Rare Disease Patients as Changemakers in Medicine: Rebecca Salky, Senior Clinical Research Coordinator for the Neuroimmunology Clinic & Research Lab at Massachusetts General Hospital

Lindsey Smith 

Hi, I'm Lindsey Smith welcoming you to Raise the Line with Osmosis from Elsevier, an ongoing exploration about how to improve health and healthcare. 

As we continue our Year of the Zebra series on raising awareness of rare diseases, we have the wonderful opportunity to introduce you to someone who has walked an inspiring path from rare disease patient to researcher at one of the nation's top hospitals working to improve care for people with the same difficult condition she has dealt with since early childhood. 

For those of you who may be unfamiliar, Elsevier's Year of the Zebra is an ongoing effort to educate millions of current and future healthcare professionals, caregivers, researchers, patients, family members, and the public about zebra conditions. 

Rebecca Salky is the Senior Clinical Research Coordinator for the Neuroimmunology Clinic and Research Lab at Massachusetts General Hospital, which is affiliated with Harvard University. The lab focuses on rare autoimmune disorders of the central nervous system, including MOGAD, the most common symptoms of which are paralysis and vision loss, and sometimes seizures.

Rebecca was a leading force in finding the correct diagnosis for MOGAD, (Myelin Oligodendrocyte Glycoprotein Antibody-associated Disease) played a key role in launching the first phase three clinical trials for it and is actively involved in patient advocacy. Thank you so much for joining us today, Rebecca. 

Becca Salky 

Yeah, thank you so much for having me.

Lindsey 

So you have a rather remarkable story, Becca. Can you take us back to the beginning of your experience with this disorder -- which at the time still was kind of unknown in those early days -- and what impact it had on you?

Becca 

Sure, yeah. It's been a long journey. So, for me, this started in 1997 when I was four and a half, almost five years old. At the time, I was kind of sick for a while. And all of a sudden I woke up paralyzed one day from the waist down. And, you know, I was four and a half, I'm now thirty-one, and I don't remember the specifics of this, but I woke up paralyzed through stories I've heard. I crawled with my arms to my parents' room and I told them I can't walk. And they rushed me to the emergency room and I was quickly, thankfully, put on high dose steroids and recovered, but soon after I lost my vision in both my eyes. 

After that, it was basically every single year until I was ten years old that I ended up having a relapse or an attack or an episode of vision loss -- I'll refer to these in those three terms basically. At the time they had diagnosed me with optic neuritis and something called acute disseminated encephalomyelitis or ADEM. The physicians she clearly has these things -- optic neuritis, which means inflammation of the optic nerves, and ADEM, inflammation of the brain and spine -- but we don't know what's causing it. We see this inflammation, but we typically see it in MS or older people. It's very rare in someone her age. So let's just treat it with steroids and be done. 

So, I had that first attack and I didn't think much of it and I continued to relapse. All I remember really from that time was being at the doctor's office way more often than my sisters. I have three older sisters and I was in the hospital or at the doctor's office pretty constantly. Then in school, I was taken out of classes to the nurses station so I could eat my snacks and I was on very high-dose steroids a lot of my childhood. So, I had to take some breaks. I had some emotional things with that as a kid, and I think there were things that were happening to me that I didn't acknowledge at the time. Now looking back, I'm like, of course that had an effect on me, and I was going through a lot.

But I was totally fine from 10 to 15 years old, and so it was thought of as a childhood illness. It didn't really, I think, start to impact me until teenage years when not only did I get worse, but I was dealing with all the things that come with being a teenager. I was 15 years old and had a seizure in the middle of math class. I'm around all my friends. It was a very small school. I was put on steroids again, I gained a ton of weight, I had acne...all these things that were coming at me as a teenager that I think the impact really hit in those years. 

And then, I lost my vision in one eye in college, and things started to hit me there and I think there was a lot of anger, a lot of frustration, and a lot of loneliness throughout those years until I learned what would help me cope, which was advocacy and figuring things out as much as I could -- which I'm not sure is the best coping mechanism, but it helped me at the time -- and helping other people.

Lindsey 

Thank you so much for sharing your personal story with us, Becca. So just to kind of play that back...you first notice symptoms around four years old, lots of relapses throughout that; and then you had the stretch from 10 to 15 where things seemed pretty normal for you; and then 15 onward, things got a lot worse. When did you kind of come to your diagnosis?

Becca 

Well, it’s complicated question because I came to the diagnosis myself, I think, in late high school. I stumbled upon this possible diagnosis of -- at the time it was known as myelin oligodendrocyte glycoprotein disease, so MOG -- and I came upon these studies that were done just in mice that showed basically the exact disease pattern that I had. 

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But I didn’t get a diagnosis until I was 22 years old and I was in nursing school. I was in New York City and just setting up care with a new doctor. It's a great story because at that time, the MOG test had been out for maybe six months at that point. I had done about two or three tests where I was testing negative, but I was sure I had MOG. A lot of doctors were sure that I had MOG and they knew I was testing negative because I was on immunosuppressive treatments at that time. 

So a doctor at NYU decided to just see if it was possible if any of the doctors I'd previously visited might have stored my blood and he found out that I had been to Mayo Clinic. And thankfully -- whatever is out there, thank you -- because Mayo decided that I was so interesting that they should store my blood and just keep it for a while. So the doctor ended up calling Mayo saying, “Do you happen to have any of this girl's blood? She's an interesting case.” It turns out they had stuff stored in the freezer. So they took my old blood, retested it, and I got the positive MOG test from blood from six years prior.

Lindsey 

Wow. That's, that's an incredible story. We've heard from so many rare disease patients that talk about how long it takes to get to that diagnosis, you know, on average between five to seven years. But in this case, it seemed much longer, for you. I think the interesting part is going back to that piece about advocating for yourself and pushing and how you came to this diagnosis, maybe before some of your medical providers did. Can you talk a little bit about that?

Becca 

Yeah, sure. So it took from four to twenty-two to get the diagnosis, but a huge part of that was actually just the fact that MOG wasn't even diagnosable until 2016, which was the year I got diagnosed. So while a lot of patients, I think, with rare disease have the experience of being really dismissed by their doctors and just being told, like, you're making this up -- especially a lot of young women with rare disease have that experience -- I think I was taken pretty seriously early on, probably because it started when I was four years old and it just was so predictable in a way and also predictable in how it happened always in April or like around stressful times or after an infection. 

And of course I wasn't going to be making that up as a young child. So I think I didn't feel the dismissiveness that many young women with rare disease felt, but I did feel the like dismissal because they couldn't figure me out. And I was so complicated and it was just like...I think the doctors knew that they had no idea what was going on. 

Lindsey 

So, now you get your diagnosis, MOGGAD. For those who might not be familiar, can you take us through what that is, and what's happening inside the body during a MOGAD attack?

Becca 

Yeah. So what happens in MOG is that there is something attacking the myelin on the cells. Myelin's the protective covering on the nerves. And so in MOG, the myelin itself is being attacked and degraded, so there's less protective covering on the nerves so the impulses can't travel as fast. Sometimes that just means -- not just, it's pretty terrible either way -- but sometimes that means numbness, tingling, or a little bit of blurry vision. Sometimes that means full on paralysis, seizures, brain fog, headache, fatigue. It can be very variable for different people depending on what is affected. 

So for me, what's been affected most are the optic nerves and the brain and the myelin sheaths are just completely degraded, so impulses will take longer to travel. I am completely blind in the right eye, but I can see out of the left. For me, it hasn't affected my spine since I was four years old. So I am able to move and walk and I have full mobility, but I have friends who have numbness, tingling and or paralysis in one limb or another due to MOG, and I have some friends who have seizures and have to be on long-term seizure medications because of the inflammation due to the attacks on the brain.

Lindsey 

So what does it look like for you in your day to day dealing with this?

Becca 

It's affected me most in that I no longer see anything out of my right eye and I have partial vision in my left eye. So I'm not able to drive. It's definitely affected my ability to just be out and about and sort of feel comfortable. I look kind of healthy on the outside, but when I walk into a crowded place, I will immediately have people running into me and they think that I'm just oblivious when really, I'm like, I can't see you. I had no idea you're there. And I try to do my best. I try to put my right arm out when I'm walking so that maybe they'll walk into that instead of my face or something. But just it does take being a lot more careful of my surroundings because of the vision loss.

Then, because of treatments I've been on for MOG, I've accumulated a lot of different illnesses over the years. So, I have just a lot of comorbid conditions, a really complicated case that's really hard for my doctors to like one, figure out, but also just communicate about. I have over 18 specialists that I see and having them have communication and

understanding about all these sometimes rare conditions is really hard.

Lindsey 

Absolutely. I want to talk a little bit about you and your career as a nurse and in medical research. Why did you decide to get into that field?

Becca 

Yeah, I honestly originally was gonna get into psychology and that was my goal. And then once everything started getting sort of worse for me in college and I was in the hospital a lot, I had some really incredible nurses who were truly my inspiration. I was like, I want to be you. You helped me so much. I was very depressed in college. I was going through a lot. Just lost my vision, had a breakup. Things were going not so well for me. And this nurse -- I remember her so well -- she really just got me out of that and was my person, and it was a big inspiration for me.

My school had a really cool program that allowed me to go to a nursing school because it used to be connected to my college, so it sort of just like felt like fate. I was like, “Oh, I already sort of wanted to do this and now I have this path that allows me to transfer some of my credits and get in more easily.” So I ended up doing that.

Nursing would have been great if I felt physically capable of it. It was very demanding physically and emotionally, and I do have to set boundaries with my health and I have to make sure that -- both for other people's safety and just my own health -- that I am in a career path that makes sense for me, and it didn't. 

So I did neurology nursing for a year and a half. I learned a ton and I learned what really it's like on the other side...on that nursing side and it is so hard. I really am grateful just to have had that experience and to know what's happening there. But it was too hard for me and it was too much given my vision issues. 

So, basically a couple months after COVID started, I quit nursing. It just it made sense for me based on the immune therapies I was on. I was unemployed for a while and I decided to get into patient advocacy. I was sitting around not doing much and I was like, let me get involved in the MOG world, and so I started support groups. People at the MOG Project invited me in and said we'd love for you to do your support groups with us. And through that, I got reconnected with an old doctor of mine that I saw in high school, one of the specialists I saw, and he learned what I had been doing as a nurse and in advocacy, and he offered me a job up at Mass General in research. So, that's now what I'm doing.

Lindsey 

That's incredible. I just had a quick follow-up question for you...do you find that your lived experience gives you a different kind of connection with patients when you were a nurse?

Becca 

Yes, definitely. And I think it made me more hesitant to want to put IVs in them. It made me more hesitant to want to do anything that would hurt them. In some ways, it really enhanced the experience and I think it made patients really trust me. I could understand them and empathize with them.

It also made it harder to be a nurse because I didn't want to hurt them and I didn't want to wake them up at three o'clock in the morning to do vital signs or to go be taken to an MRI. So, yes, it helped in a lot of ways and it harmed in other ways. That's what I'm trying to work out right now, really, is like, am I capable of having that direct patient experience in a way that's beneficial for both me and the patient, or am I better on the back end and helping the system change and things like that?

Lindsey 

From nursing to advocacy work to today, working at the neuroimmunology clinic and research lab at Mass General...can you talk a little bit more about the role that you play there today?

Becca 

So, I am helping run clinical trials for MOG and that's been a very cool, very different, new experience for me. But in 2021, I came up to Mass General to start up the first two phase three trials in MOG. At first, I was sort of the hands on the ground type person and meeting with the patients and getting the trial started. These days, I've taken sort of a step back from that role just because again, because of my health, I've had to.

I’m aware that some days, I simply do not feel well enough to get up and be a provider or a clinician and I can't predict those days, so I learned through like trial and error that what's best for me is taking sort of the managerial or wider role of just helping other people. 

So at this point, we have like 11 trials going in neuromyelitis optica, MOG, antibody disease, MS, and a couple of other rare neuroimmune diseases. I help the coordinators run those trials. I do the startup, I do the regulatory and the finance aspects of that and I like to pop in on visits and say hi to the patients and we get to talk for a few hours and that's the patient interaction that I want anyway. Again, I don't want to be hurting them or anything like that, so it's kind of nice to just pop in, get to see the patients, get to see who I'm helping, but really helping the coordinators and the team and the fellows with their research and, yeah, taking a step back from the hands-on.

Lindsey 

It sounds like a really impactful place to work. I want to talk a little bit about the MOG community that you've mentioned previously that you've been involved with. Can you talk about some of the work that you've done in that regard?

Becca 

I’m so grateful for the MOG Project. I found after I posted on what I thought was just like a random MOG page on Facebook. I just searched MOG and posted on this page. It turns out later on I've learned the MOG project ran that page. I posted on it and I said, “Is anyone interested in a support group for young adults?” II was 23 at the time, and so I was interested in anyone wanted to join a group for 21 to 30 year olds. I expected maybe a couple of replies and I think I got over 80 responses of ‘yes, we want this.’

The MOG Project had already had support groups ongoing. Their focus is support for patients, awareness for general community as well as patients and further education for patients as well as researchers and providers. So one of the core things that's really cool about the MOG project, and that I am also involved in, is the research grants that they that they offer. 

If you are a MOG researcher, you can apply to the MOG Project for one of their grants and there's still so much to learn. It's been nine years since the test was commercially available, so we’re really at the forefront of helping gather more evidence and more research to help patients with MOG. So, it's nice to be on that team and be a part of all of this.

Lindsey 

That community element, I think, is so important...just to have that sense of community working on the research piece of it and the advocacy work. Can you tell me a little bit more about what the “power of the flock” means?

Becca 

Yeah, the power of the flock is basically we will have more impact the more of us there are and the more we get together. It is life changing to meet someone else with MOG. I hadn't actually met someone else with my condition until I started my job in 2021 -- I mean in real life and face to face up close and personal. Now I've met like at least 50 people and I've met hundreds through online communities and you really just feel this sense of community power. Like, there are other people who understand exactly what I've been through, exactly what I deal with when I go to the doctor before the appointment and after.

If there's the “power of the flock,” it's just like there's a sense of power and security and control when you have others on your side. You're not alone in this journey of the rare disease.

Lindsey 

That's incredible to hear, and I'm really glad to hear that there is such a sense of community with other organizations stepping up in this space. Do you think collaboration between many of these other rare disease groups is improving or is there still some fragmentation there?

Becca 

Yeah, I think it's definitely improving. I do think, of course, there is still fragmentation. I would love to see more collaboration between the organizations. Right now, if I were to think of the MOG organizations -- MOG and Neuromyelitis Optica are still somewhat connected – it’s the MOG project, the Siegel Rare Neuroimmune Association, the Sumaira Foundation, and the Guthy- Jackson Charitable Foundation.

Though we do see these foundations working together sometimes, I think we really need to bring every single person in, not only the foundations, but the pharma companies that are really interested, the doctors, the hospitals, the key stakeholders all need to come together in order to make any real significant change And I do think we're seeing that more in MOG. Like it's very cool to watch and to see, and I think it is only going to lead to better things, so I hope to see more of it in the coming months and years to follow.

Lindsey 

Yes, and we'll be watching the space as well and hope that everyone can come to the table to see that real change that we need to see. So, I want to talk a little bit about Osmosis. We are a teaching company and we love to fill knowledge gaps. Do you think there is a topic that Osmosis should make a video about to fill a gap that is of particular concern or interest to you?

Becca ,

Yeah, I think you guys have been doing like a really cool thing with The Year of the Zebra. I already think you've brought so many amazing stories to the forefront. I wasn't able to go through every single one, so maybe you've already covered this, but I think that there is something that's missing in just the general atmosphere of rare disease and severe disease is that there can be diseases like Mog that are not death sentences and they're not like the most severe urgent action-calling diseases, but they're still chronic, severe diseases that we live with every day. 

So, sort of understanding just the real experience and also the experiences of being dismissed that we feel by peers, by society, things like that. I think what you've been doing and opening up the stories to patients who have real lived experience with this is so important and just sharing it as much as possible. I think we all want to be heard or we feel somewhat like, we're not asked a lot to share our stories and so we might be nervous at first, but like we want to tell you and we want to be involved in change making in medicine. 

Lindsey 

That's a fantastic idea and it reminds me of part of our Year of the Zebra project which is a video series called “I Am a Zebra” and “I Know a Zebra” where we did exactly that...sharing real life patient stories and we feature them in our monthly newsletter. So, definitely check those out in the future. 

I wanted to give you a chance to give some advice to our students and early career health professionals that are in our audience about meeting the challenges of this moment and approaching their career in healthcare.

Becca 

I think it's so important to be curious and open. Like, a patient might come to you with the rarest, weirdest symptom you've ever heard of, and instead of saying like, I'm not sure and let's refer you or something like that, just be curious...be like, “Could this the reason they brought it to me is because they think there's some connection that I should know about?” 

I do understand the demands these days in medicine and there are so many patients and there's not enough time, but if you're curious, if you're seeing patterns, if you're noticing things that should be looked into, at least -- if you don't have the time for it -- bring it up to your team, to other colleagues. Maybe someone is interested and does have the time.

Openness, curiosity, and collaboration I think are the three things that I feel are missing in medicine as a patient.

Lindsey 

That’s thoughtful ,great advice: be curious, have openness and have collaboration with your team. Thank you so much for sharing that with our early career health professionals and students and thank you so much for being with us, Becca, and sharing your story.

Becca 

Thank you. Thanks so much for having me.

Lindsey 

As we wrap up today's episode, we want to thank Rebecca for sharing not only her remarkable journey from patient to pioneer, but also her deep commitment to advancing care and understanding for those living with rare neuroimmune conditions like MOGAD. 

Her story is a powerful reminder of the resilience within the rare disease community and of the critical role that lived experience can play in shaping research, advocacy and ultimately, better outcomes for patients.

At Elsevier, through our Year of the Zebra initiative, we're proud to spotlight voices like Rebecca's and to continue our mission of closing knowledge gaps around rare diseases. Whether you're a student, a clinician, a researcher, or someone personally affected by a rare condition, we hope today's conversation leaves you feeling more informed, more inspired, and more connected.

If you'd like to learn more about MOGAD, the Neuroimmunology Clinic at Mass General or the MOG Project, check out the links in our show notes. And don't forget to subscribe to the show so you don't miss out on the next Year of the Zebra episode or newsletter.

Thanks for listening, and as always, keep learning, keep asking questions and keep looking out for those zebras. I'm Lindsey Smith. Remember to do your part to raise the line and strengthen the healthcare system. We're all in this together.