't
want to put you on the spot, but how do you think we should
spread the knowledge better? I think it's.
Important that we. Think broadly here and that we
communicate outside, you could say.
Of the normal bubble. So that is also to.
Primary care physicians. Because they're the.
First ones typically seeing these patients.
But I. Actually also.
Think we need to communicate with a normal.
Population and leverage whatever channel we can.
So I can say for our little association, Comcure, we
leveraged a celebrity. We were in national television
both in Germany and in Turkey. We had the opportunity to
present in the European Parliament at a side meeting of
the World Health Assembly. And this year we actually
reached more than 25 million people.
Of course, we don't only talk about rare kidney diseases or
these, you know, very rare diseases, ICM, PDN and C3D.
We talk about kidney diseases in general, but we don't forget to
mention how important it is to get the exact diagnosis. 40% of
people in dialysis. In Europe, they don't know what.
Disease. They have, and probably many of
them have, a rare kidney disease and it's just extremely
important that they are being diagnosed correctly because
that's a prerequisite for getting a targeted and optimal
therapy. Of course, sure.
So are there things that you're worried about going forward?
I mean, I'm less worried now than it was six years ago, but I
must admit that I still worry a lot about the future.
The long term reality is that we are fighting a battle against
oblique prognosis. I do, however, believe that we
have a chance to win this battle, especially if we work
together as a community, caring for each other, sharing our
expertise and our data with a common objective of helping
patients to get diagnosed early and treated optimally.
This is the mindset we have in the patient community and it
gives us a lot of hope and encouragement.
If you're just tuning in, you're listening to the K Deagle
podcast on a patient and caregiver perspective.
My name is Carla Nester, and I'm speaking with Miss Mariana
Silkshar Nielsen. So as I'm listening to you
speak, I'm thinking to myself, do you have a concept of whether
the major challenges will be the same in the next 5 years as they
were for those that you faced previously?
Yeah. I think that the challenges we
just talked about could still be there in five years from now.
Furthermore, the current geopolitical environment and
macro trend pose additional challenges to the global health
systems. Rare diseases could end up being
further deprioritized. I think these could be
additional arguments in favour of doing everything possible to
avoid critical illness. My dream is that all patients
living with C3G and ICMPGN will get access to the right level of
care in the future, personalized to their individual needs.
On this premise, Come Here was founded through broad global
collaboration and partnership. Comcure is now active in more
than 20 countries and our global growing registry includes data
from more than 300 patients. We are in the process of getting
e-mail regulatory GRACE data certification and I also hope
that we will be able to support the development of guidelines in
the future. To conclude, I believe that
together we can effectively address the challenges we are
facing while supporting all patients in being diagnosed
early, treated timely and optimally, and getting a chance
to live healthy and fulfilling lives.
Before we close, are there any final messages you would like to
leave with our listeners? I hope that this podcast.
Can inspire awareness and reflection on the broad impact
C3G and IC and PGN can have on the lives of patients and their
families. If you.
Would like to learn more about Comcure and our activities with
Focus. On C3G and IC and PGN, we will
look forward to hearing from you.
I want to thank my guest, Miss Mariana Nielsen for joining me.
It was a great pleasure having you on the podcast today.
It was an honor for me to be here.
Thank you so much for the opportunity and for.
Your incredible. Professional and personal
commitment to support our community.
My name is Carla Nester and I am a rare kidney disease
specialist. To access this and other
episodes in our series, visit kdgo.org/podcast.
Thank you for listening.