The Path to Pediatric Neuromuscular Neurology

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SS 229: The Path to Pediatric Neuromuscular Neurology

Session 229

Dr. Seth Perlman is a Pediatric Neuromuscular Neurologist, what is this specialty, and what was his journey to his current career.

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[01:59] Interest in the Specialty

Seth started medical school thinking about psychiatry. He was a psychology major as an undergrad and liked the neuroscience aspect of things. He thought he was going to focus on mental health.

Interest in Neurology

Within the first couple of those preclinical years in medical school, he quickly realized he was a lot more drawn to the content of the neuroscience course in neurology as opposed to psychiatry. And so, he landed on the neurology side.

Initially, he didn’t realize that pediatric neurology was a thing. Early on, he went to medical school in Chicago and it wasn’t really something you got a lot of exposure to, preclinically. Unless you were going to seek it out, it wasn’t something you got a lot of exposure to in medical school.

Seth had taught English at grade school levels in Japan for a year before he started medical school so he knew that he liked working with kids.

By his third to fourth year of medical school, he learned that pediatric neurology was a different pathway that you pursue. Yeah. And it clicked with him when he started spending time with their pediatric neurologist.

Interest in Pediatric Neurology

The pathway for pediatric neurology was you did two years of general pediatrics. And then it was three years of neurology. The way their program was structured was just mostly adult neurology. And so, it was probably not really until his fourth or early fifth year of residency, that he got some advice from one of the faculty. They told him it’s a good idea in neurology that if you have a procedure that you can do, both from a billing standpoint and making yourself sort of attractive to clinical settings and departments and things. It has changed since then though as it’s not nearly as much the lucrative thing that used to be to do procedures.

Interest in Neuromuscular

In neurology, there are primarily three procedures that people do frequently: EEGs, EMGs, or sleep studies. They had a lot of elective time in his last year of residency. He tried to get some exposure to all three of those and quickly gravitated towards EMG.

Ultimately, Seth found himself gravitating toward neuromuscular disorders including the pipeline of therapy development.

[07:06] Types of Patients

The two most common conditions they see are muscular dystrophy and spinal muscular atrophy. Both are genetic disorders.

Seth points out this is one of the distinctions to draw between the field of pediatric neuromuscular and adult neuromuscular. The latter deals with lots of genetic disorders. They are a lot more acquired like autoimmune or other sorts of neuromuscular conditions. Whereas on the pediatric side, they’re very much dominated by genetically based disorders.

Muscular Dystrophy (MD)

The most common form of muscular dystrophy is Duchenne MD. It is characterized by a change in the gene that encodes a protein called dystrophin, which is critical for maintaining muscle cell integrity and health.

Spinal Muscular Atrophy (SMA)

In this condition, there’s a genetic variation that impacts the neuromuscular system causing degeneration of the anterior horn cells.

Seth adds that there’s a lot of overlap among all of these conditions as far as the impact that they have on patients’ lives Most of these disorders will affect breathing muscle function. And some of them will also affect cardiac muscle just because there are a lot of similarities between cardiac and skeletal muscle.

[11:30] Traits that Lead to Being a Good Neuromuscular Pediatric Neurologist

On the pediatric side, you have to be comfortable with interacting with children and interacting with really a family as a whole.

'In pediatrics, in general, you really aren't taking care of a patient. You're taking care of a child... but there's a whole family unit that you're going to be interacting with.'Click To Tweet

A lot of adult specialists are not comfortable with kids or with the idea of kids having diseases. It’s a different kind of tragedy in children who have medical problems than the tragedy of maybe an adult who’s lived a pretty full life before they developed medical problems.

Whereas with children, it may even be early enough in their life that they would never have known life without this or that medical condition. So, that’s hard on people to wear. That being said, Seth doesn’t think this specialty is for everyone.

There’s an innocence to pediatric patients and nobody wants their child to have this problem. Nobody in society wants to see children get sick.

Seth thinks they have a much easier time getting certain things covered for children than we do for adults in terms of genetic testing. Part of the reason is that there’s a lot more willingness in society to support kids with issues.

[18:19] Typical Day

Seth is a pediatric neuromuscular person in a primarily academic setting and so he wears multiple hats every week.

Seth spends five days a week in the clinic. They also have a multidisciplinary clinic, where there’s a bunch of them collaborating on seeing the same small group of patients. Or Seth is doing EMG nerve conduction studies in their diagnostic laboratories.

His other time is research-based. They run a lot of clinical trials, most of which he is the primary investigator. They’re looking at novel therapies or other ways of trying to improve life for people with neuromuscular disorders. 

Seth is also involved in the educational side of things being the Neuromuscular Fellowship Program Director.

[22:28] Bias Against DOs

Seth says he has seen lots of DO program graduates who went through neurology residencies. Their hospital program is structured in a way that there’s a shared effort between neurology and the rehab department to handle all the big multidisciplinary clinics. And the rehab physician in charge of that part of the equation is a DO.

[23:40] The Training Path

For pediatric neurology residency, the standard path is a five-year residency with two years of general pediatrics and three years of neurology. One year of which is adult neurology. How that is structured within the program varies from residency to residency.

After completion of the residency, you then take a one-year Neuromuscular fellowship, although there are some places that have pediatric neuromuscular fellowships.

[25:44] Message to Future Pediatricians

Seth says that the sooner that things are identified, the better. What they could take as a prompt to get someone to see a neurologist would require getting the kid off the table. Make them walk and try to make them run down the hallway. Have them lay on the floor and try to get them off the floor. Seth says these are things that can really bring out things that parents may be noticing that sometimes isn’t necessarily a standard part of an evaluation in a primary care clinic.

Moreover, Seth points out that AST and ALT are not specific to the liver. 

Kids with muscular dystrophy have creatine kinase levels that are around 10,000-20,000. And they will always have high AST and ALT. There is some percentage of kids that get diagnosed not because of any muscle issues or weakness concerns, but because they got a big liver workup. And then finally, someone checks the CK.

There was even an instance where he saw a kid who got to the point of having a liver biopsy before someone checked the CK. They found it was really high and then referred them to neurology.

And so, Seth says it’s important to maintain a low threshold to send really cheap lab tests like a CK before going down this big hepatic pathway.

[28:35] What He Wished He Knew

Seth is just amazed at the incredible potential for improvement of care. When Seth finished his fellowship, there were no FDA-approved medications. The things that were being developed were still very much in the lab space. Then the first therapy for SMA came out in 2016.

'Historically in neurology, in general, there's sort of this old 'diagnose and adios' that used to be the joke about what neurologists do.'Click To Tweet

Since two more drugs have come out, there are a whole bunch more things being studied that are in a drug development pipeline. This is for a genetic diagnosis that a few decades ago, was diagnosed based on maybe a muscle biopsy and an EMG. And now they could do a gene test. They use genetically targeted drugs to change the outcome of it.

[32:35] The Most and Least Liked Things

Seth loves interacting with kids in the clinic and their families, especially just seeing the positive impact that medical care can have for them.

“There are so many things that can frustrate you… and if there’s anything regenerative and restores excitement and enthusiasm, it's interacting with patients and families.”Click To Tweet

On the flip side, what he likes the least is the administrative side of things. That being said, if he had to do it all over again, Seth would still have chosen to become a pediatric neuromuscular specialist.

[35:14] Final Words of Wisdom

Seth wishes to tell students who may be interested in this field to have an eye on what can be improved yet.

He finished his fellowship in 2013, and just in the years since then, a lot has come out that’s new and that has furthered things. So being aware and maintaining attention to what’s coming is really important.


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