Understanding Rare Neuroimmune Disorders: A Guide for Mental Health Professionals

[00:00:00] Rebecca Whitney: You might be the only individual that a neurologist has seen in the last 20 years with that diagnosis. So, it's incredibly important for our community to be able to connect with one another. [00:00:11] Introduction --- [00:00:11] Meghan Beier, PhD (3): Welcome to our newest podcast series on rare neuroimmune disorders hosted by me, Dr. Meghan Beier. This series is designed for mental health professionals seeking continuing education, but can also be valuable to community members looking to learn more. If you are a mental health professional, get your CEs by clicking on the link in the show notes. Please note that a portion of the proceeds for CEs go to SRNA to support individuals and families like those you'll meet in the next three episodes. Let's start by defining neuroimmune. [00:00:49] To do this. We hear from Dr. Blackburn an Assistant Professor in the neuroimmune division of the UT Southwestern Department of Neurology. He has training in the diagnosis and treatment of multiple sclerosis and rare neuroimmune disorders. He has a particular interest in antibody associated neurologic disorders, such as neuromyelitis optica, and neuroimmune encephalitis. He sees patients in the multiple sclerosis and neuroimmunology clinic. [00:01:22] Main Content --- [00:01:22] Dr. Kyle Blackburn: So a neuroimmune disorder. I think the best way to describe that is to kind of think of it as a mashup between two words. Um, and those two words are kind of neurological and autoimmune, so, When somebody says, um, they're treating a neuroimmune disorder, they have a neuroimmune disorder, what, what they're saying is that they have, um, a disorder where the nervous system has been attacked by the immune system and that has caused some injury and that, that's often what we call an autoimmune disease, where the immune system, um, for reasons that are still being elucidated, has launched an attack on the nervous system. [00:01:59] And you can think of that as if it were an infection, is probably the most simplistic way to think about it. [00:02:03] Meghan Beier, PhD (3): Rebecca Whitney, one of our representatives from the Siegal Rare Neuroimmune Association or SRNA, also shares her definition. [00:02:12] Rebecca Whitney: My name is Rebecca Whitney. I'm an associate director, um, of community programs and resources here at SRNA. [00:02:21] First of all, it's rare. It's not something that we're seeing as frequently as say, multiple sclerosis. Um, I think that's something. people are generally familiar with, um, and is also kind of in that category of neuro, neuroimmune disorder, right? Um, so it's not happening on a regular basis. Um, it's neuroimmune, so it's targeting the nervous system specifically in these diagnoses, the central nervous system, um, and also has an immunologic component to it, right? [00:02:56] So the immune system is being activated and in these circumstances it is attacking itself and in particular that central nervous system. and there are a couple of the disorders that can be recurring. In nature. So they require ongoing immunosuppressant therapies and others, um, like in idiopathic transverse myelitis diagnosis, someone may only have one instance of inflammation such as the case in my son. [00:03:29] He only had that diagnosis that one time, but it's impacted the rest of his life. [00:03:34] Meghan Beier, PhD (3): As you just heard, Rebecca doesn't just work for SRNA, s he has a personal experience that led to her career. [00:03:42] Rebecca Whitney: So I have a now teenage son who was diagnosed with longitudinally extensive transverse myelitis when he was four months old. Um, I found the organization early on in, in his journey after the diagnosis. Um, and five years later we ended up attending a family camp. [00:04:06] I started as a volunteer and then moved on to become an employee and 15 years later, here we are. [00:04:14] Meghan Beier, PhD (3): Above Rebecca hinted that the conditions that we'll be talking about in this series are rare. They aren't seen as often as something like multiple sclerosis, but what does that actually mean? Dr Blackburn explains. [00:04:28] Dr. Kyle Blackburn: There's actually a definition that has been set out by, um, an organization called NORD, or the National Organization for Rare Disorders. And they have defined it as a disease that affects less than 200,000 people in the United States. Um, now these are. Like each disease itself is rare, but it's not unusual to encounter someone with a rare disease because about one in eight people have one. [00:04:52] So there's about 25 to 30 million people in the US that have a rare disease. Um, even though individually each of those diseases affect less than 200,000 people. [00:05:00] Meghan Beier, PhD (3): Now that we have defined rare neuroimmune disorders, we will explore in greater depth. Some of the specific diagnoses that fall under this umbrella. What do the different diagnoses look like? What are some of the common symptoms? First up we have acute flaccid, myelitis, or AFM. [00:05:19] Dr. Kyle Blackburn: Acute Flacid myelitis is a disorder that, it's a little bit of an exception to the dis the rest of the diseases we're gonna talk about. But it is, um, we lump it in here because it's an important cause of dis of disease that looks like a neuroimmune disorder, like a true autoimmune disease. But acute FLA in myelitis is due to an infection. [00:05:41] Um, it's actually a common respiratory infection, um, called antra. That can very rarely spread to the spinal cord and that infection of the spinal cord and the resulting inflammation can cause injury, um, to the spinal cord and cause the deficits that appear. [00:05:59] Meghan Beier, PhD (3): Moving on to transverse myelitis. Dr. Blackburn explains what this condition is and its impact on patients. [00:06:07] Dr. Kyle Blackburn: So transverse myelitis, um, I always go on a little bit of a soapbox about this, but that, that term, Um, then the reason you've heard it applied in different settings is really what that term boils down to is it means spinal cord inflammation. Um, it's just kind of a generic term that we use to say someone had inflammation of their spinal cord. [00:06:25] So it kind of, it doesn't tell us the exact why or, or why, the exact why that's causing. It's just kind of a general term. and after, uh, really the term transverse myelitis is often used to define what we call idiopathic transverse myelitis. So that means somebody has inflammation of the spinal cord, and we have gone through all of the known infections and other diseases like MS. [00:06:52] And, and sarcoidosis and NMO, we've looked at all of those possible causes that we know of that can cause that inflammation, and we've effectively ruled them out. And that's the label that we apply, is that this was an idiopathic transverse myelitis. And most people for, uh, brevity's sake shorten that to transverse myelitis. [00:07:11] Meghan Beier, PhD (3): To provide a more personal perspective on this diagnosis. Let's hear brief accounts from individuals who have encountered transverse myelitis. First we'll listen to Cyrena who is currently living with the condition. Then we'll hear from Rebecca, one of the SRNA representatives whose son was diagnosed with transverse myelitis as an infant. Lastly, we'll delve into the experiences of SRNA's founder, who also faced this diagnosis. [00:07:40] Now Cyrena. [00:07:42] Cyrena Gawuga: I, in My present life, I am a research director at a nonprofit organization. Um, we work on health equity issues and one of the things actually we're branching into is rare disease, which is kind of exciting. I spent a lot of time in academia, and in graduate school. I have, training in, pharmacology and social work. So actually my first incident happened when I was in graduate school, it was kind of like a big break before and after experience. Um, and I finally, after a number of years of the investigation, got a diagnosis of transverse myelitis. [00:08:30] It was one of the like differential diagnosis up, not diagnoses upfront, but then it got kind of muddled. So I have lupus and um, I've had lupus since 2012. I was dealing with a number of different doctors at the same time and, you know, often communication is not great. [00:08:54] So, you know, one doctor thought, oh, this looks like a spinal stroke. Another doctor said, this looks like transverse myelitis. And so it wasn't until I switched my care. From, um, kind of having like these individual doctors that was going back and forth to a more of an integrated medical system that I got a confirmed diagnosis of transverse myelitis. [00:09:19] It didn't necessarily. Um, changed my, you know, experience of symptoms, but it changed the medical approach to my illness and, um, the development of a treatment plan. So before I moved medical systems, I didn't have an established neurologist. I was really dealing mostly with, with a rheumatologist kind of neurology consult when I changed to the integrated medical system. [00:09:52] Um, so just for reference, I live in Providence, Rhode Island, and so I am about an hour from Boston. So I moved my care from Providence to Boston. When I moved my care to Boston, I got into a lupus focused, um, rheumatology center. And, um, I was immediately connected with neurology because of my history of, um, let's say at the time spinal cord injury. [00:10:19] And, um, once I got to neurology, I was established with a neuroimmunologist. And, and so, um, it's kind of for me, a, an an example of how. Care can be fractured for a lot of people and there's a really significant privilege in being able to have this team that is, you know, has significant expertise in the conditions that I have and that actually communicate with each other, um, with regards to my treatment plan. [00:10:56] Um, So that's kind of the, the, the, the sort of like overview of my experience with transverse myelitis and it is just it transverse myelitis, more specifically lupus myelitis, which looks a little different in the sense that. , it's not idiopathic, which means it doesn't come out of nowhere. It's definitely associated with, you know, an autoimmune response, inflammatory response from the lupus, and it's more likely to recur. [00:11:32] So I've actually had three separate incidences of, um, transverse myelitis, um, with three different inpatient experiences. But, I think that one thing I would've liked to know is that it could happen again. The first time it happened again was very, very unsettling. [00:11:58] Meghan Beier, PhD (3): That first event that you described while you were in grad school, what were some of the symptoms that showed up and then when they showed up, kind of what was your emotional reaction, the thoughts that were going through your mind, how were you reacting to it? [00:12:11] Cyrena Gawuga: So it's a really. Retrospectively, funny story. Um, and I very much never recommend that people do what I did. So the first symptom that I had, and it was like, it was, it was like kind of late at night and I was lying down and I experienced this really severe like, Burning pain in my back. It was just kind of like, you know, someone took like a red hot poker and shoved it in the middle of my back and I just, I didn't know what to do about this, so I got a heating pad and laid on it, and it was just, It was unbearable. [00:12:51] And like I remember like hitting my wife at some point who was asleep next to me. I'm like, I don't feel good. Um, and so I called, um, the rheumatology on call and I talked to the doctor and he said, well, you know, you can take some Tylenol and see how, how it goes. Um, I don't have Tylenol. It doesn't work. [00:13:14] So , um, I, I took some Aleve and I kind of hung out to see what would happen and the pain wasn't going away and so I did, I actually sat on the edge of the bathtub and started looking up symptoms of heart attack because thought maybe I'm having heart attack. . If you think you're having a heart attack, you don't look up symptoms, you go to the er. [00:13:32] But that's what I did and so I. Thought, okay, I can walk this pain off. Maybe this I'll be fine. And so I had a cane cuz I had had surgery a few months prior and so I had a cane in my house and so I started kinda walking back and forth and by this point it's like 2:00 AM or something. And I noticed I started like kind of leaning. [00:13:56] And leaning and then starting to fall into the wall. And I thought, oh, this is strange. Maybe it's cuz I'm tired and in pain. So I went to lie down. Um, again, don't do this, but I went to lie down and as I was lying down, I realized not only was my leg starting to, become paralyzed. But my hand was starting to feel really tingly and strange, and then I couldn't move it anymore. [00:14:21] And so I thought, okay, I'm in really severe pain. I'm pretty much paralyzed on my left side. Um, but maybe it will go away. Uh, it didn't. Uh, so I kind of went through, I thought, well, I'm not serious enough for an ambulance. Which I probably was. Um, and I was like, Maybe I can call the police and they'll take me. [00:14:48] No, not really. Can I call a cab? No. Um, and I'm still like paralyzed on the one side and, um, still in, like, we're at 10 of 10 by this point. And eventually I ended up taking the bus to the hospital, um, which I don't recommend. So I got to the hospital and then things kind of started going. Very quickly. [00:15:14] Because number one, I was fortunate enough that I called rheumatology on call and said I'm going to the hospital, and they had called the hospital. So when I got there, I managed to just bypass, you know, the whole like triage system because they knew I was coming and the rheumatologist had already told them the kind of symptoms that I was having. [00:15:38] I still at this point hadn't really processed. You know, the paralysis was going to last more than, you know, a temporary period of time. And, um, so I was in, uh, I kind of like call them the v i p rooms, so it wasn't like the cur curtained off part is like the glass part where, you know, and I thought, okay. [00:16:03] This is fine. They gave me morphine because I said I, I, I said I, oh yeah, my pain's a 10 out of 10 as I was smiling. So I don't know if they trusted me, but they gave me morphine, which was nice. And, um, when I realized that this was a serious issue and that I probably wasn't going home, um, and I will say that I. [00:16:27] Asked my wife to bring me my iPad so I could do some research on what was happening. And as I was doing the research on the iPad, I saw like a whole bunch of white coats coming at me, which, you know, once I saw that, I said, I'm not going home and something weird is happening. So, uh, that was kind of, uh, my symptoms and how I ended up, um, in the hospital. [00:16:53] Meghan Beier, PhD (3): Caregivers loved ones and support partners are also often the forgotten population impacted by rare conditions like transverse myelitis. Here Rebecca shares more about her own experience with her son's diagnosis. [00:17:08] Rebecca Whitney: For care partners, caregivers, parents, there's a trauma for them as well, that they've been. , um, and how that impacts their daily lives and how they continue to care and support the individual who's been diagnosed. [00:17:26] And I can only speak to it from the perspective of a parent. When my son was diagnosed, it, it, every member of our family, it has changed our lives forever. My husband, my other two children, um, Where we are now, we would, we would not be had my son not been diagnosed. It impacts so much, um, relationships and careers, and even those of, of siblings, you know, those who, who are kind of adjacent to [00:18:02] You know, people looking to find their family, they're looking to connect and to, to find those who can understand what those challenges are, perhaps even without having to put too many words to it, right? [00:18:18] So there are times where I've spoken with other parents who apologize for. For crying on the And I tell them, please do not, because it, I, I get it. I get it. I know what their heart is feeling and words just can't describe it in that moment. Right. And they shouldn't have to apologize for having those, those emotions and those unexplainable questions surrounding a diagnosis. [00:18:51] Sometimes just being able to connect with someone who can feel that and understand that your life is incredibly different than say your siblings or your coworker. [00:19:04] Um, and it may not be entirely visible, um, can make all the difference in the world in not feeling so isolated. And then I think that really is one of the big things, is just feeling that isolation, feeling that isolation from the medical professionals, um, who are treating, um, who are like, oh, you had transverse myelitis. Your spinal cord is no longer inflamed, but. , you can manage your neuropathic pain, you can manage the foot drop, you can manage the neurogenic bowel and bladder. And it is not that easy to say that, um, because those are things that change the course of someone's life. So, and from the outside, whether it's, you know, family and friends who may be rallied around to support at that initial diagnosis, they're back to life as usual. [00:19:55] And yours, you have to change. not in every circumstance, but in many, how you go about every aspect of daily living. Um, and that's, I think, probably the overbearing challenge is that life, as you know, it has been flipped upside down. And you have to come to terms with what is it that you need to do next? [00:20:17] How do you continue to move forward? Um, how do you find joy? How do you, how do you just maintain and, um, continue in recovery? What's next? What does it mean? And I think those are the biggest challenges. And then along with that comes that mental health aspect of it all. And one thing I think is really important for people to recognize is whenever you're handed a diagnosis like this is, there's a cycle of grief that they go through. [00:20:47] And I think it's hard for people to put that label on it. But I think it's important to recognize, and I think it's also important to recognize that it's a cyclical event. [00:20:58] Meghan Beier, PhD (3): Rebecca continues by providing some history of the SRNA founder diagnosed with transverse myelitis in 1994. [00:21:07] Rebecca Whitney: The Siegel Rare neuroimmune Association. Um, we get our name from our current president and, um, one of the, uh, founders who have had a significant impact on this community. Sandy Siegel and his wife, Pauline Siegel, um, was diagnosed with transverse myelitis in 1994 and, They have run up against the same thing that so many people still do today, and that there is limited information about the diagnosis, what is happening, why it's happening, uh, who is available to diagnose and treat it appropriately, um, and, and quickly. [00:21:51] And what does it mean after you have that diagnosis? What does it mean for the next weeks, months, years of your life. They came together with other individuals in the community and started the Transverse Myelitis Association and really wanting to focus on supporting others who found themselves in this same situation, um, where they. We're alone. They did not have the information that was available in other disorders. And so they came together as a community, really supported people from the community by getting on the phone with them, um, on an individual basis, sending newsletters and um, getting institutions involved in research and education for the individuals who've been diagnosed. [00:22:40] And through those years, they also. We noted other disorders that were happening that were slightly different, but yet the same. We became very inclusive of these additional disorders and, um, Pauline tragically passed away. Um, Several years ago, and we decided to change our name to show that we were more inclusive of these other disorders and it only seemed the most appropriate to honor our founder, Sandy Siegel. [00:23:12] And, um, in memory of Pauline, as well as being significant captains of the ship. [00:23:20] Meghan Beier, PhD (3): Next on our list is optic neuritis. Dr. Blackburn sheds some light on the similarities between this condition and what we've just learned about transverse myelitis. [00:23:30] Dr. Kyle Blackburn: Optic neuritis just means that there's been inflammation in the eye nerve and many, many causes that can happen. And a, after a thorough workup that rules out common infections and rules out diseases like MS or NMO, uh, a person may be said to have idiopathic optic neuritis. [00:23:47] Meghan Beier, PhD (3): And since you mentioned NMO, can you tell me a little bit about that? [00:23:52] Dr. Kyle Blackburn: Sure. So NMO, is a disease that can actually impact any part of the central nervous system so it can impact the brain, the spinal cord, or the nerve that controls vision. And unlike some of the other diseases we've talked about prior to this, NMO is a disease that has a very high risk of recurrence. [00:24:11] Um, the majority of patients will go on to have a recurrence at some point in their lifetime. Uh, and that is most of those patients are defined by a blood test that finds a specific marker called an antibody in their blood that we call Aquaporin-4 (AQP4), or the NMO antibody, um, but those patients are at particularly high risk of relapse and often require treatment because of that. [00:24:32] Meghan Beier, PhD (3): Now let's take a closer look at the human side of this condition. We hear first from Ireland, a college student living with NMO. She shares about her diagnosis and the emotions she was experiencing during that challenging time. Of note, there is some background noise for her interview. [00:24:52] Ireland: I am enrolled in at UCF or U University of Central Florida. Uh, and I study creative writing and, um, sociology, psychology, that sort of thing. Um, mostly in a focus in medicine. Uh, i, I like the idea of, um, collecting and presenting patient stories. [00:25:07] That's absolutely, uh, my favorite thing to do is write about my story and, and, um, uh, help put down to paper other people's stories. But for me, uh, I was a childhood diagnosis. I have had NMOSD since I was, uh, six years old. Um, and my initial symptoms, uh, w was pretty similar to Cyrena, uh, in that I had, uh, intense back pain, uh, like the worst fire you could possibly imagine. [00:25:33] Um, and even in my adult life, I've, I've never experienced such awful pain as I had. Um, when I was six and seven and eight, we went to doctors quite a few times, but, uh, we were not able to get care just because they, due to the pain and due to a brainstem lesion. I was, uh, vomiting like uncontrollably. Uh, so they chalked it up to more of like a GI issue. [00:25:56] Uh, so they kept looking into, into GI, oh, it's something with the GI um, or just growing pains or, or, It was just difficult to get a diagnosis and, and definitely there was not much, um, resources back then. It was, um, 2008. So it was, it was a little bit ago. Um, but, uh, so I didn't get, uh, a diagnosis until I turned eight. [00:26:18] Uh, and that was when I went blind in my right eye. Um, and even though going blind in my right eye was horrifying, we went, I went blind in my right. Uh, overnight. So I, I, you know, I was fine one night I had a little bit of a headache. Um, and then I woke up the next day with my right eye centrally, pretty much gone. [00:26:35] Um, and. Even though that was horrendous, that was like the, the proof that we needed that something serious was going on. Uh, so after that, we were able to get into ophthalmologists, ophthalmologists, neurologist, and it just got, you know, shuffled about a little bit. Uh, and I got my test done. It was positive for NMO. [00:26:54] Um, and since that point I had a couple more flares, but overall, I've been doing pretty well. [00:26:59] Meghan Beier, PhD (3): What were some of the emotions that you had going through all that whole process? Cuz you clearly were not diagnosed right away. This was, you know, visiting multiple doctors, having to have more symptoms before they really dug into it. So, were there emotions for you, for your family? What kind of thoughts were going through your mind? [00:27:17] Ireland: So for me, I would definitely say since I was six and seven and eight, uh, the thoughts were not like, uh, not, not as logical. Maybe they're more like, You know, why am I in pain, mommy, and, and help me. It didn't make a lot of sense and it was just, you know, utter confusion. [00:27:36] But also just misery and, and, and wanting it to be over and, and, um, not being able to comprehend it a way an adult could, where, where you kind of, like, you think about it and you think about that it's gonna be over soon. It was more like, just like this endless night of, of, of bad pain. Um, and I didn't have likes like, um, immediate paralysis or anything like, But it did have, um, pretty bad muscle weakness where I could not stand for longer than 10 to 20 minutes. [00:28:05] After having those individual flares when I was, uh, six and seven and eight, I would just have, you know, like a week at a time where I'd just have the, that horrendous back pain over and over and over again. Um, but then it would go away for a little bit and it would just happen in, in cycles like, . But definitely it was not, it was not really something I processed fully until I got around 10, 11, 12 and started to get, you know, a little smarter where it's just like, uh, growing up for a lot of people, a lot of people have it where they have like, you know, a before and an after for their life. [00:28:38] So it's like, this is before I got sick and this is after I got sick. But for me, growing up with having it ha being sick, um, is just a kind of a different beast to, to tackle where it's, it, I, I uncovered things over time where it's like, I, I realized that it was something I could potentially die from. I didn't realize that until I was around 10 because this, these are things that, that kids don't realize that I, I just, I just thought, oh, this could paralyze me, this could lie me. [00:29:04] Both of which are, are terrifying prospects. Uh, but there there's definitely things that, um, my parents, uh, shielded me. Until I, you know, realized it through my own intelligence, I guess. So it was definitely a long journey, but, uh, initially, um, really it was just fear. [00:29:20] Meghan Beier, PhD (3): Now Doug Kirby also shares his story of being diagnosed with NMOSD. [00:29:26] Doug Kirby: So I started having symptoms in the fall of 2016. And they were nausea, vomiting, and then intractable hiccups and went to the ER several times and they cried different things and nothing seemed to fix that. And then in late 2016, around Christmas, I started having some tingling and different sensations in my body. [00:29:47] And that kind of pushed me towards thinking this might be neurological. I, uh, remember grabbing a carton of milk out of a cooler and it was warm and put it back in this hand, and it was cold And that was odd. And um, um, I should say I have a brother and a sister that both have MS. So at this point I thought, well, it's my turn. [00:30:09] So I got connected with a neurologist and, uh, before I could actually get in and have my test run before the MRI and the the lumbar puncture, I lost all the ability to walk over about a period of a week. My legs got worse and worse, like they were asleep and they wouldn't wake up. And, uh, it was a Thursday. [00:30:30] I remember walking out of work hanging onto the walls, to try not to fall down. Uh, that's how bad it was. And by Sunday, I couldn't. Didn't stand up at all and most of my body was numb. Um, I'm pretty, I was pretty much numb from the chest on down. Um, left side almost a hundred percent, and my right side was maybe 80%. [00:30:49] And, um, uh, finally got in for the M mri. And while I was in doing the lumbar puncture, which came after the MRI, the neurologist called my wife, who's at the hospital with me and said, actually it was the hospital, another hospital called my wife and said, we have a room for you on our neurological floor. So they looked at the, uh, MRI at that point and they had a lesion pretty much the whole length of my cervical spine. [00:31:13] And, um, but I, I remember going to the hospital and, uh, sitting up on the edge of the bed and, and the floor neurologist was talking to me and she said something like, you'll be with us for, you know, two, three weeks and then you'll be inpatient therapy for another two to three weeks and, and then outpatient therapy for six months or whatever. [00:31:31] I don't remember the exact timelines, but I thought you're just, this is crazy talk. You know, I have MS start the steroids , and my toes will start to wiggle again, and I'll get all my feeling back and things will be fine. And, uh, they started the steroids and that didn't happen. Um, it was, uh, while I was inpatient therapy that the final diagnosis came with, um, aquaporin-4 uh, NMOSD. [00:31:54] Uh, you know, similar to, to MOG antibody disease detects a different antibody that's doing the damage. Um, I got involved initially with, um, the Guthy Jackson Foundation and then I got connected with SRNA and I really just felt impressed, uh, by the quality of the people that were there and the quality of the material that they provide. [00:32:17] Meghan Beier, PhD (3): Did you know anything about NMO before you were diagnosed? [00:32:20] Doug Kirby: No, [00:32:21] Meghan Beier, PhD (3): So it [00:32:23] Doug Kirby: it was brand new. Brand new. [00:32:24] But it was good to know what I had. I mean, I think you mentioned that, that we all feel better once we know what it is and, um, quite frankly, the, the etiology of of NMO is better understood than MS. And so that was positive for me. And the fact that I, I watched my brother kind of decline with MS. [00:32:47] You know, if I can keep a, a relapse from happening, then I'm not going to decline. [00:32:53] And so, you know, that's where I spend my time is try not to have a relapse. [00:32:57] Meghan Beier, PhD (3): and so can you tell me also your emotional reaction either when some of those first symptoms started and then when you finally got the diagnosis? [00:33:06] Doug Kirby: So in order to really be honest with you, I have to jump back about 45 years and I'll just let you know, I'm, I'm a person of faith and I had an experience, uh, that I won't go into detail with, but I had an experience that let me know that sometime later in my life. I would have an opportunity to have some significant medical issues and, and some trials. [00:33:28] And so and so for me, this was finally that old friend showing up, you know, so it wasn't. The disease was new to me and I didn't understand it, but I understood that this was my time to, to figure out how to navigate, you know, through, um, um, I in trials and sometimes it's tough, right? I mean, I, I'm sorry, I'm a grown man, but there were a couple times I was laying in, in, in that bed, just tears in my eyes because of the pain that I was feeling or the, the, uh, lack of control that I had over my body because I was I was pretty numb and it took me a long time to find my leg again and to be able to walk and I, I can walk short distances. I use a wheelchair for long distances. [00:34:13] Meghan Beier, PhD (3): Now let's move on to Acute Disseminated Encephalomyelitis or ADEM. Dr. Blackburn shares more about this rare condition. [00:34:22] Dr. Kyle Blackburn: So, so ADEM is a disease that predominantly occurs in children, um, but we rarely see diseases that look like ADEM in adults. And ADEM is often called a post-infectious disease. Um, so it's a disease where somebody reports some sort of infectious symptom and then in the weeks afterward, develops symptoms. [00:34:42] So all patients with ADEM have involvement of the brain. And that can cause people to be confused or sleepy or to have seizures. Patients with ADEM can also have eye eye involvement or optic, uh, optic nerve involvement or spinal cord involvement, but they, um, by definition should have that involvement that causes confusion or, uh, seizures, what we call an encephalopathy, um, within the medical world. [00:35:09] Um, it's often thought of as also as a one-time occurrence, a monophasic to use that term. Uh, people may have one attack and then after the mo, after a few months, they're thought to be, um, out of that window of having a high risk of attack. [00:35:24] Meghan Beier, PhD (3): So you mentioned that uh, ADEM is often found in children. Are any of these others mostly found in children, or are all of them largely found in adults? [00:35:34] Dr. Kyle Blackburn: That's a really great question. So, um, acute flacid myelitis is a disease that, um, commonly occurs in children, um, usually younger children. Um, Similar to ADEM, uh, typically in the child and adolescent years. And then, um, MOGAD also has a higher prevalence in children. [00:35:55] We certainly see a number of adult cases, but, um, specifically children presenting with ADEM can also ha can have MOGAD, um, because that's the, that can be the underlying cause. [00:36:06] Meghan Beier, PhD (3): Dr. Blackburn just mentioned MOGAD or MOG antibody disease. Let's hear him talk a little bit more about this condition and we'll hear from one final community member, Megan, whose daughter lives with this diagnosis. [00:36:20] Dr. Kyle Blackburn: Yeah, so MOG is a kind of the most recent comer to the table, and MOG is somewhat similar to NMO in that it can affect anywhere in the central nervous system. So brain, spinal cord or optic nerve. It. The risk of relapse is not as high as patients that have NMO. Um, again, it's another blood test. We test this antibody in the blood and it helps us define this disease. [00:36:46] A significant proportion of people, like I said, will have a monophasic course. They may only have one, um, one episode, and that's it in the near future. And there are some that go on to have relapses in short order and need maintenance treatment. [00:36:59] Meghan Beier, PhD (3): Now Megan's story. [00:37:01] Megan Willis Beik: So my 12 year old daughter has MOG antibody disease and her father and I are her primary caretakers. And when we first got her diagnosis, it was. Kind of in incredibly hard cuz there wasn't a whole lot of information out there. And the information you did find kind of took you down these very scary rabbit holes. [00:37:23] Meghan Beier, PhD (3): How long was your daughter having symptoms before she was diagnosed? [00:37:27] Megan Willis Beik: Um, so she didn't really show any symptoms until she had a full-blown attack. Um, so her symptoms are, she pretty much struggles with optic neuritis, so she went from having. Some, you know, she was rubbing her eye and was kind of complaining that it like itched or burned or hurt. And so we thought allergies or pink eye. [00:37:51] And then the next morning she woke up fully blind. So . Yes. So then we rushed her to the emergency room and they transferred us to the children's hospital. And it was about six weeks later after they had done a bunch of testing that we found out that she had MOG antibody disease. [00:38:09] Meghan Beier, PhD (3): And can you share a little bit about what kind of symptoms have persisted since she was diagnosed? [00:38:16] Megan Willis Beik: Yeah, so she's had three full-blown attacks. Um, she's only ever had optic neuritis. now we're kind of struggling with, she is a preteen. She is hormonal. She is growing and having pain in her legs and her arms, and sometimes it's one leg, sometimes it's both legs. And trying to figure out, okay, this is, is this a new symptom or is this normal preteen, you know, growing in changes. But far the only ones that we know of are her three attacks of optic neuritis. [00:38:54] Meghan Beier, PhD (3): Okay. can you tell me a little bit about, uh, your, your emotional reaction, both you and your husband's emotional reaction when you got the diagnosis? And also how did she react to it when she was diagnosed? [00:39:08] Megan Willis Beik: So when she was first diagnosed, my husband and I were just kind of like, What, like what is that? And because MOG is relatively newer, newer, I mean, she was diagnosed in 2020 and at the time we were told that it is MOG antibody disease. We don't know if this is its own thing or if this is a precursor to MS. [00:39:33] And then within six months then it was like, nope, MOG is its own thing. It's not MS related. And so, . It's just been a lot of uncertainty and a lot of what is going on as more and more information about it comes out. Um, Mia's kind of initial reaction shockingly was like, Hey, now I know. mean, she was very cool, calm, collected about it. [00:40:02] Still is. It's amazing. I'm the one who's like constantly falling apart and I mean, she does too in, in. Instances, you know, when she gets overheated, she starts, you know, having eye pain. If she goes too hard, you know, she just can't run around and be a kid, and that is what frustrates her. But like 90% of the time, normal day to day, she's, she's pretty good about it. [00:40:29] Meghan Beier, PhD (3): Now that we've learned about the conditions that fall under the umbrella of rare neuro auto immune disorders. Dr. Blackburn shares both unique features and symptoms that are common to all, or most, of the diagnoses we've discussed. [00:40:43] Dr. Kyle Blackburn: Yeah. So I'll talk a little bit about, um, kind of the relapse risks and where these diseases affect. So, multiple sclerosis is a disease that, um, like NMO or MOGAD can affect anywhere in the nervous system and tends to relapse. So it tends to occur multiple points in someone's life, and we do treatments to try to prevent that from happening. [00:41:04] Diseases like acute flaccid myelitis. And transverse myelitis and ADEM, optic neuritis, they, they often are thought of as something that will occur once. So after we've, and that's why we really enforce doing that rule out of all causes, because in those patients, we wanna make sure that our relapse isn't in the future. [00:41:22] And once we've ruled all those out, um, we think that, , we've ruled out all the common relapsing diseases and think that their risk of relapse is low. So for most of, so for like AFM and transverse myelitis and optic neuritis patients, um, we think that their risk of recurrence is very low in the near future. [00:41:40] That's very distinct from patients with MOG antibody disease where. They may have a risk of future relapses. We have to follow them to see and, and certainly patients that have an NMO label, were certainly on very high alert that they could have a relapse in the future. Um, when you see the word like diseases like AFM and transverse myelitis are restricted to the spinal cord. [00:42:02] That's another way of parsing it out. Uh, optic neuritis by definition is just in the, um, optic nerve. But then the other diseases we talked about, ADEM, MOGAD and NMOSD, they, those are all, um, those are diseases that can affect anywhere in the central nervous system. [00:42:19] Meghan Beier, PhD (3): Patients often find the diagnostic process to be long, frustrating, and it can bring up a lot of questions and frustrations. [00:42:27] Let's learn from Dr. Blackburn, why this process can be so long or challenging. [00:42:32] How are each of these conditions diagnosed? [00:42:35] Is it easy, is it difficult? Does it take a long time? [00:42:39] Dr. Kyle Blackburn: Whenever I talk about this, I, I always enforce that we tend to present these things as kind of step-by-step guides. What do next, um, once you've reached this step. But this is really a dynamic process. You can think of it as a feedback loop, making a diagnosis. You have to get one set of testing and that informs the next steps. [00:42:58] Um, but in general, I will lay this out as step by step. Um, so most of these diseases are going to present with symptoms that are, that progress rather rapidly. Um, most of them will reach their kind. The peak of the worsening, what we call the nadir, within a couple of days to a few weeks. So it's a rather rapid change in someone's function. [00:43:19] Once somebody recognizes that's all going on, once a clinician sees that the next logical step is often to do some imaging, um, because we are trying to see is this something that. Common, like for example, compression of the spinal cord, um, or is there a tumor? Is there a stroke? It really, we keep the list of possibilities broad in, in an effort to try to avoid missing something. [00:43:45] Once the imaging is returned and we see, well, there's no stroke, there's no tumors, there's nothing compressing the cord. But we can often see abnormalities that lead someone to think this is, there's something, some sort of inflammation there. . And then the next step there would be to do some sort of testing, um, which can involve a series of blood tests or as many of our patients have experienced, what we call a lumbar puncture to test spinal fluid. [00:44:09] Um, and those can provide further information. They can, they can be general tests that say, Yes, there's some inflammation there. Like seeing a, an elevated white blood cell count in the spinal fluid says that there's a lot of inflammation in the spinal fluid. They can also be very targeted. They can be like finding an N M O antibody or a MOG antibody and, and that oftentimes informs, um, the treatment. [00:44:30] But really, um, though we have some of these tests that are highly specific, it's, it's. Up to the doctors to kind of look at the list, to look at all the data, to look at what symptoms somebody's having, what the imaging shows, what the blood work is showing, and look at. Take all those factors in to kind of hone in on what diagnosis they think. [00:44:51] And like I said, this is a feedback loop Very early on, somebody may be presenting with spinal cord inflammation and we, um, say this is quote unquote transverse myelitis. And that's the label that's applied for that moment. Um, but then down the road that Aquaporin four antibody comes back positive and we wind up saying, well, this is a very specific type. [00:45:12] Of transverse myelitis. There are a very specific type of inflammation in the spinal cord called NMO, and there there's a certain risk to this and we need to treat this in a different. , um, or our workup may come back negative. And we say that we've done ruled out all possibilities. This looks like an idiopathic disorder. [00:45:30] Um, this process, as you can already tell, this process can take some time. Um, and it can take several weeks for someone to actually get an accurate diagnosis. So, and that can be very frustrating for, for the clinicians and for the patients to have. Um, or to have their diagnosis change and feel like they were misdiagnosed. [00:45:49] Um, sometimes that takes experts that, um, really focus on these rare diseases, looking at all the data to make that diagnosis, but sometimes a specific blood test leads to that change. So, uh, you know, I emphasize this is something that can be very frustrating and it can feel, it can be very draining for people having to go to several doctors, sometimes repeat tests because the workup was incomplete. [00:46:12] Um, but these diseases are, are statistically rare. So clinicians that are in emergency rooms and general practitioners are really trying to first make sure that they're not dealing with something more common like compression or a stroke. And, um, this may be one of the only times they encounter a rare neuro autoimmune disorder. [00:46:32] It's. Sometimes very challenging from the patient perspective, um, going through this workup because we start with these common things because statistically that's what's likely to happen. And then we kind of whittle down to these rare things. And, and while that is understandable, based upon the, the rare nature of these diseases, it's also very frustrating when you're going through it. [00:46:52] Meghan Beier, PhD (3): As we're nearing the end of the episode, we go into a discussion about treatment options. Dr. Blackburn describes the general approaches to medication and interventions, as well as the distress that can come along with deciding on what intervention to do. For example, distress may arise from tolerance for disease progression. Versus potential side effects. [00:47:15] what are the types of treatments that, um, you're looking at for these disorders and, um, how do you maybe address or think about risk tolerance? [00:47:24] Dr. Kyle Blackburn: Sure. So the first part, um, I kind of lump the, and, and we're talking about treatments to suppress inflammation. At this moment, I kind of lump them into the kind of the acute treatments and the maintenance treatments. So, um, for all of the disorders we're talking about today, there's often a role for an acute treatment. [00:47:42] So, These are the disease, the treatments that are aimed. Um, when somebody's presenting with an acute episode, their symptoms are progressing rapidly. We wanna put that inflammation out rapidly. Um, and we call those acute treatments or first line treatments, and those are steroids, IVIG and plasmapheresis or plex, and you'll hear. [00:48:05] People talk about those, um, if they've gone through treatment, sometimes these are in the hospital, sometimes they're, they're at home or in an infusion center. Um, but they often require closer monitoring, um, to administer. I, these are the treatments that I like to say, put the fire out. They rapidly try to quiet the immune system down, calm things down, and, um, give us time to do our workup and give people a chance to recover and, and remove that inflammation that's, that's causing the symptoms. [00:48:34] For some diseases like NMO and some patients with MOGAD, um, they need a treatment to keep repeated attacks from happening because there's a risk of, of a further occurrence. And those are what we call kind of maintenance immunotherapy. Uh, kind of think about that as keeping the fire put out, kind of fireproofing the house in a way, making sure you've really addressed, um, the, the source of the problem. [00:48:57] So, so targeting the nervous system in some way to prevent an attack from occurring. And some of those. Suppressive therapies are actually killing off portions of the nervous system. And, and some of them just alter the way the nervous system works. Um, there are a myriad of these therapies available and it's, the list is ever growing. [00:49:16] And while that is good, it gives, um, options for all levels of tolerance. It can be a very daunting decision for an individual to make. I do often sit down with people and try to get a gauge of what kind of treatments they'll tolerate. So for example, um, a lot of some therapies are oral. They can take them at home as a pill. [00:49:35] Some of them are require injections you'd have that you'd have to administer to yourself. Um, some of them are infusions and you have to travel to an infusion center, um, to get those infused. And they all have different, Benefits and risks, but that route of administration can be very important. Um, some people feel with cognitive deficits, for example, feel they may have trouble keeping up with a daily pill and may something different. [00:50:01] Some people re um, Really have an aversion to, to needles. So they injecting themselves would just be untenable and they, they could not have fathom that even if that were quote unquote the best treatment. So whenever we're talking about treatments, I, that's the, I think a very important part of this is gauging what route of administration are we going through. [00:50:20] Can are people, do people have a needle phobia or, um, are unable to take a pill regularly or feel that that would be a burden to them? [00:50:27] Meghan Beier, PhD (3): You just heard Dr. Blackburn mentioned needle phobia. This can be a really important area for mental health providers to intervene. [00:50:35] Now back to Dr. Blackburn. [00:50:37] Dr. Kyle Blackburn: So we first try to gauge route of administration. That's what what I typically. and then I'll, I'll provide a series of therapies that I think will meet the needs. Um, and, uh, often for, uh, unlike MS often for these diseases, uh, a, a fairly aggressive treatment plan is what's recommended, uh, if they're having relapses because, um, These diseases can actually cause disability to accrue rather quickly. [00:51:04] Um, so some patients need an immunosuppressive treatment from the onset and, and we'll kind of have a more nuanced discussion about that. But of course, I always like to say, n no treatment is going to work if somebody can't tolerate it or they, they just don't feel comfortable taking it. So, so I really think that factoring in that those preferences is, is critical from the beginning or else your treatment plan's never going to work. [00:51:25] Meghan Beier, PhD (3): Are there any particular things that you think mental health providers should know about these different kinds of either acute or long-term treatments? [00:51:33] Dr. Kyle Blackburn: Yeah, all of the diseases we, we essentially talk about today, most of them are either going to be initiated on steroids, or steroids are gonna be a part of the treatment at some point. And steroids are one of our best treatments at alleviating acute inflammation, but they are also, I like to call them a very dirty drug. They have a lot of off-target effects and they really do affect somebody's mental wellbeing in a variety of ways. Some people get a mild boost in their mood and actually feel that their mood is elevated a bit on steroids, and sometimes that goes too far, uh, in people that have bipolar disorder and it can cause mania or psychosis and, and even in people without a mental health history, this could happen. Um, so we do see people develop psychosis or mania without any other mental health history. Um, the opposite can be true. So steroids also impact your sleep. Um, they can cause weight gain, they can cause other, um, negative impacts on someone's health and that can lead to kind of other changes in mood as well. [00:52:34] Um, and can cause irritability. So steroids can have a wide variety of effects. And so I, you know, our goal when somebody's on steroids is, To try to get them off of steroids as soon as possible because of those effects. [00:52:47] There are other side effects to these medicines. Um, some people can have nausea or, or worsen fatigue, uh, and they already have some baseline fatigue and those can certainly impact mood. [00:52:57] Anxiety about side effects. Um, so some of these drugs do carry labels, uh, with the drugs, like with, with, for viruses activating like PML, which is a, a serious infection of the brain. And, uh, while tho those risks are very low. So I wanna be reassuring to anyone listening with the treatments that we're talking about for NMO or MOGAD, those risks seem to be very low. [00:53:18] But I, I cannot guarantee that they are zero. And some people do find that very anxiety provoking. Um, but I always try to be as reassuring that we can. A and this is one of the reasons that it's important to follow with, um, clinicians going forward whenever you're started on a drug like this, is to monitor for symptoms and to make sure that we're trying to keep you out of harm's way by, by appropriately monitoring lab work and clinical status and things like that. [00:53:43] Um, But there, there are rare risks to these drugs that we use for NMO and MOGAD and others. Um, they aren't quite on the MS level of a drug like Tysabri or, or Natalizumab, but they are there. [00:53:57] Meghan Beier, PhD (3): Are there any other new medications that are currently under investigation that people with these conditions might be talking about with their mental health provider asking neurologists, uh, neurologists about. [00:54:09] Dr. Kyle Blackburn: Oh, there's, there's, this is a rapidly evolving area, so it is, and that's exciting. But again, it can create a little bit of, um, analysis paralysis for patients and even for clinicians and make like we're trying to make the right decision. Um, there are f. There are new therapies being explored specifically for MOG antibody disease. [00:54:27] And, um, this is a disease that was really rapidly classified in the last several years. Um, and now we're starting to see treatment trials come out. So some of the therapies that are used for aquaporin four NMO patients are going to be applied to MOGAD. Um, so p there are trials ongoing for that. Um, there are some new therapies. [00:54:49] Are able to, um, remove antibodies from the nervous or from the immune system rather quickly, so they're able to clear blood levels of antibodies rapidly, um, that are being administered. Uh, they're, they're targeting a molecule called FcRn. Um, so people are starting to, one of those has been approved for a disease called myasthenia, and these are being explored in other diseases as well. [00:55:12] And, and I. Perhaps another area where you'll hear people talk about, um, is, is the idea of doing stem cell transplants. And you'll hear about that in a variety of contexts. So, um, some people are talking about a treatment that is meant to, um, kind of be a more aggressive maintenance treatment where they get a bunch of immunosuppression and then. [00:55:35] Basically try to obliterate their active immune system and then help regenerate their immune system by giving them back stem cells to help their immune system recover. And the idea there is to try and erase any memory that the immune system had for, um, attacking the brain in the spinal or trying to target those immune cells that are causing the problem very aggressively, and then letting the immune system reconstitute. [00:55:58] So that's one way that you hear about stem cells. And then the other way is, is a potential regenerative therapy. Um, the idea of getting stem cells injected or infused or, um, I, I think those are the two most common ways you'd see that. And then having it recover, uh, trying to get recovery of function. [00:56:14] And that is still highly experimental, but people are, Still will ask a lot of questions about it and, um, are still interested in it. So, uh, I, whenever I'm dealing with those questions about that type of stem cell therapy where somebody's wondering can I get stem cells to help me get better, I do try to emphasize that this is a really unproven treatment as of yet a very exciting area. [00:56:38] And, and certainly trials are ongoing for a variety of, of rare, uh, autoimmune diseases. Um, but still very early to say whether what the safety profile. Much less whether actually effect is, is effective. [00:56:51] Meghan Beier, PhD (3): Are there other sort of supplemental treatments that you recommend to help people manage their disease or the symptoms? [00:56:58] Dr. Kyle Blackburn: Sure. So, Like to tell people that. That having a rare neuroimmune disorder, um, dramatically affects their life in many ways. Life looks very different after that, but it, there is still a need for the same healthy habits that every other human being has and that doesn't have a neuroimmune disorder. So, uh, we still have to focus on healthy. [00:57:24] eating habits, healthy, sleeping, um, and we have to also focus on exercise, which we know is important for our general health. In addition to the health of the nervous system, what's good for the nervous system is what's good for the rest of the body is good for the nervous system. So, uh, for many people with rare neuroimmune disorders who have, um, motor deficits that looks like, uh, rehabilitation early on, they're focusing on trying to regain motor function. [00:57:52] And, um, even once that active rehabilitation is, is done, I still think it's very important for people to engage in some sort of activity, um, moving limbs and, and keeping, um, keeping focused on getting heart rate up and, and trying to maintain their health. Um, and I equally along that, I think having mental health providers, uh, along the way can be immensely helpful, especially early on. [00:58:21] This is something that, again, is life altering for many people. Um, it comes with certain anxieties about treatment and, and risks of treatment. Uh, it comes with things that are just changing your life and are, can be very stressful and difficult to navigate. And I think. Engaging with the mental health provider early on can be very helpful in navigating the anxieties, uh, of, of dealing with these bumps in the road. [00:58:45] Um, so I actually encourage a lot of our patients to, to consider that because I think it's, um, only additive even if one, even if it's only one visit and everything seems be well adjusted and going well, um, even then it's still important to see is there a role for an ongoing relationship. [00:59:01] There is always one thing I wanna emphasize while we're on that theme of, of kind of recovery and, and rehabilitation. Um, a lot of people, and I, I think we're starting to see this dispelled, but a lot of people are hearing things like, well, the recovery I get at six months or one year is really the recovery that I'm going to get and. [00:59:21] I, I think that there is a, a window at which recovery is going to be more rapid. I think that that's very clear, but I, I still think, and I think sometimes people think that as discouraging and, and think that that condemns them to the life that they're leading at that moment. But I do encourage people to still do this regular activity and exercise because it does reinforce the nervous system and, um, sends those signals to the nervous system that are, are important to recovery, even if it's slower. So I, we have seen people start to experience recovery or signs of new motor symptoms coming back several years afterwards. So I, I. , I wanna say things can be very slow, but activities are required, part of all, um, healthy living, and I think continuing to do that, I can only, I can have to stress that, that's incredibly important. [01:00:13] Continuing regular activity, it's good for your mood, it's good for keeping things like muscle tightness at bay, and there's the potential that I could help your recovery along the way as well. [01:00:23] Conclusion --- [01:00:23] Meghan Beier, PhD (3): if you would like continuing education credits for listening to this episode, go to: findempathy.com/learn. [01:00:32] Our goal is to help people living with challenging medical conditions find the mental health providers who understand their diagnosis. [01:00:39] Our education, and this podcast, is focused on increasing the number of mental health providers who can help. [01:00:47] If you are a psychologist or a mental health provider that specializes in health populations, please consider signing up on the free Find Empathy directory. Go to findempathy.com and select "Get Listed." [01:00:59] We would love to connect with you on social media. Look for us on Facebook, LinkedIn, Twitter, and Instagram. [01:01:06] Finally, please know that the opinions expressed by the experts today are their own. We are not financially supported by any of the businesses or resources described in today's podcast. [01:01:16] Also remember that the content provided today is for educational purposes only. Please seek the guidance of your doctor or mental health provider for any questions you might have regarding your own health or medical condition. [01:01:30] Thank you so much for listening and we look forward to you joining us in the next episode.