>> 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.
>> 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.
>> 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 attributed 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.
♪♪
>> 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.
>> 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.
♪♪
>> 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.
>> 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.
♪♪
>> 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.
♪♪
>> 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.
>> 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.
>> 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.
>> 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.
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.
>> 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.
♪♪
>> 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.
♪♪
>> 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
>> 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.
(All right, so I'll see you guys in the recovery room afterwards.)
>> 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.
>> So I had surgery on Monday and I was out of the hospital the next day and then went
back to school on Friday.
>> 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.
♪♪
>> 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.
>> 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 exactly on the same medication and then later the neurologists will start to withdraw those
drugs based on their symptoms.
>> 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.
>> 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.
♪♪
>> 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.
>> So it's been two years since my surgery and I'm doing excellent.
>> 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.
>> It is awfully gratifying to see someone get such a good result and we hope for that
result with every patient.
>> 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.