Myasthenia gravis is a rare autoimmune disorder that causes symptoms such as a drooping eyelid and muscle weakness. In children and adolescents the disease is called juvenile myasthenia gravis (JMG).
In this video, an experienced team of neurologists, neuro-ophthalmologists and pediatric surgeons from The Children's Hospital of Philadelphia (CHOP) talks about how they work together to provide treatment for myasthenia gravis.
Watch the video to meet families who turned to CHOP for myasthenia gravis treatment and learn more about the different forms of the disease, including ocular myasthenia gravis, with droopy eyelid (ptosis) the primary symptom, and generalized myasthenia gravis, when the disease affects more of the body. CHOP clinicians also discuss the different myasthenia gravis treatment options, including medicines and thymectomy, surgery to remove the thymus, which can result in complete remission. (Many thanks to the Zalewski family, whose generous support helped make this video possible.)
Myasthenia Gravis in Children
Alexander: When I was in 7th grade — when the symptoms were really kicking in, that's when the bullying really started. My friends thought it was funny that I would fall easily and it eventually caught on to the whole grade that if you gave me a little push, I would fall over and this to boys was highly amusing.
Madeleine, Alexander's mom: I think the worst part of this whole episode is that he had to endure 18 months’ pre-diagnosis and broke my heart that he had to endure that on his own.
Thane Blinman, MD, pediatric surgeon: The problem with myasthenia is that it can be hard to diagnose and the symptoms are just weakness or this facial weakness can be ignored or contributed to something else like laziness or clumsiness and so we often see a delay in diagnosis which is actually something we're trying to help prevent.
John Brandsema, MD, pediatric neurologist: Myasthenia gravis is an autoimmune disorder and what this means is that the immune system is overactive. Somehow the body gets tricked into attacking the neuromuscular junction — the connection between the nerve and muscle as if it were foreign or something to be gotten rid of.
Thane Blinman, MD, pediatric surgeon: What causes this problem is a mistake in the immune system and the body makes antibodies that are specific against what we call the motor endplate which is just the wiring between the nerves and the muscles. There's a little junction there and inside there there's a chemical transmitter that comes out of the nerve and goes onto the endplate here and there's receptors there for that chemical transmitter. This antibody binds to that receptor and blocks that. It's like cutting a telephone line.
Grant Liu, MD, pediatric neuro-ophthalmologist: Well myasthenia gravis can present in two forms. There is an ocular form with the eyelid drooping and the eye misalignment and then there's the generalized form where the child may present with the swallowing difficulty, breathing difficulty, arm or leg weakness.
John Brandsema, MD, pediatric neurologist: It can happen at any point in the lifespan. We have children under the age of 2 who develop auto immune myasthenia and elderly people in their 70s and 80s can develop it for the first time.
Grant Liu, MD, pediatric neuro-ophthalmologist: The reason they come to a place like Children's Hospital of Philadelphia is to see experts who have a vast knowledge of these conditions who've seen many, many patients with that disorder and who have a lot of experience with the diagnosis and management.
Madeleine, Alexander's mom: What we noticed in Alexander was as he's growing in height, he was a bit awkward. He would bump into you occasionally then we noticed that he didn't want to smile for any photographs.
Alexander: I think a lot of people do take smiling for granted because when I couldn't smile, I definitely felt ashamed. When people would talk to me I'd be like ah I want to smile at you — I wanna make myself welcome for you to talk to me and I just couldn't.
Madeleine, Alexander's mom: He was not fluid in his movements. But sometimes you put it down to awkwardness of an adolescent boy. We had no idea it could be anything else.
Alexander: It was a gradual process. It got gradually worse. I would walk upstairs and suddenly my knees would give out or I would fall and I just thought oh I slipped or just missed a step.
Content on screen: Alex continued to fall and suffered four concussions.
He had difficulty brushing his teeth and holding his head up in class.
As symptoms worsened, his parents took him to a series of specialists, but couldn't find a diagnosis.
John Brandsema, MD, pediatric neurologist: To establish a diagnosis quickly is crucial in myasthenia gravis because there is damage occurring at the junction between the nerve and muscle throughout the course of the disease and without treatment, this damage eventually becomes permanent.
When we look at treating myasthenia, we have many options and our goal is for somebody to have a completely normal life and not know that they have myasthenia whatsoever.
Grant Liu, MD, pediatric neuro-ophthalmologist: We are very aggressive with the treatment of patients with myasthenia because we feel that earlier the patients are treated, the better off they do.
Thane Blinman, MD, pediatric surgeon: The thymus is an organ in the chest. The thymus sits right here underneath the breastbone, can extend all the way up to the neck and extends down over the top part of the heart and it is an organ for training the immune system
Grant Liu, MD, pediatric neuro-ophthalmologist: Well we like to do a thymectomy to remove the thymus because we think that it helps us use less medication and reduces the risk in patients who start with ocular form of myasthenia spreading to the rest of the body. We believe that the once the child is old enough and doesn't really need the thymus anymore that taking out the thymus does affect the immune system in such a way that it helps the myasthenia improve.
Thane Blinman, MD, pediatric surgeon: All right, so I'll see you guys in the recovery room afterwards.
Thane Blinman, MD, pediatric surgeon: So we make three small incisions on the chest here and through those three incisions we'll — in one we'll place the camera — and in two others we'll put very small tools that let us grasp and dissect. The thoracoscopic methods weren't really available to children except for the last you know six years or maybe even the last decade and instead a thymectomy in a child usually involved a big incision from the notch of the neck and splitting the breast bone like open heart surgery. Well the benefits of the thoracoscopic approach with the tiny incisions are gigantic cause we sneak through the spaces between the ribs.
We don't have to cut any bone. We don't divide any muscle. The incisions themselves are so small that the pain involved is really minimal. What used to take about a week to get over is now just a single night in the hospital in most cases.
Alexander: So I had surgery on Monday and I was out of the hospital the next day and then went back to school on Friday.
Thane Blinman, MD, pediatric surgeon: And like anything in life, practice makes perfect. We know that we have one of the largest if not the largest series of cases in North America and maybe in the world. We're very, very experienced and have an established track record from doing this procedure very safely.
Madeleine, Alexander's mom: We are very fortunate to be living so close to such an excellent facility as CHOP and right from the beginning, and initially you're really very traumatized by the fact that there's something wrong with your child yet everyone seemed very efficient, competent and very nurturing as well. We really trusted Dr. Blinman. He did explain it so well and we felt we'd done our research and we thought this will give Alexander a chance to beat this disease.
Thane Blinman, MD, pediatric surgeon: Well the improvement after the thymectomy can be dramatic. In the best cases within a few months, they may have complete remission of the disease and certainly some improvement in their weakness even as the medications are coming off but that's not everyone. And it can take weeks, months or years before the effect is seen and in some they'll never get any improvement so as soon as the operation is over the patients can expect to just start back up on the same medication and then later the neurologists will start to withdraw those drugs based on their symptoms.
John Brandsema, MD, pediatric neurologist: Remission is a tricky term in myasthenia because what we hope is that the disease is never going to come back and that the person will remain symptom free however once someone's immune system has learned how to attack the nerve muscle junction it knows how to do that forever and it can happen at any point. We have patients who become symptom free and are fine for years then come back with exactly the same symptoms again two years later, 10 years later and having myasthenia is a lifelong disease.
Thane Blinman, MD, pediatric surgeon: We don't promise that people will get better by having their thymus taken out. What we can promise is that their odds of getting better are improved.
Grant Liu, MD, pediatric neuro-ophthalmologist: Once the child has reached a period of stability, typically we just do annual follow-ups to make sure the child's doing okay. That there aren't new symptoms. Our goal is to make sure that they have no or very little symptoms for the rest of their life so they can lead normal lives.
Alexander: So it's been two years since my surgery and I'm doing excellent.
John Brandsema, MD, pediatric neurologist: To be able to get him on treatment where those symptoms improved and he was actually able to return to the activities that he usually did was really gratifying because I saw him go back to be a thriving teenager.
Thane Blinman, MD, pediatric surgeon: It is awfully gratifying to see someone get such a good result and we hope for that result with every patient.
Madeleine, Alexander's mom: He would make us laugh because he would come in — check his smile in the mirror just to make sure it's still workin'. It would give me a lump in my throat — it still does to this day to see him smile.
Alexander: My sports has come back. I'm now one of the most athletic kids in my high school and I'm — people like me better because I can smile at them — I can talk to them. I don't hide away from social scenes and it really does feel like a different person.
Topics Covered: Myasthenia Gravis
Related Centers and Programs: Division of Pediatric General, Thoracic and Fetal Surgery, Division of Neurology, Division of Ophthalmology