Maggie McKay (Host): Welcome to UK HealthCast, a podcast presented by UK HealthCare. I'm your host, Maggie McKay. Joining us today is child neurologist, Dr. Neil Toupin, to tell us about Duchenne muscular dystrophy, what it is, how it's treated, what the symptoms are and beyond. Thank you so much for being here today.

Neil Toupin, MD: Thank you for having me.

Host: So, can you tell us a little about your work and what inspired you to specialize in helping kids with neurodevelopmental conditions?

Neil Toupin, MD: Yes. So, I'm a child neurologist. I didn't realize initially I wanted to be a child neurologist. I thought I wanted to be a Family Medicine doctor, because I love the idea of helping patients and their families as a unit. And then, when I was doing one of my rotations in medical school, I met a young man who had cerebral palsy, severe cerebral palsy, and this man had a great life. He was living independently. He had a job. He did a lot of things that you'd think because of a disability he may not be able to do.

And in talking to him and with his family, I realized it was this exceptional family that he had that allowed him to do the things that he was able to do. And I thought, "How can I work in a job where I can care for families like that and help patients like that live their life to the fullest?" And so, from that, it led me to Child Neurology and then, ultimately, to caring for kids with conditions like Duchenne muscular dystrophy.

Host: I always love those stories when it's just one person who made a difference for your whole life, the way your path would go. That's so wild. So, let's start with the basics. What is Duchenne muscular dystrophy and how does it affect kids?

Neil Toupin, MD: Duchenne muscular dystrophy, it's a disorder of the muscles. It's a genetic problem that primarily affects boys. And just because it's genetic doesn't mean it's inherited. Sometimes families don't know that they're carriers of this, or sometimes babies are born, and they have no idea and their child has Duchenne muscular dystrophy. And what it does is it causes loss of muscle strength over time, progressive muscle weakness; ultimately, unfortunately, leading to an early death, typically in adulthood, early adulthood.

Host: So, when do you typically start to see symptoms in a young child with DMD? What are some of those early signs that parents might notice?

Neil Toupin, MD: Families typically start picking up on the weakness around age four or five years. Boys may not be keeping up with their peers. They may have muscle aches or pains walking on their toes, slower getting up from the ground, things like that. They bring up to their primary care doctor who eventually can make the diagnosis or get them to the right diagnosis. But sometimes there's even symptoms before the four or five-year mark with motor delays or delays in other areas like speech, or fine motor delays. That can sometimes be seen in boys with Duchenne.

Host: Since kids hit milestones at different times and progress so differently when they're very young, when should a parent ask for a developmental or neuromuscular evaluation?

Neil Toupin, MD: We tell families that they should trust their instincts. I think that moms, especially moms, inherently know when there's something that's a bit off about their child. And I tell them to trust that, even if other people aren't seeing it, even if their doctor's not seeing it, to trust that instinct and to go with it, because parents often pick up on these subtle things first. And then, through their efforts, eventually, the right diagnoses can be made.

In particular, in Duchenne you can think about the motor delays. If your child's losing skills they already had, or they're getting progressively weaker in some area, then those are definite red flags that you should bring up to your doctor.

Host: If a child is diagnosed with Duchenne, what do the early stages of care look like?

Neil Toupin, MD: So, the early stages of care can be a bit overwhelming. Children still though, at that stage, typically when they're five six, they still have a lot of strength, they still have a lot of good function. And we want to start treatment early so that we can preserve that strength as long as possible.

 We have a wonderful care team here at UK HealthCare where have team of people that will see the patients together to decrease the burden on the families, but also just to make sure that families are heard, that their questions are answered and that kids get pointed in the right direction. Ultimately, we want kids be kids, to live their normal life, and to let all the worrying go to us as doctors or their parents. So yeah, that early phase, it's a bit scary, but you're part of a team and we help you through it.

Host: And speaking of teams, if a patient with DMD is in your clinic at UK HealthCare, what other kind of doctors or specialists are involved in their care? How is the care team coordinated at UK?

Neil Toupin, MD: So Duchenne, as I mentioned, can be a very overwhelming diagnosis. Part of that is because of the number of different Providers, healthcare providers, that your child should be seeing. So, it's not just a neurologist. We also have therapists, physical, occupational, speech therapists, psychologists. We have social workers, dieticians. We also have heart doctors, lung doctors, endocrinologists, who all play a really important role in the care of boys with Duchenne. And these providers in our clinic all work together. We all work in the same one or two-day clinic to really make sure that we all communicate well, but also to decrease the burden on the families.

Host: Wow, that's a lot of people caring for a child. We hear that medicine is always changing. Can you talk about newer treatments or therapies that are available to help with DMD?

Neil Toupin, MD: It's a rapidly changing environment as far as treatments that are available for Duchenne and some really promising things that have come out in recent years. So for a long time all we had were steroids, which do help prolong strength, keep kids walking longer, upper extremity strength longer, but they have a lot of side effects. So, there are newer versions of the steroids that have fewer side effects that may be right for your child.

The other thing is there are what are called exon-skipping treatments or HDAC treatments, which can prolong strength beyond what steroids would do on their own. And then, there's a really new class of medicines called gene therapies, which although they're a bit controversial at the moment, I think that we will find that there are gene therapies that make a tremendous difference in Duchenne over the long term and, ultimately, greatly expand, prolong the lives of the boys will live with this disease. And then, there are other treatments in the pipeline, a lot of clinical trials for really exciting things that ultimately will just improve the quality of life of these kids.

Host: Well, it's so encouraging to hear, you know, about all the progress since maybe, I don't know, 10 years ago. But I imagine still this diagnosis can feel overwhelming. So, what do you tell parents who are just starting out on this journey?

Neil Toupin, MD: First thing I tell families is don't panic and you're not alone. There is a tremendous Duchenne community, not just the medical providers and the team here at UK HealthCare, but there's patient support groups like Parent Project Muscular Dystrophy, which have tremendous resources, families can access those, meet other families with the diagnosis. Really, you become part of a larger community, a larger family, when you receive the Duchenne diagnosis. And that can be tremendously helpful. So yeah, you're not alone.

Host: It's always good to have support and other people who know what you're going through, because even if you have a thousand friends, if nobody else has a child with this, it's a different deal. What should parents start planning for as their child approaches the teenage years or when they're getting closer to becoming an adult?

Neil Toupin, MD: So, our goal with all of these treatments, all the things that we do, is that we want patients, we want boys with Duchenne to live normal lives. We want them to experience the things that normal kids experience, normal people experience. And so, adolescence is no different. We want kids to go to school, we want them to go to prom. We want them to participate in all the social activities that normal teenage kids would do. We just need to adapt our medical approach to fit their needs to allow them to do that. So, for example, if boys are losing the ability to walk, we need to make sure that they have adaptive devices like wheelchairs in order to help them get from place to place. We need to make sure that they have supports in the community that allow them to be transported from place to place. So, adolescents poses its own challenges and we try to fit fit those challenges over time with the family.

And then, for adults, adults have their own set of problems. Unfortunately, by adulthood, a lot of Duchenne patients are quite a bit weaker, but still a lot of them are completing college, they're getting jobs, they're having relationships, starting families. And so, we want to support them through that. It's just going to require different supports on our end as far as equipment and medical care.

Host: You work with a lot of these patients. What gives you hope when it comes to caring for kids with DMD?

Neil Toupin, MD: My hope is that children with Duchenne can live the same lives that neurotypical children live, as far as the things that they enjoy, the activities that they do, and the length of life that they live. And I am optimistic with the treatments that are here and coming that we will get to that point. And so, my goal is to help kids live life to the fullest, and I think that we will get there with this disease.

Host: And what's the biggest piece of advice you would give to parents who are worried about their child's development?

Neil Toupin, MD: I think if you have concerns about your child's development, speak up. And then, if no one listens, speak up again. I think that there are a lot of cases that I've seen of diagnoses that maybe were delayed, where families were just told the first time, oh, there's nothing wrong, and they didn't necessarily push it. I think if you have that gut feeling that something's not quite right about my child, speak up until you're heard. Because I think that in cases of Duchenne, at least early treatment, makes a big difference.

Host: I agree with you a hundred percent, in healthcare in general. And if no one's listening, go to another doctor. Get some other opinions, right? Well this has been so educational and helpful. Thank you so much for sharing your expertise.

Neil Toupin, MD: Thank you for having me.

Host: Of course. Again, that's Dr. Neil Toupin. To learn more, please visit ukhealthcare.uky.edu/kentucky-neuroscience-institute or ukhealthcare.uky.edu. And if you found this podcast helpful, please share it on your social channels and check out our entire podcast library for topics of interest to you. I'm Maggie McKay. Thanks for listening to UK HealthCast, a podcast from UK HealthCare.