Intro: Welcome to the Peds Ethics Podcast where we talk to leaders in pediatric bioethics about a hot topic or current controversy. And now, here's your faculty host from the Children's Mercy Bioethics Center in Kansas City.

Dr Jeremy Garrett (Host): Hello and welcome to another episode of the Pediatric Ethics Podcast, sponsored by the Children's Mercy Bioethics Center. My name is Jeremy Garrett. I'm a research faculty member in Bioethics and Program Director of the Pediatric Ethics Fellowship at Children's Mercy Kansas City, and I'll be your host for this episode.

Today, we'll be discussing the topic of pediatric rare diseases and the development of a community-led research agenda for better understanding the needs and priorities of patients and families living with rare diseases. I'm thrilled to be joined by two terrific guests who bring different perspectives to this topic. Courtney Berrios is a Certified Genetic Counselor in the Genomic Medicine Center at Children's Mercy Kansas City, and she was the principal investigator for the Rare Voices Project we'll be discussing today, which received funding support from the Patient-Centered Outcomes Research Institute, as well as the Genomic Answers for Kids Project at Children's Mercy Kansas City. Kimberly Freeman was an active member of the Rare Voices Advisory Group. She's a nurse by profession, but also the mother of a young child living with a rare disease. Her daughter, Jackie, was diagnosed with CHARGE syndrome early in life. And their medical journey as a family has provided her with a wealth of insight about our topic today.

Courtney, let's start with you. You were the lead in establishing the Rare Voices stakeholder group and getting this project funded and completed. Can you tell us more about what got you interested in this work and how the project was launched and what its primary aims were?

Courtney Berrios: Yeah, absolutely. And thanks so much for having us here today to talk about this project. So, the way it really got us started is, for some time, I've been kind of working in research on those psychosocial and ethics kind of aspects of genetics and rare disease. And as a part of this, I coordinate an advisory group within our genome center here at Children's Mercy, that's focused on what we call kind of the ELSI or Ethical, Legal and Social Implications of Genetics in rare disease. And that group is primarily focused on supporting these topics around our Genomic Answers for Kids Genomics Research Repository that does a lot of work in rare diseases. And it's really a multidisciplinary group, so we have clinicians, we have researchers, we have bioethicists, which include our host, Jeremy Garrett. And then importantly, we have parents of children with rare conditions on that group. And our job is to really advise researchers about those kind of ethical and social issues that arise around genetics and rare disease, and then also to conduct research on those topics.

And so, we would be in these meetings with our ELSI advisory group, and we'd be talking about our research and our recent findings. And while our parent members were always extremely supportive of the work that we were doing and the research that we were talking about, I just didn't get the sense that we were really hitting the nail on the head, that they were really excited about the particular ethics and social topics that we were talking about a lot of the time. And so, I kind of had that brewing in the back of my head, and thinking about this.

And then, I learned of this funding opportunity from the Patient-Centered Outcomes Research Institute. And they specifically have these awards available for engagement, the Eugene Washington Engagement Awards. And they have a type that's specifically for really building capacity within researchers, within patients, and family members to really work together and do patient-centered research. And so, it just really felt like this perfect opportunity to really gather a group of patients and family members and clinicians to really talk about what was really most important for us to study in these topics.

And I'll also say that I think these ethics and kind of social research topics are a nice fit for these cross-cutting type of work that looks at factors across rare diseases. We know that even though there's so many differences in rare diseases, that these can really be shared across those conditions. And so, we submitted an application. Thankfully, it was funded. So, we were able to really move forward with our aims for this project, which was to really build a research agenda for those ethics and psychological and social topics around genetics and rare disease that really span across many different types of rare disease and also to really have that agenda led by the community that the research should ultimately impact.

Host: Yeah. The guiding belief behind the project was really that the research priorities are best defined through engaging with communities who will be impacted by the research and have lived experiences of the topics to be studied. This ideal of researchers engaging the impacted communities and collaborating with them as equal partners seems laudable, promising, but it also presents some potential challenges. And I'm wondering if you could briefly describe how you went about selecting the particular patient, parent, and other community stakeholders for this project, and how you engaged with them, what you learned and gained from this engagement, and what challenges arose across the two years that the group was collaborating.

Courtney Berrios: So as far as selecting our members for this project, we really felt like it needed to be a regional project, because we realized that, you know, perhaps these research priorities could really differ here in the Midwest. We're located in Kansas City in the Midwest. That may be different than the priorities in like a coastal area where there may be bigger cities and more densely available medical care. So, we wanted to make sure that we did this as a local project. And so, I should say our group included 12 parents of children with rare conditions and four teens who are either impacted themselves or had a sibling with a rare condition.

And so, we started by, for those individuals, really recruiting through kind of some local rare disease advocacy and support organizations. Our institution has some really wonderful patient and family advisory groups. So, we also went to those as resources. And we really also wanted to make sure that we had some good Sociodemographic diversity and also diversity in the types of rare conditions that were represented. So we also went to some specific clinics within our institution and talked with providers there and said, hey you know is there a patient or a family member that you think might be a really good fit for this project.

And we actually had more interest in joining the group than we had spots, which is a wonderful place to be in, but also really difficult to select those final members for our project. And so we ultimately selected those members to really maximize that diversity in the group. and then our group also had six clinician and researcher members who work in different areas of rare disease.

and we really identified those just through local colleagues working in the area that really represented different specialties, that were relevant to rare disease, and who we felt would really, Let the patient and family members be the lead on these topics in the research agenda. So folks that we kind of knew and had some sense of how they would work within that project.

 And then I will say that group ultimately became called Rare Voices. And so I'll refer to them as Rare Voices from here on out. And that name actually came from our lead patient and family advisor on the project. And then, I think as far as how we engaged them, that kind of logistics part, is that we met monthly and then also had lots of small group discussions for tasks that needed to be done.

But I think a couple important things that kind of stood out to me with our engagement and that felt really important to me is that, one, we really started out all together doing some training and some talking about we have this project idea, like how are we going to all work together to make this happen? And really talking with a group about what might be difficult, like what hard things might come up during this project so that we could really adjust the project plans from the start and address those. And I feel like it's important to mention also that as we engage our members, that we did pay our Rare Voices members, because I think it was important to us to really recognize that we're asking them to be a part of the team. We're asking them to do work. And I know that I've heard from many of our parents that that's not why they did this. They did this because they wanted to really help others and make care better. But it was really important to us to really recognize that we're asking them to do work and we should pay them for their time in doing that

And then, once we jumped into the project, and as we've gone through it, I think I've learned so much. You know, I'm a genetic counselor by training. I've worked in rare disease research for a long time. But I think as researchers, we often kind of look at a piece or a part of the experience for patients and families, and this really gave me a more holistic view of rare disease and what it's like to live with a rare disease or care for a family member with a rare condition.

And then also, I think one thing we gained from that is really building these relationships with these really amazing and dedicated Rare Voices members who truly want to improve care for others. And I've learned so much, but I think one important thing was also that I think I've gained more of an accountability for my research and being really connected to the folks that we're doing it for and making sure not just in kind of completing this project, but also in making sure that we act on the findings of this project and really move forward with those in mind as we do research in the future.

And I think the last thing you asked about was about challenges of the project and there were certainly challenges. I think I'll give one project challenge and one I think that's more kind of a personal challenge for me. I think early on in the project, I think the personal challenge for me was just making sure that I was flexible and willing to really adjust those project plans in response to Rare Voices. I think we often come in with our project plan and we follow it unless something goes wrong. And then, we have to kind of adjust from that. I think by coming in and having those discussions with Rare Voices early about what was going to be hard, how do we work together to just really be willing to take that in and adjust our project plans from there from that input?

And then project-wise, I will say, I think, our biggest challenge was actually, we did struggle with engagement of our team members throughout the project and how well we did at that. And so, they were all team members involved in school and other activities, so extracurricular activities could interfere with meetings or have medical challenges that interfered.

But I think one of the important things that I learned is-- so as I mentioned, we had 12 parents, six clinicians and researchers, and four teens, and we heard from our teens that it could be a little intimidating to be in that meeting, whether in a whole meeting or a small group meeting to really share their views. And so, I think if I had this to do over again, I would certainly have more teens, maybe kind of have that like equal representation between parents and teens, or maybe even just have a separate project with teens to think about what are parents' priorities, what are teens' priorities? Because I think from what we heard from teens during this project, I think our priorities might look a little different that came out of it if we had done a better job of really engaging them.

Host: Thanks for sharing those challenges. That's really interesting, I think. And the idea of community engaged research, of course, really does present this challenge to the researcher who's used to coming in with a very clear plan of attack for how they want to proceed through the research because you're trying to be responsive in real time to what you're hearing and learning. And that does kind of challenged that tendency to want to control everything and follow the script that you had from the beginning with your research protocol.

So ultimately, the project identified eight research topics that should be prioritized in pediatric rare disease research. These include coordinating care, communication, accessing resources and care, impact on the family unit, community and support in society, mental health and Identity, ethical aspects of care, and uncertainty. I'm wondering if you can say a little more about how this list of topics was formed, as well as how the various proposed research questions were formulated within each of those topics.

Courtney Berrios: Sure. So, I think, coming in, we wanted to make sure that we had broad representation in building our research agenda. And we have this amazing Rare Voices group and members, but there was only 22 of them. We knew they couldn't represent all of the experiences around rare conditions. And so, our Rare Voices group, one of our main activities with the project, was really conducting some listening sessions with what ended up being of 52 caregivers and 13 teens from our regional rare disease community. And those listening sessions were really to talk with more people about like, what are your greatest challenges? What goes well? What hasn't gone well? What kind of priorities would you like to see to really make your life and your care better?

And when I say that Rare Voices did these listening sessions, I truly mean that Rare Voices did them. So, we had small groups that worked together for all aspects of it. So, we had a small group that developed our recruitment materials and plans. We had a small group that wrote our discussion guide for the listening sessions. And then, we actually had Rare Voice's parent members who moderated our listening sessions. And Kim, our other guest was actually one of the parents who served as a moderator, for those listening sessions and really led those discussions. And I think that was something that was really impactful to me to see about how those relationships and experiences, those kind of shared experiences that they had with the participants in the listening sessions really enriched information that we were able to collect.

And then once we did those listening sessions, we actually had another small group of Rare Voices members who actually really pored over all of that data. So, it was a lot of data, a lot of things that we had heard from these groups, and took all of that information and really pulled out those kind of common themes and turned them into those eight topics that you mentioned. And then from there, it kind of went to our internal team. We did some literature reviews about what was available on those topics, and then gave that back to Rare Voices again. And again, we had small groups, so folks in Rare Voices, who were particularly interested in one topic or the other came together, reviewed the literature that we'd put together, and then really proposed those research questions that are in the research agenda based on what they saw as gaps in the literature and what their personal experiences were.

And then, our last step was actually just a quick survey of our Rare Voices members to really topics by importance and feasibility. And so, the list of topics that you read, those are prioritized, and I think that's important. But I think also something that we really heard from our group is that there's so much interplay between those topics. And if you improve coordination of care, you're going to improve the impact on the family unit and you're going to improve mental health and things like that. So, also recognizing how much interconnectedness there is in all of those experiences and how they can impact patients and families.

Host: You mentioned Kimberly Freeman. I want to bring Kim in at this point. She brings a really important perspective to this discussion, both as a community member on the advisory board, but more importantly as the mother of a child diagnosed with a rare disease and part of that community that's impacted by rare disease research in children.

Kim, could you tell us more about Jackie and her medical journey and the ways that this may have highlighted and perhaps even challenged your understanding of what it means to live with a rare disease?

Kimberly Freeman: Hi, yes. Thank you so much first off for having me today. So, our journey started with Jackie when I was around 20 weeks pregnant with her and I had the typical anatomy scan, you know, that so many families think is just this fun appointment where you go and learn if you're having a boy or girl and that's kind of it, you get to go home and celebrate that. But that appointment can mean a lot more and turn quickly. And unfortunately, that was kind of our situation. And so, we were told that they were not able to get good pictures initially. And they mentioned some problems or concerns with her heart and her lip. And so, they wanted to send us on for a level 2 ultrasound.

And so in that moment, my heart dropped and I just knew instantly that something was wrong. And I vividly remember looking over at my husband and son who was just one-year-old at the time who were pushing a stroller around in the room and completely oblivious to anything that was going on. But I just knew deep down that something was wrong. And so, a few days later we went on and had the second scan and they did confirm that she had a congenital heart defect and cleft lip. And I remember the doctor reaching over for my hand and telling me that I didn't do anything wrong and, you know, that I was just sobbing in that moment and completely lost.

And at this point, we didn't know anything about even CHARGE syndrome or all the struggles that were ahead. We just knew these couple of things that they had confirmed. And so, I remember walking out of that building and just feeling like I was a different person and walking out into a completely different world. It just felt like I was starting a different life that, you know, you just don't ever anticipate.

And so I was followed closely for the rest of my pregnancy in the fetal health center at Children's Mercy. And we met with the Cleft and Craniofacial team, Cardiology, lots of other specialists. I had regular fetal echoes, so they were monitoring her heart closely, and we were planning for her to have open-heart surgery sometime within the first six months of her life. All this while I'm trying to care for my very young son and maintain some normalcy in life and work and all that.

So, went on, Jackie was born at full term and was sent directly to the NICU where she spent six weeks. She was initially seen by a geneticist within a couple of days of her being born and ultimately was diagnosed with CHARGE, clinically diagnosed because she was checking all the boxes for CHARGE. So, at birth, she was found to have a cleft palate in addition to the cleft lip that was seen on ultrasound. She failed her newborn hearing screening and was found to be profoundly deaf in one ear with some mild to moderate hearing loss in the other ear. An exam of her eyes showed that she had bilateral optic nerve colobomas and only time would tell how significantly this would impact her vision. So, it really just felt like one hit after the other while we were there for those first few weeks.

Fast forward now, she is eight years old. She's thriving. She's doing really well, but it has been a really long road to get here. So, she has had dozens of procedures and hospital stays and is still followed by many specialists regularly. She is in a mainstream classroom, which is really great and has an incredible team at school that kind of helped to adapt the environment so she is able to thrive just like any other kid would.

So ultimately, her journey and that experience that we have been through as a family has really just opened my eyes to so much about the world that we live in and the challenges that can be faced when navigating it with disabilities or a rare disease. The world just really is not made for people with rare diseases. And so, it takes a lot of fight and strength to get through and navigate not only the world and life, but the healthcare system when you're trying to deal with something that's really not built for you. So, it can be isolating and scary and lonely. And ultimately, I learned that just the daily struggle that those with rare diseases face is not something you can really grasp until you've lived it firsthand.

Host: Thank you for sharing that message. It's a beautiful and powerful message that you're sharing with us here. I would like to have you share a little bit more about your experience, specifically with the Rare Voices Project. How did you get involved and what were your expectations and goals when you agreed to serve on the advisory board? And I guess also, what did you gain from the experience and learn from the other stakeholders, including other parents like yourself?

Kimberly Freeman: So, I first heard about the Rare Voices Project because I was a member of the Family Advisory Board at Children's Mercy. And so, they had mentioned it during one of our meetings. In addition to sitting on the Family Advisory Board, I was also the CHARGE Syndrome Liaison for the state of Kansas. So, I was already involved in advocating for other families who are facing similar struggles. So, this was of interest to me. And then when I heard about the project, I felt like it would be a great opportunity to listen to other patients and families and hear their perspectives as well as having lived this myself. And then, I also thought it was just great that Children's Mercy wanted to ensure that the patient and family voice was heard. Because as I said, navigating the healthcare system with a child with complex needs can be really tough. So, that was great that Children's Mercy was willing to do that.

And then, my ultimate goal for the project was not so much to share my own story, but to listen to others and knowing that I had been there personally just let them know that I could support them through that. And as Courtney mentioned, I was involved in some of the moderating sessions. And so after hearing from patients and families, it became clear that there was a theme throughout all of us. And really, it feels like many of us, no matter what rare disease we're impacted by, feel the same way across the board and ultimately just want support and better care coordination and clear and open communication with those caring for our children.

Host: Yeah, I guess, you saw the list in real time developing. What did you think about the research topics that emerged and how do you hope that all of the findings from the project will be used within the medical and research communities to improve care for those children with rare disease?

Kimberly Freeman: Yeah, I thought the topics were great and we were able to nail down things that were important across the board to families. And, like I said, it was wild to see how much we all felt the same way. And so, I do hope that the medical and research communities can consider these voices and the patient and family voices and their perspective to make things easier for these families who are just dealing with so much.

I do think there is potential for some positive change within healthcare and the system and just things that can benefit all of the stakeholders involved. And ultimately, we all want the same thing which is just the best care for our patients and families.

Host: Thanks. I'd like to conclude by offering both of you opportunity to share any other larger lessons or findings from the project. You've had a chance to listen to each other and rethink about the project and all that we went through over those two years and what's come out of it. And if there's anything else you want to share with our audience about your broader experience with pediatric rare disease, this would be an opportunity to do that. Courtney, let's start with you.

Courtney Berrios: So, I mean, I think I kind of took home two lessons from this, kind of like personal lessons for myself. First, I think what really stood out about the research agenda to me is that, as we talked about that kind of interconnectedness, these challenges of coordinating care and communication and accessing care, all of these things that came at the top are really followed by then all these psychosocial aspects, so things like mental health and the impact on the family unit. And so, I think what really stood out for me is just that overall impact that our healthcare structures and system and our attitudes in our society really have for patients and family members and just what a long way we have to go to really better support these patients and families who have rare conditions.

And then also, I think what I took away from this is that, you know, if we're really willing to kind of truly be humble and flexible in our work, then we just have so much to learn from patients and families in ways that we can really improve our research. And as Kim mentioned, I think you can't know what it's like until you've been in those shoes. And as much as I've learned from that, I know there's certainly more to learn. And so, it's really changed the way that I do my research that now pretty much every team has a parent or patient or family member on there to really advise us and to really integrate them into part of that team. And so, I think just understanding how impactful that can be in making our research better.

Host: Thanks, Courtney. Kim, do you have any other larger lessons or findings from your experience or from this project that you want to share?

Kimberly Freeman: I mean, ultimately, I was just really glad to be a part of this project. And I think it was so great of Children's Mercy, like I said, to listen to these voices and allow them to be heard because it's so important that they are and that these families know that what they feel matters and, like I said, the themes across the board It was very clear that this isn't just an isolated experience and feeling that one family is having. It seems to be across the board. Everyone feels the same way.

Host: Well, if you're a listener interested in learning more about the work of the Rare Voices group, I'm happy to announce that a paper summarizing the work has just been published in open access format in the Orphanet Journal of Rare Diseases, and a link to for that will be provided in the show notes for this episode.

I want to thank both of our guests, Courtney Berrios and Kimberly Freeman, for joining us today on the Pediatric Ethics Podcast. And thank you all for listening.