NORD – Supporting the Rare Disease Community

Introduction by Tom Rhoads (00:02):

There are over 300 million people living with one or more of over 6,000 identified, rare disorders around the world. A disease defined as rare in Europe affects fewer than one in 2000 people. Rare diseases are characterized by a broad diversity of disorders and symptoms that vary not only from disease to disease but also from patient to patient suffering from the same disease. Hi, I’m Tom Rhodes, CEO of Spencer Health Solutions. We are honored to have a special guest from the rare disease community on the “People Always, Patients Sometimes” podcast. Pamela Gavin is a Chief Strategy Officer for the National Organization for Rare Disorders. NORD has been educating, supporting, advocating, and building a community for the rare disease community for over 38 years. I know you’ll enjoy learning more about NORD on the “People Always, Patients Sometimes” podcast.


Janet Kennedy (00:56):

Hi, my name is Janet Kennedy and I am your host for “People Always, Patients Sometimes,” a production of Spencer Health Solutions. We have invited Pamela Gavin, Chief Strategy Officer of NORD, the National Organization for Rare Disorders to join our podcast. Patients with rare disorders often are overlooked by clinical research and drug developers, or have histories of misdiagnoses. Now that Coronavirus is impacting the globe and awareness of the fragility of persons with rare diseases is triggering teachable moments for all of us. Let’s dive in! Welcome to “People Always, Patients Sometimes”. Pam.

Pamela Gavin (01:33):

Thank you, Janet. Great to speak with you today.

Janet Kennedy (01:36):

I am so fascinated by your organization. I had no idea that literally there were hundreds and hundreds of rare diseases that you all are tracking and cataloging through your organization.

Pamela Gavin (01:49):

Yes, it’s an amazing, exciting time within the field of rare diseases. We have over 7,000 known, identified rare diseases in the world today. And so NORD as patient advocacy organization supports all of them and the work that we do.

Janet Kennedy (02:08):

Can you tell me a little bit more about NORD itself and how it’s structured? Is this an organization that provides information to people or are you proactive in helping resolve and learn and educate people about the diseases?

Pamela Gavin (02:24):

So we do some of both of those things and an organization established by patients and caregivers and advocates over 37 years ago, for some of the very things that you mentioned in starting your podcast introduction. And that is to advocate for improvements in it, interest in job development, device development, medical care, and services for people with rare conditions because very little was being done in the field. It was very hard to make it work economically for companies and researchers to study rare diseases because the patient populations were so small, but people were suffering tremendously.

Pamela Gavin (03:04):

So the community, the patient advocates got together and pushed for legislation that ultimately led to the Orphan Drug Act being passed in 1983. And that legislation established financial incentives for those to do research and study and develop products for people with rare conditions, the majority of which even today still live with a disease for which there are no FDA approved treatments. So we advocate for change. We advocate for people living with rare conditions to have access to proper diagnosis, treatment, and care so that they can live their very best life. We advocate for an environment that promotes research and innovation and fairness and equity across the entire community. As part of that advocacy work to promote access to that which is necessary for people to live their best life. We also do a lot of education to collaborate with organizations across the rare disease spectrum. Many of which are members of NORD, other advocacy organizations to educate people, clinicians about rare diseases. We also educate advocates so that they could advocate on their own behalf.

Janet Kennedy (04:23):

I’m thinking back to when you were founded 37 years ago, and there’s no internet there. So I can’t imagine how hard it must have been for patients with a rare disease to find other patients with rare disease. It must have been like living in a cave to feel so alone and to feel like they’re so unique that nobody cared about them.

Pamela Gavin (04:48):

They could live their whole lives without meeting somebody with the same condition. You’re absolutely right. Janet, the isolation is just an incredible challenge for people to live with such a burden. I can speak personally from my own family’s experience, having grown up part of my professional career without the internet, certainly the beginning of it. And now knowing not only that we have the internet, but all the amazing tools to connect people together, to communicate with one another, to bridge people across many, many boundaries across the world. So there still is isolation today, but it wasn’t seemingly hard to connect to people. I can remember the first time we saw a newspaper article where there was a story about somebody with a rare genetic condition that was similar to what my nephew had. And it was as if that piece of paper that photograph trying to connect to that community. It was so impactful and so meaningful. Now we don’t have to fax things over a fax machine or try to find a phone number by looking in a yellow pages or white pages or calling institutions and calling and calling and calling until you found someone who may know somebody, a family, you sit at your computer or on your cell phone and start searching.

Janet Kennedy (06:10):

And sometimes you’re looking across States across the country, across the globe to find other people with similar conditions.

Pamela Gavin (06:18):

Absolutely, absolutely. And we work with organizations like ours across the globe. It’s a privilege and an honor to represent the rare disease patient and caregiver community. As we try to unite ourselves across the globe.

Janet Kennedy (06:35):

Let me ask you a question about your organization. It is made up of other organizations that support a very specific rare disease for instance, but do you also support individuals for whom there is no support organization?

Pamela Gavin (06:52):

That’s exactly right. NORD represents all rare diseases that are known. So we work in collaboration with organizations that exist for those diseases that are known. And then if there is no organizational representation, NORD tries its best to fill that gap and representing those communities as well.

Janet Kennedy (07:12):

Before we move on to discussion of patients and clinical trials, I’d love to know a little bit more about your history and how did you end up at NORD?

Pamela Gavin (07:21):

It certainly was not a planned professional path. I started my career working in healthcare. I at first wanted to be a clinician. I wanted to be a physician and ended up finding myself, getting involved in healthcare information systems, technology really fascinated by the opportunity to leverage technology, to improve healthcare delivery, healthcare decision making, and the experience for patients so that they had better outcomes. And I was intrigued by the impact that technology could have disruptive in a positive way to empower clinicians, to make better decisions, to have better information, better tools, equipped to do their job better. And so that’s really where I started to focus. I ultimately found myself evolving into an advocacy role because of personal experiences. I had members of my family to be involved in medical errors. So I got involved in advocacy for improvements in patient safety and clinical care safety.

Pamela Gavin (08:32):

And then that led to getting involved in rare diseases. My brother’s first son, my nephew, Trevor was born with metachromatic leukodystrophy. Although we didn’t know it right away, they took some time for it to be diagnosed. And this is right when the internet was really beginning to be used predominantly for academic and for business to business purposes. So to your point about isolation, I saw that firsthand. We’re a pretty close family. And so we all supported my brother and my sister in law through this journey. But one of the first organizations that they were introduced to once they finally got this devastating diagnosis, the disease for which there was no cure and was going to take my nephew over very over a period of time was the national organization for rare disorders. And I remember what it meant to be able to talk to somebody that knew something about what was taking place in our lives.

Pamela Gavin (09:31):

And NORD connected my brother and sister law in particular to medical information and to clinicians and researchers that were working in the field. So even though there was no treatment or cure and the outcome was going to be inevitably devastating to know that there were people working on, it provided some comfort. So that’s how I was first introduced to NORD many, many years later, an opportunity to join the organization came about where I was really marrying my work in healthcare information technology and data and supporting improvements in clinical outcomes. Marrying that with my rare disease experience, I feel very privileged to have this opportunity to work in this space, representing the community and helping to make a difference for those who today live with a rare disease or love or care for someone with a rare condition in the US.

Janet Kennedy (10:35):

I think that’s such an important thing is to have passion for the work you do. And in your case, it’s well, really a job. You can never leave, but it sounds like it’s a job that also sustains you.

Pamela Gavin (10:49):

Thank you for describing it that way. I think you are spot on. It is one I could never leave. If I were to ever be working someplace other than NORD, I’d still be passionately connected to the community and concerned about its wellbeing and progress. I could meet anyone with a rare disease or connected to a rare disease, and it doesn’t have to be metachromatic leukodystrophy. And I feel connected to that person or persons, but I do feel lucky. I feel very lucky to be able to do this work.

Janet Kennedy (11:19):

Tell me a little bit about your role as the strategy leader for the organization. What does that mean? And one of my side questions is – you’re supposed to be involved in strategy, which should be three, five, 10-year plans. And suddenly COVID-19 comes around. Did your strategy get blown out of the water? And you’re having to rethink a lot of things?

Pamela Gavin (11:39):

So as Chief strategy officer at NORD, I have the privilege to work with members of the community, our board of directors, our scientific and medical advisory committee, our other committees, as well as our staff, other stakeholders that we collaborate with to as you said, look to the future to ensure that we are planning for and evolving and changing to meet the needs of the community in the future from the patient and caregiver perspective. Clearly COVID-19 has had a dramatic impact on the entire community and, and the organizations that operate in this space, including NORD. We are still looking out for the future, but we certainly had to deliver a lot of immediate resources to address the needs of the community, where we could, where it made sense for us to do so around education resources, to help people financially get over hurdles that were completely unexpected. I certainly don’t have to tell you that this is a virus of epic proportions, not really anything we could prepare for.

Pamela Gavin (12:52):

And so we had to stop some of our earlier work in the beginning of 2020 on strategic planning and divert some of those resources to rapid response programs for our member organizations to help raise money to seed money. So they could stay afloat webinars where we brought clinical scientific experts, psychologists, psychiatrists, geneticists, telemedicine, experts, you name it, a variety of people into our community. Through webinars. We did some surveys early on to try to understand what people were thinking of, where they were being impacted. And then some of our existing programs where we help patients logistically get to clinical trials. Some of those were impacted early on. So we definitely put a pause on some of our and immediate quarter, one quarter, two work to ensure that we could pivot quickly to meet the needs of the community because they were hurting.

Janet Kennedy (13:53):

Based on what we’ve all seen in social media, it seems as though there are people who really don’t understand the terms, high-risk immunocompromised, people who are at risk in regard to reacting to COVID and the persistence of some people to not understand the importance of wearing a mask and implications for this particular population is really rather astounding to me. Has NORD been challenged to help educate the folks who are not really aware of how large this community is and how serious the implications are of not wearing a mask during COVID?

Pamela Gavin (14:35):

We certainly, you know, work to promote the guidelines that have been put out by the government and promoting, for example, the CDC guidelines and wearing a mask. And we have been promoting our member organizations who have doing that, especially those diseases for which patients are immunocompromised, but it’s been a challenge not uniformly across the country, but it’s definitely been a challenge nor has had staff working remotely before. COVID-19 clearly all our staff are working remotely. Now we have offices in the Connecticut area, New York area. So we were early on involved in the first epicenter. So we saw the impact and participated in adopting the guidelines. So we were able to promote those best practices by virtue of the fact that they were supported by the federal government, as well as the local state governments, where we actually had offices. So we saw it firsthand. We have an office in the Boston area, not too far from where you probably heard about the Biogen conference.

Pamela Gavin (15:47):

And so we were very sensitive to what was happening early on in the country around COVID-19 and some of the early epicenters. So I think we were tuned to it from the very beginning and we’ve promoted the use of masks. You know, we have staff with rare conditions. We have loved ones with that are immunocompromised, some of which are rare and some of which are not rare. So we promote from within and from personal knowledge and experience, but it’s concerning to the entire community that this is not something that is necessarily has been adopted across the country as early on, as we would have liked.

Janet Kennedy (16:25):

Let’s pivot for a second. I’d like to talk to you about NORDs involvement in clinical trials. Do you actually have any kind of funding for programs or are you more about facilitating the conversations that could start clinical trial discovery?

Pamela Gavin (16:42):

Much of our work tends to be early on in that we raise money for researchers who are looking for seed grants to get them from one phase to the other potentially, or get some of their work over a hump. Our seed grants are about $50,000. So not nearly enough to operate large, expensive clinical trials. We also provide resources and tools and support to help patient organizations who want to establish natural history studies. And those may lead to clinical trials or may help inform the design of clinical trials. So we’re very much involved in the peripheral activities or the early supporting activities that may lead to clinical trials. But with clinical trials themselves often conducted by industry stakeholders. We will work with them and CROs to help operationalize trials by working on the logistics side. So to help reduce the burden to patients and families, we will help them with their travel arrangements. We will help them with their costs associated with their participation in the child. And we’ll also work to help promote trials and inform people of trials to help with trial recruitment. We’re doing a lot in that ecosystem if you will, but we don’t conduct the clinical trials ourselves.

Janet Kennedy (18:09):

I would imagine it’d be very difficult for you to pick one rare disease to focus on.

Pamela Gavin (18:16):

Yes, they care about them all. That would be a hard decision that’s like saying I love one child more than the other, picking a favorite child.

Janet Kennedy (18:30):

Within your organization do you have the opportunity for patients to actually talk to each other? Do you have a platform for them to engage anonymously or otherwise with people of a similar disorder?

Pamela Gavin (18:43):

We did have a platform called rare connect that we worked with our colleagues in Europe. Over time, that platform, it was hard for us to participate and continue to support it financially and the different languages and folks tended to gravitate to the more commercial robust platforms like Facebook. So a lot of the direct communication amongst patients are with platforms like that. We’ll connect people in other ways to augment that we have meant that by bringing people together around perhaps their educational needs, where we have a patient and caregiver annual forum, and this year it’s virtual, it’s called living rare living stronger forum, where we bring patients and caregivers, family members together, and they could be a various backgrounds, different diseases represented.

Pamela Gavin (19:41):

Some of them may be strong policy advocates. Some of them may be, have different areas of interest, but we bring them together. We also bring together clinicians that are providing educational opportunities. They bring their experiences and really trying to provide resources so that people can feel stronger, more empowered to live a better life, and have more successful opportunities to engage in the community, share their experiences, develop friendships, relationships with people. And we were doing this by bringing people physically together and we rotate around the country a different place each year. So we were supposed to be in Cleveland this past year, this past may and said, we’re going to do it virtually in a couple of weeks in July. And we’re going to go back to Cleveland next year. And we end our event with an annual award ceremony where we, and this has been part of NORD’s history since I can’t remember over 25 years, where we bring researchers, academics, patients, patient advocates, organizations, members of industry, government, federal, state policymakers, together to celebrate the successes of the previous year. So we will do it virtually this year. And we’ll go back to Cleveland and the Rock and Roll Hall of Fame next year.

Janet Kennedy (21:12):

Oh, well, rock on. That’s all I can say. Well, Pam, I can’t tell you how important I think your work is and how proud I am of the whole organization. The amount of services and activities, information that you all have is really quite astounding. And let me ask you this. If somebody wanted to be more engaged, whether they are an individual person or they represent an organization, is there a place for them at NORD?

Pamela Gavin (21:43):

Absolutely. At both of those levels, there is, there’s always a place there’s so much opportunity, so much to do so much positive energy and opportunity to bridge gaps that exist in the community. And we’ll find something for everyone to get involved in. So they shouldn’t hesitate to reach out to us. Our website has forums where people can submit questions, comments, requests, or they could call our main number, which will route you to the right department program or project within the NORD.

Janet Kennedy (22:15):

That’s excellent. All right. We’ll be sure to have the links to the website and your social media properties in the show notes. So I encourage everybody to please check that out so you can find the links to both Pamela as well as all the organization social media platforms, Pam, I thank you so much for being here for “People Always, Patients Sometimes.” It was a great pleasure to talk with you.

Pamela Gavin (22:40):

It’s been my pleasure. Thank you, Janet. Safe and healthy.