Latest / Amplify: A Podcast Powered by Patient Voice Partners / From Caregiver to Changemaker: Transforming Rare Disease Advocacy Through Policy

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From Caregiver to Changemaker: Transforming Rare Disease Advocacy Through Policy · Amplify: A Podcast Powered by Patient Voice Partners

• 0:01
  SPEAKER_05: Welcome to Amplify, Elevating Patient Voices, a podcast powered by patient voice partners where real stories spark bold conversations.
• 0:11
  SPEAKER_05: I'm Ursula Mann.
• 0:12
  SPEAKER_01: And I'm Brent Cordy.
• 0:14
  SPEAKER_01: Together, we're talking with patients, caregivers, and the healthcare change makers who are listening and taking action.
• 0:21
  SPEAKER_05: From personal journeys to policy shifts, these are the voices shaping a healthcare system that listens.
• 0:32
  SPEAKER_04: I'm on today with my co-host, Barry.
• 0:34
  SPEAKER_04: Barry, it's been a little bit.
• 0:36
  SPEAKER_04: How are you doing?
• 0:36
  SPEAKER_04: What's going on?
• 0:38
  SPEAKER_00: Doing great.
• 0:38
  SPEAKER_00: It's been it's been a bit.
• 0:40
  SPEAKER_00: Miss you, miss the opportunity to spend some time with patients.
• 0:43
  SPEAKER_00: And people who are advocating on behalf of patients have been focused more on policy stuff, which is fun, but you know, it can be a little dry sometimes.
• 0:50
  SPEAKER_00: So excited about today.
• 0:52
  SPEAKER_04: Well, we're delighted to have you back to do this show.
• 0:55
  SPEAKER_04: And I know the person that's coming on today is really near and dear to you.
• 0:58
  SPEAKER_04: So tell us what's happening on the policy front, fill people in as to what are you up to now.
• 1:03
  SPEAKER_00: Well, I know that this podcast may be heard over maybe decades.
• 1:07
  SPEAKER_00: So we're in a point right now in the United States where policies are changing very quickly, and that's exciting and challenging at the same time.
• 1:14
  SPEAKER_00: So a lot being done in healthcare.
• 1:17
  SPEAKER_00: We've got the FDA making some very rapid changes, CMS Medicare also making changes in terms of how they're going to pay for drugs and devices.
• 1:27
  SPEAKER_00: And so that can be a great opportunity.
• 1:31
  SPEAKER_00: I think it's also a great opportunity for us to really focus on making sure that everybody gets it done right and that we don't lose what's most important to patients as we go through the process.
• 1:40
  SPEAKER_04: I always find it interesting because when I started working in policy, I had no appreciation because you don't know what you don't know as to how long it takes.
• 1:47
  SPEAKER_04: It's a labor of love that you're in it to win it for the long run.
• 1:50
  SPEAKER_04: And you got to be working on it for years to really make things happen.
• 1:54
  SPEAKER_04: So I find that really fascinating.
• 1:56
  SPEAKER_04: And I've been part of changing policies, and now I've seen that go.
• 1:59
  SPEAKER_04: And it's pretty spectacular and rewarding and exciting when you get to the end.
• 2:03
  SPEAKER_04: But sometimes people remember the end without knowing the process and everything that goes on.
• 2:07
  SPEAKER_04: So tell us a little bit about today's show and what comes to mind when you think of Annie, because you guys have known each other for a while.
• 2:15
  SPEAKER_00: Yeah, Annie Kennedy and I have known each other for a few years.
• 2:18
  SPEAKER_00: I first met her when I was working for a medical device company and I was shifting roles from government affairs policy-oriented towards patient engagement.
• 2:28
  SPEAKER_00: I mean, I kind of thought I knew what I was doing, but I really wanted some help.
• 2:31
  SPEAKER_00: And so I reached out to some friends and they connected me to Annie and some others, and we all got together for dinner one night.
• 2:38
  SPEAKER_00: She is an amazing individual.
• 2:39
  SPEAKER_00: She's done so much to impact public policy in a positive way.
• 2:43
  SPEAKER_00: I didn't really necessarily know it all at the time I met her, but over the years, I discover Annie's fingerprints are on all sorts of different either pieces of legislation or policies that the patient community is now around the world benefiting from.
• 2:58
  SPEAKER_00: It's not just the US.
• 3:00
  SPEAKER_00: Because US FDA is turned to by a lot of regulatory agencies around the globe as kind of a leader, they tend to follow suit.
• 3:09
  SPEAKER_00: And so the impact for patients, particularly in the world of patient experience data and trying to take into consideration what really matters most to patients was a topic near and dear to my heart.
• 3:20
  SPEAKER_00: Annie is really the leader in developing that and making that happen.
• 3:23
  SPEAKER_00: So I'm excited to chat a little bit more about uh how she got that done and maybe she can share some secrets.
• 3:29
  SPEAKER_00: We'll see.
• 3:30
  SPEAKER_04: I love that.
• 3:31
  SPEAKER_04: If changing policy is not part of the definition of change maker, I don't know what is.
• 3:35
  SPEAKER_04: And as you know, we have changemakers on the show, everything from individuals making changes in their own life for patient caregiver stories at times to people within systems.
• 3:44
  SPEAKER_04: That's really exciting.
• 3:45
  SPEAKER_04: Let's dive in.
• 3:46
  SPEAKER_04: So, Annie, welcome to today's show.
• 3:49
  SPEAKER_04: And we're delighted to have you here today.
• 3:51
  SPEAKER_06: Well, thank you.
• 3:52
  SPEAKER_06: I've been dying to dive into this conversation.
• 3:54
  SPEAKER_06: So thanks so much for having me.
• 3:56
  SPEAKER_04: That's fantastic.
• 3:58
  SPEAKER_04: So take us back.
• 3:59
  SPEAKER_04: How did things come to be as to why you got into the type of work you're doing?
• 4:05
  SPEAKER_04: What was happening personally?
• 4:07
  SPEAKER_06: I in a million years would not have thought I was working in policy, that's for sure.
• 4:13
  SPEAKER_06: I had personal connections in my family to muscular dystrophy.
• 4:18
  SPEAKER_06: And so as a young teenager, I started volunteering for a summer camp for kids with neuromuscular diseases and did that throughout my teen years.
• 4:30
  SPEAKER_06: And that piqued my interest in medicine.
• 4:33
  SPEAKER_06: And so I spent time through high school volunteering in emergency rooms because I was pre-HIPAA.
• 4:39
  SPEAKER_06: So you could do really cool things in the emergency room overnight.
• 4:43
  SPEAKER_06: And then my degree was in biopsychology, which we now call neuroscience.
• 4:49
  SPEAKER_06: And I was pre-med and was very focused on going into medicine.
• 4:54
  SPEAKER_06: That was my target all along.
• 4:56
  SPEAKER_06: And then the spring of my senior year of college, someone very close to me who I love very much was diagnosed with a rare, very aggressive, rapidly progressing form of cancer.
• 5:09
  SPEAKER_06: And that caused me to change the plan for not going immediately to medical school, but being a part of his care team for his journey.
• 5:19
  SPEAKER_06: And when he was first diagnosed, he was given 13 weeks to live.
• 5:24
  SPEAKER_06: He ultimately lived for 17 months.
• 5:27
  SPEAKER_06: But I would not have told you at the time that I was learning to be a caregiver.
• 5:31
  SPEAKER_06: I was learning to navigate the medical system from the bedside and from he was served at the University of Maryland Medical Center, the Greenberg Center.
• 5:40
  SPEAKER_06: I was learning from the inside out that as a 23-year-old, you fall between the cracks.
• 5:44
  SPEAKER_06: You're not quite pediatric, you're not quite an adult.
• 5:48
  SPEAKER_06: People aren't sure which floor you fit on sometimes.
• 5:51
  SPEAKER_06: He was never eligible for a clinical trial because he was only one of three people to have ever had this form of cancer.
• 5:59
  SPEAKER_06: The other two were not living at the time that he was diagnosed.
• 6:02
  SPEAKER_06: The larger organizations didn't really even know the cancer that he had.
• 6:07
  SPEAKER_06: So he just didn't fit.
• 6:08
  SPEAKER_06: And we didn't even know the term rare at the time.
• 6:11
  SPEAKER_06: But at the end of all of that, going to medical school didn't feel right.
• 6:16
  SPEAKER_06: So it was sort of what's next.
• 6:18
  SPEAKER_06: And so I actually ended up working for the Muscular Dystrophy Association, which is where I had volunteered or at that camp for so long, and became a direct service provider in the community and would coordinate neuromuscular clinics at Hopkins and Georgetown and Children's National Medical Center and facilitate support groups.
• 6:37
  SPEAKER_06: And was in the spaces with families as they were first receiving their diagnoses and became a direct advocate for families.
• 6:45
  SPEAKER_06: Wow.
• 6:46
  SPEAKER_06: That's when we didn't have clinical trials at the time.
• 6:49
  SPEAKER_06: Natural history studies were just a mere concept.
• 6:52
  SPEAKER_06: Research was just starting.
• 6:54
  SPEAKER_06: Animal models didn't really exist.
• 6:56
  SPEAKER_06: There was no funding going into neuromuscular research.
• 7:00
  SPEAKER_06: But what was happening was families were receiving diagnoses and then hitting real barriers because there weren't resources.
• 7:07
  SPEAKER_06: So prescriptions were being written for durable medical equipment, but families were finding themselves ineligible for the resources, or families were going into school systems and needing supports, but the resources and services they needed to be provided just truly didn't exist.
• 7:22
  SPEAKER_04: And you saw firsthand the resources that were needed because you were thinking.
• 7:27
  SPEAKER_06: And what I realized was the lack of systems to support families who were being diagnosed with these diseases just completely didn't exist.
• 7:37
  SPEAKER_06: And what I would describe was not a broken system, but the lack of systems to support families, because the systems we have weren't built to support our rare disease community.
• 7:52
  SPEAKER_06: And so that's what thrust me into policy was that sense of frustration and the unwillingness to accept the status quo, that we have the power and the ability to change that.
• 8:04
  SPEAKER_06: And we needed to, not on the micro, but on the macro, that we needed more funding, more infrastructure resources, but also to change benefit eligibility, to change what was causing people to say no, what was causing people to hit those walls.
• 8:23
  SPEAKER_04: So, Annie, let's go back, thinking back to as you were living it.
• 8:27
  SPEAKER_04: And thank you for sharing that story.
• 8:29
  SPEAKER_04: And I'm so sorry for everything that my heart was thinking as you're describing.
• 8:33
  SPEAKER_04: I can't imagine how stressful and sad that was at the time.
• 8:35
  SPEAKER_04: And I'm sorry for the situation.
• 8:37
  SPEAKER_04: There are other people listening that are in the midst of going through this as a caregiver.
• 8:41
  SPEAKER_04: And I appreciate using that word because we even have conversations where people want to know, they don't give themselves permission to use that word.
• 8:47
  SPEAKER_04: They're like, I'm not a caregiver.
• 8:48
  SPEAKER_04: I'm a spouse, a parent, a child, I'm in the family.
• 8:52
  SPEAKER_04: What advice do you have for people that are managing?
• 8:54
  SPEAKER_04: I don't know if it sounds like you took time off work at the time or you took pause.
• 8:58
  SPEAKER_04: And what would you go back and tell your earlier self as well in that time period?
• 9:03
  SPEAKER_06: That's a really good question.
• 9:04
  SPEAKER_06: It was a really long time ago.
• 9:05
  SPEAKER_06: What advice would I give myself?
• 9:07
  SPEAKER_06: I think what was happening was all of my plans were rapidly changing.
• 9:11
  SPEAKER_06: So I wasn't in graduate school.
• 9:12
  SPEAKER_06: I got a job that would allow me to be flexible so that I could work more flexible daytime hours and then I could do essentially a night shift and be there at nighttime and do evening care for him.
• 9:25
  SPEAKER_06: I think the advice I would give myself is just to have grace with myself.
• 9:30
  SPEAKER_06: I think I was really hard on myself.
• 9:32
  SPEAKER_06: I was working a full-time job.
• 9:35
  SPEAKER_06: I was there at night providing care.
• 9:37
  SPEAKER_06: I was trying to learn a lot of medical procedures, learn how to do a lot of care.
• 9:42
  SPEAKER_06: Nurses were providing training to you, and you were learning how to do that.
• 9:45
  SPEAKER_06: When he was in the hospital, you were learning how to be a medical advocate for the first time.
• 9:49
  SPEAKER_06: And I was 22.
• 9:50
  SPEAKER_06: So you were learning all of that alongside his mom.
• 9:54
  SPEAKER_06: And you just felt like you were supposed to know it all.
• 9:57
  SPEAKER_06: You didn't give yourself permission to realize you were learning it.
• 10:01
  SPEAKER_04: That's a lot of pressure.
• 10:03
  SPEAKER_06: And so I think the advice I would give to caregivers is permission to not feel like you have to be the expert and permission to learn from others who've gone before.
• 10:15
  SPEAKER_04: Thank you for sharing that.
• 10:17
  SPEAKER_00: So you went through a lot and you got to this point where you've realized that there wasn't a system.
• 10:21
  SPEAKER_00: It wasn't just that it was broken, it was just didn't exist and something needed to be built for people, particularly in the rare disease space.
• 10:28
  SPEAKER_00: What really got you to think that you could do that?
• 10:31
  SPEAKER_00: I mean, obviously the Muscular Dystrophy Association had advocacy capabilities.
• 10:36
  SPEAKER_00: I imagine you fit into that, but I think for a lot of other people, it's pretty overwhelming to think that they could activate and try to help and make a change at a societal level as opposed to just their own lives.
• 10:48
  SPEAKER_00: What got you to think that you could do that?
• 10:51
  SPEAKER_06: Well, ironically, MDA didn't do advocacy.
• 10:55
  SPEAKER_06: So that was one thing MDA wasn't doing.
• 10:58
  SPEAKER_06: And so I did eventually, but it took, I think it was 12 years later, opened MDA's first national advocacy office.
• 11:07
  SPEAKER_06: So it was a matter of having to pave roads that had not existed.
• 11:11
  SPEAKER_06: And in very large organizations, create sort of new in-roads and partner with a lot of other organizations.
• 11:18
  SPEAKER_06: So find the partners who wanted to do the work.
• 11:20
  SPEAKER_06: There were other organizations and other communities starting up.
• 11:24
  SPEAKER_06: The first bill that was established was created through momentum that was created by other organizations.
• 11:30
  SPEAKER_06: So MDA partnered with Parent Project Muscular Dystrophy to create incredible legislation that we've now reauthorized multiple times that created that infrastructure for research and therapeutic development and clinical trials that really moved the needle in muscular dystrophy.
• 11:47
  SPEAKER_06: But it was finding those partnerships and finding advocates who would help agitate for that.
• 11:53
  SPEAKER_06: I think, like many patient advocates, it was that sense that there was an indignity happening around you and there was no choice, but we had to make a change.
• 12:06
  SPEAKER_06: We had to make it better.
• 12:07
  SPEAKER_06: I think it's that fire in your belly.
• 12:10
  SPEAKER_06: The way I describe it now is there's that quote, you're not at the table, you're on the menu.
• 12:15
  SPEAKER_06: And I often like to say we take that one step further in advocacy.
• 12:21
  SPEAKER_06: It's not so much that we have to be at the table, it's our table.
• 12:25
  SPEAKER_06: I love that.
• 12:27
  SPEAKER_06: And so there's that it's that sense of no, no, no, you don't get to decide whether we're at the table.
• 12:33
  SPEAKER_06: It's our table.
• 12:35
  SPEAKER_04: I'm gonna have to quote you on this, Annie.
• 12:37
  SPEAKER_04: That's important.
• 12:38
  SPEAKER_06: So until that's the way the ecosystem regards us, until that's the way policies define us, until that's the way, and since that time, we've spent so much time developing evidence-based policy that reflects that sentiment.
• 12:54
  SPEAKER_04: So, Annie, take us back to that conversation at MD.
• 12:59
  SPEAKER_04: You said they weren't doing advocacy.
• 13:01
  SPEAKER_04: And this is an interesting movement to start doing advocacy.
• 13:05
  SPEAKER_04: But at the time in those internal conversations, tell us how you were defining advocacy.
• 13:10
  SPEAKER_04: Because it's interesting that not everybody thinks it at the same time.
• 13:13
  SPEAKER_04: So, how what was that conversation internally and how are you defining it?
• 13:18
  SPEAKER_06: So, this is going way, way back decades.
• 13:20
  SPEAKER_06: I think at that time, that was a very large organization that had a very strong history in funding research and providing services.
• 13:28
  SPEAKER_06: And that was what that organization, which was an incredible organization, had been established to do.
• 13:34
  SPEAKER_06: So I think anytime you take a large organization and try and shift a mission, there's always a little bit of fear about getting into something new.
• 13:43
  SPEAKER_06: So the way that paradigm shifted was that I was invited to serve as the national director of the ALS division for Lou Gerg's disease.
• 13:53
  SPEAKER_06: And so what I asked then, the leadership of MDA, was to enable me to start doing advocacy just within ALS.
• 14:02
  SPEAKER_06: So we started actually working on an advocacy effort related to CMS for ALS.
• 14:09
  SPEAKER_06: So we just started in one area, in one space, and we were successful, and it was safe.
• 14:15
  SPEAKER_06: It was sort of de-risked for the organization.
• 14:17
  SPEAKER_06: And when they found out that that worked, then we could move into bigger, larger spaces.
• 14:22
  SPEAKER_06: And that's how MDA's paradigm shifted to the point where we then established a national advocacy office for MDA and broadened it to all 43 neuromuscular diseases.
• 14:34
  SPEAKER_06: But then I will say, then my interest then became really looking at regulatory opportunities.
• 14:40
  SPEAKER_06: And that's where Barry and I started working together because I was very interested in what was happening in the regulatory environment because now research was moving, research pipelines were moving, and there were so many opportunities to ensure that patient experiences were being incorporated into decisions that regulators were making.
• 15:02
  SPEAKER_06: So clinical trial decisions, the regulatory review, and that we didn't have an ecosystem that was allowing for that, and we needed to do better.
• 15:12
  SPEAKER_06: In particular, the pipelines within the neuromuscular space that were moving the fastest were the SMA pipeline, the Duchesne pipeline, and the ALS pipeline.
• 15:21
  SPEAKER_06: They were really the first ahead.
• 15:23
  SPEAKER_06: And when you looked across the ecosystem at all the different organizations that may have the ability to bring in very targeted advocacy efforts around that, one of the strongest was Parent Project Muscular Dystrophy.
• 15:37
  SPEAKER_06: And then the one in the next was Cure SMA.
• 15:39
  SPEAKER_06: And so I actually then moved to PPMD professionally, and then I joined the board of Cure SMA.
• 15:46
  SPEAKER_06: And so worked very closely with those communities to sort of build out their work around regulatory infrastructure, newborn screening, like the work that needed to get wrapped around ensuring that, again, patients and patient experience were integrated into those decisions so that we could, again, build the roadmaps.
• 16:08
  SPEAKER_00: And that's huge because I think that for me, the amazing part of this is where rare disease really was the lead in getting a law change that actually changed it for every disease.
• 16:21
  SPEAKER_00: It's not just rare.
• 16:22
  SPEAKER_00: So, Amy, tell us a little bit about what the provision was that I believe that you put in through the 21st Century Cures Act back in, I think it was 2016.
• 16:31
  SPEAKER_06: Yes.
• 16:32
  SPEAKER_06: So then sort of as we were learning what was working in, you know, select disease spaces.
• 16:37
  SPEAKER_06: What was always really important to us is as we were doing this work.
• 16:40
  SPEAKER_06: So for example, in Duchesne, Duchesne was the first community that wrote guidance.
• 16:44
  SPEAKER_06: We always would write the methodology alongside it so that other communities could learn from it.
• 16:49
  SPEAKER_06: And it was always important that, as Barry was saying, in rare, what happens in one disease doesn't only benefit that one disease that other communities will benefit.
• 16:58
  SPEAKER_06: And that's the only way we in Duchesne could not have learned and done what we did without learning from the CF community and the HIV communities, communities that gone before.
• 17:07
  SPEAKER_06: So I think all rare communities feel this way.
• 17:10
  SPEAKER_06: We always want to be paying it forward.
• 17:12
  SPEAKER_06: So one of the things we were learning, though, is that as the patient-focused drug development movement was growing and building and evolving, we weren't sure how this data was being used.
• 17:24
  SPEAKER_06: And one of the things we were hearing was oftentimes from industry partners that they needed signals from FDA that it was worth investing in, that the collection of this data was worth investing in and that scaling up their departments internally was worth doing.
• 17:39
  SPEAKER_06: And social scientists needed that too.
• 17:42
  SPEAKER_06: So we needed to formalize and codify how that was being done.
• 17:45
  SPEAKER_06: So we worked with Congress to develop legislation that would do that, that would create a structure around how patient experience data was incorporated into regulatory review so that it would be standardized, so that it would be consistent, and so that it would send that signal that it was here to stay and that it was worth investing in.
• 18:10
  SPEAKER_06: So it was called the Patient Focused Impact Assessment Act, and it was passed into law and then became the essentially the patient experience data provision of the 21st Century Cures Act.
• 18:23
  SPEAKER_00: And tell us a little bit about what is patient experience data from your perspective or at least what was being contemplated at the time.
• 18:31
  SPEAKER_06: Well, actually, more importantly, patient experience data then got defined in the 21st Century Cures Act.
• 18:37
  SPEAKER_06: If you'd asked Barry, he probably, I'm sure, could have told you what he thought patient experience data was.
• 18:41
  SPEAKER_06: I could have told you what I thought patient experience data was, but very importantly, it now has a statutory definition in 21st century cures.
• 18:49
  SPEAKER_06: So that it doesn't matter what Barry and I think it is.
• 18:52
  SPEAKER_06: There is a definition around it that actually Barry and I are among the group that helped inform what it is.
• 18:59
  SPEAKER_06: And it helps guide product developers, regulators, those in the access ecosystem as to what types of data they should be collecting.
• 19:09
  SPEAKER_06: But in short, it's data that reflects the lived experience of patients.
• 19:15
  SPEAKER_06: So it can come from real-world data collection.
• 19:18
  SPEAKER_06: It can come from Apple watches that people are wearing.
• 19:21
  SPEAKER_06: It can come from data collected in clinical trials, but it has to be data that correlates with how patients feel, how patients function, and has to be anchored to what patient communities say is meaningful to their daily experience.
• 19:36
  SPEAKER_06: And it has to be incorporated into those regulatory decisions and those access decisions that ultimately impact whether products become available at the end of the day.
• 19:49
  SPEAKER_06: And that was incredibly important when that happened.
• 19:52
  SPEAKER_04: And I'm getting goosebumps.
• 19:54
  SPEAKER_00: Yeah, and I think from my perspective, it's really exciting because I think from my perspective, what really helped, you mentioned industry and partners in industry.
• 20:02
  SPEAKER_00: And I think that's something that what a lot of people don't really understand is the importance of that partnership and collaboration with industry stakeholders, particularly in rare disease in the rare disease community.
• 20:14
  SPEAKER_00: I heard a story where PPMD Parent Project for Muscular Dystrophy had put together essentially a report on what mattered most to patients through data that they collect, experience data, survey data that had helped establish clear outcomes that really were the most important outcomes to that community.
• 20:36
  SPEAKER_00: And that helped industry come to the table and figure out, in fact, even prompted some innovators to come up with ideas on how to treat certain aspects of the disease and really what to focus on what mattered most.
• 20:49
  SPEAKER_00: And that is a that's almost a flip from what my experience has always been is here we have the patient community basically telling industry this is what we need, and industry then coming to the table and generating that.
• 21:00
  SPEAKER_00: And I wonder, Annie, as you've moved forward beyond PPMD and moved over into Every Life Foundation, tell us a little bit about Every Life Foundation and what you guys are trying to do and what your current challenges are in terms of the next steps.
• 21:13
  SPEAKER_00: Because I know that was very successful back in 2026 ago.
• 21:16
  SPEAKER_00: That's crazy.
• 21:17
  SPEAKER_00: Where are we going now in terms of what we need to change?
• 21:20
  SPEAKER_06: I definitely want to talk about it really life, but can I just give you an example from the patient preference studies and why they matter so much?
• 21:26
  SPEAKER_06: Because I think the nuance is what matters most and people don't always appreciate.
• 21:31
  SPEAKER_06: So patient preference studies are things that a lot of patient communities have been undertaking in partnership with social scientists and industry partners.
• 21:40
  SPEAKER_06: And they're not just surveys that get sent to patient groups.
• 21:44
  SPEAKER_06: They're very sophisticated studies that look at the attributes that could be obtained from targeted products within specific subpopulations in that community.
• 21:56
  SPEAKER_06: So that Duchenne study that very so the Duchenne.
• 22:00
  SPEAKER_06: Done a number of them.
• 22:01
  SPEAKER_06: But that one that Barry's talking about in particular was around a specific product.
• 22:06
  SPEAKER_06: And what they did is they structured it looking at the sub-populations in the community and what the risk tolerance threshold was for side effects and benefits of that product.
• 22:18
  SPEAKER_06: And I'll give you an example.
• 22:21
  SPEAKER_06: So they looked at different side effects that you could have from that product versus different benefits and where the threshold would be for yes, that would be worth it for this benefit.
• 22:32
  SPEAKER_06: And in that population, you have young people who are walking ambulatory and young people who are non-ambulatory, not walking.
• 22:39
  SPEAKER_06: And one of the side effects would be diarrhea or loose stool.
• 22:44
  SPEAKER_06: Well, if you're walking and you have diarrhea, that has very different versus if you're not walking and you're not ambulatory and you have diarrhea as a side effect.
• 22:56
  SPEAKER_06: And getting that structured data for an industry partner who's developing a product is really important to understand from a patient community.
• 23:05
  SPEAKER_06: I will take this side effect over that one for this much benefit versus that much benefit.
• 23:11
  SPEAKER_06: And so being able to incorporate that kind of headache, diarrhea, kidney concerns, et cetera, into data that then can be brought to an industry partner and then importantly brought to a regulator so that when they're making regulatory decisions, you can say, this is what the patient community said matters to them.
• 23:31
  SPEAKER_06: And what's the threshold?
• 23:33
  SPEAKER_06: How much of the side effect would you tolerate for this much gained function on a disease that is known to be life limiting?
• 23:43
  SPEAKER_06: So those are things that are incredibly important.
• 23:46
  SPEAKER_06: I didn't want to move off that too quickly because you cannot underscore the importance of those pre preference studies enough because you're doing that across the community.
• 23:55
  SPEAKER_06: You're not just asking one person what they care the most about.
• 23:58
  SPEAKER_06: You're asking the community.
• 24:00
  SPEAKER_04: It's a fantastic example.
• 24:03
  SPEAKER_04: And I appreciate the detail because I also don't want people to think it's a simple survey because it's not.
• 24:08
  SPEAKER_04: And that can really be misunderstood at times.
• 24:11
  SPEAKER_04: So thank you.
• 24:12
  SPEAKER_04: That was fantastic.
• 24:14
  SPEAKER_00: What's your role in every life and where are you guys headed?
• 24:16
  SPEAKER_00: What's the vision or the mission as the chief mission officer of Every Life?
• 24:20
  SPEAKER_00: Where are you guys trying to help rare disease as we go forward?
• 24:24
  SPEAKER_06: So I serve as the chief mission officer of the Every Life Foundation.
• 24:27
  SPEAKER_06: We're an evidence-based policy and advocacy organization.
• 24:31
  SPEAKER_06: So to that end, we are really focused on doing a couple of things.
• 24:35
  SPEAKER_06: The first is that we want to optimize health outcomes through policy for the rare disease community.
• 24:43
  SPEAKER_06: And we want to do that broadly.
• 24:44
  SPEAKER_06: So we're really looking for those policy opportunities that will lift all votes in rare.
• 24:51
  SPEAKER_06: And we work with patient advocacy organizations and biopharmaceutical partners and other coalitions in the rare community to really help prioritize where those opportunities are.
• 25:01
  SPEAKER_06: And I'll come back to that in one second.
• 25:04
  SPEAKER_06: But the other thing that we do is we are very committed to ensuring that elected officials are accessible to the rare disease community.
• 25:12
  SPEAKER_06: And that's our advocacy arm.
• 25:15
  SPEAKER_06: And we also work to dispel the myth of advocating.
• 25:18
  SPEAKER_06: So every advocate should feel equally as motivated as I did and equally as emboldened as I did to say, I can change this.
• 25:28
  SPEAKER_06: I can change something.
• 25:30
  SPEAKER_06: So we have policy trainings, primers, monthly webinars.
• 25:36
  SPEAKER_06: We have a legislative glossary that if you don't know what PADUFA means, you can find out.
• 25:41
  SPEAKER_06: And we have a webinar and a training tool about it.
• 25:44
  SPEAKER_06: What does PADUFA mean?
• 25:45
  SPEAKER_06: And opportunities for plugging in.
• 25:47
  SPEAKER_06: It is the prescription drug user fee act.
• 25:50
  SPEAKER_06: It is must-pass legislation, and it has become the infrastructure that has changed much of how products are regulated at FDA.
• 25:59
  SPEAKER_06: And it is a big deal in the drug development ecosystem, but especially in the rare disease space.
• 26:04
  SPEAKER_06: But we also have events throughout the year.
• 26:07
  SPEAKER_06: We host rare disease week in Washington, rare across America, but we bring advocates to their lawmakers in the state and the federal level.
• 26:15
  SPEAKER_06: Back to policy.
• 26:16
  SPEAKER_06: We have been working to fill those evidence gaps.
• 26:19
  SPEAKER_06: So we work with our coalition to identify where's the data missing?
• 26:23
  SPEAKER_06: What are the assumptions about rare disease and how do we fill those gaps?
• 26:26
  SPEAKER_06: And then once we've done that, we've published the National Economic Burden of Rare Disease study because people were just guessing and making up numbers about rare disease.
• 26:37
  SPEAKER_06: And we can't change policy if we don't actually know what it means to live with a rare disease.
• 26:44
  SPEAKER_06: And what we found collectively as a community, that it cost in 2019 close to a trillion dollars to be living with a rare disease in the US.
• 26:54
  SPEAKER_06: And what was most important about that study was that 60% of those costs were cost being shouldered directly by families.
• 27:00
  SPEAKER_06: Those were not direct medical costs.
• 27:02
  SPEAKER_06: So what that means to us is that we are not funding the rare disease health priorities at a level that matches the urgency of our rare disease community.
• 27:13
  SPEAKER_06: So that was able to shift how we advocated for appropriations and resources for our federal agencies.
• 27:20
  SPEAKER_06: And it shifted the conversations on the hill with lawmakers.
• 27:23
  SPEAKER_06: That's how we take that data and we change the conversation.
• 27:27
  SPEAKER_06: It also changes how we talk about therapeutic development.
• 27:31
  SPEAKER_06: If what we find is that less than 16% of the economic impact of rare disease is prescription drug costs, then let's stop talking about prescription drug costs.
• 27:40
  SPEAKER_06: Let's talk about investing in rare disease research.
• 27:44
  SPEAKER_06: That's the kind of thing that we can do without data.
• 27:46
  SPEAKER_06: We have a similar Medicaid study getting ready to come out so that we can be protecting Medicaid resources for our rare disease community.
• 27:53
  SPEAKER_06: So those are the kinds of things that we do in policy.
• 27:56
  SPEAKER_00: Yeah, it's really exciting.
• 27:58
  SPEAKER_04: Annie, I love the highlights of data that's important and showcasing that.
• 28:03
  SPEAKER_00: Yeah.
• 28:03
  SPEAKER_00: I wonder, Annie, real quick before we wrap up, what's the one thing that you're most proud about having achieved over the last few years in your roles?
• 28:12
  SPEAKER_00: Is it the 21st Century Cures Act amendment that you got?
• 28:17
  SPEAKER_00: Or are there any other changes that you've made that have really helped patients directly?
• 28:22
  SPEAKER_00: Maybe it's just even one patient.
• 28:24
  SPEAKER_06: Well, yeah, I would say two things.
• 28:26
  SPEAKER_06: We have a real succinct focus on young adults, teens and young adults.
• 28:31
  SPEAKER_06: So we have training programs for teens and young adults so that they themselves can serve as patient representatives throughout our ecosystem on medical advisory boards, on advisory councils and federal agencies.
• 28:45
  SPEAKER_06: And seeing where those patient representatives are in the ecosystem is just a very proud moment for me.
• 28:52
  SPEAKER_06: And that's a growing program and it's incredible.
• 28:55
  SPEAKER_06: The other thing that to me is always a full circle moment is when you hear people using and citing the data that as a community we've worked so hard to create.
• 29:08
  SPEAKER_06: And people don't really either they're not citing us at all or they don't realize where it came from.
• 29:13
  SPEAKER_06: It's just now part of the common vernacular.
• 29:15
  SPEAKER_06: So whether that's a member of Congress or most importantly, an advocate who knows how to use those data sources and data citations to change something they're working on.
• 29:26
  SPEAKER_06: So many patient communities are working on bills that are just apply to their specific community, but they know how to pull in our data to do that.
• 29:36
  SPEAKER_06: Or it's somebody explaining their lived experience and they're pulling in a data citation.
• 29:41
  SPEAKER_06: That to me is a very proud moment when we've done that.
• 29:45
  SPEAKER_04: That's fantastic.
• 29:46
  SPEAKER_04: And thank you for all the work that you've done to change things for rare disease.
• 29:50
  SPEAKER_04: I live in this space.
• 29:51
  SPEAKER_04: I wish I didn't.
• 29:52
  SPEAKER_04: And it is true that when improvements happen somewhere, it helps other areas, it helps other diseases.
• 29:59
  SPEAKER_04: And so I really appreciate the conversation and the knowledge of all this phenomenal work you've been doing over so many years.
• 30:07
  SPEAKER_04: So I've certainly learned a lot today.
• 30:08
  SPEAKER_04: And I really appreciate the share.
• 30:10
  SPEAKER_04: But we like to end on a fun note and interested what's coming up for you that are really looking forward to.
• 30:16
  SPEAKER_04: I know there's some fun times with your son.
• 30:19
  SPEAKER_04: Tell us a little bit about that.
• 30:20
  SPEAKER_06: Yeah, so I'm a proud mom of a 15-year-old, six foot three teenager and getting to be the mom of a kid who's starting to think about colleges and dating.
• 30:34
  SPEAKER_06: It is a good time.
• 30:35
  SPEAKER_06: I really enjoy it.
• 30:37
  SPEAKER_06: So micromanaging my son's life is a really a lot of fun as I sort of root for his rise and look at what's next.
• 30:43
  SPEAKER_00: Well, your son's lucky.
• 30:45
  SPEAKER_06: I love it.
• 30:45
  SPEAKER_04: I love it.
• 30:46
  SPEAKER_04: We're gonna have to share more stories on that on the mom front.
• 30:49
  SPEAKER_04: So thanks for sharing to be continued.
• 30:51
  SPEAKER_04: Annie, I want to say thank you for this conversation today.
• 30:54
  SPEAKER_04: Barry, this has been really insightful on the policy front and pretty amazing to hear about some similarities and differences, but the highlights around working together and really taking the information that's important to highlight.
• 31:06
  SPEAKER_04: I think that's my big takeaway that I really appreciate from today, as well as just the sheer motivation.
• 31:11
  SPEAKER_04: We can change policy and it's working together and thinking about how we're going to go about doing that.
• 31:16
  SPEAKER_04: Absolutely.
• 31:17
  SPEAKER_06: Thank you for the opportunity.
• 31:19
  SPEAKER_06: This has been really wonderful.
• 31:24
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• 31:30
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• 31:36
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• 31:43
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• 31:47
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• 31:58
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• 32:01
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• 32:08
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• 32:10
  SPEAKER_04: Your voice matters.