CMT-D Episode 5 – Childhood and Diagnosis

hey guys it’s me Hezett this is my fifth video on charcot-marie-tooth disease which is the disease I was gifted with since birth and has nothing to do with my Charcots, my Maries, or my tooths so yeah I think this video is going to be about my childhood with charcot-marie-tooth disease and my diagnosis because those things are a part of everybody’s life and a lot of people have not gotten a diagnosis for charcot-marie-tooth disease a lot of them probably have no idea that they have it a lot of people have a lot of problems and don’t know if they have it this disease causes quite a bit of misdiagnosis and other problems like that so I’m just going to talk about my experience with how I got diagnosed and my childhood and all of that stuff so this might be a kind of long video but I’m gonna do it anyway so I was born to awesome parents and my mother has charcot-marie-tooth disease she didn’t know that she had charcot-marie-tooth disease her father had it and he was in fairly rough shape it seems he had a cane by the time he was 40 he used to fall over quite a bit and he had like very shaky hands all the time however he was also quite the drinker so basically it was very easy for my mom’s side of the family to just kind of dismiss the whole thing is like well he’s had too much to drink he’s drunk you know like he’s he’s a business owner he worked very hard running a store and he had like he had four daughters and a wife and a business to run and you know Scotland you know so he just kind of dealt with a lot of his probably pain I don’t we’ve no idea how you know how much CMT he had my mom says that his feet were pretty like messed up like my feet look a bit like a roller coaster I think but my mom says his feet were like way worse and like I said by the time he was 40 he was walking with the cane and I only use a cane in the winter and Scotland wasn’t icy Slippery like he wouldn’t need a came to prevent himself from falling just as winter he was decaying all the time I feel like I’m getting off on a tangent here so so anyway so I was born and nobody knew anything was wrong with me at all including myself and I had great parents and I had a big backyard and I had a lot of friends kind of I mean I got bullied too because I was skinny and the slowest runner and just the slowest kid and like really crappy at sports and I was the last chosen pretty much every single time for a team event but I still participated a hundred percent because there is nothing wrong with me and why the heck wouldn’t I you know and my parents were hard-working people so they had a house and they had the hindsight to educate their children as much as they could so I was a pretty smart kid in my school because my parents put a lot more effort into teaching me after hours at school than you know sad to say quite a few other people’s parents in that part of town but when I was 10 my parents decided to build a house so we moved my family moved to the other side of the city which meant my squirrel changed so I went from being like one of the smarter kids in my class don’t have a stupidest kids in my class because all of these kids had parents who are both hardworking professional people they had their own houses they had you know the hindsight to afford books and education and think their kisseth the librarian signed them up for extracurricular activities so I changed schools when I was 10 years old and and I was still the slowest kid and I’m still like the weakest kid and the worst runner there is another kid in my class who had Down syndrome and I made friends with her a group of us made friends with her and we were quite tight as a group and at that point there was somebody who ran a little bit slower than me so you know from the time I was 10 onwards nobody was really focused on me and like the fact that I was like skinny and looked like I should be quick as a whip but I was like the worst runner and again I would be like the last or second last person chosen but it kind of even things out to have a girl with Down syndrome on the other team and then me you know because we were both fairly cool in terms of athletics and I still think it’s kind of weird that nobody picked up on the fact that you know why am i running so slow it’s not like I wanted to be in last place every single time and track and field meet would happen and I would basically hide for the day I would tell my parents I’m not going I remember faking that I was sick I remember distinctly doing that I remember so but then I went through high school and I didn’t have to do anything athletically gymnastic at all but I’m still the slowest kid still short still weak still thin and kids started telling me that maybe I was anorexic which was absolutely not true I was just really thin and I used a lot of like energy and I had a high metabolism and I mean I could eat like a 12-inch Subway sandwich no problem for lunch and still be hungry by like 3:30 that was nothing for me because I was using all that energy to like keep myself trying to keep up with everybody else it was just like they’re just going about their day they’re not focused on trying to you know be the fastest or like hurry or be quick they’re just like sauntering from one class to the other class and I was almost always the last kid out of most of my classes because it took a long time for me to close up my books that get them into my backpack and do all that stuff and then walk down the hallway and maybe go to my locker because I forgot something because you know I’ve got like these other thoughts in my head like I’m being stabbed all over why am I so weak why am I so slow I thought about that a lot and I have to think that that probably stifled my academic success because I barely graduated in three years I mean I did graduate but not with honors and I tried I tried I tried I tried so then I got out of high school and I’m still skinny and weak and slow and basically physically useless but I had a paper route and I had a couple other jobs physically manual I worked at a toy store and I worked at a coffee shop and I worked I worked a few other places I moved to Toronto I worked at a frozen pizza crusts factory business and I worked at a at a like a fruit and vegetable packing plant you know and those weren’t easy jobs but I did them because there’s nothing wrong with me why would I have a problem with that you know and I’m sure that I worked like two or three times harder than everybody else just stay like a float but that’s how it is so time kept on progressing and like around the time I got out of high school like I started really thinking like okay there’s got to be something going on here like I know my grandfather had this condition where he was weak and shaky and he had a cane and like my balance is never good I spent like a year or two trying to learn how to skateboard and it’s just not in my genetic makeup I cannot do it can’t do it it’s never gonna happen I would still like to but I think I would need like ski poles for my skateboard and then I would know it’s a bad idea that idea I cannot skateboard can’t ski can’t skate can’t rollerblade that was a disaster yeah so I don’t know I graduated I moved to Toronto I came back here and yes I started I asked my mother like is it possible I have the same disease that my grandfather had because he was so weak and you know he had struggles with things like his balance and I felt the same way and she just said no because I’m fine and I’m a nurse and I’ve been a nurse all these years and there’s no problem with me so there wouldn’t be any problem with you it’s totally okay don’t worry about it and that was easy to dismiss because I mean my mom had kind of funny-looking feet and my feet were kind of looking a little bit funny but I would just kind of think okay well her feet look like that and my feet look like this and she’s fine then I’m fine too and that’s that’s it so at some point though I was having these stabbing pains all over me all the time and they weren’t going away and like I had completely accepted the fact that I am just a weak tiny frail feeble thin slender person it’s just the way it is doesn’t mean I’m diseased just means that I’m a little bit different and that’s fine my mom is shorter than me and I’m weak and that’s that’s fine I went to my friend’s house and I had a really bad stabbing pain and I said ow and she said what and I told her you know it’s just one of those stabbing pains that you get because I figured that I’m just not dealing with these things so well but everybody else has the exact same thing because I’m normal and she said no that’s not normal and you should probably see a doctor I don’t really have that at all it’s weird so I went to my doctor and I told her what was going on and she just totally just dismissed me completely and told me was all in my head so you know basically treated me like I was just looking for a free ride or drugs you know and that kind of like worried me because she was a really good doctor and I believed everything she said so I went home and I researched a whole bunch of stuff I mean I spent like two or three years researching my condition okay and I never found anything back then that said anything about random stabbing paints all over the body I couldn’t find anything about that I found things about stabbing pains in the head and stabbing pains in the back and just stabbing pains in one concentrated area all the time which would absolutely drive anybody incredibly crazy but mine are just everywhere I have nerves and like there’s basically no documentation anywhere really online about this not in like any kind of like conformational way that it’s like yes this is the thing that happens there’s a name for this I mean basically it’s just near alger two or three years I spent researching all of these conditions that I thought I might possibly have Friedreich’s ataxia multiple sclerosis ALS fibromyalgia chronic fatigue syndrome yeah AOS just so many all of these things I thought maybe for a while I had neurosyphilis but I’ve never had anything like that at all and just all of these things I thought I might have to because stabbing pains were sometimes a symptom or sometimes there would be a few other symptoms that I thought yeah that’s kind of me you know maybe but I never really got an answer I just got more frustrated and more concerned like if this is all in my head how do I get it out of my head and I couldn’t figure that out and it that was that was not mentally healthy for me because I started to think okay I either have a brand new disease nobody’s ever heard of before or I’m absolutely crazy so at some point I went into my doctor and I demanded to see a neurologist and she thought that I was completely nuts by then before this somebody who close to me had taken their own life and it really kind of ruined my whole world for like six months or something but when that happened my stabbing pains got significantly worse I mean it was like it was like somebody cranked up my pain by about ten times so it was really bad and I remember taking my mom to go see the doctor because like I couldn’t even like talk I was believed because my ex I’d killed himself and to make things worse my the only person who could do anything about my stabbing pains was the one person who really didn’t believe me by this point everybody else knew that I had these stabbing pains and I had no diagnosis and my mom went in and she and I couldn’t talk I was just crying because I was so messed up from like everything that had happened and the pain it was like a big mess and she told my doctor and the doctor just kind of looked at me and she gave me a prescription for antidepressants and then she gave me a list of psychologists that I could go and talk to and she didn’t like address the pain at all and I didn’t even want like a drug for the pain I just wanted some answers I wanted like verification that I am NOT crazy I wanted to know what was going on why do I have this pain so the fact that she dismissed me that way really angered me and it made me want to take the pills for anti depression because of her and it made me want to go talk to us to a psychiatrist or whoever about my doctor but I didn’t do that because I know that people have been dealing with like natural death for like a really long time so I figured like I’ll just get over this I’m not taking all these pharmaceutical meds I don’t think that’s a good idea and I still want to know what’s wrong with me the last thing I wanted to start other problems by starting a pharmaceutical drug it’s really not my style you know so yes at some point I went in and I demanded to see a neurologist because I had been researching enough and I realized that neurologists are people who deal with nerve stuff and at this point I had ruled out that I had a bone disease because the pain isn’t in my bones I will ruled out that it was a muscle disease because it’s not muscle pain that I have like I get stabbing pains in my earlobes and the tip of my nose and other places that don’t have any bones or anything like that so I figured that it was a neurologist that I should see so I went into my doctor’s office and I said I need to see a neurologist and she kind of like humored me and she was like yeah okay whatever weirdo I was a neuter neurologist and then we’ll just confirm that you’re crazy she didn’t say any of these things but that’s exactly how it felt so six months later I got a phone call and I got an appointment for a neurologist I went in to see him and of course I took my mom because that’s just how these things go because she was worried about me being crazy and who knows maybe I was about to be committed who knows all right so I go in there and the doctor is reading over my file and I ask him what does it say and he said that it says I’m complaining about pain in my legs which was kind of ridiculous because I was complaining about pain everywhere not just my legs so I don’t really know why my doctor would have said pain in the legs but anyway he got finished reading the thing and then he came over to me and he just said take off your shoes and socks and now I’ve got stabbing pains all over my body I don’t have like why would I take off my shoes and socks you know I just thought that was kind of weird but I obliged I took them off and he looked at my feet like quite carefully like more carefully than anybody’s ever looked at my feet before and he said something about the shape of my feet and I just nonchalantly said oh if you think that’s something you should see my mom’s feet because my mom’s feet are tiny so they’re quite similar to my feet at this point but back then my mom’s feet were a little bit more advanced in like the progression than my feet so I went my god her because thankfully she was right out in the office if she came in and the neurologist said take off your shoes and socks my mother thought this was very strained what she did and he looked at her feet and then he took like seriously he took less than a minute to diagnose my mother and I with charcot-marie-tooth disease and my first impression of course was but you looked at my feet you didn’t look at my mouth how do I have a tooth disease if you look at my feet I don’t get it and I made him write it down I made him write down the words of charcot-marie-tooth disease because otherwise I’m not sure that I would have been able to fight it online when I got home but I knew that I had something wrong with me so getting a solid diagnosis was like kind of like an achievement you know like hey congratulations you’re not just like making it all up it’s not all in your head and so you’re not crazy you have a real thing so I went home and I looked up the symptoms of this disease and it was like a grocery checklist like every single symptom pretty much I had every single one of them I couldn’t believe it it was like a huge revelation Hey look there’s my cat I pixel yo me out hi have you been so after I got diagnosed by him I had to go in for like formal testing which is like medieval torture there’s an EMG and there is a nerve velocity conduction test or a nerve conduction velocity tests I think it’s a nerve velocity conduction test one of the two but they put like these like electrodes on like parts of your limbs and then they like blast like a shot of electricity and it like makes your hand shake and the problem if you’ve got CMT is that the machines aren’t going to pick up a really strong reading because you’re already like you’ve got like nerves that are dying and your muscles are dying so like the electrical impulse going from my hand up to my arm should be about 45 to 50 but last time I had it checked was like a decade ago it was like 19 to 20 so so it takes me a lot more effort to get things done because my electrical impulses in my body are just skewed and that’s the way that it is but yeah I definitely got diagnosed for sure with a condition that I did not get I didn’t get any misdiagnosis besides just completely outright dismissed like there’s nothing wrong with you and you know go run a relay race but yeah so it was nice to get it out series and it was really nice to get diagnosed but the problem is that there’s really not much we can do with that besides like give me leg braces or get me a cane or put me in all these awful pharmaceutical drugs which as I’ve already previously stated I really am NOT a fan of I tried a few they all made me sick I’ll make another episode on that I’m gonna go but yeah that’s my story on diagnosis and you know pay attention cuz there might be a kid who has no idea that they have charcot-marie-tooth disease who has charcot-marie-tooth disease and if they knew that they had it probably make their life a lot better like if I had known earlier I would have chosen like a really good like University course to take and then I would be doing something besides what I’m doing right now so that might be terrible but I might not be poor so anyway guys I hope you liked my video and please feel free to subscribe and comment didn’t tell me how you feel and if you have charcot-marie-tooth disease I would love to make new friends so yeah thanks guys you you

7 thoughts on “CMT-D Episode 5 – Childhood and Diagnosis

  • I think your doctor wrote "Pains in your legs" on the neurology referral to somehow shame you. What a terrible doctor; soooo glad you FINALLY got the solid diagnosis. Was your doctor apologetic at all after the diagnosis if BOTH yourself and your mom? Some people should not practice medicine. Talking about pharmaceuticals, my mother became sick from drugs to treat Parkinson's disease. I was with her at the neurologist and since she was too afraid to say it, I told him that she has a cannabis prescription and it helps with the tremors. This young man worded things very carefully, as he could not prescribe it for Parkinson's at the time. He basically said that if it is helping her, he is not opposed to it at all. I have been taking antidepressants for 13 years and would love to stop taking them someday, but I am afraid to. It would be nice to be pharmaceutical-free some day! Oh but I think I am stuck taking the stupid thyroid drug though. I have lost a significant amount of weight since starting them. Dang faulty thyroid! Anyway back to the video, I told mom that you just can't win. You struggled with this all your life and now you are stuck with people asking you about the disorder of your teeth, where the name of the disease is after three doctors who discovered it… Also, kids can be so mean, bullying others for not being able to run, etc. 🙁

  • Thank you for sharing your story! It is never easy to learn the hard way that doctors make mistakes. Glad you found an experienced neurologist to help with some answers. (I have CMT Type 1A but many family members have it as well, so it was never a mystery.)

  • You're adorable telling your tough story with a sense of humor and a smile.
    I saw my brother go through a lot of the same. Some of it makes me want to cry.

  • Hi 😁I came from Joanna's channel 💗I am
    so glad you found a diagnosis but it sucks there is not much they can do to reduce your weakness and pain. I also battle a chronic illness(Trigeminal Neuralgia) which is not common. It changes everything in your life. I think it's amazing you create such beautiful art despite your pain. You and your quilts are incredible 💕💕

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