Empowering Rare Disease Patients to Solve Problems - Annie Kennedy, Chief of Policy, Advocacy and Patient Engagement at the EveryLife Foundation


“Our rare disease community is looking to solve for many different types of policy barriers because we have a very diverse patient community,” says Annie Kennedy, who was drawn to the rare disease issue due to some personal experience early in her life. After spending many years as a patient advocate -- including being with patients during provider visits -- she has developed a keen understanding of where the healthcare system can be improved to do justice to rare disease patients and families. That insight informs her work as chief of Policy, Advocacy and Patient Engagement at the EveryLife Foundation where she helps provide patient communities with tools and resources they can use to make their voice heard in the policy arena. In fact, next week, EveryLife is holding its annual Rare Disease Week on Capitol Hill during which members of the rare disease community will meet with lawmakers in Washington to provide meaningful perspectives and encourage their support. “There are more than thirty million Americans living with rare diseases, so this is a real public health priority,” she tells Raise the Line host Michael Carrese. One resource EveryLife has brought to the table is a study on the total cost of living with a rare disease, not just the costs of medical care, which is helping to inform policy discussions. You’ll also learn about some key steps pharma companies, insurers and providers can take to support the rare disease community and where the field is heading in the next few years. Mentioned in this episode: https://everylifefoundation.org/




Michael Carrese: Hi, everybody, I'm Michael Carrese. Today on Raise the Line, we continue our focus on rare diseases with a member of the leadership team at EveryLife Foundation for Rare Diseases. That's a nonprofit group that helps patients make their voices heard in the public policy arena. Our guest is Annie Kennedy, a veteran leader in the rare disease patient advocacy movement, who joined EveryLife in 2018 as Chief of Policy, Advocacy and Patient Engagement. In that time, she led the National Economic Burden of Rare Disease study and the community-driven Guide to Patient Involvement in Rare Disease Therapy Development, among other initiatives. Annie has previously held leadership roles at Parent Project Muscular Dystrophy and the Muscular Dystrophy Association. She's a sought-after adviser to patient- centered organizations and initiatives across the nonprofit and government sectors. We're very pleased to have you with us today.


Annie Kennedy: Thanks so much. It's a delight to be here.


Michael Carrese: So, we always start with some personal and professional background from our guests. What first got you interested in the health healthcare space and muscular dystrophy in particular?


Annie Kennedy: I have a couple personal connections to rare disease. I have family members that have a form of muscular dystrophy. I also started at a very young age as a volunteer at a summer camp program for kids with neuromuscular diseases. So, from the age of fifteen, I just started in the summertime hanging out with teenagers and young adults like myself as a volunteer and became very committed to seeing what was happening for people like myself, and where the opportunities were and weren't as we were growing up together. Then I also had a very close friend who was diagnosed with a rare form of cancer when we were in our early twenties. So while I didn't have a term for it -- I wouldn't have known that these were rare diseases -- I was really affected very personally by the rare disease journey very early in my formative years.


Michael Carrese: With all that time in the muscular dystrophy space and patient advocacy, what are some big takeaways from that, that you brought with you to EveryLife?


Annie Kennedy: I actually started my career in the neuromuscular space, specifically and then, as you shared very generously in the description of my bio, worked in the muscular dystrophies, and ALS and spinal muscular atrophy, or SMA. As we were navigating patient advocacy, I spent a lot of time working in the clinic space with families as they would be receiving their diagnoses and part of their diagnostic journeys. Then my favorite role ever, that I spent many years doing, was as a personal advocate to families. I would go into schools and do presentations to classmates around what the child's diagnosis was and I eventually directed that summer camp that I had volunteered at for so many years.  


What I saw was that there were real barriers to access. For instance, after we had turned over every stone around benefit eligibility when we were trying to get equipment needs met; or there had been prescriptions written for families and we were trying to fill those prescriptions around equipment, or therapy or leg braces; there were just some times that those couldn't be fulfilled. There would be out of pocket costs and requirements, or families couldn't get access to the services they needed, whether it was physical therapy, or speech therapy. 


I really became infuriated and incensed by the injustice of that, and so that's really where my call to advocacy came from. We needed to fix that system. These diagnostic odysseys shouldn't exist, benefit eligibility should be standard, and that when a provider writes a prescription for a family because somebody needs that service or that benefit or that care, there should be a way to fulfill that, and "no" shouldn't be an acceptable answer.  


So, that's when I started to work in the advocacy space. I worked in advocacy for a number of different disease-specific spaces and as we were working on solutions within disease-specific spaces, I realized that what we needed within muscular dystrophy was not unique just to muscular dystrophy, and then what we needed within SMA was not unique just to SMA. So, the opportunity to work more broadly across the rare disease space and work on solutions that benefit all of our rare diseases was one that I just couldn't afford to pass up and to work with all of our partners on solutions that benefit all of us collectively.


Michael Carrese: Well, that all makes sense. So, give us the big picture view of EveryLife and where it fits in in this community.


Annie Kennedy: Sure. We are a rare disease policy organization. We have the privilege to be a coalition of organizations. So, we work with our rare disease partners -- patient advocacy organizations, biopharmaceutical industry partners, other coalitions, academics and researchers -- who share our priority around identifying where the policy opportunities and challenges are. 


We align around three key policy areas. The first is around eliminating the diagnostic odyssey in rare disease. The second is really focused on ensuring that those with rare diseases have approved therapies, and so we focus on policies that will create infrastructure for therapy development and resources for therapy development. Then the last is, very importantly, that once there are approved therapies, we believe that patients should have access to those approved therapies and so our third policy area is to work on that access environment for patients with rare diseases.


Michael Carrese: I'm just curious, when you're out speaking with policymakers and whatnot, are they surprised at how long it takes for these folks to get a diagnosis?


Annie Kennedy: Well, I think policymakers share our focus on solving for the problems in rare disease. If you're talking about Capitol Hill and members of Congress, this is a really exciting time, actually, because we have so many new members of Congress who just moved into their offices on Capitol Hill. It’s sort of like that freshman energy you have when you move into college and everyone's sort of figuring out where the bathrooms are and unpacking their dorm rooms. So, we have a lot of new potential. I like to think of it as a lot of new potential partners, right? A lot of new members who are figuring out what their priorities are going to be, what they're going to sort of put their flag in the ground around. So we're really excited in the rare disease community to build a lot of new champions.


I think your question is a really good one, and the fact of the matter is rare disease actually isn't that rare. So, while individually we might be representing diseases that impact only 500 people or 5,000 people, collectively, there are more than thirty million Americans living with rare diseases, so this is a real public health priority and a public health issue. So, when you talk to members of Congress around that, and then you talk to your point around how many years it takes to develop just one therapy, which is on average more than fifteen years, and how expensive it is to develop just one therapy, which can be trillions of dollars, you really grab people's attention. 


Now, when you think about the collective policymakers -- those at NIH and those at FDA and those at CDC -- we find those folks are leaning in with us to solve the problems. They understand the hurdles, but what they need are resources and there's so little funding in rare disease, so that's where we come in. Our role is to really look to increase their resources so that they can partner on the solutions with us.


Michael Carrese: I mentioned at the beginning that one of the approaches you take is to sort of empower the patient community, to give them a voice in the public arena. How do you go about doing that?


Annie Kennedy: So, one of the things I'm careful about, and I know you are careful about this too, is the words we choose. We don't feel like we “give” anybody a voice. Patients are the voice, right? One of my colleagues often says, "It's not that we make room at the table or get a seat at the table. It's our table as the patient community." So at EveryLife, what we really work to do is embolden the voice of patients, to make sure patients are empowered. If advocacy is something that's new to them, we help them to realize how they can utilize their journey and their story and connect it to whatever problem it is they're trying to solve for. 


Our rare disease community is looking to solve for many different types of policy barriers because we have a very diverse patient community that we're representing and those 10,000 rare diseases that we represent impact people very differently. What we look to do is create tools and resources to help patients whether they're solving for a barrier to a piece of equipment and reimbursement for that equipment, or barrier to diagnostics, or barrier to reimbursement for medical nutrition because that's what you depend on for life. We are providing tools and resources to help you either write legislation, or access your elected officials, or even provide resources to the patient community that you serve so you can explain what the legislative process is to empower that community. So, we provide lots of different tools and resources so that communities can pull them down and better serve their own communities as well.


Michael Carrese: Yeah, because obviously, it's kind of new territory for folks to sit down with an elected official or a pharmaceutical company or something like that, so that's great. I also mentioned that you were involved in this National Economic Burden of Rare Disease study. What are some main takeaways from that?


Annie Kennedy: That was a really important endeavor for us. One of the reasons being that when you're an individual living with a rare disease, or you have a family member who is, I think there are just a lot of things you understand about rare disease that you never actually see quantified or talked about in the public domain. What we really wanted to do was take the lived experience of rare disease and transform it into quantifiable data. Here in Washington, which is where we're based, we hear so much discussion around how policy is driven by evidence, and there are so many discussions around how basing what goes on to your formulary or how decisions are made about reimbursement are based on your numbers. But as you know, what you see on your explanation of benefits are the direct costs involved in your care. But when an individual is diagnosed with a rare disease, we know that that's just a piece of the pie, and what we really wanted to do was try and capture the full amount that it costs to live with a rare disease. 


What are the direct costs represented in the physician's visits and the hospital visits and the diagnosis and durable medical equipment, but also what are the costs involved with losing time from work because you're going to medical appointments; or because you've left the workplace because you have a child who has a diagnosis or a spouse who you're caring for; or because you travel great distances to go to your specialist, and that travel is not reimbursed. We wanted to capture all of that and quantify that, because that costs a lot of money. For a lot of our family members, they have to make modifications to their homes and vehicles, because they may have a loved one that uses a wheelchair. Those are out of pocket costs to do all of that. 


So, what we did is we actually conducted a study that included all of that so that we could get a real look at what is the impact of rare disease in the U.S. so that we can finally have some real policy conversations not just about those direct costs, but about the whole picture. I like to talk about as looking beyond the tip of the iceberg to look beneath the surface. What we found was really validating to our patient community. What we found was that the direct costs were only 40% of the overall cost. So, the 60% -- the larger piece of that pie, the under the surface, if you will, of that iceberg -- were costs that are shouldered directly by families and society. That's where we need to start having the discussion from because we can shift those costs, we can reduce those costs, we can work on better policies that better support Americans and community members who are living with rare diseases. 


Michael Carrese: So, what's an example of a solution that could help with that?


Annie Kennedy: Yeah, that's a super question. One of the things that we've been really looking for is there are a lot of communities who require dental procedures because of their diagnosis, and many of those dental procedures are not paid for. These are medical procedures, but these dental surgeries are not paid for. We have other communities who have diseases that require medical nutrition such as food supplements to keep them alive, and those supplements can cost two to ten thousand dollars a month. Those are out of pocket costs that families have to pay for to keep their children alive. 


Some of these conditions are actually screened for as part of a public health program, so the Secretary of Health and Human Services has acknowledged that these are serious life-threatening conditions that we have to screen for. We tell families when their baby is born that we have a treatment, but then we don't pay for the treatment as a society. So, we've been able to really raise the flag on this and now start to have real conversations around what these costs are. This is our evidence-based approach to policy: when we have the data we can start to solve for these issues.


Michael Carrese: Well, we've been talking about policy changes and we've already mentioned the new energy on Capitol Hill that you're hoping to tap into. At the end of the month, you have rare disease week on Capitol Hill. Tell us what you're planning for that, and how folks can get involved.


Annie Kennedy: This is one of my favorite weeks of the year. For the last couple years, we've done it virtually, which actually has been pretty powerful. But we're back in person. Rare Disease Day is the last day of February every year and so around that day, we convene what we call Rare Disease Week. It's an opportunity for members of the rare disease community to come to Washington and meet with their elected officials and talk about the priorities of the rare disease community and legislative solutions to those priorities and really just build champions. 

We're also very grateful that we have a Congressional rare disease caucus here in the U.S. 


Especially since we have so many new members of Congress, it's an opportunity for the rare disease community members who are meeting with their elected officials to introduce them to what rare diseases are and invite them to join the caucus and become champions for our community. We're also really grateful that we partner with some of our federal agencies. So, the National Institutes of Health and the Food and Drug Administration also host events around Rare Disease Week. We also then have a documentary screening that really highlights some themes that are important to our community, and we have a rare artist event. We have members of the rare disease community who are phenomenal artists who will be showcasing their work on Capitol Hill. So, we just have a lot of really wonderful events that highlight the strengths of our rare disease community, especially when we collectively come together and raise the profile of the power of this community.


Michael Carrese: And where can people go to find out more?


Annie Kennedy: They can go to EveryLifeFoundation.org and we have lots of really wonderful information for them to learn about rare disease week.


Michael Carrese: Great, we'll make sure that's in the show notes as well. So, it's the fortieth anniversary of the Orphan Drug Act this year, and for folks who remember President Reagan, it goes back all the way to him. It's a time to sort of assess, I think, where things are at with the rare disease community. We have had a lot of guests on talking about all the promise on the science side of things and drug development. There's been so many advances in gene technology, and we seem to be on the cusp of some breakthroughs. But I also want to hear from a broader perspective where you see the rare disease space and what kind of progress you're expecting down the road.


Annie Kennedy: Yeah. So, just for some context around what the Orphan Drug Act, or we call it the ODA, did for rare diseases is it took a field that really was dry and had no incentives to rare disease and was very difficult for companies to work within our space and created some really important incentives for companies to work within our space. It has created a very fruitful environment for companies to work within the rare disease space. 


Alongside the ODA, there have been some other really important pieces of legislation. I'm sure you've been following what's happened recently with the user fee agreements, which have created some other infrastructure that runs alongside the ODA. That also helps de-risk the space for companies to work within the space and, very importantly, has created a centralized role for patient experience data to be brought to bear on therapeutic development. That means the collaborations between industry and patient groups and regulators are not just “nice to haves,” but are actually requirements of therapeutic development in rare disease. 


So we've really gone from this space where there was almost no development in rare disease to now, we have almost 600 approved therapies in rare diseases. We have 10,000 rare diseases, so 600 is not nearly where we need to be for those communities, but it is significant progress. We have patients who are alive today because of the ODA who previously had diseases that we couldn't diagnose and detect, and we certainly couldn't treat. So, we've made great strides. 


But the other thing, to your question, is we have very robust pipelines. We have incredibly promising clinical trials under way and we now have a regulatory infrastructure that is swifter, is robust, has incredibly important regulatory rigor and that we're incredibly excited about. What we look ahead to, though, is that the smaller populations -- what are sometimes referred to as ultra-rare diseases -- still don't have a lot of work happening within them. One of the things we're really concerned about is making sure that we think about some additional incentives so that those rarer, rare diseases also have development happening within them, that those communities continue to be served. 


The other thing that we're really looking at and spending a lot of time working on is making sure that as these therapies are being developed, we have a fruitful access environment so that when therapies are approved, we have very swift access to those approved products for the families who have been waiting for those products. We don't want to have a separate adjudication process that then occurs within the access environment. We don't want to have, if you will, separate clinical trials that then are conducted within CMS so that patients have to wait a very long time for access to those lifesaving therapies that they've been waiting for. 


So, we have a lot that we're leaning into as we celebrate the fortieth anniversary of the ODA. But there's a lot that we're extremely grateful for, as we really celebrate this moment, and make sure that it wasn't just a moment, but we follow the momentum.


Michael Carrese: So, Osmosis is a teaching company and we love to ask our guests basically to give us some direction about, you know, filling a knowledge gap or busting a myth. It could be on what we're talking about, but you also might have a strong interest in something else. So, if you were to say, "Osmosis make an educational video about x," what would that be?


Annie Kennedy: I would say two things to that end. There are a lot of rare diseases, and it's very common that if you're going to medical school or you're in your clinical training -- whether it's a PA program or genetic counseling program -- you might have a question on the boards about only one of the diseases.  It’s also common for medical professionals to feel the pressure to be the most expert person in the room. I think one of the things that we've learned in the rare disease community is that because of the lived experience and nuances of rare disease, patients themselves develop really extraordinary expertise around their diagnosis and their disease. That really is also the essence of the patient-focused drug development movement. Patients are collecting data on social media and in real time and are building natural history studies that are being used as comparators in regulatory decision making. 


What we've seen within the clinical space, to your question, is that where that really works best is when providers partner with patients and pull together the knowledge base they have and pair it with the lived experience that a patient has...that they really work together to pair what's happening in your daily life with the knowledge that the provider comes to the table with. Patients really work hard to sort of quarterback their medical team because many times these are multi-system disorders, and when providers can really be open to being a part of that team, understanding that patients come with a really incredible amount of knowledge and learning something new, we see patients thrive. 


When providers have a really hard time with either a disease that they haven't learned a lot about, or the fact that we're always learning new information about these diseases, we see patients really suffer because of that, and oftentimes they have to go seek care elsewhere. So, I think that would be one of the things that I would say. 


The other gap we see is a real need for helping providers navigate difficult conversations, especially in the case of delivering a diagnosis. That's hard information to give somebody. As I said at the beginning of this call, I spent a lot of years in the clinical space and would often be a part of diagnostic conferences where you would have an expert provider, or physical medicine provider with a genetic counselor and a family who was receiving really tough diagnosis. We recognize that not everybody gives certain diagnoses a hundred times.  I think providing a resource or tool that would really help people with some language that would make that first conversation easier would be a real gift to providers. Because the truth is, families are then going to go from that meeting and hit Google anyway and they're gonna go start looking information up, right? So, the best thing that I think a provider can do in that conversation is provide some context through which they're going to view everything else they're going to start learning. If the provider can sort of take some of the sting out of that moment, provide them with a little bit of a safety net, and just get two or three facts across that will help them interpret everything else they're gonna start reading online they will have achieved a lot. It’s also important to remind them that they're a part of a team and not alone, and there's going to be a resource to return to. 


But I think that conversation can be really scary for providers and so I haven't seen a lot of resources provided to providers about how to navigate that conversation. What do you say? And it can be applied to so many different disease spaces, but how do you even do it? 


Michael Carrese: That is really an awesome idea. Most people aren't naturally going to be able to figure out how to phrase it, or how to approach and frame that moment. 


Annie Kennedy: But everyone's gonna have to do it.


Michael Carrese: That's right. That's great. So, to wrap up, we always like to have our guests provide some advice to the learners in our audience and also a lot of early career professionals about approaching their career in healthcare. You've already provided them with a lot of great stuff to think about, but is there anything else you want to leave them with?


Annie Kennedy: I would just start with a thank you. I just think that this is not an easy time. I mean, obviously, we've just come out of such a difficult time as we sort of navigated through the pandemic and I don't know that we're ever coming out of the pandemic. We learned that our essential employees were superheroes and really should still stroll around the streets with tights and capes on. But I also have a lot of personal friends and loved ones who are healthcare providers who are always taking calls and emails from their patients and you obviously go into this profession, because you care about your patients. 


We're in a time and space where everything is always changing. So what you learned in medical school, and then you learned in your fellowship or other training is certainly not what you're encountering when you're meeting that patient that has that diagnosis, but you thought you knew. I just want to say thank you to providers who make such an impact on not just the lived experience of patients, but on the way patients are going to view their diagnosis and approach their daily life and their disease. While there are lots of tools and resources out there -- which is so empowering for us as patients to be able to piece together our teams and our resources -- at the end of the day, it's providers that help point us in the right direction. So, I just want to say thank you.


Michael Carrese: That's a wonderful note to end on. I want to thank you so much for being with us today and sharing all that wisdom. I know our audience learned a lot and we appreciate your time.


Annie Kennedy: Thank you. Thank you so much for having us and for featuring the EveryLife Foundation and our rare disease community.


Michael Carrese: I'm Michael Carrese. Thanks for checking out today's show and remember to do your part to Raise the Line and strengthen the healthcare system. We're all in this together.