Speaker 1 00:00:58 Greetings and thank you for joining disability and progress, where we bring you insights into ideas about and discussions on disability topics. My name is Sam. I'm. The host of this show. Charlene doll is my research team. If you want to join us on email and be on our email list, you can email
[email protected]. Tonight, we have a great guest with us, Dr. David walk. Uh, can you start out by giving us a little bit of history about yourself and how you got into ALS?
Speaker 3 00:01:29 Uh, well, I'm a neurologist, uh, and I first worked in, uh, ALS multidisciplinary care actually during my training as a neurology resident a few decades ago. Uh, and, uh, and there is something particularly, um, rewarding about this sort of work and I've stayed with it.
Speaker 1 00:01:48 Great. Um, I wanna start out also by telling people, by the way, when I look this up, I notice there's several names for it, but, um, give us a definition of what ALS is.
Speaker 3 00:02:05 So, um, there's the, the kind of functional definition, which is a, uh, a disorder, uh, in which there is progressive, uh, weakness, uh, due to problems with nerve cells being able to communicate with muscles. So there's a, uh, predictable progression of muscle weakness beginning in any area of the body and spreading to adjacent areas without substantial, uh, problems in other, in other regards. Um, can I
Speaker 1 00:02:34 Just
Speaker 3 00:02:35 For more medical,
Speaker 1 00:02:36 Um, so
Speaker 3 00:02:37 Definition is motor neuron disease, which is a disease of a particular type of cell.
Speaker 1 00:02:42 So when you say nerve cells and the muscle, are you saying like the nerve cell cells stop like communicating with the muscles?
Speaker 3 00:02:50 Correct. Okay. The nurse cells that communicate with muscles, uh, stop working properly.
Speaker 1 00:02:55 Great. And then it seems, I guess I was unsure of what causes ALS cuz it seems like there could be a lot of different things. It seems like most of the time, um, you just get it, but there's a small percentage that maybe get it from a family or from a parent, correct?
Speaker 3 00:03:16 Yes. Um, you and I, and everybody else unfortunately are unsure of what causes ALS. Mm. But in about 10% of individuals with ALS, we can identify a change in a gene that we know causes a, uh, substantially greater likelihood of getting the disease. And the fact is there are probably other factors, even in those folks that need to trigger the beginning of the condition. Um, but, um, in with most of those mutations or changes in genes, um, it's more likely than not that if somebody lives long enough, they will develop a neurologic disease like ALS and the other 90%. Uh, we do not know what, uh, we know very, very little about what might cause this
Speaker 1 00:04:01 And the percentage did I read like two out of every 100,000, is that right?
Speaker 3 00:04:07 Yeah. The prevalence is actually about a little higher, maybe five to eight per hundred thousand.
Speaker 1 00:04:12 And do you know <affirmative> and do you know, has that changed through time or is it just now that we know what ALS is?
Speaker 3 00:04:21 Yeah, not that we know of. Um, there is, is thankfully probably greater awareness now than there may have been, uh, in the past mm-hmm
Speaker 1 00:04:30 <affirmative> are there different types of ALS?
Speaker 3 00:04:36 Uh, there are, um, and again, kind of depends on which access you wanna evaluate, but there are different types, as you said, in the sense that some there's a clear genetic factor that we know about. And in most there isn't, there are different types in terms of the muscles that are most severely or initially affected, be they in the limbs or the muscles responsible for speech and swallowing, you could consider those different types. Um, there are different types in terms of whether there's predominantly a problem with what we call the upper motor neurons, which results in stiffness and clumsiness mm-hmm <affirmative>, uh, or those in whom there's predominantly a problem in the, what we call the lower motor neurons, in which case there's more weakness. So those are all different types of different types, if you will. Ah, for the most part though, we think that there are some similarities in the way the disease progresses and the things that might contribute to it.
Speaker 1 00:05:33 So if one gets it from a parent, let's say a parent has it, what's the chance their offspring could get it.
Speaker 3 00:05:41 Uh, good question. Uh, so most of the genes that are associated with it, I, I, this and other answers are gonna get a little weedsy. So bear with, I
Speaker 1 00:05:50 Understand
Speaker 3 00:05:50 Bear with me if it, we have time a bit like a medical school lecture, but that's okay. Um, so most of the genes associated with ALS are, uh, dominant genes. What that means is, uh, with every child, there's a 50% chance of that individual inheriting that gene, ah, um, you could have eight children and by chance all eight could inherit it and, or none could, but in terms of the individual chances 50%. Now, if one is inherited that gene, that doesn't mean that we'll get the condition. Um, as I said, it develops sometime in life, in most people, but not everybody. Um, if you live long enough, there's a reasonable likelihood, but simply having a gene doesn't guarantee that you're going to get a disease.
Speaker 1 00:06:32 So if you have the gene, first of all, then is that a 50, 50% chance or is it higher?
Speaker 3 00:06:42 So if you, um, have the gene, right, so you had a 50% chance of inheriting it mm-hmm <affirmative>, let's say you did, um, then whether you get the condition depends a little bit on the gene, but for the most part, these are, um, uh, a high, what we call highly penetrant. What does that mean? That means, again, that if you live long enough, there's a high likelihood that you will get the disease. So for the most common gene associated with ALS, um, there's about a 50% chance of developing a neurologic disease by age, uh, uh, 60, 50 or 60. And then, you know, if you live into your eighties, there's a greater than 90% chance that you will develop, uh, a neurologic disease. And I say that because that particular gene can also cause a type of dementia. Oh. So you can imagine that if you inherited one of those genes, as I said before, if you live long enough, there's a good chance, unfortunately, that you'll develop, uh, a condition associated with it.
Speaker 1 00:07:42 Is there, what gene is, this is the ALS on,
Speaker 3 00:07:46 Right? So again, there are now O over 20 genes that have been identified mm-hmm <affirmative>, but by far, the most common, uh, is called C nine orf 72 or C nine for short. Uh, and that causes, uh, a large, large proportion of the inherited, uh, types of ALS and perhaps as much as seven to 10%, uh, of ALS even in people with no family history, the others are really quite rare.
Speaker 1 00:08:12 And so can you test to see if you've gotten the gene?
Speaker 3 00:08:21 Yes.
Speaker 1 00:08:22 Ah, interesting. And in your line of, in your field now that you can do that, are you finding that people want to know or don't want to know?
Speaker 3 00:08:35 Well, that's a great question. So if, uh, imagine if that you've been diagnosed with ALS mm-hmm <affirmative>, uh, we encourage everybody to find out, to have testing for all of the genes that we can identify mm-hmm <affirmative> because there is research on potential treatments that are specific to certain types of genes. So we would want to know if somebody might be a candidate for that research or, uh, you know, when one of these treatments proves to be beneficial and is approved, it's gonna be imperative that we know, so that even if there's a 10% chance that you might, or a 5% chance, or a 1% chance that you might have that gene, uh, once we have a treatment for that particular gene, um, we would have a treatment for that particular person. So it's gonna be really, really important in terms of people who, um, have no neurologic disease, but have family members with genetic forms of ALS, as you can imagine, that gets a little trickier. Mm. Um, there are individuals who would like to know more in individuals would like to know less, I will say, and I make this point to people that, um, there is emerging evidence that, uh, there are some blood tests that could become abnormal as much as a year or two before a, a person's first symptom.
Speaker 1 00:09:49 Oh.
Speaker 3 00:09:50 So if you think about that, uh, when the day comes that we have a gene specific treatment, uh, we, uh, it will be valuable if people choose this, it'll be valuable for family members to know if they've inherited that gene and then to be monitored with blood tests. And if that blood test starts to rise substantially, uh, then we might be able to say, okay, you feel great, but we have strong evidence that in six months or a year, you're going to begin to develop symptoms of ALS. We have a treatment for your type of ALS. And it seems plausible that it's gonna work best if we start it now. So that's a,
Speaker 1 00:10:30 Feels like almost a paradigm sword
Speaker 3 00:10:33 <laugh> right. Under which we're gonna wanna start, uh, testing certain family members in, in certain circumstances. And there's already a, a study that's, that's doing that for one of the genes, even though, but we don't have a proven treatment for it yet. Yeah.
Speaker 1 00:10:47 So what's the general population that, that has ALS do you think,
Speaker 3 00:10:55 You mean, are there any statistics, particular characteristics that identifies somebody who's at greater risk,
Speaker 1 00:11:00 Right.
Speaker 3 00:11:01 Yeah. Unfortunately we don't even know that very well. Um, I mean, this is part of the problem is we need to understand this better. Um, there have been a lot of, uh, you know, kind of, uh, epidemiologic studies looking into either clusters or potential risk factors. There is an increased incidence of ALS amongst, uh, military veterans, regardless of whether they were deployed regardless of the era. And nobody knows why. And soon as I say that, I wanna emphasize the risk of ALS if you're a veteran is still, of course, quite, quite small, but it's higher than if you're not. And there have been some studies that have suggested there might be certain environmental factors that predispose, but nothing's really been, you know, kind of sufficiently robust for us to kind of look at it very, very carefully, right. So it's, it's, it is something that unfortunately can affect anybody. Um, and we don't have a kind of a, a high risk population to screen.
Speaker 1 00:11:59 Now, I'm curious to know if, um, what, how is one diagnosed? How does that work?
Speaker 3 00:12:08 Right. So, you know, as I said, this is a condition that causes weakness. So a person might first develop, uh, difficulty using an arm or a hand, uh, trouble walking, uh, or difficulty with speech change in voice trouble, swallowing. Those would be common initial symptoms. And as you can imagine, there are so many common things that can cause these, uh, it's typical for an individual to see a primary care provider and then an orthopedist or an ear nose and throat specialist, right. And go through a lot of testing in different directions before they end up with a neurologist. Um, when we see somebody in whom we're concerned about ALS, we look for that characteristic combination that I mentioned before, a combination of a certain type of clumsiness and stiffness in the limbs, uh, with weakness and loss of muscle strength. Um, when we see that, uh, without any other abnormalities, like a lot of numbness or confusion, or, um, other sorts of, you know, organs affected that's when we get concerned about this diagnosis, mm-hmm, <affirmative>, uh, the way we confirm it is with a neurologic examination. So really what you do in the office. Um, and then we'll typically do nerve testing, which is very, very helpful in clarifying what's going on. And then other tests largely to rule out other conditions that could fool us.
Speaker 1 00:13:32 Is there a gender preference?
Speaker 3 00:13:34 It is a bit male predominant about 60% male.
Speaker 1 00:13:39 And what is generally the age range that you see when somebody's affected?
Speaker 3 00:13:47 Right. So, um, that's 60 also. So the, the, the average age of onset is, uh, age 60. Um, but the range is anything from, you know, early adulthood to the nineties. And there are juvenile what are called juveniles in a kind of an archaic medical term, but there are forms, uh, that occasionally can affect teenagers. Uh, generally speaking though, it's anytime in adulthood, but peaking around age 60,
Speaker 1 00:14:15 Well, that's certainly gotta be devastating when it's young. So the, the different types does that affect longevity, what type you have?
Speaker 3 00:14:30 Good question. Uh, so to a degree, um, there's a kind of a rough observation that people who have more of, uh, what we call upper motor neuro on signs and what I'm going to, what I described before is kind of stiffness and, and clumsiness, but less weakness, um, in general, tend to, uh, live longer because, uh, they maintain their breathing strength better. Um, really, huh. In general, people in whom the muscles near the, ah, I see muscle required for breathing, do a little worse or don't live quite as long. I see because really the life limiting aspect of ALS is breathing. Of course, even that's not life limiting because we can support breathing with devices, uh, that can keep a person who's not able to breathe on their own alive, the, the, but unfortunately with ALS, even with that, uh, the weakness progresses.
Speaker 1 00:15:26 Hmm. So let's say you're, you've been diagnosed with ALS is the treatment different if you have been diagnosed early as opposed to later?
Speaker 3 00:15:44 Well, yes and no. Um, so, uh, we have two medications that are currently FDA approved to slow the progression of disability in ALS. And I think it's entirely reasonable for anybody with this diagnosis to strongly consider them. Um, but one for example was, uh, shown to be beneficial in a group of individuals who were early. So an insurance company, for example, might say, well, gee, we're not gonna approve using that medication in this individual because they're farther along. Uh, we tried to, to kind of appeal those and usually win. But that's, that's the one argument where it becomes a bit of an issue. Um, my personal view though, is that everybody with ALS, whether they're in, uh, able to do more or able to, to do less still has some motor neurons or cells at that are working. And if there's anything we can do to try to keep those cells working longer, um, particularly if they're really important to function like cells that are allow you to speak and communicate clearly, you know, right. Uh, I think it's reasonable to do what we can to try to keep somebody on medication that might help.
Speaker 1 00:17:00 And the other thing is I noticed looking at this there's so few medications, it seems well, as you said, there's two. Um, why so few,
Speaker 3 00:17:11 Uh, well, I'll give you my answer. You might get different answers from different people, but
Speaker 1 00:17:15 That seems like what I'm getting too. So go ahead.
Speaker 3 00:17:19 I think a really, really important answer that, uh, is that, um, we don't understand this disease well enough mm-hmm <affirmative>, um, I think that there is a fundamental need for yet more basic investigation until into the problems that cause these cells to become damaged and disappear. Uh, and we know a lot about what's wrong, but we don't know the prime movers. We don't know what, uh, triggers those things that go wrong. So what we do, and I say, we, I mean, people trying to develop treatments for ALS is identify what's going wrong in the cells and come up with, uh, treatments that might improve that. But if you don't know what caused that in the first place, uh, and sometimes we don't even know if those abnormalities are the cause or a consequence, uh, or repair mechanism. Mm-hmm, <affirmative>, it's very hard to kind of guess, right when you're developing drugs, uh, as hard as, as people try.
Speaker 3 00:18:17 So I think a big part of it is that it's just been a tough nut to crack and from a basic science perspective. And that in turn is due, I think to the fact that understanding, uh, neurology, neuroscience and brain disease is something we're only beginning to get the right tools for now. The other argument that's been coly made is that, um, less common diseases, uh, historically have had less support in terms of research funding. Uh, and, uh, that's a, a pretty important point. Um, and I think that, uh, while this is not a very, uh, this is not extraordinarily common disease like diabetes or coronary artery disease,
Speaker 1 00:18:58 Right?
Speaker 3 00:18:59 We, we need fixes and I think research into ALS ataxia Alzheimer's Parkinson's and a wide range of, of these brain disorders, uh, all help each other. We learn more about each disease as we learn more about all of them, or I guess vice versa. So that's one of the many arguments in favor of trying to get, um, more help in figuring out ALS
Speaker 1 00:19:24 It's always distressing talking about life expectancy, but anybody out there who has been diagnosed with ALS or has a family member, they understand. So when I read the life expectancy on there, it said two to four years, is this with medication without medication?
Speaker 3 00:19:43 Um, so that is, uh, regardless of medication, the benefits of the medications we can talk about. Um, they are, um, not nothing but not as good as we need. Mm. Um, I also think it's important to emphasize that that is a, uh, you know, of course that's an average, uh, and the range is quite broad. Uh, so anything from less to a year, less than a year to decades. Um, so that number, um, only applies to, uh, you know, the, the kind of middle part of that broad range.
Speaker 1 00:20:22 I wonder if, um, there's anything out there that says diet and exercise can extend life expectancy with this?
Speaker 3 00:20:33 Uh, well, thats certainly been looked at, uh, we have, uh, reason to expect that if we can maintain weight, uh, that may have a progno positive prognostic, uh, benefit mm-hmm <affirmative>, uh, rapid weight loss, uh, tends to be associated with shorter survival, specific dietary, uh, you know, uh, supplements. Um, you can imagine great many have been, have been tried. Oh yes. And there's anecdotal, you know, conversations about, uh, all kinds of things, but not strong evidence in favor of anything in particular, in terms of exercise. What we encourage people to do is to try to stay as active as they can, uh, you know, do things that they can do safely, comfortably, and without exhausting themselves. Um, there is not evidence that, you know, weightlifting body building or trying to make muscles larger will help. If anything, one could imagine that might be detrimental. There is some evidence that in a wide variety of nerve and muscle disorders, moderate exercise, aerobic exercise, any sort of lifting that you could do, you know, multiple reps comfortably may have some degree of benefit.
Speaker 1 00:21:52 So I always think about when I think of ALS, um, Steven Hawking <laugh> yeah. Who lived an amazing amount of time. Does anyone say, explain that <laugh>
Speaker 3 00:22:09 <laugh> yeah, I do hear that sometimes. And I, when I've asked, I ask that I remind people that I'm, I wasn't his doctor <laugh>. Um, so, um, I have limited insight into his circumstances, but I will say again, going back to a few points, um, I've, I've had the opportunity to, uh, you know, work with, see people living with ALS for decades. So that is not at all unheard of, although, um, yes, it's not the norm it's, it's, it's, um, less common. And you'll also recall that for many, many years, Steven Hawking, uh, was using a ventilator mm-hmm <affirmative>. So, as I said earlier, uh, we can't the, the life, the, the literally life limiting aspect of ALS is the loss of the ability to breathe independently. Mm-hmm <affirmative> um, so using a ventilator, either noninvasive, which is basically something that blows air into the lungs, through the nose mouth, or both, or invasive, like he had, um, a ventilator will keep somebody alive, even if they're not able to breathe independently. Um, that's a decision that obviously he made, he decided to go, go ahead with that. A lot of people choose not to do what he did. Right. Because it is a difficult, uh, way to live. Um, but that's part of the reason he lived so long
Speaker 1 00:23:28 Is the brain the last to go in a sense, as far as thinking attributes and things like that. Reasoning.
Speaker 3 00:23:35 Yeah. Important question. Right. So cl clearly with Steven Hawking, um, thinking, uh, was pretty darn good, wasn't it? Um, all along, um, it's been shown that in about 40 to 50% of people living with ALS, there are demonstrable, but probably mild changes in cognition and behavior. Um, so these are, you know, uh, thinking things that are a little different for the most part than the kind of parts of the brain that are affected, uh, prior, predominantly in Alzheimer's, for example, mm-hmm, <affirmative>, you know, short term memory, not as affected, but other, uh, cognitive tasks and, and in some individuals, behavior can be affected. That said, I said, 40 to 50% have demonstrable changes in those functions. That's demonstrable on testing. The vast majority of those people don't have significant difficulties in their daily life. There's a small proportion of people who do develop, uh, dementia, you know, functionally important loss of, uh, cognitive function or behavioral changes. And that of course is also devastating, um, right. For most people that does not develop,
Speaker 1 00:24:51 I guess this feels like such a depressing topic. And, and I'm sure it's very sad. So, um, I've known only one person in my lifetime who has had ALS and he just kind of made his announcement and disappeared. My guess is that he went pretty quickly. So are there ideas of, I mean, are there other medications coming down the, the pike here?
Speaker 3 00:25:22 Yes, we certainly hope so. Um, there are numerous clinical trials, uh, from phase one, meaning just looking at kind of the basic right. Tolerability and safety of a, of a potential treatment to, uh, phase three, meaning large studies designed to convince the FDA of efficacy. Uh, there is a drug that the FDA hopefully will give us an answer on soon. Um, and that, uh, that was just approved, uh, for use in Canada. There are others that are, um, promising, but the problem is until we know, you know, we don't know until we know, uh, and as I've often said, this is, it's not like building a building where, you know, when you're gonna, you know, finish the foundation and when you're gonna finish the first floor and the 10th floor, and, you know, when it's gonna be open for business, this is, um, an kind of, uh, uh, efforts on numerous fronts to try a wide variety of things while doing basic research and hoping that one, two or 20 great ideas hit all at once like yesterday, but we just don't know when that's really going to happen.
Speaker 1 00:26:32 So let's talk about the research part. Um, when one is diagnosed, they come into your office and you diagnose them, presumably, are they automatically offered the idea to get into research or is there hoops they have to jump through? Can they get in, in all phases of their ALS? How does that work?
Speaker 3 00:26:56 All great questions. Yeah. So, um, in our first PRI our first responsibility is to provide the best care we can. Mm-hmm <affirmative>. Um, and so that has to be the focus, but at the same time, a conversation about research is part of the conversation about, uh, the diagnosis. So it come, it's something to discuss at the very beginning. Um, there is, I'm gonna kind of provide more bullet points, um, if I may. Sure. So there's of course, observational research, which is, uh, trying to learn more about this condition. So we can come up with better ways of finding treatments. Mm-hmm <affirmative> um, and of course there's interventional research, which is what we were talking about clinical trials, right. Uh, so both of those types of research exist and we discuss with, with individuals when making this diagnosis, uh, in terms of clinical trials that is getting involved in research, we're, we're testing a potential treatment.
Speaker 3 00:27:51 Uh, yes, that is an important thing to talk about, uh, you know, right off the bat and, uh, different trials have different criteria for participation. Um, so it can be the case that even at the time of diagnosis, uh, somebody might be, be a candidate for one trial, but not another. Ah, um, uh, so there are, there's a little bit of a, kind of a, of a, um, uh, of an issue with that because on the one hand, um, it happens for, you know, reasons that, uh, again, uh, are a little bit in the weeds. Mm-hmm <affirmative> that if you're studying the effect of something, having a kind of a homogeneous population of people with very similar type of disease, very similar symptoms, very similar to point in the process, uh, similar rates of progression, um, a very kind of narrow inclusion might give you a better chance of showing that something works on the other hand, if you do that, then you don't know if it works or helps other people.
Speaker 3 00:28:58 So if you make it too broad, you might have less chance of showing benefit. If you make it too narrow, you don't have generalizability. Um, and at the same time, as I think you're implying, they're an awful lot of people who are very anxious to help us find better treatments and want to participate. And it's quite disappointing to those individuals who I say, well, yeah, we're doing this study. We'd love it if you could participate, but unfortunately you can't. So that's a, that's a tough conversation too, for people who want so much to be able to contribute,
Speaker 1 00:29:27 Right. What would be some of the reasons they can't?
Speaker 3 00:29:34 Um,
Speaker 3 00:29:36 Most studies do have a, a certain limits in terms of, for example, breathing function, duration of symptoms, uh, or time since diagnosis, um, and, uh, severity of weakness. Um, some will be looking for a particular gene, as I said before, there's some treatments that are designed, uh, only, you know, specifically to attack a particular genetic form. So you can imagine that if you don't have the genetic form, there's no reason for you to participate. Um, others might be looking for particular rate of progression. Um, so again, um, I can think of one, that's a, for a genetic form of ALS where they're saying, we want to see if we can slow down the, the fastest, most devastating or most rapidly devastating, uh, uh, you know, forms. So those are some examples of how those criteria might narrow who is, and is not a candidate.
Speaker 1 00:30:39 I know this is not a necessarily guarantee, but I presume that, would I be correct in presuming that if a parent has ALS that you might catch it earlier in the offspring, rather than just you or me that would come in and maybe would wait thinking this is something else?
Speaker 3 00:31:01 Uh, yes, that's an excellent point. Um, people will come in and say, my father had this, I've developed weakness in my hand. I know what's happening.
Speaker 1 00:31:11 Mm yes. So I'm familiar with CRISPR.
Speaker 3 00:31:16 Yeah.
Speaker 1 00:31:17 Gene editing, right?
Speaker 3 00:31:19 Yeah.
Speaker 1 00:31:20 Are they trying any of that with ALS?
Speaker 3 00:31:24 Yes. Um, there is, there are efforts using CRISPR and other approaches, uh, both in terms of treatments, but also in terms of, um, research techniques, um, you know, editing, uh, genes in, um, models of ALS to try to use that as a, as a way of determining, you know, what changes in genes might, might be effective.
Speaker 1 00:31:48 Can you give our listeners a brief definition of CRISPR for those who are going, huh? Yeah.
Speaker 3 00:31:54 <laugh> well, yeah, it's a, it is a technique for, as you said, basically, gene editing for making kind of fine, mm-hmm, <affirmative> targeted cuts, uh, in, uh, DNA. Uh, and one can then, uh, replace or remove certain areas of a gene that might be, um, dysfunctional. The other approach that's been, there are several approaches of managing or treating genetic, um, disorders, including trials in ALS, but another one, uh, is a, what's called an asso or antisense Oli nucleotide, in which you introduce, uh, a piece of genetic material that kind of blocks an area you're trying to, to downregulate. So there are, uh, those are two examples of ways to, uh, try to affect the genetics of a disease. And a third is to introduce genetic material, uh, using a viral vector, which basically, uh, you know, takes the takes advantage of the fact that viruses are designed to get into cells and mess up our, uh, our genetic material. So they take a modified virus. That's not gonna cause a viral disease, um, and introduce, um, mat genetic material that could change, uh, the, the, the, the gene responsible for a condition. So there are lots of emerging techniques to address genetic conditions, including genetic forms of ALS mm-hmm <affirmative>. And in fact, some of these things could be used in conditions. We don't typically think of as genetic, but we might expect a certain gene, um, modification to have a benefit.
Speaker 1 00:33:32 So I, I didn't ask this before, but I'm presuming that it's very possible that the few medications you have to, to make things better for people who have ALS may become with some side effects. Um, is that true? And if so, then how do you differentiate between the side effects of the medication and the disease or the disease?
Speaker 3 00:33:58 Yeah. Uh, exactly great question. So, as it happens, the approved medications, um, are generally well tolerated. Uh, that's a cautious phrase because, uh, we all know people who have had problems, uh, with certain of these medications, but in terms of dangerous side effect, side effects, they're extremely limited. Um, so we're fortunate in that regard, but, um, obviously we need much more effective medications, and I think most people living with ALS would be happy to try a medication that's 10 times more effective, even if it's three times more risky, um, differentiating side effects, also an important question because, uh, obviously a side effect on blood cells or a cardiogram, for example, um, wouldn't be due to ALS because ALS doesn't affect those, those things. But, uh, what if a medication might cause fatigue? Uh, well, it's awfully hard to differentiate whether it's an effect of the medication versus the effect of the disease, if it's a disease that causes fatigue. Right. Right.
Speaker 3 00:35:03 In, in, in clinical practice, what I do is I say, okay, uh, you feel more fatigued since we started this drug, let's stop it for two weeks. Um, if you feel better, it must have been the drug. Um, and then you have the option of starting it back up at a lower dose and introducing it more slowly or stopping it for good. If on the other hand, you still feel fatigued after you've off of it for a few weeks, then we've gotta find another reason for the fatigue. Right. So that's, that's obviously the kind of practical way of addressing it. Um, in clinical practice,
Speaker 1 00:35:34 It feels like it would be such a difficult thing since this, you have such a short time window to work within
Speaker 3 00:35:42 Well, right. We're trying to make that time window longer.
Speaker 1 00:35:44 Yeah. Um, can you talk about how you provide care for the family? The person that I knew who got ALS? I didn't know him well, but I knew he had children still at home and that I can only imagine was quite devastating to the family. So when one comes in and is diagnosed, what do you do? And what is your role as far as dealing with the rest of the family and what you suggest for them?
Speaker 3 00:36:20 Uh, so ALS like any serious and disabling condition affects a whole family and sometimes a whole community as you're, as you're pointing out. So that's a, that's a, a very important question. Uh, it's important that first of all, we'll talk about spouses and caregivers. It's important that they are able to care for themselves as well as possible, both physically and emotionally. Um, and those are conversations that are had. Um, and we certainly encourage people to, to, um, to do those, those things second, um, it's obviously important to provide as much assistance as possible. Um, and I've got a particular annoyance of the reality that in our, certainly in our, in this country, um, we seem to be able to get, um, support for a drug that would cost a hundred thousand dollars a year. And yet, um, we can't seem to get support for a caregiver, uh, that would cost far less than that, and would be in some cases more important.
Speaker 1 00:37:35 One does one,
Speaker 3 00:37:35 And it's also very hard to find individuals who are able to help, uh, people living with ALS in their families or people with any other serious, devastating condition that requires more help in the home. So I think that's something, uh, that has to happen. And again, I'm gonna editorialize a little bit here, but I think part of that problem is that people who provide those kinds of services, um, need to be, um, uh, uh, paid better. I think those, uh, careers need to be recognized as, uh, careers and professions that require tremendous skills. Um, I think we need to kind of change our view of, of how we support the people who provide the support, um, in this country. So that said, um, there are a few things that can be done, certainly the ALS association, which you referenced earlier, mm-hmm, <affirmative>, um, thanks to, uh, a generous gift from a family.
Speaker 3 00:38:29 Um, in, at least in our region can provide some respite care, meaning some, uh, time for, uh, you know, some help or just, uh, support while family members can, uh, get out of the home and do some things that they might need to do. Um, but those are without question, those are challenges. Um, and that's just one level of what you were asking about. Um, there are other levels. So for example, you mentioned children, mm-hmm <affirmative>, um, it's, uh, you know, one can imagine the difficulty of the conversation, uh, when, uh, an adult diagnosed with ALS, uh, has to have some conversations with young children about what's happening, you know, um, so those are, those are all very tough and we try to provide as much kind of support assistance and, um, uh, counseling as we can as to how best to address those things.
Speaker 3 00:39:28 Obviously, I shouldn't say obviously it is the case that all certified ALS treatment centers do, uh, have a social worker available to talk, uh, with families and the ALS association, um, has, and the muscular distribu association for years supported support groups, um, in our support group in years past, we would often take a two hour session and split it up, uh, the first hour for the whole group. And the second hour, the people living with ALS would go on one room and their caregivers would go in the other to give people an opportunity to kind of talk, uh, frankly, about how this was affecting them. Mm-hmm <affirmative>, um, you know, on either side of that, of that divide
Speaker 1 00:40:11 And I, I, yeah. Does every state have an ALS association?
Speaker 3 00:40:20 Yeah, so it is a national organization, um, and, uh, it's going through a restructuring, but that's kind of, uh, that that's not relevant to this conversation. It, uh, provides services throughout the country. Um, and, uh, I think our, I, I will say again a little bit of a shout out, but, um, our local organization is recognized, um, nationally as one of the best in the country. We just have tremendous support. Um, and, and we're fortunate in that regard.
Speaker 1 00:40:50 So you personally, as a neurologist, I mean, I'm sure this is a difficult thing. If somebody who thinks they have a pretty good idea that they may get the ALS because of a parent, but would you strongly suggest that they are tested or, um, early, and I don't know how often you test, how do you do that?
Speaker 3 00:41:15 Right. So again, um, historically we haven't encouraged testing simply because of an affected family member. Um, as we approach an era in which we might be able to, um, treat certain genetic forms, as I said earlier, I'm moving towards encouraging people who happen to know that, uh, that, that it clearly runs in their family. Let's say they have two or three affected relatives, um, at least to be aware, uh, that, uh, we hope there will come a time when we have a treatment and can evaluate them in advance. Now there's no guideline yet on, uh, how that will happen. But one could imagine, for example, again, these are not guidelines. We're not, this is not standard of practice yet, but one could imagine based upon the data that are emerging, that, uh, the blood test I was mentioning could be done, you know, annually or so mm-hmm, <affirmative> in somebody who is known to be at risk because of, uh, their genetic testing and their family member's, uh, history. And that way, again, our hope might be that we could treat some people earlier, but, uh, until that happens or if somebody doesn't know their family history, or if there's only one affected family member, um, I think it's important to remember that a single affected family member, particularly in a large family is not an indication of a genetic form of ALS.
Speaker 1 00:42:36 Gotcha. So if you are doing the blood, a blood test, tell me again what that blood test test for. I mean, there's something it, it knows test for that says, U have ALS
Speaker 3 00:42:51 There is no test that proves that a person has ALS, um, although there are some things that have been, uh, kind of designed in spinal fluid that might be helpful in clarifying the diagnosis and distinguishing it from similar conditions. Um, but additions. Um, but, um, what I was referring to is something called neurofilament light, which is emerging as a blood test. That's valuable in identifying the fact that, um, cells of the central nervous system are being damaged almost regardless of the cause. So that can go up in Parkinson's disease and stroke and Alzheimer's disease in a wide variety of conditions. Right? So the, the particular utility that I'm referring to is somebody who knows based upon their genetics and their family history, that they are at risk of developing ALS, uh, the time might come when using that particular test will tell us that they're starting to have some problems even before they develop symptoms. Does that make sense?
Speaker 1 00:43:47 Yes. So are you, do you give lectures as well at the, or are you generally diagnosing
Speaker 3 00:43:59 <laugh>? Yeah, so all faculty, um, all, all of the academic faculty at mHealth Fairview are also, um, you know, uh, educators. Uh, so yes, I have the opportunity to, to, to teach.
Speaker 1 00:44:12 I often let my research person who helps me, um, unmute and ask a question. So Charlene, get ready to do so if you have a question, but I wanted to ask you, um, if there were anything else we should know about with ALS,
Speaker 3 00:44:32 I think you've asked some phenomenal questions and it's, um, uh, I, I would also, you know, again, reemphasize, uh, we talked a lot about genetics. I wanna make it very clear that having a single family member with ALS does not mean that one has a genetic form of ALS or is a high risk for that. So again, the genetic forms are generally identified with multiple family members who are effective. I wanna make that clear list. Um, we give the wrong impression. Gotcha. Um, I wanna make it clear to people that, um, work is being done and it may be, um, it may unfortunately be incremental, incremental. It may not be, uh, you know, the polio vaccine. It might be that we gradually, um, I wish we could do it immediately with one treatment, but that we gradually turn this into a disease that people could live with routinely for decades.
Speaker 3 00:45:25 Um, and, and put that two to four years thing into the waste basket, but it might be a combination of treatments. It might be different treatments for different people. And I also wanna emphasize that one of the things that we really work hard on doing in our clinics when I say our clinics, I mean, every multidisciplinary, uh, center that treats ALS, uh, and we're again, fortunate in Minnesota to have, uh, numerous excellent clinics that do that. One of the things that we emphasize and focus on is trying to provide care that helps people do as much as possible, as well as possible as safely as possible. Um, it's not just about the drugs. Uh, it's about living every day, as well as one can. And there are things, a lot of things that can be done to try to help with that. I would also add that we know of one device, uh, devices that help with breathing that can be instituted early on and probably have a benefit for survival. So, um, living longer and better, even with a serious diagnosis, like ALS is not just about the drugs you take. It's also about other things that can be done to help
Speaker 1 00:46:35 Dr. Walk. I, I wanna thank you very much for coming on tonight. You've, um, provided great information and, um, I appreciate your time that you gave us
Speaker 3 00:46:44 Great. I appreciate your highlighting this very, very important conversation, and I appreciate your highlighting, um, things that we can do to help people living with disabilities in general.
Speaker 1 00:46:56 Thank you so much, sir. And I hope to have you back in the future.
Speaker 3 00:47:00 Great. Take care. Thanks again,
Speaker 1 00:47:01 You too good night. I wanna thank everybody for joining us tonight and thank Dr. Walk, and I hope that you will join us. Well, I won't be here next week. There'll be a fundraiser. So if you want to join the fundraiser you should, if you haven't donated to K F a I in this past year, that'd be a great thing to do. Show your appreciation for K F a I and the show. And if you don't do that, hopefully you'll be back in two weeks as I will. And join me then. Thank you so much. And you are tuned to K F 90.3, FMM, Minneapolis, and K F org. This is disability and progress and the views express on the show. Not necessarily those of K or it's board of directors. My name is Sam. I'm the host of the show. Charlene dolls, my research person. We were speaking with Dr. David walk tonight. Dr. Walk is a neurologist at the university of Minnesota medical school and Minnesota health Fairview. We were talking about ALS, if you wanna be on my email list, you can email
[email protected]. Fresh fruit is up next. Thanks for joining me. Goodbye.
