AtPJ Bill Nye

[00:00:00] Host: Welcome to Amplifying the Patient Journey, a series in which we speak with both providers and patients about the clinical journey with a neurologic condition and what recent advances mean for patients, their providers, and caregivers. In this episode, Bill Nye, science communicator, television presenter, and ataxia advocate, shares his experience growing up in a family affected by ataxia, discusses the challenges of individuals living with rare neurologic diseases, and reflects on how he has been impacted by the knowledge of his own risk.

[00:00:43] He is joined by Lauren Moore, MD, Vice President of Research and Chief Scientific Officer of the National Ataxia Foundation, who discusses common barriers to diagnosis, clinical management strategies, and educational resources for neurologists[00:01:00]

[00:01:05] Bill, thank you so much for joining us today. We're really happy to have you here. So to start off with, our listeners are probably familiar with your work in science education and science communication, but could you tell us a bit about your ataxia advocacy work?

[00:01:18] Bill Nye: My family has a condition called spinocerebellar ataxia.

[00:01:24] And ataxia to me is a easy enough word to understand. The Greek word taxi has to do with walking and getting around. So if you have ataxia, you have difficulty walking and getting around. My grandmother had it, my dad had it, my sister is confined pretty much to a wheelchair, and my brother's symptoms are coming on as he gets older.

[00:01:50] So this is where your fine motor skills degrade. You look at my dad's handwriting from when he was a teenager and compare it to when he [00:02:00] was in his 70s and 80s, it's r- it's really striking. As you get older, if you have this condition, your, uh, motor skills degrade.

[00:02:10] Host: When did you first become aware of ataxia? It sounds like it's been in your family, so maybe since childhood?

[00:02:15] Bill Nye: Yeah, since before kindergarten. I mean my dad f- would fall down often and he would drop- dinner plates while he was washing them or whatever. I came home one day and there was an ambulance in the driveway, because he had fallen down the steps carrying laundry and so on.

[00:02:35] And my brother would say, "Well, he was doing something he shouldn't have been doing." But my understanding is when you have this, you don't realize what you, if I may, shouldn't be doing. The thing, in the case of my sister especially, it comes and goes. There's good days and bad days, and this is one of, part of the mystery in my family of cerebellor ataxia, which is not the [00:03:00] same.

[00:03:00] It's related, but it's not the same as Friedreich ataxia, where it's there's something going on in your cerebellum, the small brain, as it's called, at the base of your brain, top of your neck, where your emotional state is connected to your physical skills or physical abilities, and your physical abilities affect your emotional state, and there's this interaction that is not understood.

[00:03:27] But there's been a breakthrough just a couple, three years ago, where people discovered the specific repeat, repeating gene pattern that is associated with our spinocerebellar 27B. It used to be 50, but now people realize it's 27B. And this is, I just marvel all the time, you all. Charles Darwin, Alfred Wallace discovered evolution.

[00:03:59] They did [00:04:00] not know there was DNA, let alone what DNA could possibly do, and now DNA is just part of everybody's everyday vocabulary. I mean, people probably may not know deoxyribonucleic acid, but they know DNA, and they know, they use the expression, "It's in his DNA. It's in her DNA." And, uh, this, in the case of ataxia, it's in your DNA.

[00:04:26] Host: You've spoken a bit about your uncertainty in the past with your own risk. Could you tell us about how you've addressed that uncertainty in terms of seeking answers, and also how you manage any kind of medical anxiety? This might be helpful for our listeners.

[00:04:39] Bill Nye: So first of all, when you grow up in a family with ataxia, every time you lose your balance, every time you lose your grip on a wet glass or whatever the heck it is, you figure, "That's it.

[00:04:53] I'm gonna... I'm, I'm down. I'm going as my, um, I'm gonna have this condition as bad or worse than [00:05:00] my ancestors." All right, so I went to see a neurologist, this is a long time ago in Seattle, and he's, he just was eventually, "Dude, you do not have Friedreich ataxia. Like, just stop it, stop even talking about this."

[00:05:14] Because at that time, Friedreich was the one that any neurologist had heard about. This is 40, 50, 50 years ago. It was the one anybody who worked in the business, uh, was hip to. So I, at that time it was speculated, and reasonably, that you could develop so-called alternative nerve pathways, that as one nerve pathway to, let's say, controlling your fingertips degraded, perhaps other nerve pathways could come into play.

[00:05:55] And I will say anecdotally, I, I remember cutting [00:06:00] my eyebrow, above my eyebrow, the orbit of my eye, playing softball, and it took years for the nerves up there to recover, but they did recover. So anyway, when I was in my 20s, I became just crazy active. I would go ice skating, I would go skiing, I would play ultimate Frisbee, I'd play softball, I was bicycling all over the place, juggling, thinking that I could develop these alternate nerve pathways that would stave off the effects of ataxia.

[00:06:38] But it was always in the back or even the front of my mind. I was pretty sure that I was... The word doomed is a bit of an exaggeration. I was pretty sure I was gonna get it, and my life would be as affected as my dad's was. And so, so it turned out not [00:07:00] to be the case. I don't have enough repeats to have significant symptoms, so I was just, uh, I won't say fooling myself, but chasing a ghost or a, a smokescreen.

[00:07:15] It was not, it was not a real thing. The real thing was discovered three, couple, three years ago, that this, if you have few enough repeats in your DNA, then you will have very few symptoms

[00:07:30] Host: And from your perspective, what are the biggest gaps that are in the area of awareness about ataxia, both in terms of public and, and the medical community? What gaps do people have about this condition? I'm sure a lot of people don't even know about ataxia in public, and in the medical community, um, there are still a lot of things that could be gleaned, but what is your perspective on those gaps?

[00:07:50] Bill Nye: Well, you've, uh, n- nailed it both times. So the public, the public, many people have never heard or are unfamiliar with the word ataxia.[00:08:00]

[00:08:00] But I will say this. With our efforts with the National Ataxia Foundation, Dr. Moore was involved, uh, we have raised awareness. We've raised awareness to the point, people, where I'm watching a dog food commercial and they talk about this dog food will help your dog's ataxia. I mean, everybody ... That d- word would never be used in any commer- Like, just you'd never hear the word ataxia in everyday speech, let alone in freaking dog food.

[00:08:34] So I claim it's not about dog food, it's about raising awareness just of the word ataxia, which as I say, has to do with taxiing, with getting around. And so I claim that's a success. But then in the professional community, in neurologists and so on, it is very easy- To misdiagnose the symptoms, [00:09:00] the symptoms of ataxia are common, especially early on, with multiple sclerosis, with Lou Gehrig's disease.

[00:09:08] It's easy to confuse these symptoms with ataxia symptoms, and the significance of that is you apply the wrong drugs and the wrong physical therapy and the wrong this and that if it's misdiagnosed. Furthermore, the longer something like Friedreich goes on, the harder it is to address. So a claim about two separate different drugs manufactured by two separate different manufacturers is these drugs slow or even stop the progression of, for example, for example, Friedreich ataxia or spinocerebellar ataxia.

[00:09:50] And that, if you are a patient, that is an enormous thing. That's huge, huge. And so you want a proper diagnosis. So to the [00:10:00] medical professionals listening, please look into it. There are resources at the National Ataxia Foundation that will help practitioners figure out what is what. And so there would be a possibility of giving the right molecule, the right drug early on in a patient's course of the condition.

[00:10:21] Host: Thank you so much, Bill. That was really helpful. I think clinicians will really appreciate getting your perspective. Dr. Moore, could you please, uh, introduce yourself and your work?

[00:10:30] Dr. Lauren Moore: Hi, Billy, and thanks again for, uh, inviting me to participate today. My name's Lauren Moore. I'm the Chief Scientific Officer and VP of Research of the National Ataxia Foundation.

[00:10:39] We are the largest, nonprofit representing all forms of ataxia from acquired to genetic. Um, and, uh, I have a background in, uh, neuroscience and in particular ataxias. I did a PhD in neuroscience at the University of Michigan working with Dr. Henry Paulson, who was one of the, the pioneers in the [00:11:00] SCA3 spinocerebellar ataxia type 3 field.

[00:11:02] And during my time in graduate school, I worked in, uh, oligonucleotide-based therapies for, uh, SCA3. And then after finishing my PhD, I moved into industry for a couple of years, continuing in that gene silencing space before joining the foundation. I also, uh, like Bill, share the fact that I, I come from a family that also has spinocerebellar ataxia.

[00:11:25] Host: ...it's interesting how you both have this sort of family history. I wonder, do you think it seems like a lot of people in, in the advocacy and also research space are, are motivated by this, uh, personal experience?

[00:11:35] Dr. Lauren Moore: Very much so. It, it seems just about everyone I meet in the nonprofit space, uh, especially in rare disease, has some connection to a rare disease, whether it be the disease that they're specifically working on or another rare disease, uh- To, you know, no matter what the disease is, people who have rare chronic disorders share a lot of the same, um, issues with understanding, recognition, and, uh, access to, to resources.

[00:11:59] And so [00:12:00] I think many people are motivated to go into this space due to some personal connection to, to rare disease

[00:12:05] Bill Nye: Also, everybody wonders about brains, the nature of consciousness, the nature of athletic prowess or whatever. It's fascinating to everybody. How is it we're able to think? I m- wh- how is that, what is that possible? Who came up with that? And so something that happens to your brain is, I claim, is inherently fascinating

[00:12:30] Host: Yeah, it's kind of like the next frontier of exploration, like, you know, space, the sea, and then the own, our own minds are the new frontier.

[00:12:38] Bill Nye: Do, do, do, do, do, do, do, do.

[00:12:41] Host: Exactly.

[00:12:43] So Dr. Moore, ataxia is often under-recognized or misdiagnosed.

[00:12:46] What are the key clinical signs neurologists should be paying closer attention to?

[00:12:50] Dr. Lauren Moore: Yeah, that's a great question. So when we think of ataxia, we're really thinking of over 100 genetic disorders, and in some cases over 300 disorders, depending [00:13:00] on how you recognize them. When we think of ataxia, we often think of walking, and trouble with gait, and balance, and, and walking being the most prominent symptom.

[00:13:09] But in some cases it's not the most prominent symptom in patients, or it's not the first symptom that appears. In many it can be, uh, difficulties with speech, or eye movements, or tremors, or dystonia. Um, so there are other symptoms that, that can appear first or appear more prominent or problematic to patients.

[00:13:26] Um, I think ataxia is, is even harder to diagnose when we're talking about the late onset ataxias. As we get older, we all have a variety of reasons of why our gait, uh, will be affected. You could have trouble with your hips. Um, you could have vascular disease. You know, there's many different reasons why individuals can have trouble walking.

[00:13:47] And so you really have to nail down, uh, what is the cause of the difficulty with walking. And so asking really deeper questions. People with ataxia, their issues will really show up on rough surfaces. So, you know, when [00:14:00] you, when you fall or when you stumble, is it on, uh, asphalt or is it on grass? Is gravel more difficult?

[00:14:06] So just nailing down where, where that gait difficulty is coming from.

[00:14:10] Bill Nye: My dad always wanted slick-soled shoes. This might surprise many people. You would think intuitively you might think you'd want a good grip, like you'd wanna wear soccer cleats all day. But he, he said you need to be... And my sister said the same thing. You need to be able to slip around a little bit to make quick adjustments.

[00:14:35] Host: Yeah, that kind of makes sense, like the traction could be too much grip.

[00:14:38] You

[00:14:38] Bill Nye: get stuck, yeah. Yeah. I mean, this, and so you wouldn't know that-

[00:14:41] Host: Right

[00:14:42] Bill Nye: unless you interviewed people who have it and/or, or people who study it. And it's, that to me is an exam- I think about it all the time. That's an example of this, oh, wait a minute, that's not the- A good grip shoe is not what you want in the case of certain spinocerebellar [00:15:00] ataxias.

[00:15:00] Host: So where do people most often fall through the cracks in diagnosis and management? And, you know, there's such a heterogeneity of different ataxia conditions, uh, and there's a lack of really clear disease-modifying therapies. So how should clinicians approach management to better address these cracks?

[00:15:19] Dr. Lauren Moore: Yeah, I mean, there's first the difficulty in finding a neurologist or a clinician who recognizes the, the variety of symptoms patients are experiencing as ataxia, so that's the, the first hurdle. And, uh, the, um, patients will still have sometimes five to 10 years, uh, of, of trying to find a diagnosis before finally finding the right physician to get the right answers.

[00:15:44] Um, so I think just the recognition diagnosis is the first step. But then after that, we still hear from many patients that they, they saw a physician, and they said, "I, we know you have ataxia, but there's no reason to undergo genetic testing." Or even after genetic [00:16:00] testing, there's nothing that can be done.

[00:16:01] Um, and, uh, I just want to make it really clear that that is not true. For most of these patients, even getting a diagnosis is a form of treatment. It is a form of therapy. Getting answers, getting reassurance that what they're experiencing is real, and having a name to really understand what's going on with them, um, it allows them to open up to many new opportunities.

[00:16:23] For example, family planning options or finding communities and supports that reflect their issues, you know, finding a support group in their area. So I think one of the things I do wanna to really emphasize is that a diagnosis is, uh, therapeutic and is worth pursuing. And then even after getting a diagnosis, even if there aren't approved therapies, there are many symptomatic therapies out there that can help patients manage their day-to-day life and, and make things easier.

[00:16:51] So whether that's, uh, medications to help with cramping or different ways to handle vision and, and eye movement difficulties, there's, there's lots of things out [00:17:00] there that can really help patients.

[00:17:02] Host: You know, that's a really interesting point, and it's something that I hear across the chronic disease spectrum, including, like, non-neurologic conditions, is that it's so important to have a diagnosis and a name for what you're experiencing. It's, like, the first step, and it's often really beneficial for people.

[00:17:17] Bill Nye: At the Ataxia Conference every year- Dr. Moore and her colleagues organized these birds of a feather meetings. So different people with specific ataxias get together, and it is group therapy, man. When, when people meet each other with the same conditions and share ideas.

[00:17:39] The other day, uh, at this thing, this guy said, "Hey, man, I've solved the eyeglasses problem." He has this one vendor that he's really pleased with. It's the kind of thing that means a lot to people who have the condition. And I, I... Dr. Moore is absolutely right, is just [00:18:00] finding out that you have it and it's not your imagination and so on is just, is, well, it's priceless.

[00:18:07] Dr. Lauren Moore: Yeah. Also, I think it's important to recognize how complex these diseases are. You really need a team of, of people to help handle, uh, these issues, so whether that's OT, PT, mental health care. In many cases you need to get a urologist involved or a cardiologist. So there's, there's many folks that, um, that are, are needed to, to really understand and treat and manage these patients with complex diseases.

[00:18:33] And I also wanted to, to point out that, you know, the complexity of th- these diseases as well as the lack of education, uh, and training for the average, even neurologist in, uh, a- ataxia care and management really means that, that some of these patients would do best by seeing someone who's very specialized in ataxia. And we have launched an Ataxia Centers of Excellence program, uh, designation, uh, and we're, we're up to 43 sites around the [00:19:00] world, um, that are really trained and prepared to treat and care for, uh, individuals with ataxia. So for, for complex cases it may be a good idea to also include, uh, neurologists from, from these movement disorder centers.

[00:19:12] Host: And so on that note, for any clinicians who are listening, how, how might they get more involved in, in ataxia advocacy, either with your organization or just in general if they want to get more involved in education and raising awareness, that sort of activity?

[00:19:27] Bill Nye: Yeah. Well, I mean, I think the, the number one thing first is to get educated about ataxias, and there's a lot of different ways to do that.

[00:19:33] We recognize the, the lack of training even among movement disorder neurologists. I think even at the, the Aspen course, there's, there's only a, you know, a couple hours maybe spent on ataxia, so during that course. Um, and so we decided to launch our own educational program. Uh, it's targeted towards movement disorder fellows, but it's open to any provider working with ataxia patients.

[00:19:55] It's two and a half days of in- intensive, uh, learning, and it overlaps with our patient conference. [00:20:00] So right down the hall is about 500 ataxia patients and their family members, and there's a lot of interaction and, and actual training and, and interactions between the patients and neurologists. So if you're interested in that, that's the National Ataxia Foundation's Ataxia Clinical Training course, or AT- ACT course.

[00:20:17] There's also a ton of resources on the NAF website, so I, I really encourage folks to explore. We have pages dedicated to different genetic forms of ataxia. We have a lot of, uh, resources, uh, for patients, but also for providers. And if you are working in the ataxia space, I encourage you to find out if there's a local support group in your area or local annual fundraisers. They would love to hear from doctors and, and interact and, and engage with their local physicians, so I really encourage you to do that.

[00:20:48] Host: ...... I was watching Bill's videos on, and he has a page on the, on the Ataxia website, and I encourage people to check that out. It seems very helpful. Yeah, and just as a last question to both of you, what gives you hope in the [00:21:00] next 5 years, 10 years in terms of ataxia research advocacy?

[00:21:04] What are you looking forward to?

[00:21:06] Bill Nye: Take it, Dr. Moore. New drugs, new therapies, more discoveries, yeah?

[00:21:10] Dr. Lauren Moore: Yeah. So I mean, the very first drug for any genetic form of ataxia was approved a couple of years ago. And so that really kind of showed that, that it is possible to move the needle and get drugs across the finish line for ataxias.

[00:21:24] There are more clinical trials going on today for ataxia than ever before, and they're really targeting many different aspects of the disease from targeting the genetic mutation through oligonucleotide-based therapies, um, or targeting downstream, uh, impacts of the mutations. So I think we have more modalities, uh, more drug companies investing, as well as a, a road map for how approvals, um, can be made.

[00:21:51] Host: Well, thank you both so much for joining us and for spending time with us today. Um, your insights are super helpful. I think our audience is gonna love this episode, [00:22:00] and, uh, we are really appreciative of your time.

[00:22:02] Bill Nye: Thank you.

[00:22:04] Dr. Lauren Moore: Thank you.

[00:22:07] Host: Thank you to Bill Nye and Dr. Moore for sharing their experience and knowledge in this episode of Amplifying the Patient Journey.

[00:22:14] And thank you, our listeners. Be sure to visit practicalneurology.com for more podcasts in the field of neurology.