For this episode of Karger’s The Waiting Room Podcast on Rare Disease Day 2023, which is held on February 28, we spoke with Lisa Sarfaty from the National Organization for Rare Disorders (NORD). Lisa currently serves as the Vice President of Community Engagement, and particularly focuses on advocacy, education, and capacity building.
While addressing the 40th anniversary of the Orphan Drug Act (ODA) and of the foundation of NORD as an organization, we specifically tried to answer the question: “What does equity mean for people living with a rare disease?” We also looked at what should be done to actually achieve this equity in education, the workplace, and everyday life. Last but not least, we had a closer look at NORD’s plans for Rare Disease Day 2023.
Note: The statements and opinions contained in this podcast are solely those of the speaker.
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First of all, please tell us a bit about yourself and your work at NORD.
Thank you for having me. I am the Vice president of Community Engagement for NORD. I have been with the organization for 11 years now, which is amazing. In my role at NORD I have the privilege and honor of working directly with our community of volunteers and advocates and donors and patient organization leaders who are all working together to make positive change for the rare disease community. And I’ve been really honored to work on campaigns like Rare Disease Day, among others.
Now, before we come to the actual topic of equity, the Orphan Drug Act (ODA) turns 40 this year. And as the ODA also led to the formation of NORD as a result, with the two being closely intertwined, I’d be interested to hear your take on the ODA and what happened in these past 40 years to both NORD and the ODA.
Back in 1983, for context, there were fewer than 40 treatments available for rare disease patients and families, and there were a group of parents and patient advocates who were struggling to access the treatments that they needed for their children and for their loved ones. At the same time, there was recognition on Capitol Hill that there was this orphan drug problem. And so in the eighties, early eighties, it took a group of parents and patients and advocates forming a coalition. And that coalition advocated for the passage of the Orphan Drug Act, which was a piece of legislation, the first of its kind, really groundbreaking, that provided incentive for companies to develop treatments for rare diseases. And previously those incentives did not exist.
And so by virtue of the Orphan Drug Act getting passed, it was able to spur innovation and research into rare diseases that previously would have been orphaned by the medical and research community. And so that same group of parent advocates, led by Abbey Meyers, NORD president and founder for 25 years, realized that their work wasn’t done when the Orphan Drug Act was passed and that they were able to achieve such a monumental thing when they worked together and they united their voices. And so they decided to formalize the coalition into an organization that they called the National Organization for Rare Disorders. And that really paved the way and started the rare disease advocacy movement, both in the US and globally.
And the last 40 years of progress have been undeniable. When we look at the Orphan Drug Act as the example and it turning 40 this year along with NORD celebrating its 40th anniversary of an organization, we now have over 500 treatments for rare diseases in comparison to the fewer than 40 40 years ago. And so the Orphan Drug Act, in the work of the Rare Disease community, has been really instrumental in ensuring that we have greater opportunities for treatment, potential cures and just a recognition for rare diseases and the challenges the families face.
Many thanks for this overview, Lisa. So, what does equity mean for people living with a rare disease?
Equity in the context of rare disease would mean that patients and families affected by rare diseases would have fair opportunity to achieve their best health and well-being, regardless of race, ethnicity, gender, sexual identity, where they live, what disease they have. And today, unfortunately, we just don’t have health equity yet for rare diseases, and there are more than 7,000 of them affecting more than 25 million Americans who need health equity to be part of the conversation.
And so taking that a step further, I think some of the greatest barriers to health equity for rare disease patients and families are things like access to an accurate diagnosis, a timely diagnosis. I think it’s accessing medical experts that know how to diagnose and treat their condition that they can access locally, that don’t require high out-of-pocket costs to travel out of state for that care. In addition to them being able to fully participate in society. So, by virtue of it being health and well-being, that they can attend school, that they can go to work, that they have equal opportunity to be full participants in society and that they are not left behind.
You just mentioned the issue of barriers. Could you please provide us with a couple of more examples? Which barriers where disease patients may encounter?
I’m happy to, yeah. The number one barrier that we talk about is the diagnostic odyssey, and we call it an odyssey for a reason. The average, you know, for rare disease patients and families is that it can take 5 to 6 years to get a diagnosis, which means for some it’s greater than 5 to 6 years. And this is a long and arduous journey that can take more than 12 specialists and dozens of tests and out-of-pocket costs to hopefully receive an accurate diagnosis. Once the family gets that diagnosis, the second barrier that they face is whether or not there will be an approved treatment. So, while we celebrate the success of the Orphan Drug Act and the fact that we now have over 500 treatments for rare diseases, the unfortunate reality is that only 10% or less of rare diseases have an approved treatment. So, the chances of there being an approved treatment once you get a diagnosis are fairly low.
And so for a parent or a caregiver or a person being diagnosed with a rare disease, the obstacles just keep mounting at that point, because now you are dealing with: “How am I going to treat my disease? How am I going to slow the progression of this disease? Who can help me? Is there anyone out there that, any clinicians, any experts that know about this disease?” There may be barriers in support because there might not be a patient support group yet for that disease. And I think that patient support groups play a huge role in a person’s ability to achieve their best health and well-being. Being able to connect with other families who have gone through the same disease or condition and understand what you’re going through, looking to these organizations who know where the research is happening, they know where the experts are located. They’re working on education. So, that can be a huge barrier for patients and their families.
And then I think we can’t talk about barriers without talking about the financial burden that often comes along with a rare disease diagnosis. The NIH (National Institutes of Health) did a study and they recently published a statistic that said that rare disease patients and families see costs that are 3 to 5 times that of someone without a rare disease. And we know that these costs include things that are not covered by their insurance, things that they have to pay for out of pocket, the cost of treatment when there is a treatment for their condition, the cost of care.
And so for many families, this results in them having to make very difficult decisions and choices about affording their medical care and treatment or being able to stay in the workforce and have two incomes coming in or one income or having to be a full-time caregiver, and full-time caregiving really is a full-time unpaid role. It’s more than 40 to 45 hours a week for most caregivers, and that creates its own barriers to their health and ability to take care of themselves when they’re caring for their loved ones. And so, those are just some examples of the barriers that these families are facing, these individuals are facing, but it doesn’t stop there, certainly.
Let us take a closer look at two particular aspects of equity, namely in the field of treatment and diagnosis, as well as the area of work and education. What are your thoughts on this?
When I first started in rare diseases 11 years ago, I heard the term “zebra” and I didn’t know what it meant, and what I quickly learned was that when it came to rare diseases, oftentimes in medical school, doctors are taught “When you hear hoofbeats think horses, not zebras”, with the intention of “It’s most likely something common, and not uncommon, for your patients”. And the challenge with that is that we do have more than 25 million Americans and more than 300 million people worldwide living with rare diseases. And when you don’t suspect something to be rare, it’s going to continue to go undiagnosed.
NORD and the rest of community have been working really hard to address the diagnostic odyssey and really address the fact that rare diseases do occur. They are present. You will come across them in your medical practice, in your life. The statistic is that it’s one in ten Americans that have a rare disease. So, it’s really, while individually a rare disease affects fewer than 200,000 people, which is what makes it rare, collectively rare diseases actually aren’t that rare when you compare them to more chronic conditions like asthma or COPD (chronic obstructive pulmonary disease) or cancer.
And so I think when we talk about the diagnostic odyssey and health equity, I think one of the number one things that we need to do is to continue to educate and create awareness for rare diseases, help clinicians to access diagnostic tools and resources to help more quickly get to an accurate diagnosis. We need to reduce the burdens and barriers placed on patients to be able to access appropriate care. That’s something that NORD is doing through our rare Disease Centers of Excellence, where we have over 30 academic medical centers around the country who are equipped and ready to help diagnose and treat rare disease patients to improve their care. And then I think we also need to continue to help patients and families to know where to turn to so that if they suspect they have a rare disease, that they have opportunities to continue to pursue that on their own.
And I think an example, an easy example of that is when you are struggling with a rare disease and you suspect that you have one, oftentimes you’re not given the language to know where to go to look for answers. And so your physician isn’t telling you “You have an undiagnosed condition” where you can then type in “undiagnosed” into your search engine and then come up with all of these resources and support. So, oftentimes families are then having to go on the internet and just type in symptoms and try through symptom searches to figure out what they might have. And so I think making information more readily available to both the medical community and to society to help with that education and awareness is key.
And as to the second part of the question, what about the area of work?
So, we’ve done surveys over time, and we know that one of the challenges that our committee is facing is the ability to have accommodations in work and in school so that they can participate. And I think for a rare disease patient or caregiver, that may look different depending on their disease. And so everyone’s journey is unique, their needs are unique, their accommodations are unique. But I think right now society isn’t really set up to accommodate rare disease patients and caregivers in school and in the workforce.
Many conditions require medical attention throughout the day. They might have sensory challenges. They may require advanced opportunities for absorbing what they’re going to be doing throughout the day. They might need accommodations if they have conditions like narcolepsy, which is something that I’m familiar with through my own family, where, you know, a 9-to-5 work combination doesn’t actually work for them. And it doesn’t mean that they don’t have the skills or the ability to contribute to an organization, to a company, to their mission, and contribute their expertise. It just means that they might have to do it on a different schedule. They might need different accommodations so that they can maintain their health and well-being while also being a participant.
And so I think from a workforce and an education perspective, again, it goes back to awareness. You know, what are the unique needs and how do we meet every individual with a rare disease where they are so that we can address and accommodate them to do so, to be, you know, in school with their peers and in workforce that they want to with their peers. And I think right now it’s just very limited. And I think that’s again why we often see children with rare diseases homeschool. We see parents becoming full-time caregivers. And these are high burdens that are placed on these families. And it affects not just the patient with the disease or their parents, but it also affects their siblings and extended families.
And this brings me to my next question. And to be honest, you’ve kind of touched on it in one of your previous answers already. However, maybe you’d like to add a couple of more sentences on the subject. That is, what does equity mean when focusing on the families as well as friends of those living with a rare disease?
Well, I think there’s never a shortage of things to say, right, when we talk about equity and what the needs are. But, you know, I look at it in a few ways. So, when we look at caregivers, for example, there are very few resources to support caregivers in their caregiving roles. And so I think as a society, as a community, we need to look at how we can better support caregivers in their ability to do what they need to ask caregivers, but then also to take care of themselves as individuals.
And so an example of that is, within the last few years, NORD launched a caregiver respite program, and this is the first of its kind where we’re helping families to be able to take time off from doing caregiving to get the rest that they need. And so we give out stipends and this money can be used to pay for an in-home nurse to come and watch your child, your loved one, while you go do something that you need to just take a break from caregiving or get the support that you need, in-home or out of the home or whatever it might be, but just something to give caregivers that respite that they’re desperately looking for.
I also look at it in terms of the families, and as I mentioned, when a person is diagnosed with a rare disease, it’s not just that person that gets the diagnosis, it’s the entire family that receives that diagnosis and whose lives are now affected by the diagnosis. And so often the voices that are unheard are those of siblings who are also caring and supporting their family member, their brother or sister that has a rare disease, and also trying to participate in society, who are also trying to go to school and live normal “lives”. And they’re challenged by that. There is a lot that they are dealing with at a young age, conversations that they may be a part of the kids their age, other siblings their age wouldn’t necessarily be dealing with when it comes to these life-threatening, life-altering conditions.
And there are disruptions for them, disruptions in school, disruptions in their ability to do things outside of school with their peers. And so I think as a society, looking at these challenges, looking at the whole person and the whole family and understanding what their holistic needs are, those holistic access barriers and challenges and the burdens, and really starting to look at both systemic solutions and long-term sustainable solutions, but then also community-based solutions. So what can we do to help alleviate those burdens for our friends, for our families, for our neighbors, for our community members, so that they can again live their best health and well-being, which I keep coming back to because it’s NORD’s mission. But I think it’s also so germane to the health equity conversation.
I’d like to come back to one of your previous answers, where you addressed the barriers, the obstacles, and even the burden that rare disease patients encounter, which really do stigmatization and even discrimination play, and how can these be avoided in order to achieve social inclusion and equity?
So, in the context of rare disease, you know, we often hear that people face discrimination and stigmatization. Again in their workforce, in school, but then also just generally in their interpersonal relationships. And so what that looks like is, again, then feeling like they’re not seen, they’re not heard, they’re not worthy of medical care, appropriate, I should say, medical care that when they go into these health care settings, no one understands what they have. They don’t know about this disease. Sometimes they walk into these settings and they’re told: “You’re making it up. It’s all in your head. You don’t have a rare disease.” But, you know, they know their body. They know their health. They know what they’re feeling and what changes they’re experiencing. And so there’s a lack of validation and recognition which creates further isolation.
And I think that’s one of the things that so often families express they feel is being very isolated and they’re on an island by themselves and they’ve never met anyone else who has this disease. And maybe they’ve never met anyone who has a rare disease and understands generally what they’re going through. And they don’t have the ability to get the support that they need and the validation that they need that: “Yes, you might have a rare disease, and here’s, you know, the person or the group that is going to help you.” And I think having that support system that says “We recognize you, we see you, we hear you, and we’re going to help you figure out what you have” is so instrumental to removing stigma in health care.
I also think that, going back to accommodations and the barriers that people face, when we don’t create these accommodations, when we don’t look at the holistic needs and meet people where they are, it makes it incredibly difficult to move past the stigmatization because again, it goes back to: “Am I, how do you perceive me? How do you perceive me having a rare disease? How should I participate in society? And you know, what can I do?” But I think it doesn’t, it’s more than the individual.
I think, again, it takes a collective to come together to say: “We’re going to be informed, we are going to be educated, we’re going to help understand the plight of someone living with the disease and the challenges. And we’re going to support them with what they need and again, meet them where they are with their unique needs and challenges and figure out how we can help them to participate again fully in society.” And so, I think, one of the greatest things that we can do, again, just really comes back down to awareness and education.
And once you’re informed, once you’re educated, you are compelled to want to help, you are compelled to want to look at your loved ones and look at those within your community and say: “How can I be of service? How can I support the rare disease community for you in your journey?” I think it’s impossible. And I say that as someone who got, 11 years ago, pulled into this community and has not left for that reason. It is hard, once you are aware, to not want to do something. And I think that’s why things, you know, campaigns like Rare Disease Day are so important because they create that greater awareness, that understanding that then leads to collective action and support.
Speaking of which, and that brings me to my last question of this interview: What are your plans for Rare Disease Day 2023 and what are NORD’s plans for the awareness Day in terms of showing your stripes and lighting up for rare and showing your colors?
For those who don’t know, Rare Disease Day is an annual awareness campaign to bring attention to the unique needs and challenges of the rare disease community. This is a global campaign. So, it was started in Europe by Rare Diseases Europe, or EURORDIS, and then brought to the US the following year. And now there are more than 75 countries that participate in Rare Disease Day, and NORD is the US sponsor. So, we help to lead the campaign in the US with our community and our stakeholders. And there are a few key activities that we work on each year.
So, the first is the global chain of lights, which was started in Europe. And in essence, what we ask is that communities help us to light up for rare disease. And so what that looks like is having major monuments or buildings and bridges and just individual home and businesses locally to light up in the rare disease colors and help us to create visual recognition and celebration for rare diseases, which we have seen in other health campaigns that that really is impactful and that lighting up for rare is growing here. Here in the US, we’ve had the Empire State Building, as an example, participate, which, you know, there are over 8 million people living in New York City and millions more visiting daily. And so I think that’s something that’s been really great to see.
I also think one of the main calls to action and an opportunity is storytelling. So, we are looking for patients and caregivers and families and friends to share their stories of rare diseases and help us to amplify them. The more that we can put out into the world – information, education, awareness about these diseases and how they affect families and individuals –, the greater awareness that will be created that can then lead to bigger conversations about what resources are needed, what we can do to improve their experience, their lived experience with these conditions.
And so storytelling is really important, and I think, added on to that, is the Show Your Stripes campaign. And so, similar to the lighting up for rare, we are still trying to create a very visible recognition of this day, of this awareness campaign. And, in the US, we started the Show Your Stripes campaign, which again, going back to the zebra being the mascot, we are a herd of zebras who want to be seen. And so the call to the community and its supporters is to wear stripes on Rare Disease Day, on February 28th, and help us to start a conversation.
And we’ve seen that in different settings. For example, hospitals, when there are, you know, 25 or more employees wearing stripes all on the same day. It’s a conversation starter! “Why is everyone wearing stripes?” And it opens the door to a conversation to say: “Well, let me tell you about Rare Disease Day. Let me tell you about rare diseases.” And that really helps us to foster that dialog that then brings people back in to be part of the community, of the support system that we are creating.
And beyond that, there are events happening throughout January, February and March. So these events can be local events that we host with our volunteers. They can, you know, we have events that are legislative, so they’re being hosted on at State Capitol to help raise awareness of diseases among our policymakers. There are events that are happening on university campuses to help raise awareness among future doctors and future health care professionals about rare diseases, and then also community events like community fairs that work to bring information to families locally in a more accessible way.
So, really looking at what resources and services exist in our state to support those living with rare disease and building and fostering that community locally, that they can stay connected year round. And so I really encourage those who want to get involved in Rare Disease Day to go to the US website to learn more about what events are happening near you or ways for you to get involved and help show your support for the rare disease community.
Lisa, many thanks for your time and for the interview.