In 2023, NORD (National Organization for Rare Disorders) will be celebrating its 40th Anniversary and the 40th Anniversary of the Orphan Drug Act. On February 28th, NORD will lead the charge on Rare Disease Day. A day in which anyone can get involved to raise awareness for rare diseases.

In this episode, we talk with Jill Pollander, the Vice President of Patient Services at NORD.  Jill talks about the history of NORD and the Orphan Drug Act and how NORD supports the rare disease community.  Jill gives us insight into rare disease patient organizations and how they can support rare disease patients. Jill also speaks to ways you can get involved and raise awareness for rare diseases and what resources are available. And most importantly, how you can participate in Rare Disease Day on February 28th and join the millions of rare disease patients who are raising their voices and elevating awareness for rare disease support.

LEMSaware.com was created to deliver relevant information, resources, and connections to patients and caregivers dealing with LEMS. Wherever you are, searching for the right doctor, diagnosis, or treatment, this site can guide you to that next milestone.

Welcome back to the LEMS Aware Podcast. We are so glad you have decided to join us. Today we are speaking with Jill Pollander, the Vice President of Patient Services at the National Organization for Rare Disorders, or NORD, you know, 2023 marks 40 years since the Orphan Drug Act was passed, and not so coincidentally 40 years since NORD was born. Jill, before we get really started, can you tell us a story too about how NORD began?

Sure. In the late 1970s, early eighties, there was really very little being done to study or develop treatments for Rare Diseases. And the National Organization for Rare Disorders was founded by a small group of rare families. In 1982, Abby Meyers, the mom of a rare child, was really frustrated, outraged, just besides herself because her son lost access to an investigational drug who, who's trial was not really showing the desired endpoints. They decided it was just too small with the community being so rare, and she really was astounded by the lack of support for rare individuals. So she rallied a group of other rare families and this group of other rare families came together sort of around the kitchen table. And that group of rare families led to the founding of NORD and the work that NORD did to pass the Orphan Drug Act.

So it's amazing, we always hear about those, you know, kitchen table starts to all as tiny little foundations and everyone, it sounds so great. There's some romance to it. And then you look at something like NORD and say, wow, it really can turn into something. But we kind of jumped into a history lesson here. Can you tell us a little bit about yourself?

Sure. I'm a nurse by trade and training. My background spans from the emergency room to long-term care. I have a specialty in pain management and palliative care. I was the founding chair for two nursing programs and then I worked in medical malpractice for many years. About five years ago, I was able to take all of that, tie it up in a bow and bring this over to NORD to lead the patient services division. And NORD Patient Services is made up of patient assistance, information and resource services and our clinical trial support.

That's wonderful. I mean, it just, when you went through your background and, and all those prepared you for this job. So I think it's just fantastic that you're in the job, you're enjoying it, it's clear to see that and hear that. You know, our listeners may not know the ins and outs of the Orphan Drug Act. Can you explain it to us a little bit?

The Orphan Drug Act actually turned 40, as you mentioned. It turned 40 on January 4th. President Ronald Reagan signed the Orphan Drug Act in 1983. And what it did is it provided incentives for drug companies to research and develop therapies for rare diseases. So rare disease defined as a disease that affects fewer than 200,000 people in the United States at any one time. And what the Orphan Drug Act does is it provides that drugs that are designated to treat these rare or orphan diseases have seven years of what they call market exclusivity. So it provides an incentive for drug manufacturers to develop drugs that are really going to serve small patient populations. It also provides financial incentives in terms of some tax credits that are provided to these research and developers of rare disease drugs. And just one thing I wanna share because it is the 40th anniversary, the Orphan Drug Act really revolutionized rare disease drug development, while only 10 drugs for rare diseases were developed in the decade before 1983, more than 2000 have been designated as orphans since then. And approximately 450 have been approved by the FDA since that time.

Yeah. Having grown up in the pharma industry, I know that those incentives really work. It, it changes the decision making because you do have a product, small population, but you're able to actually have a product that pays for itself or comes closer to paying for itself or maybe really pays for itself very well. Um, and without that incentive, these rare diseases would, would just keep falling to the bottom of the, the priority pile.

And that was exactly what Abby Meyers and the coalition she formed had found that no one was incentivized to study and research, rare to develop drugs that would treat these rare diseases.

That might be one of those chicken or the egg type of questions. We have celebrate our 40th anniversary at, uh, about the same time the coalition that was to become NORD was founded at the same, was founded before the Orphan Drug Act, and then after the passage of the Orphan Drug Act, NORD was formed formally.

When you think back, you know, the X don't just get passed. It's not just like, oh, it happened. Hey Tuesday, we're gonna do this. No, it takes months and years of work to to pull it all together and get all the, all the, uh, legislators voting in the right direction. So you knew what was going on and, and the organization's forming. Uh, I think it's wonderful. And those data, that 2000 diseases that have been looked at now, you couldn't have dreamed that, you know, it's 40 years ago. So given your position at NORD, you have a front row seat to what's going on with patients, families, industry, all of that. What's the most uplifting part of your role?

I get to make a difference every day. So I think that really is how I, my team and really the entirety of NORD feels. So if you look at NORD'S sort of north star, if you will, it's really our belief that all people living with a rare disease have a fundamental right to their best health and wellbeing. And that belief really guides our work as advocates for solutions that address the complex issues and needs of the rare disease community. So NORD is the umbrella organization for 7,000 plus rare diseases. We're part of the rare disease community, and we truly believe and embody that alone. We are rare together, we are strong.

So can you tell us a story like a, an example of, of when you saw that play out?

So I look at the work that NORD does to support fledgling foundations so that we can grow foundations really from that kitchen table to become sustainable, impactful organizations. The LEMS community recently had the LEMS Family Association formation. Prior to that formation, the LEMS community as an entity unto itself was without a united and dedicated voice. There are other rare disease communities that have similar histories. So if you look at Syngap1 that was formed as a result of a mom who had a Syngap1 child who went in search of other Syngap1 families, they formed a foundation that fa that foundation. It's only probably five, six years old. And in the time since its formation, they've launched a registry, they've advocated for research and had some research studies that have started. They've been powerful advocates and educational spokes folks for the rare disease community. Now, their impact is not just local and grassroots, it's not just in the US it's actually a global impact. We see other foundations that have formed and have been able to, uh, partner with NORD for a patient focused drug development meeting with the FDA that really gives voice to the patient community. The pyruvate, uh, kinase deficiency Foundation, they formed as a result of, of a pf d d meeting and they've since published a groundbreaking report on the voice of the patient.

So a couple minutes ago I asked you about what is the most uplifting part of this. I want to ask the other side of the coin, what's the most frustrating part of your job? What, what gets in the way?

Well, research tells us that it takes an average of five to seven years for the diagnosis. Oftentimes because a loved one has a rare diagnosis and the family wants to do something, anything to make a difference, to help their, to help their loved one, to improve care, to improve access, to care, to develop treatments, lifelong medical needs. From my perspective, it's frustrating and challenging that the needs of the rare community far exceed the resources.

I would agree with that, but I I would never wanna say, we're not gonna catch up, we're not gonna solve this. We continue to move forward every day. So for example, NORD uh, launched its inaugural class of centers of excellence. We recognize 31 centers of excellence across the United States. And these centers have really formed a consortium in a work group to lessen the diagnostic odyssey, to identify best practices to help with all of those nuanced needs of the rare disease community and really create standards of care that will improve how rare disease patients find care, access, care and live their best rare lives.

Yeah, I wanna apologize. I didn't mean to say it was unsolvable, meaning we're gonna turn away. I meant it's, we're always gonna have that issue and you just have to keep moving forward. And as you said, you learn how to change the, the approach to developing drugs, to finding diagnostic tools, all of that as you go on, one disease teaches another. So it really is, you know, I can see why it's a frustration. If we just had everything, maybe we could go faster. However, we might not innovate. Like you just talked about, um, the Centers of Excellence, fantastic idea. So NORD is known as an umbrella organization. All rare diseases are welcome and that's great. You know, I'm part of Rare New England. Similarly, all rare diseases are welcome. But when you talk about LEMS, people are focused on their disorder. And I'mwondering, you know, as you look around what other organizations have done, you talked about Syngap1 and PKD organization. What else have you seen that unformed communities have done to accelerate and improve their formation into kind of a patient led community?

That's a, it's a really good question because when individuals are diagnosed, they're very often feel very alone. They're really at a loss. They don't know where to turn or what to do. And so they really struggle. And oftentimes the first response is, let me find my tribe, let me find people like me. How do I do that? And so NORD is often the first place that individuals turn looking for other folks with similar diagnoses. And one of the things that NORD has really taken a leadership role in is helping to grow sort of these fledgling, uh, kitchen table grassroots organizations to form foundations. So we have a forming a foundation curriculum. We have a rare launch program where individuals can learn how to start a rare disease organization that can lead their community and that can provide sustainable support. So we provide these organizations and leaders with guidance templates, resources and opportunities to grow their organization's, impact the footprint, the advocacy, and the patient-centered research and care that may be part of their mission. While we educate and empower leaders of nonprofit organizations, they can turn around and empower their, and educate their own communities. And one of the real keys here is that it removes barriers, particularly for marginalized populations. So marginalized populations and underserved groups who, on top of that are rare, really are underserved. And these small, smaller foundations are able to reach them and really push the sort of DEI initiatives forward.

I think that's great and it's, it really does highlight that issue, that rare disease folks we talked about already are underserved. And then if you're further marginalized or underserved, that intersection, it really makes it tough. And so we have to deal with the, the DEI aspects of this, and it does happen at these grassroots organizations. Why do you think it is important for people affected by a single disease to come together and get organized?

To give sort of a broad answer, there are rare diseases that affect as few as 20 people in the United States, or maybe 80 people worldwide. And there are rare diseases that affect many more. When somebody receives a rare diagnosis, it's not uncommon to feel alone, isolated and really a bit lost. So these foundations allow rare individuals to come together, find a community, find a home, find a support. And when you look at disease state specific foundations, they really are the voice of that disease state. They're dedicated, they're united in advocating for that specific rare disease.

February 28th is a special day in the rare disease community that last day of February, every year we come together as United Front for rare diseases in at Rare Disease Day. Can you tell us about this day and how NORD is involved and how people can get it involved with, with what NORD is doing?

The goal of Rare Disease Day is to raise awareness of the 7,000 plus rare diseases that impact over 300 million people globally. NORD is the official US sponsor of Rare Disease Day. We partner with our sister organization, Eurordis Rare Diseases and other National Alliances. And this really is an international campaign to shine a light on rare diseases to advocate for health equity for all of those living with rare diseases. You can find information about Rare Disease Day on NORDs website, which is rarediseases.org. Or you can go to the dedicated sort of microsite called RareDiseaseday.us, and that's the website to learn more about Rare Disease Day. It really is a day for action. This is the day that enables the rare disease community to figure out what type of engagement works for them. And that's the time to jump in.

Great. I think for the LEMS community, that's a, you know, that could be the project, you know, for Rare Disease Day, let's come together and try to figure out what we're going to do. Um, what is the action we can take. So do you have any final thoughts that you'd like our listeners to remember about what we've discussed?

The National Organization for Rare Disorders, NORD, we are absolutely honored to partner with the rare disease community and this rare disease day, I would advocate for engagement, whatever that engagement is for you. Engagement that gives voice to the rare patient and community and really to ensure that you're advocating for patient-centric care, person-centric care research and drug development engagement that's supportive of healthcare coverage and equity. And I would say that this rare disease day, NORD will as we have for the past 40 years, will continue to connect with Advocate for and serve the rare community. We're looking forward to partnering with new partners, old partners, and really making a difference for the rare disease community. From the website standpoint, talking about that, there are rare disease reports that individuals can access to learn more about a specific disease. There are webinars on things like gene therapy.

There are a vast array of webinars about registries and, um, the curriculum to form a foundation. But there's also access to the Rare Action Network, which is a grassroots advocacy network that works really at the state level to get involved. If the advocacy arm, the political arm is where you choose to get engaged. There's a students for Rare chapter, so high school students and college students can get involved with NORD activities. Rarediseases.org has a plethora of information if you are looking for how to fundraise, if you're looking to donate to NORD, if you're looking how to really take your own education information and experience to the next level and increase awareness, whether it's on Facebook, whether it's writing a blog, publishing an article, we're here to support you.

Thank you for kind of that outline of all the possibilities of things people can do. You know, what if I was a new person? That might feel a little overwhelming. What would you give the advice to that person who's come in and they say, I want to do something and there's no way I can do all of that?

That's a great question. It's where, where do I start? NORD, we answer, uh, 69,000 phone calls a year, and many of them are, where do I start? What do I do first? Oftentimes your disease states specific organization is a good starting point. It's smaller, the focus is narrower. And you can see what their mission is. What is driving them? Are they focused on education? Are they focused on advocacy? Are they focused on research? That's a good starting point. If you wanna go a little bit broader and look at things on a more national level, you can look at laws, what bills is NORD taking a position on what are we doing with regards to medical foods, equity, medicaid, reassignment and, and signup. What is happening in the way of drug costs and pricing. So you're able to see different policies if there's a specific aspect that you've got a question about.

I think that's exactly right. You need to find a place to start. The advice I often give people is say, well, what are you good at? What is your career done for you? Where have you already done something? Well, maybe see if you could apply that rather than, you know, contemplate going to talk to Congress when you don't, maybe not have even voted. Um, so you may be a long way away from, from the halls of Washington DC but you know what? You probably do something very well already.

That's a great point. And it's not just what you're great at, but where, where does your interest lie? You know, are you newly diagnosed? Do you wanna get the word out? Do you wanna know how to talk to your friends about this new diagnosis that you have? Or explain it to family. Rare disease reports are a great starting point because they are written in such a way that they're approachable. Or maybe you want to see if there's a webinar so that your college-aged student who's trying to explain to their friends what this new diagnosis is. What are those resources that are available and how do you wanna build on that? How do you wanna get involved and start to dip your toes in the water?

That is a great point. Anyone can get involved raising awareness for rare diseases and organizations like NORD can help. You can find more information about NORD and how the organization supports the rare disease community at www.rarediseases.org.

Thank you, Jill, for joining us today and thank you for listening to the LEMS Aware podcast. You can learn more about Lambert Eaton Myasthenic Syndrome, and how to get involved in the LEMS community at www.LEMSaware.com. LEMS Aware turning LEMS knowledge into strength. The LEMS Aware Podcast is produced by Salem Oaks, empowering patients to shape the future of medicine.