Expanding the Access and Possibilities of Care for Adults With Neuromuscular Disorders

Amanda Peltier, MD

Care for patients with neuromuscular disorders has evolved significantly over the years mainly because of advancements in medical understanding, technology, and treatment options. In some diseases, these therapies are the first of their kind to treat the disorder, and may even focus on correcting a genetic mutation. Additionally, there has been a shift toward a more interdisciplinary approach to care, involving various specialists such as neurologists, physical therapists, occupational therapists, speech therapists, social workers, and more.

At the 2024 Muscular Dystrophy Association (MDA) Clinical and Scientific Conference, held March 3-6, in Orlando, Florida, a session focused on clinical approaches to streamlining care for patients with neuromuscular diseases. One chair leader, Amanda Peltier, MD, presented on the multidisciplinary approach to adult patients, and the possibilities vs realities of treatment, while Urvi Desai, MD, FAAN, covered the pediatric aspects.

During the meeting, Peltier, a professor of neurology at Vanderbilt University Medical Center, sat down with NeurologyLive® to provide an overview of her session and why it was a topic of importance. She touched on the necessary aspects of multidisciplinary care and the barriers that come the medical community has faced in attempts to expand. Furthermore, she discussed the complexities with safely introducing gene therapy into the field, as well as how treatment goals change based on age.

NeurologyLive: For those who did not get a chance to sit in on your presentation, why this was a topic of interest for you?

Amanda Peltier, MD: This was a huge topic for us, especially living in Tennessee, where we have very few MDA centers, and we're the only MDA center. There's only one MDA center in Kentucky. We have a huge catchment area between all of Tennessee, northern Kentucky, northern Alabama, southern Indiana, and it's really hard for patients to get care. If they have to make multiple trips, that diminishes their ability to get care, especially if they're wheelchair-bound, or they have problems with transportation. Being able to offer a multidisciplinary care center, where you have all the providers involved in their care in one center one day is really important for them, and it makes their life so much easier. Having providers who know what their disorders are like [is critical].

We've been very blessed for having, for example, pulmonologists who really understand the difference between a pulmonary problem causing difficulty breathing and a neuromuscular cause of difficulty breathing. Having pulmonologists who can offer the right equipment and not diagnose them with asthma and give them the care they need is hugely valuable, not to mention having physical therapists who are familiar with their needs, occupational therapists, speech therapists, as well as social workers. It's a huge benefit to the patient. I think the biggest challenges in today's environment with all the pressures on space, time, and availability are how do you fund? For example, our allied partners in therapy can't bill for their time when they're just doing a 20-minute assessment. So how do we make sure that we have the funds and creatively figure out ways to pay for their time so that they can be part of our clinic because they're so important? For all of our patients who need voice banking and speech therapy, communication devices, patients who need wheelchair evaluations, gait training, and choosing the right orthotic, making sure that they're not spending five trips to modify that orthotic [for example]. Those are all hugely important.

Do you feel as though a lot of these issues stem from the top-down?

Well, I think it's still twofold. One is trying to make sure that we continue to have enough funding and resources. And then the other part is the downside of multidisciplinary care is that while there are many papers talking about how great it is for patients, how it improves patient survival, it's also extremely expensive to administrators. And it's not always easy for hospital administrators, so carving out space, carving out when all of us can get together in one space, how do we make that happen? That has become more and more challenging. We were lucky because evidently, our neurosurgeons don't like to work on Fridays, so we're able to use their space for ALS clinic. But just finding space on campus where you have enough rooms for all of those people to be in clinic at one time is really a challenge.

Are there certain specialists or personnel necessary to the interdisciplinary care of adults with neuromuscular disorders that are underutilized?

We have nutritionists, especially in our ALS clinic, and it's because it’s hugely important. There's a lot of data that shows that if you lose a lot of weight, that's actually the worst prognostic indicator for an patient with ALS. We put a lot of emphasis on nutrition, but we probably don't put enough emphasis on nutrition in our other patients with neuromuscular disorders. That's probably one thing that we probably do need to pay more attention to.

Our social workers are also hugely important. We also used our MDA grant for pay for our social worker time. The other things that I think we probably need to start incorporating are more genetic counselors to be available as well as having cardiologists available as well. Those are the pieces that we're not quite there yet. Of course, trying to get cardiologists to come on Fridays. I was told, "Well, we don't really have anyone who's available that day." (jokingly)

How can we continue to expand and improve care across the board?

I think there's a couple of options. First, I would really like to see MDA bring back their care representatives to the clinic. Bringing back the loaner closets and bringing back a lot of the other resources that the MDA personally provided to patients, I think would go a long way. I think that as far as care from us clinicians, I think that also maybe inviting more allied health and other specialists to the MDA Conference would be helpful in getting them to appreciate [this field]. So many of our heart failure cardiologists are involved with our dystrophy patients as they're living longer and longer. It used to be a pediatric thing, and I think now, trying to get the advocacy out that, hey, adult cardiology, you need to know about this, too.

Especially now with all the gene therapy, having more of a genetics presence in the clinic [is important]. We've been blessed at Vanderbilt with having a huge genetics program, but we haven't had them come over reliably to clinic. I think that having better availability—that might be an advocacy step—is to provide more genetic testing. The MDA did a great program where they were offering free testing through Baylor for neuromuscular dystrophy, mutation analysis, but expanding that to like, all Charcot Marie Tooth, all the disorders, because the problem is you can't find a cure if you don't know what the gene is. And you can't identify the patients for who should get that treatment if they don't know what gene they have. It's a big shift in thinking. Neurologists used to tell patients, “Well, it doesn't matter because we don't have anything for it anyway.” And shifting that thinking to saying, no, it actually does matter, we know what gene you have so that although we might not have a treatment today, down the road we might.

You have all the fun stuff that comes with genetic testing which is why I think having more availability of genetic counselors in clinic to talk about some of those things and also the different avenues for patients [is crucial]. For example, I had a patient with CMT (Charcot-Marie-Tooth syndrome) who had a very bad history, it ran in his family, his dad had it, and his he and his wife chose to adopt an embryo, which I didn't even know was that thing. But it was a great idea because then his wife could be pregnant, and it was open adoption so their kid will eventually know who their genetic family is. But then he didn't have any of the stress of worrying about taking that 50/50 chance of whether or not he was going to pass this neuropathy on to his kids. And I was like, this is a phenomenal idea. Hopefully, it was like, Okay, you guys need to talk about this.

Are there any major differences in the care of adult patients with neuromuscular disorders based on age? Whether they may be early-life, middle-aged, or elderly.

My colleague, Uvi Desai, MD, FAAN, MBBS, is going to talk more about the pediatric side. I think one of the things that we need to do a better job on that they touched at the care center conference is transitional care. Because for a lot of young adults, when they make that leap to adulthood, one of the biggest challenge is the drop-off in insurance. That is probably the biggest challenge we face. Because a lot of states like mine, have better coverage for kids with disabilities, and when they become adults, that coverage drops off as far as care in the home, etc. Also, just being able to talk about college, like, where are you going to go to school? How are you going to get a degree? Or vocational training? Are you able to make job opportunities possible? I think that is also something that we discuss with our younger patients, as opposed to older patients where you're talking about do you have a handicap? What’s your home like? Have you prepared? Do you have resources for like, do you need to go into assisted living? Do you have enough family members around? I mean, all those types of issues.

Transcript edited for clarity. Click here for more coverage of MDA 2024.