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.