 All right, so while I'm loading up, let me just introduce myself with a caveat that this is going to be considerably less polished than what we've heard so far. I'm basically coming here to vet some ideas from my dissertation proposal, because I think this is going to be a wonderful place for me to do that. And I'm also looking for my, I'm a Mac person, so this is, yeah, okay, perfect. Thank you. So also just to remind you, you know, I'm now a PhD student in health policy and management, so I still focus very much on genetics, and I'm still very concerned with rare disease populations, but the focus of my research is a little bit different in that it's intended to inform the development of research ethics rules and policy. And so that's just to bear in mind. So at the end of the talk I'm going to vet some ideas and issues from my dissertation proposal, but at the beginning I want to kind of talk a little bit about how I got there, because it certainly bears some explanation. So at the moment there is a large sort of federal and non-profit focus on funding research that involves patient engagement, and this is a little bit different from cognitive engagement, which Jillian was talking about, although I like the definition of cognitive engagement a lot more. I think patient engagement is still a kind of concept of work in progress, and the largest organization that's funding work for patient-engaged research at the moment is the Patient-Centered Outcomes Research Institute, which was established by the ACA. Basically there's just very little definitional or conceptual clarity about what patient engagement is, and very little data on how and why different kinds of patients believe that they should be involved in research. So what does PCORI in particular want patients to be engaged in, and I put patients in quotation marks because it's even unclear what they mean by that. People I think is what they mean, but anybody who might at some point in their lifetime consume healthcare. But so they want patients to be involved in setting research priorities, formulating research questions, self-reporting and volunteering personal data, monitoring projects, ethical oversight, all kinds of things. If you look to the literature, obviously the concept of patient engagement is a little bit of a repackaging of earlier notions of community-based participatory research and participatory research models, and so if you interpret the literature broadly and you incorporate some of that previous literature, you'll see that there's many different arguments for why we'd want to do this, why would we want to involve patients in research more meaningfully. And so the most common argument is that it's instrumentally valuable in some way that it actually improves the research process and the outcomes of the research. There's also political arguments for doing so, that patients basically are empowered by engagement relative to powerful academic institutions and medical institutions, and then there's also arguments that they actually just derive meaning from doing it. And this, I apologize for this word, this is a bioethics word, deontological, but basically, you know, it just means that it's inherently the right thing to do irrespective of any empirical evidence. And so how did I get to think about this? So when I worked at Kennedy Krieger in the clinic, I worked in the excellent Adrenalucid Dystrophy Clinic there and became very close with a number of the patient advocacy groups through that involvement. And in 2013, a couple clinicians and a few advocacy organizations bound together and formed a nonprofit research advocacy group, which applied for funding from PCORI to be part of what they're calling PCORNet, which is essentially a giant national database for comparative effectiveness and clinical research. And the idea is really just to basically, in a nutshell, take 11 kind of hospital or practice organizations or health plans and 18 sort of patient groups with some provider and health institution buy in, put them all together in a giant database that's going to have HR data, it's going to have self-reported data, it's going to have claims data, it's going to have pre-existing registry and biobank data all in one place with kind of a social network wrapped around it. So it's a pretty ambitious endeavor and it was funded to the tune of like $93 million to be executed over 18 months. And the program's about a third the way through now. So ALD Connect, that was us. We wrote this grant and we didn't think we would get it at all and we did. So that and I left Kennedy Krieger four weeks later. So it was all a bit of a surprise. This is just to show you the grant timeline, the patient engagement initiatives that they're rolling out are being rolled out kind of contemporaneously with the actual building of the registry and the import of the data. And although it looks like it's kind of sequential, it's really all happening at once in this kind of iterative way. And so it's quite hectic. I've never seen or heard of anything like this. And it's, you know, a lot of different patient organizations with a lot of different institutional cultures and values in the mix. So just as a quick reminder, for excellent adrenal leukodystrophy specifically, there are actually numerous phenotypes and the two, I guess most clinically obvious ones are childhood cerebral disease, which occurs in less than half of the kids who are affected and less than half of the boys. And then pretty much everyone by the end of their life will have developed a progressive spasticity, which is more like HSP, which doesn't come with white matter brain involvement usually. And so this population is actually not one population. That's what became apparent immediately after we won the grant was that there's many different ways people wanted us to spend this money. And of course, there had been no foundational research about their attitudes or their beliefs at all. In fact, very few people had even known that we had done this. So I jumped in as quickly as I could and I tried to convince them to spend some of this money on a pilot interview study, which was done not, was not executed as rigorously as I would have liked, but, you know, I felt pretty strongly that it was important to get some data about what people thought. And I, you know, tried to sample a mixture of people with adult onset adrenal myoneuropathy and mothers of children with childhood cerebral disease to maximize variability with respect to their urban rural geographical location, and really just did interviews that covered two domains. What were their experiences and beliefs about being engaged in research, you know, just generally, and then and what do they think specifically about ALD and PCORnet's plans? And I won't go into it a lot. Obviously, this data is not representative in any way, but one thing that was quite striking is the AMN men were pretty similar in what they had to say, you know, they had relatively little prior experience in orchestrating and advocating for research. They generally viewed patient engagement as kind of a cool opportunity to compare and socialize and figure out where their disease progression compared against others. And they were very supportive of PCORnet, but they weren't jumping out of their seats, you know, to come and be a part of it. They thought that was fine, but it wasn't something they were hugely enthusiastic about. Now, the mothers, I haven't really been able to distill this into themes because we never really saturated I think the themes, but the point in sharing these quotes is just to show you that they were kind of all over the place and very different from the men. ALD mothers, you know, some of them basically felt that this was just too much to all of a sudden be employed as a full time research team member was was too overwhelming that the disease was already so all encompassing in their life that they wanted time away from it, not more time with it. And, you know, others just alluded to the fact that, you know, stuff that we all know about, you know, members of couples cope differently with severe childhood illness and and that, you know, for some being involved in research as a coping mechanism for others, it's just not it doesn't work. And so, you know, from this, I had many of my clinical intuitions were kind of confirmed that parents of affected children, you know, are going through something very different than what adults with AMN are going through and that that is relevant somehow to their roles in the research process. And then there's this alternative kind of framing where some people were just kind of indignant as if to say, you know, who are you to tell us about engagement, we've been doing this for years, everything that we know about this disease is because of us. And of course, many of you probably know the Lorenzo's Oil story has been this highly publicized story about, you know, I mean, it's highly contested, but the Adonai family and their kind of quest to get Lorenzo's Oil approved. And that's still something that a lot of ALD advocates are very proud of, you know, that the parents had were drivers of that. And then ALD mothers also really talked a lot about competing priorities. And you'll see also here, you know, who said we need this for years, nobody paid attention. And all of a sudden we have half a million dollars, what's going on. So that's just to show you that I at this point, oops, I stopped. Can I go back? Well, I stopped because I realized that I was more here than I was going to be able to investigate in the scope of this rapidly accelerating giant infrastructural grant program. And I needed to quit my job at Kennedy anyway. So I did what PhD students do. I did a literature review. And again, found lots of evidence for something that we all know already. And that's basically that since the early 80s, rare disease advocates have really transformed the research landscape in all kinds of ways by building biobanks, by patenting genes, by discovering drugs, by orchestrating clinical trials, by funding, you know, investigators, all kinds of stuff. And surely I thought this must be relevant if patient engagement is going to be something that we're now focusing on this experience in this history is something that needs to be documented a little more systematically. And another thing I noticed is that a vast majority of these people of these early organizations were parent organizations advocating on behalf of diseases their children had. And more recently, I don't you may have seen in the New Yorker there was a recent article about Matt Miten, Matt Willsie, who whose kids, they basically found each other on the internet and facilitated the discovery of the first genetic disorder of D. Glycosylation. And in general, I think patients more and more now are using the internet to connect with one another and facilitate research discoveries without using advocacy organizations as an intermediary. So this is a dynamic landscape, but it's very significant and particularly in rare disease, it just hasn't been documented all that well. Rebecca Dresser has looked at the role of advocacy in research and she's noticed in HIV and in cancer. Generally, these qualities tend to manifest in patient advocates involved in research. And I kind of did a lit review to see whether this is true of rare disease advocates too. And I think to an extent, these things are true, but maybe not entirely. I don't think there's enough evidence to support that they're definitely true always, but certainly there is a tendency among advocates to frame research participation in positive or hopeful terms, and that can often be very therapeutic, I think, but there are concerns about whether those positive hopeful terms are always realistic. They tend to have strong opinions. They tend to represent broader populations with uneven quality and legitimacy. There tend to be wealthier, more educated people who are more successful in research collaborations and they tend to want to change things. Which, I mean, all of these things are not necessarily good or bad or anybody's fault, but they just are characteristics, I think, that we need to look at more closely. But we also know that many parents of children with special healthcare needs are more likely to experience financial hardship. There's plenty of people who have absolutely no time to even do their jobs, let alone take on a research volunteer position, and there's plenty of people for whom advocacy is just not the right place to be. And so, you know, I think about my experiences at Kennedy Krieger in the clinic, there's so many families there who you never see, you know, at the podium at NIH and you never see them writing up a quarry grant, and I don't know that we've ever been really good at bridging the divide between those two types of people. So the overall aim of my project is to determine, to kind of take a step back and to try to think about what we would do if we could have done this before the PCORI award had been given. And that's just to determine what parents of children with rare disease believe a parent's role should be in research on their child's condition, how such research should be structured and executed, and how these views vary depending on the nature of their prior patient advocacy involvement. And I'm going to try to get parents of children who have been very involved in advocacy in lots of different ways, and then people who have never been involved at all. And to do that I'm going to try to recruit them through advocacy networks and then through the clinics that I used to work in. So at the moment I'm looking at three disease groups, or hoping to look at three disease groups, childhood cerebral ALD, background Duchenne muscular dystrophy, and then Phelan McDermid syndrome. I think these three tend to represent a quite wide spectrum of issues that you'll see in a PEDES neuroclinic. And all three of these disorders have patient groups that have won the PCORI grant. So they're all kind of in this system swimming around and learning at the same time. So my first aim is just to explore, you know, kind of landscape a little bit and explore what they've actually done, what roles they've played, what skills they've developed, what experiences they've had, and kind of use that to guide the interview and the sampling a little bit because I think we don't even really know the full range of roles that have been played. And then the second aim is to explore the views that should be offered. They think that should be offered to parents in research on their own children's conditions. You know, because I think there's so many roles that the PCORI is trying to give patients. We have to figure out some way of prioritizing which are the really important ones, or which are the ones that people can opt out of, which are the ones that, you know, we need representation from lots of people, which are the ones where, you know, I think just to kind of put it all on people's plates is it's very overwhelming. So to try to sift through a little bit their prioritization of what they think patients should really do, and then mechanisms. And this is really specifically about a database like PCORI. You know, what are actually the acceptable ways of being approached for research participant? What do they think are acceptable data sharing practices in the network and so forth? You know, really trying to hone in on the nitty gritty of how their data is getting in and out and what role they're playing in those decisions. Because I think that if you talk to people about these things in a more systematic way and you report it publicly, transparently, that in itself is an act of engagement and hasn't been done in a lot of these groups. So I'm going to skip over eligibility because I want to just quickly focus on this. What I'm struggling the most with right now is how to sample. Because there are so many ways that these individuals can differ besides their nature and degree of advocacy role and in ways that could really affect their views. And one thing I also struggle with is I'm so likely to get more moms than dads that I'm wondering if I should just cut the dads out altogether, although I hate to do that. I just want to try and clean the data a little bit so that we're talking about things in comparable ways and I can compare across disease groups. So that's what my advisor and I are going back and forth about a lot right now. And just another note to mention is that this is not part of my dissertation but I am involved in it. I sit on the Patient and Consumer Engagement Task Force at PCORnet and we are in a separate endeavor designing a quantitative survey which is trying to evaluate the patient engagement process through this network. And so I'm hoping that my qualitative data will somehow complement this. I'm trying as hard as I can to map it on to some of the things that they're looking at at specific intervals. But you know, again my advisor and I are a little nervous that if this gets, you know, I shouldn't prioritize that aim too much of mapping what I'm doing to this because I don't have a lot of control over this. But I am hoping that, you know, they're looking to measure so many things in a categorical way and I'm hoping to come out with some qualitative data that will explain why people have done well or poorly or why people rejected or accepted certain patient engagement methods or processes because I think you can learn a lot from the narratives behind the categorical answers. And yeah, I mean, I have some still have some issues to work out, you know, especially I think the main one is that I want to include people who've had a diverse range of advocacy roles. But I don't necessarily know what the full range of advocacy roles is going to be before I go win. So I have to do some scoping first and then sit back and try to code them and figure out, okay, what is the scope of activities I want to really make sure I include and reflect in this sample and then go back and kind of try to sample them iteratively. So really qualitative stuff. But and I'm not sure whether I should exclude really recent diagnoses because I just think especially in the ALD bucket that's such a crazy time. I can't imagine people will have time to speak to me at length about this. But it's also I think an important observation is to kind of find out what people who are recently diagnosed need and don't need. So those are things I'm working out and I would really appreciate anybody's feedback either by email or later today. And just to sort of summarize, I think, you know, the implications of this work could be helpful. Many rare disease advocates really feel like they're the people who invented patient engagement. And I think with it being about a 30 year history of that, it's time for us to take stock of it and figure out what lessons have been learned. And I think also advocates have found it hard to represent everyone. And now that engagement has scaled up and become this broad national push. We have to figure out whether and why that matters. And then PCORI is actually going to basically preferentially award money to groups that do well at patient engagement. So, you know, if rare disease groups don't get this right, then they're going to get squeezed out, I think, of what's right now a kind of unprecedented opportunity to get funding. And because I'm a bioethics student, I have to have a conceptual question. And so my conceptual question is looking at the relationship between patient advocacy and patient engagement and research and figuring out whether there should be different rules of play and methods for each. So I went through that quite quickly, but yeah, I hope to hear your thoughts later on. Thanks. I have a question that's more of a process question that I think could be applicable potentially to all of you, but I can imagine you each answering it somewhat differently. So for people in the room who are thinking about engaging themselves in other people's research teams or with other groups to help address a research question or potentially engaging in collaborations around a question. Do you have thoughts about how that's worked for your studies? I originally thought of this when Julie and Danielle were talking about how that collaboration happened, which might role model for some of the other alums or for current students. But I think all of you may have something to say about how you engage with a specific team or build collaborations to answer a question. Yeah. So I have a really great experience with that and a really not so great experience with that. This was the not so great experience. But I don't want to I'm sure other people have things to say, but I'll just say that this was a really difficult situation initially when the money was awarded because everybody knew I was a PhD student interested in research. But at Kennedy Krieger, my job was not a research job. There was no dedicated time for research. I had no research funding and I was supposed to be covering Julie Cohen's maternity leave when all this was going down. So and then when the funds were awarded, there was a lot of squabbling about how they were actually going to be dispersed and spent. And so I don't know that I could have done much about that other than I think I probably shouldn't have really gotten involved because there was no compensated time set aside for me. I knew I was leaving the job anyway, so I didn't care that much. I was just concerned about doing the work. But my my my other project aside from this is working on the Med Seat study with Amy McGuire's team down at Baylor College of Medicine and that's also a really big collaborative project and it's it works very, very well. You know, we're collaborating with Brigham and Women's Hospital and with Duke University and everybody's doing all different things and there's different arms to the project. And it's so structured and so well organized that I think I'm I'm glad I have a model for how to do it right. But I'll be more careful, I think in the future about identifying those characteristics. Mm hmm. So it's really interesting. I wonder about what you think about including muscular dystrophy. And this is completely biased question because of working closely with Holly on the clinical trial studies. I wonder if groups that have clinical trials available to them as part of the research aren't going to have quite different responses to this. And and I wonder what you thought about that. Yeah, absolutely. So actually because the River La LD does have a clinical trial now too. So I did think about that. Absolutely. And the two of those two groups are actually similar in that regard. The one that I'm not sure about is feeling McDermid feeling McDermid is the real odd one out there. And the reason I included it is in a way because I just wanted to reflect, you know, the diversity of childhood illness experiences. But you're right. I think them being different in that way could really matter. And I'm actually supposed to speak with them next week. And I may learn something about the clinical trial landscape that would change my mind, but that's important consideration for sure. Yeah.