What is NORD and how would you describe its mission? 

Sure, you’ve got a lot of stuff all in that question, but so NORD is a 501(c)(3) advocacy organization. We are about to celebrate our 40th anniversary. It was formed by basically a coalition of families, individuals who had children who had rare diagnoses and no resources. So they basically formed around a kitchen table. As their work progressed and they began to look at what they needed in order to best serve their children, they became real advocates for and almost founders, if you will, of the Orphan Drug Act. They were really instrumental in the founding of the Orphan Drug Act. So I think there’s really one important piece, and this is really critical to me about Nord. We believe that all people living with a rare disease have a fundamental right to their best health and well-being. And with that belief as our guide, we advocate for solutions that address their complex issues and needs. And I’m sure this speaks to you from the pain management side of things. It’s something that really spoke to me when I thought about NORD. I think about what we do and how I’ve worked with patients over the years. 

Something I’ve definitely seen in the ER are these patients who have chronic pain and rare conditions and they have no idea what resources are available to them.

I have had the pleasure and privilege of leading a team of 25 people. My team is our patient assistance team and we provide information and resource services and clinical trial support. And one of the really unique things about NORD is that we’re committed to providing information about rare diseases, symptoms, connections, connections to the community, connections to resources, and not only for patients, but for patients, families, and caregivers. So when someone calls NORD with a question, oftentimes, we’re the first first call that people make, and we really do have robust resources. Whether it’s our rare disease reports, the rare disease database, whether it’s webinars, CME programs, or the patient assistance programs and the resources that we provide through that. We really have quite a robust resource library, but if there is something that we don’t have, we instituted our information and resource services team so that we can kind of go down the rabbit hole and help to find resources. Give somebody a breadcrumb trail to follow. Give them a starting point so that they’re not left with nothing. They are always going to have a take away. Beyond what they had when they called us. At least that’s the goal. 

With the list of 7,000 rare diseases, how often are you seeing diseases that lead directly to chronic pain?

  With at least 7,000 rare diseases, many rare diseases have chronic pain as a part of their symptomatology. Whether you look at complex regional pain syndrome, trigeminal neuralgia, postherpetic neuralgia, sickle cell disease, it’s very often part of the symptomatology of the disease. But there also can be treatments that cause disease that cause pain and chronic pain, so I can’t give you a flat answer in terms of data. And again, patients are individual, so it’s how somebody’s body is reacting to the disease process, what testing they have to go through, and what the treatments look like. 

And so, just as in pain, we have that in rare diseases you know. And it’s really interesting with 7000 plus rare diseases and 25 million Americans who have a rare diagnosis, we realize that rare isn’t really all that rare, and I’m not sure when you started in the pain field. But for me, I really started in pain management back in the 2000s. And we know that there are so many different ways that pain manifests, and we’re not just talking about the differentiation between acute and chronic. We know that it’s going to look different for each different type of chronic pain patient. 

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I saw on NORD’s website that you guys play a role in getting patients involved in clinical trials. Can you explain how NORD does this?

 Great question. So we can’t vet every clinical trial, but www.clinicaltrials.gov is really the database for clinical trials. That said, sometimes it’s a little difficult to navigate that database, so I have an information resource services. A social worker that works for me and she is really dedicated to finding those resources. Helping an individual sort of decipher what clinicaltrials.gov may present for them. Ultimately, a patient needs to speak with his or her health care provider so we can help to decipher it. We can help the patient walk through the process.  We can help patients understand if a clinical trial pertains to their diagnosis, or if they meet the eligibility criteria, or we help them find a clinical trial that they can discuss with their doctor. It’s really about starting the conversation.

We actually have a communication center that is dedicated to the rare disease community and what it does is it puts phone, fax and e-mail right in front so that if somebody has called previously they don’t have to tell their story again. Someone can call us and explain their situation and we give them resources. They can call back in the future and we can see what the next steps are. We dig through where a patient is and meet them where they are. We answer about 69,000 calls a year and about 65,000 emails a year. Wow, yeah, when you think your inbox is bad, please know that mine is way worse. 

In this field, I’m sure you come across lots of patients who are experiencing symptoms, but do not have a diagnosis. How do you assist with the diagnosis process? What direction do you point these patients in?

 It’s a great question, so when you look at the world of rare diseases, oftentimes it can take 8 plus years to get a diagnosis, and the path often follows a number of misdiagnoses along the way. So individuals go from specialist to specialist. NORD started these Centers of Excellence and they were announced last October, there’s 31 of them around the United States, and these are fabulous resources. They reduce the diagnostic odyssey that rare disease patients often experience when looking for specialists. Again, not so different from pain. We know that to get a diagnosis when you have pain can often be very difficult and sometimes. Patients are often not believed and there is medical gaslighting. You’ve heard that I’m sure, and then you know the concern that somebody may be drug seeking. 

 And so we have a lot of concerns. But not as many resources, so they sent NORD Centers of Excellence for rare diseases. As I said, there are 31 centers around the US and they are a great resource. We refer patients to the center that may be closest to them. We also do a lot of work with the Undiagnosed Diseases Network or UDN which is a research trial funded by the NIH. NORD actually provides some financial support to individuals who are enrolled in the UDN so that they can travel to the UDN site to help with the diagnostic odyssey. 

 Then we have our patient assistance programs. Many are disease specific, but if someone is being worked up, let’s say for a rare diagnosis, we may be able to help them with the cost of diagnostic testing. And that’s another area our policy team is active. We work on legislation that provides access to diagnostic testing, genetic testing, and so all of these things really work together. We’re heading in the right direction. We absolutely are heading in the right direction. We’re making progress, but there’s still more to be done. 

Could you name some organizations that NORD partners with that focus on chronic pain conditions? 

So there are certainly two fold answers. One there are disease state specific organizations. There are organizations and foundations that support gout  and F1 and so on. If someone has a specific rare diagnosis that has an advocacy group or research foundation behind them, we’re going to steer patients towards those. When we have individuals who have chronic pain and they’re reaching out to us for resources, organizations like the American Chronic Pain Association, the Center for Chronic Illness, Life Branches, Rare Minds, etc. Those are resources that we often will refer patients to depending on what it is that they’re looking for. We know that in the chronic pain space oftentimes they need some psychosocial support and mental health services as well, and Rare Minds is a really good resource. Life branches are really good resources to assist those individuals. 

 Let’s say you were to talk with a patient who is newly diagnosed with a rare disease that has chronic pain as a side effect. Where would you encourage this patient to start? What would be the first steps that you would want this patient to take?

 There is no one-size-fits-all, so the first thing is what does the individual need? What are his or her number one concerns? Are they financial concerns with regards to accessing care and treatment? Are we looking for financial resources? Are we looking for psychosocial resources? Are we looking for support groups? And so, depending on what the individual is looking for, we’re going to direct accordingly. There’s not one-size-fits-all, and I think that’s one of the other things that NORD does uniquely well. While we leverage technology in terms of getting someone enrolled in a program and providing information on our website, we are very patient centric. It’s very high-touch and so if someone is reaching out about our programs, we want to talk to them to find out what it is that they need. Because what I think they may need is not in fact what they need. I was speaking at a conference at our summit last week and one of the things that I said is “not only do we need to engage early and often, we need to ask and not assume”. 

 And in the emergency department, because we’re going at 100 miles an hour, we’ve skipped to the bullet. We say, “Okay it’s not life threatening yeah, let’s move on”. And it’s not that the patient is being discounted, not by any stretch of the imagination. But we have to draw those conclusions. Brianna, you probably do this every day. You know somebody walks in the door and we draw conclusions. It’s not that we’re trying to discount anyone. It’s not that we’re not listening, but part of the job is to make those quick decisions. Well, NORD’s job is to listen and  to ascertain what it is the individual really needs. So I really see that as a luxury in my role now. 

 When you’re dealing with someone who has chronic pain, they are complex. It’s not just about the pain, it’s about everything that goes into it. It’s about the connotations. It’s about the judgments. It’s sometimes about discriminations, and so all of that feeds into looking at individuals. 

 So with NORD, do you feel that this large resource and pool of information is something that should be shared in a hospital setting via some form of recommendation or advisory prior to patients discharge?  

It’s a great question, and so we’ve been doing a lot of outreach actually to social workers in academic medical centers because we were actually surprised to know while they may be seeing rare disease patients, they don’t know about rare disease patients, and they don’t know the resources that are available. They don’t understand the diversity and so it would be really difficult for you to have a resource library that would serve 7000 rare diseases. 

Send them my way. Send them to NORD. Rarediseases.org is a fabulous resource, and if they’re not finding what they need then they can call us and we can get them to the right resources because they’re so individual. That’s why we have 69,000 calls a year because we can’t have a one-size-fits-all workbook or toolkit because what works for one is not going to work for another. So we really do need to look at it on an individual basis, but what is very handy and what you might want to advocate for in the emergency room is use of the rare disease database on NORD’s website. You can download it. You can print it. You can send them the link.

To finish this interview, is there anything that you would like to talk about that you really want either patients to know about or you want people in health care to know about? 

 I think a really important thing for not only patients but healthcare professionals to know is that NORD is a resource and we are here with resources for the rare disease community. Regardless of the individual’s place as a stakeholder,  we’re here for patients, we’re here for families, we’re here for caregivers, and we’re also here for healthcare professionals. We do a large number of continued education courses every year, and those are often available on our website, so those are great resources for health care professionals. We’ve done webinars on A1 antitrypsin deficiency. We’ve done webinars on MSDI. If you’re looking for resources or you’re looking for information, http://www.rarediseases.org is a really great place to start and we’re always available. We truly are. We are dedicated to our mission, we truly do care about what we do. I tell everybody I get to make a difference every day. And that’s really important. 

Takeaways:

• NORD is an amazing resource available to anyone with a rare disease and for those who have not been diagnosed yet. You can call NORD at anytime and they can point you in the direction of resources that will benefit you the most.

• NORD has a database of 7,000 plus diseases. Use this database to become educated on your condition and organizations that specialize in the treatment and management of your illness.

• There is not a one-size-fits-all approach to chronic pain treatment. Treatment needs to be individualized.

• If you’re struggling with receiving an accurate diagnosis, contact NORD and ask about Centers of Excellence.

Hey guys!! Huge thank you to Jill Pollander for teaching me about NORD and all the resources that it provides. I highly recommend checking out the site http://www.rarediseases.org and seeing what resources are available to you.