Joey Wahler (Host): It's a disease that significantly impacts many children and their parents, so we're discussing muscular dystrophy. Our guest, Dr. Kathryn Fuchs, a pediatric orthopedic surgeon with Shriners Children's Portland.
This is Healing Heroes PDX, a podcast from the specialists at Shriners Children's Portland. Thanks for listening. I'm Joey Wahler. Hi there, Dr. Fuchs. Thanks for joining us.
Dr Kathryn Fuchs: Hi, Joey. It's nice to be here.
Host: Great to have you aboard. So first, before we get to muscular dystrophy in kids, tell us a little bit about what you do at Shriners Children's Portland.
Dr Kathryn Fuchs: Sure. I am a pediatric orthopedic surgeon. I specialize in care for patients with neuromuscular disorders as well as other pediatric orthopedic conditions like fractures or deformities of the lower extremities.
Host: Gotcha. So before we go any further, for listeners that may not know, we all hear about it, what exactly is muscular dystrophy and how does it affect children?
Dr Kathryn Fuchs: Well, muscular dystrophy is a condition that includes several different subsets. The overall definition of muscular dystrophy is a condition that affects muscles. It progresses over time and it is inherited either from your parents or there is a mutation in your genetic code that's not inherited from your parents, it just happened as we call de novo, meaning spontaneously happens. What it does is it leads to an abnormal and early breakdown of muscle tissues, often affecting a protein called dystrophin, which helps to keep the muscle cells safe. And when dystrophin's not there, the muscles slowly break down over time.
Host: So, when do muscular dystrophy symptoms first typically arise in children? What can parents be on the lookout for there?
Dr Kathryn Fuchs: The most common form of muscular dystrophy that we see at Shriners Hospital for Children in Portland is Duchenne's muscular dystrophy. That's about 50% of our patients with muscular dystrophy have this variety of the disorder. It is the most severe kind. It's affecting primarily boys and, in very rare instances and less severely, females. So typically, it will be a patient who is a male. What parents might notice is perhaps their son begins to walk later than other children. So, half of children are walking by one year of age and 98% of children are walking by a year and a half of age. So, if the child is walking after 18 months of age, that can be a warning sign.
Some other things that they might notice is sometimes these kids can have larger than average calves. The muscles in the calves can be partially replaced with fibrous or fatty tissue. So, that's something that sometimes you see in the kids' presentation. And occasionally, but not always, they will walk up on their toes and have trouble keeping up with their peers. For kids, you might find that they gain skills to a certain point. And then, they unfortunately start to lose some skills. Something that they used to be able to do is maybe now difficult for them. Like climbing up the stairs they used to be able to do, and now that's becoming more difficult. Boys with Duchenne's muscular dystrophy will often exhibit the first early signs of symptoms around 4 years of age. And the problem progresses to the point that they lose the ability to walk and are often in wheelchairs by their early teenage years.
Host: So, you mentioned the signs to look for if you're a parent. As a doctor that specializes in this, at what age would you make a muscular dystrophy diagnosis?
Dr Kathryn Fuchs: Great question, Joey. So ideally, it's earlier than I mentioned. The way that you would pick up a diagnosis of, for example, Duchenne's muscular dystrophy earlier would be by noticing that the child is perhaps walking a little later, so maybe around a year and a half of age. At that time, one of the best first tests begin to make the diagnosis as a blood test where you look for a breakdown product of muscle called creatinine kinase. And by getting that blood test early on, you can identify that the creatinine kinase level is higher than would be expected. And that would then lead you to do some genetic testing, which often picks up the diagnosis.
Occasionally, there are many different forms of muscular dystrophy, Duchenne's muscular dystrophy being the most common. And some of the less common types of muscular dystrophy, we will sometimes need to do some additional tests like a muscle biopsy or other tests to look at how the nerves are functioning in the legs and arms to help to identify the subtype of muscular dystrophy. And each of those subtypes can have a little bit of a different presentation. The Duchenne's kiddos tend to have a more severe presentation. There are other forms of muscular dystrophy that don't affect you until later in life, are not as severe and do not shorten lifespan as muscular dystrophy does.
Host: So whether it be for a diagnosis, as you just touched on, or for treatment, if it's been diagnosed, what generally can parents expect when bringing their child into that neuromuscular clinic at Shriners Children's Portland?
Dr Kathryn Fuchs: So at what we call it a multidisciplinary clinic, and it's a bit different than your average doctor's appointment, and the goal of this Neuromuscular multidisciplinary clinic is for patients who do have a diagnosis like muscular dystrophy, we want to make the appointment as target-rich and as helpful as possible with all or many of your providers coming to you rather than you having to go around to multiple different doctor's appointments.
So during that appointment, you can expect to come in and spend some portion of the morning typically with us where you'll usually see three or four different medical teams, including the pediatric orthopedic team, the pediatric genetics team, the pediatric neurology team, and oftentimes also for our muscular dystrophy patients, the pediatric endocrinology team. So, it's like four doctor's appointments in one. You go to your room that you'll be seen in and each of those doctors come in one at a time to talk about kind of different pieces or aspects of your care to try to give you a really 360-degree approach.
We also do a lot of care coordination where we communicate with other providers outside of the multidisciplinary team. Many of these kids also will have a cardiologist and a pulmonologist, and we make sure that they're continuing with their care and recommendations and followup those care recommendations. And then, we have a wonderful physical therapy, occupational therapy and speech therapy team. And those therapists are in the appointment as well as needed for any equipment needs for helping to mold any orthotics. We have a great orthotics and prosthetics team.
And then from the social side of things, because these are often a combination of medically complex patients. And also, the social situations or kind of any stressors that come up in the home life that may be barriers to care, we help to try to navigate any difficulties or barriers to care through help from our really excellent social work team. And we also have a nutritionist. All of these providers are available to each of the patients during each of their appointments and we call it multidisciplinary because there's so many different areas that we try to address during one appointment.
Host: Indeed, it sounds like all the bases are covered. How about many people, of course, doctor, remember the late Jerry Lewis hosting the famous telethon for years on TV, which brought so much attention to muscular dystrophy? In the decades since that was a focus, because that was a while ago, what kind of advances have been made in addressing muscular dystrophy, especially for kids? What are some of the things that can be done now that couldn't be done, say, a generation or two ago?
Dr Kathryn Fuchs: Yeah. Great question. And I am a historical fan of Jerry Lewis as a comedian and humanitarian. He's brought a lot of attention to this topic and there have been some great advances. There unfortunately has not been a cure established for muscular dystrophy. But compared to the time when Jerry Lewis was doing his famous telethons, for example, the expected lifespan of a child diagnosed with Duchenne's muscular dystrophy would be kind of early teens around that age.
We now routinely are seeing patients with Duchenne's muscular dystrophy living into their mid to late 20s and some even into their 30s. And one big shift in care for these patients has been the realization that corticosteroid medicines such as prednisone and deflazocort have been very helpful and protective for these patients' skeletal muscle systems that have a tendency to sort of weaken and break down over time.
While the mechanism behind why steroids are so helpful is not fully understood, it's thought that it helps to decrease inflammation and preserve strength for longer, what we find is that when we treat kids with steroids, usually around somewhere between four and six years of age, around preschool time, we start the medicine for families who are interested in that care, we find that the boys who take this, they're walking for longer. They're staying stronger for longer. Their cardiac and pulmonary or their heart and lung function is remaining stable for longer. And there's some important parts of the disease that used to be very prevalent, like very bad scoliosis. We're seeing much less scoliosis in kids who are treated with steroids and it's helping the kids to avoid some of the big surgeries we used to do, like the scoliosis surgery as a result of treatment with the steroids.
There's additionally some really promising trials going on right now. These trials are something that our multidisciplinary team will help to enroll kids in if and when they're interested and they qualify. And the two big areas, as we kind of look to the horizon in the future, and hopefully for a cure for this disease is gene therapy and also some what they call antisense nucleotide medicines where you can either with gene therapy ideally replace the mutated gene with a gene that's functional or at least kind of, so to speak, cover up the mutated genes so that the body can make that dystrophin that protects the skeletal muscle from breaking down. If not make it in a way that's normal, but make it in a way that's more normal so that it can help to keep kids healthy for longer.
Host: Wow, that sounds amazing. A couple of other things. There are children suffering from muscular dystrophy who nevertheless are able to accomplish some amazing things in their lives. I'm sure you're often privy to and touched by those things. Can you give us at least one example of something like that, that you've seen that really stands out?
Dr Kathryn Fuchs: Oh, absolutely. I hold these kids really dearly in my heart. They're really amazing people. There's so many of them who've done really incredible things despite their diagnosis. And perhaps because of it, I think that it's very common that these kids are inspirational to their friends and family members in how brave and level-headed they can be. Despite having an unfortunate and sad diagnosis, many of them live very full lives and contribute a lot to their communities.
I can think of one patient in particular who has him and his family members are in this wonderful band. He plays the drums in his family band. They are a mariachi band and they play at weddings and he's really featured in the band. And despite the fact that he has weakness, he's come up with really creative ways to adapt so that he can continue to play the drums. And I know patients who are athletes, they compete in the Special Olympics. They give speeches and inspire others every day.
Host: inspirational to say the very least. Finally, in summary, doctor, as you've touched on, these are kids suffering from muscular dystrophy that typically are under the care of various doctors from all corners of the medical field. In a nutshell, what's the best advice you'd give to a family with a newly diagnosed child suffering from muscular dystrophy as to how to handle all of that that's coming at them?
Dr Kathryn Fuchs: Sure. I'm a mother myself. And when you have a baby, you have some thoughts and dreams and expectations. And having a diagnosis like this, there's really no way to get around the fact that it's heartbreaking. And when you first get the news, it's not a news that any parent or family wishes to hear.
When sharing news like this, I try to keep one foot in sympathy, support and validation for the surprise and the sadness that occurs with a diagnosis like this. And another foot equally in hope. So, I think that the combination of support and validation and hope is really important because despite the fact that we don't have a cure, there have been a lot of advances. And a lot of times when you receive bad news in a medical setting, you can really feel a tidal wave of feelings in that moment. So, I try in the first moment to not add too much information too soon, but suffice it to say that there have been some incredible breakthroughs with sort of sister diagnoses. There's one called spinal muscular atrophy, for example, with gene therapy. Just since 2016, we've had incredible advances in the treatment of that particular illness, and it is tangentially related to muscular dystrophy. There's a lot of very smart people thinking of very creative solutions for this. And the supportive therapies that we have currently are also excellent and have helped to expand lifespans and improve quality of life.
And despite the fact that, today, while it's true that we expect these kids to get weaker over time and lose the ability to walk and have shortened lifespans, all of which is incredibly sad and difficult, in that lifespan, these children are angels on earth. They really inspire people. They live happy, full lives. And we really share a lot of good times together. expect that over the coming decades, there's only going to be more good news. So, I think that firmly keeping that other foot in hope is really important for a family who has a new diagnosis of muscular dystrophy.
Host: Well, folks, we trust you're now more familiar with muscular dystrophy in children. Dr. Katie Fuchs, the word specialist gets thrown around a lot nowadays in the medical world. And it sounds like aside from being specialists that the work that you and yours are doing is just special period. So, keep it up. And I'm sure much of that optimism that you just discussed is because of what you all do on a daily basis. So, congratulations on that. And thanks so much again.
Dr Kathryn Fuchs: Thanks for having me. It was a real pleasure.
Host: Same here. Thanks for being with us. And for more information, please visit shrinersportland.org. Again, that's shrinersportland.org. Now, if you found this podcast helpful, please do share it on your social media. I'm Joey Wahler. And thanks again for listening to Healing Heroes PDX, a podcast from the specialists at Shriners Children's Portland.
