Neurologist Interview

Glendy - Why is muscular dystrophy seen as a mental illness?

Muscular Dystrophy is a very complex disease that affects the muscles and weakens them overtime. There is no cure for this disease. There are only treatments that can help with the symptoms. There is a ton of research that neurologists are mainly doing to try to find a cure and solutions to this disease. The majority of people that get this disease are transferred by their parents. People with muscular dystrophy is often very hard to figure out because it can most of the time be seen as not something serious or as it was all made up in the mind. It can be very discriminating against people who have this disease because they are not taken seriously or get the right medical attention. It can cause a lot of caos between doctors saying that it is all normal until they dig deep to figure this out. The person is at a high risk of dying sooner because of all the health problems included. It mainly affects the heart and lungs. Those are two of the biggest factors that patients are dying from. From this knowledge I’ve presented, I’ve decided to get a neurologist’s point of view of what they do in the office and how they work with patients that have this disease. A brief introduction to my neurologist, his name is Dr. Jonathan Strober, he is a specialist in childhood disorders of the nerves and muscles. He directs child neurology services and the Neuromuscular Clinic at UCSF Benioff Children's Hospital, which is sponsored by the Muscular Dystrophy Association. He has advanced training in electromyography (recording the nerve function of muscles) to evaluate patients with suspected neuromuscular disorders. His research investigates new therapies for children with neuromuscular and mitochondrial disorders, “Mitochondrial diseases are chronic (long-term), genetic, often inherited disorders that occur when mitochondria fail to produce enough energy for the body to function properly. Mitochondrial diseases can be present at birth, but can also occur at any age.” including a study to determine the safety of a dietary supplement called creatine monohydrate. “Creatine is a substance found naturally in muscle cells. It helps your muscles produce energy during heavy lifting or high intensity exercise.” He earned his medical degree from the Lewis Katz School of Medicine at Temple University and completed a residency in pediatrics at the Long Island Jewish Medical Center. He completed a fellowship in child neurology at the University of Pennsylvania's Perelman School of Medicine, followed by a fellowship in neuromuscular disorders at Emory University School of Medicine. The interview begins with me asking the neurologist what he does on a typical day. He then told me his schedule of what he does throughout the week

Dr. Strober - the clinic all day Tuesday all day Thursday but I switched but now so right now I go in. I just sometimes do in person visits and then sometimes you know telemedicine

Glendy - Telehealth Medicine is done without in person visit, it is typically over a phone call or zoom call with your doctor. It would be mostly done at home or whenever the doctor has time to but outside the office.

Dr. Strober - In the afternoon and then on Wednesday is our special you know muscle muscle clinic. Um So I go in for that and then in the afternoon I sometimes do the electrical electrical tests that help with some of those patients and then Friday's pretty much all day home telemedicine. So it definitely is a variable thing. And then you know in between there I'm again trying to catch up on all the other things in between patients and there's extra time I have my research that I need to update and keep going and lots of paperwork for that and um you know meetings with people like that. I just got off another meeting with somebody about a research project I'm working on that we need to update. So um some of the time is free and some of the time it's just scheduled time.

Glendy - What are your experiences with other patients who have muscular

dystrophy?

Dr. Strober - So I finished my training learning about nerve and muscle disorders 23 years ago, 25 years, it's crazy. Um So I went to training to learn all about diagnosis and treatment. Um And so then I have the clinic once a week where we see most of those patients. Um And that's where I've seen you and that's where we have our team that helps me helps take care of people Um And we're constantly you know burning and like it's very different now like all the genetic tests that we can do we didn't have when I first started, we did more muscle biopsies back then. Um So you know I I go to conferences where we learn about new things so I can keep up to date and kind of keep changing my practice and um and how we do things.

Glendy - It just is ... is there any research that is true? Is there any research on possible cures?

Dr. Strober - Definitely. Yeah. So in the most recent years um gene therapy is kind of the way we've been treating um or studying to treat and I guess care if possible people like because if you have a gene that's not working properly if we can give you that gene and your body can make its own gene that's complete. Um Then it's basically like carrying a disease in a sense there are definitely problems with it. It's not a perfect solution yet but it's definitely a big step in the right direction

Glendy - I believe. Um dr the last doctor that I saw a lot. Um, I think it was this year. Yeah. Ah He told me well he gave me a medication that I've been really trying to get but it's really hard to get from the pharmacy. Um It's called purse tag me and he said that that helps with um it's called helps with the muscles like so it doesn't hurt as much but I haven't tried it yet. What is your opinion on that? ...

Dr. Strober - It's a medical question. Um So is something we used for a condition called Myasthenia gravis. Um Bye. I don't know what you heard. Um stig basically blocks the breakdown of something called acetylcholine which is the chemical that stimulates the muscle after it's released from the nerve. And um and so the thought in some people with muscle and their problems is that if you kind of allow that to stay around longer it could help build you know increase your muscle strength a little bit.

It's not a major powerful drug, it's pretty low risk. Um It's worked for a couple of patients. It's not the most you know, it's not the most powerful thing we have and it may or may not do anything but it's low risk and I was wondering who prescribed that? Is it Dr. Fay that you saw or is it somebody else?

Glendy - What is the typical reaction when patients find out that they have muscular dystrophy.

Dr. Strober - Um So you know if you kind of expect like if it's a family history um you know you're getting tested because there's other people in the family sometimes it's a little bit easier to because you're already kind of preparing yourself for the possibility and then you also know somebody who has it? So it's not kind of a big unknown but a lot of times when we get that diagnosis, people, you know, people have an idea of what that is and what it means. Um, and you know, they think of the worst case scenario and it's not always the worst case. Um, sometimes it's, you know, much milder form. Um, you know, the first is a shock and kind of like sometimes a relief and having a diagnosis where everyone is just so different, right? Some people are just like, oh my gosh, I've been having these problems for so long and nobody can figure it out.

Now. You just gave me a diagnosis and that makes me happy, Right? So that's a possibility. But then it's like, well what does that mean? What does that, what is it going to look like for me in the future. And then of course a lot of that is a big unknown and that makes it hard for people to ..

Glendy - definitely um, because now researching it, I have more of an idea than I did before. When I first found out, especially writing this paper, I got to see a different perspective like other patients that also have it. ...

Dr. Strover - Yeah, I mean, I think that this is probably a really good thing for you. Awesome.

Glendy - Yeah, definitely. Um, what is the current research that you're currently doing?

Dr. Strober - Um, so I have a lot of studies going in different diseases in terms of muscular dystrophy right now? We have two studies. One is um, an antibody against something called connective tissue growth factor. So what happens is when your muscles break down, it builds up the connective tissue and the muscles and blocks you from being able to make more muscle. And so this anybody will help break down some of that connective tissue so that you have more space for your muscle. And the other one is a drug that works on very specific genetic mutations um to help prevent it from um causing you know, it kind of increases the ability for the Dean to be produced. ...

Glendy - I forgot the name was. I think it's somewhere in my research, but it was talking about how it gave a negative um what's it called? Side effect and that the FDA was not accepting it because of that. And because not a lot of people were testing like it didn't pass the called. ... Um they didn't do too much testing over it. I don't know if you know what the name was. You kind of forgot.

Dr. Strober - I there's so many things going on. I couldn't tell you …

Glendy - maybe if I can find the link, but ... and okay, another question that I have is like, I'm really curious about is like my personal I guess like diagnosis. Um I've been wondering because my mom has been on oxygen since like the past year and I'm wondering if that's going to happen to be to like the same way that she is or is it going to be less of what she's going through?

Dr Strober - So there's no way I can predict any of that. I mean typically you would expect the same changes with the same genetic change that you would have to sing of course, but it's not necessarily the case. Um And also, and you know, you're gonna, you're gonna go through this at a different time when Madison is different and so it may, you know, you may, there may be things that come out that will help you so that it doesn't get to that point. There's a lot of, there's a lot of possibilities out there for things to be different for you. ... And this is like, and I'm like 30 mid thirties, probably That's when your mom, right? Yeah. So you have a way to go, you have at least 10 plus years, right?

Glendy - Yeah, yeah, that'll be 20.

Dr. Strober - So within the next decade, I hope we have much better treatments. ...

Glendy - Um Another question. Um ... Yeah, pretty much asked all of my questions. Yeah. ... I just wanna appreciate you taking your time to um have this phone call and for me to get more information on this topic and I just want to appreciate just everything that you've done at this point and on.

Dr. Strober - Thank you. Just let us know. ...

Muscular Dystrophy Treatments can be a variety of different ones. Specific problems can be tailored to the needs of the patients. The different ones that are available are Respiratory Therapy, it can be oxygen that would help pump air for those weak lung muscles, Physical Therapy to improve muscle strength in everyday activities, Occupational Therapy can help patients to do basic skills like brush teeth and walking around the house a few times, Speech Therapy for those who need to strength their face and neck muscles in the way that they talk, Surgery can be needed for any muscles that cause discomfort in the patient, Drug Therapy can be many medications that can work for those who need pills for their pain, and Gene based Therapy can be used to correct a certain gene that was in the disease and can help correct the disease disfunction making it almost a possible cure.