Januari 07, 2017
>> when i was in 7th grade -- when the symptomswere really kicking in, that's when the bullying really started. my friends thought it wasfunny that i would fall easily and it eventually caught on to the whole grade that if you gaveme a little push, i would fall over and this to boys was highly amusing. >> i think the worst part of this whole episodeis that he had to endure 18 months pre-diagnosis and broke my heart that he had to endure thaton his own. >> the problem with myasthenia is that itcan be hard to diagnose and the symptoms are just weakness or this facial weakness canbe ignored or attributed to something else like laziness or clumsiness and so we oftensee a delay in diagnosis which is actually
something we're trying to help prevent. ♪♪ >> myasthenia gravis is an autoimmune disorderand what this means is that the immune system is overactive. somehow the body gets trickedinto attacking the neuromuscular junction -- the connection between the nerve and muscleas if it were foreign or something to be gotten rid of. >> what causes this problem is a mistake inthe immune system and the body makes antibodies that are specific against what we call themotor endplate, which is just the wiring between the nerves and the muscles. there's a littlejunction there and inside there there's a
chemical transmitter that comes out of thenerve and goes onto the endplate here and there's receptors there for that chemicaltransmitter. this antibody binds to that receptor and blocks that. it's like cutting a telephoneline. >> well myasthenia gravis can present in twoforms. there is an ocular form with the eyelid drooping and the eye misalignment and thenthere'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 peoplein their 70s and 80s can develop it for the first time.
>> the reason they come to a place like children'shospital of philadelphia is to see experts who have a vast knowledge of these conditionswho've seen many, many patients with that disorder and who have a lot of experiencewith the diagnosis and management. >> what we noticed in alexander was as he'sgrowing in height, he was a bit awkward. he would bump into you occasionally, then we noticedthat he didn't want to smile for any photographs. >> i think a lot of people do take smilingfor granted because when i couldn't smile, i definitely felt ashamed. when people wouldtalk to me i'd be like ah i want to smile at you -- i wanna make myself welcome for youto talk to me and i just couldn't. >> he was not fluid in his movements. butsometimes you put it down to awkwardness of
an adolescent boy. we had no idea it couldbe anything else. >> it was a gradual process. it got graduallyworse. i would walk upstairs and suddenly my knees would give out or i would fall andi 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 finda diagnosis. >> to establish a diagnosis quickly is crucialin myasthenia gravis because there is damage occurring at the junction between the nerveand muscle throughout the course of the disease
and without treatment, this damage eventuallybecomes permanent. when we look at treating myasthenia, we havemany options and our goal is for somebody to have a completely normal life and not knowthat they have myasthenia whatsoever. >> we are very aggressive with the treatmentof patients with myasthenia because we feel that earlier the patients are treated, thebetter off they do. >> the thymus is an organ in the chest. thethymus sits right here underneath the breastbone, can extend all the way up to the neck andextends 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 removethe thymus because we think that it helps
us use less medication and reduces the riskin 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 thymusanymore that taking out the thymus does affect the immune system in such a way that it helpsthe myasthenia improve. (all right, so i'll see you guys in the recovery room afterwards.) >> so we make three small incisions on thechest here and through those three incisions we'll -- in one we'll place the camera -- andin two others we'll put very small tools that let us grasp and dissect. the thoracoscopicmethods weren't really available to children except for the last you know six years ormaybe even the last decade and instead a thymectomy
in a child usually involved a big incisionfrom the notch of the neck and splitting the breast bone like open heart surgery. wellthe benefits of the thoracoscopic approach with the tiny incisions are gigantic causewe sneak through the spaces between the ribs. we don't have to cut any bone. we don't divideany 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 hospitalin most cases. >> so i had surgery on monday and i was outof the hospital the next day and then went back to school on friday. >> and like anything in life, practice makesperfect. we know that we have one of the largest
if not the largest series of cases in northamerica and maybe in the world. we're very, very experienced and have an established trackrecord from doing this procedure very safely. >> we are very fortunate to be living so closeto such an excellent facility as chop and right from the beginning, and initially you'rereally very traumatized by the fact that there's something wrong with your child yet everyoneseemed 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 willgive alexander a chance to beat this disease. >> well the improvement after the thymectomycan be dramatic. in the best cases within a few months, they may have complete remissionof the disease and certainly some improvement
in their weakness even as the medicationsare coming off but that's not everyone. and it can take weeks, months or years beforethe effect is seen and in some they'll never get any improvement so as soon as the operationis over the patients can expect to just start back up exactly on the same medication and then laterthe neurologists will start to withdraw those drugs based on their symptoms. >> remission is a tricky term in myastheniabecause what we hope is that the disease is never going to come back and that the personwill remain symptom free however once someone's immune system has learned how to attack thenerve muscle junction it knows how to do that forever and it can happen at any point. wehave patients who become symptom free and
are fine for years then come back with exactlythe same symptoms again two years later, 10 years later and having myasthenia is a lifelongdisease. >> we don't promise that people will get betterby having their thymus taken out. what we can promise is that their odds of gettingbetter are improved. >> once the child has reached a period ofstability, typically we just do annual follow-ups to make sure the child's doing okay. thatthere aren't new symptoms. our goal is to make sure that they have no or very littlesymptoms for the rest of their life so they can lead normal lives. >> so it's been two years since my surgeryand i'm doing excellent.
>> to be able to get him on treatment wherethose symptoms improved and he was actually able to return to the activities that he usuallydid was really gratifying because i saw him go back to be a thriving teenager. >> it is awfully gratifying to see someoneget such a good result and we hope for that result with every patient. >> he would make us laugh because he wouldcome in -- check his smile in the mirror just to make sure it's still workin'. it wouldgive me a lump in my throat -- it still does to this day to see him smile. alexander: my sports has come back. i'm nowone of the most athletic kids in my high school
and i'm -- people like me better because ican smile at them -- i can talk to them. i don't hide away from social scenes and itreally does feel like a different person.
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