How I Got My CMT Diagnosis! (Charcot Marie Tooth Disease)

[@charliecece9226]

I'm 17 and have my appointment tomorrow, I'm so scared but this video has helped hearing somebody else's story. Thankyou for making it x

[@lightdenied]

great story. My diagnosis took under a year, but you could say my mom's took 67! She had orthopedic shoes in the 1950s USA and has had a little trouble walking all her life. We (my mom, sister and I) all have high arches. I'm glad you say it's ok to talk about it. I keep mentioning it!

[@anisebbbbs]

Hey Sam- my son was referred to ortho bc I noticed his ankles contracted- ( hf asd, so toe walking was his normal, more focussed on behaviours at the time) waited dt covid. Went for our consult, “ several red flags” for a neurological cause behind his toe walking,so referee for mri, and tried casting although the surgeon right off the hop did not expect it to be successful. He then went through Botox and serial casting, and was referred for a mri. During follow up three months post casting, I informed his surgeon that I had noticed his walking was worse post casting, he was falling more, walking into things more often. His toes are also curled, and his hamstrings are super tight as well. Wore AFO,s with wedge and hinge after casting, At his virtual follow up with ortho 3 months post casting- he decided to refer to neuro after watching him walk via zoom at home, and before his mri. We are in Canada, and healthcare is free- but unless you’re dying you may have to wait. ( 10+ months later now). The neuro he is seeing specializes in neuro muscular- and is the lead researcher in nmd. He was then scheduled in for hoke procedure on his tendons. He’s having muscle atrophy in his calves since. He’s in another set of AFO’s post surgery and six weeks post casting. We’re the neuro in a month. I haven’t had the guts to ask our ortho surgeon what he thinks the neuro cause could be. So I google myself into different scenarios. Cmt being one of them. I guess that I’m asking you, what were your symptoms like when you were 10? I have been looking for videos and articles from a patients/ parents perspective on neuro muscular conditions- I’ve been looking to see my son in someone. I haven’t found anything relatable. Everything seems to be explaining the science behind- but not the actual human behind the diagnosis. Anyway, thanks for sharing your life.

[@LAGoodz]

Hey Sam, so pleased to see your video! Thank you for sharing. Like yourself, I guess I lived with the early signs of CMT since adolescence - things like numb but painful feet. I’m 42 now, but a few years ago I became really flat footed and was constantly falling and tripping over. My knees really suffered as a result. I pretty much bottled it up and hid it from family and friends, but it got to the point where I couldn’t get to work. Luckily I got referred to Neurological team at Addenbrooke’s hospital in Cambridge, they were fantastic. Like yourself, I was diagnosed through genetic test. I guess we’re lucky we have that option. My consultant explained that wasn’t possible to do 20 years ago. I initially struggled to walk and relied on a wheelchair, but since having my AFOs (called BlueRockers!) I’m able to walk again and build up my leg strength. Physio is key in my experience. Thanks again, for posting! Luke

[@SamBosworthMusic]

Anthony 1976 hey bud, thanks for your comment. Alot of people on a Facebook group I'm on (cmt friends UK if you're interesteda) have afos, they've never even been suggested to me but I'll have to ask about them. Thanks for sharing your story with me, hope you're doing good!

[@LAGoodz]

Sam Bosworth hi Sam, thanks for your reply and for letting me know about the FB group! The AFOs were game changers mate. My wheelchair’s now collecting dust and I only use a crutch for longer distances. Ask your Doc or Neurologist to refer you to an Orthotist at a good hospital with an Appliance Services dept. Take care, I’m following your channel now 😉👍

[@asiathomas6646]

Im 15 years old, i was diagnosed when i was 6 years old. I felt strong when I watched this video, I was down lately not being able to walk normal like my friends/classmates, lack of confidence, gained weight. I just got my new braces yesterday, really hard to walk but i’ll get there in some time, I’m from the Philippines, I got cmt from my grandfathers genes, he’s german. I want to be a artist some day when I grow up 😁 Great vid !

[@lorigraff9656]

I have CMT 1A and no one understands. Except if you have this. My neurologist said no pain with this disease. So glad he knows.

[@prestonpernell5266]

Every step painful

[@smit1231]

I'm 53 and finally got a definitive diagnosis of CMT. After years of tests, different doctors with different opinions, finally the official diagnosis.

[@speedking4951]

I pray you all recover and get well very soon. all the support.

[@WDBsirLocksight]

My journey was zig-zaggy and still no diagnoses. I have another rare genetic disturbance. I don't qualify for CMT genetic dx but have similar muscles and ankle observations. The orthopedic doctor said 80% I had CMT (hypertonicity of the shin muscles, high arch/foot deformity, no claw feet) but the neurologist said no. Neurologist just said I have mechanical sequelae. Gave prn for orthotics. Then the orthopedic specialist got frustrated and wouldn't do the tendon transfer. He also wondered if I had spinal implication. Well....I'm also diagnosed with congenital spinal stenosis, some odd manifestation of kyphosis/lordosis from the spinal specialist. I have some pattern of spacticity according to the physiatrist but physiotherapists dont think much. 🤷‍♂️🤷‍♂️🤷‍♂️🤷‍♂️ I guess I'll have to start from zero again cuz I lost my orthopedic specialist and my physiatrists. Seen the one neuromuscular specialist in my area. 🤷‍♂️

[@robertgarcia3872]

It was hard growing up with it but it’s a lot harder when you get older

[@delrosio209]

I always knew I had " something" as a kid, but never knew what it was. I always fell, but it wasn't till I had a fatal fall back in 2005 that the doctor said I had CMT, but he never gave me the name, he just said " you have an inherited" desease. He also tested my bones and also said I have the bones of a 70 year old woman and terribly low muscle mass. Now currently, I'm told I have Scoliosis due to my CMT.

[@raykemry954]

I'm 56 got a form of type 2 CMT onset about 15 years ago ended up in a chair . Had symptoms all my life worked for family they put up with my inability. I was always forced and tested to accomplish things we did for a living . Dad built house's and operated heavy equipment. I always new something was wrong.i had lots of difficult days.and loads of pain. It is on setting again and I am being sent back for more testing.cmt makes every day new challenges. Hang in there and always take on the days challenges. From OREGON

[@GeierArdrey]

nice to hear from you again! :) the diagnosis in my case was pretty fast, it took a year or so. (at the point where i was at the neurologist) the Doctor first took a look at my foot and my reflexes, a little later I have done the electric thing and a mrt. After that they took my blood and told me about the suspicion of cmt and the labor confirmed it. But before i got to the neurologist i also was at the orthopaedist, because they thought the same as your doctor and to some other ppl due to my scoliosis. At least I tokk them 18 years to find out :) BTW how old are you now?

[@SamBosworthMusic]

Thanks buddy :) I haven't been so well with my CMT the past month so haven't been able to post much but feeling a little better now so trying to work hard and get some new videos out :) If you think of anything else you'd like me to talk about let me know! And super interesting to hear about your diagnosis, it's definitely hard to find your way to the right people but when you do it's crazy how quick they can tell you what you have. I'm 25 now, 26 this year :)

[@WarrenRCG]

Hi there, from a fellow CMTer. I hope you are well.

[@shouge4]

Good video.. Im 54,was 52 i guess when i noticed both my legs were weak,and i kept tripping.Ignored it,but got that cattle prod thingy on both legs,and the needles in me.. I still got the report,as this has been 5 months ago since the dr.. Dont want cattle prods again lol.... But it seems to have alot of different effects on people.. i have no pain,but the nerve or whatever that runs up your leg by your leg bone,has sunken in some.. Right leg was worse than left leg when cattle prodded .. LOL... So all i have is drop foot,and skinnier legs.. Hard to get up if im on my knees,and cant run or jog anymore.. Also got to lift kick my right foot once in awhile to walk.. But i worked out yesterday on an eliptical.. Boy that was hard.. So going to do it every day on eliptical,and every other day a workout and that... Seemed like workout helped a little.. Might try that cbd hemp oil too..Any one tried that at all? I hate to have to smoke part of a joint all day long haha..

[@delrosio209]

I have had a biopsy done.

[@ichimarutetsu]

I think I may have cmt as well. My father says he has cmtx( undiagnosed) but he got it from his father, it can't be that. I wear a full ace brace on one ankle while working and walk like a damn penguin due to my hips. I get nerve pain in my hands when I over do things like using an icecream scoop, which is a lot as I am a cook and use my scoops for everything. Due to healthcare in the US I 1- can't afford to have proper testing done, 2- can't even afford the spike in insurance IF I get a proper diagnosis, and 3- finding a doctor with free state healthcare is almost impossible Turned 27 this year and was always told by my father that there was NO chance I would have the disease but as I get older I see more of the symptoms.

[@nicoledonnini3798]

Hello! Thanks so much for posting about CMT. My mom has CMT; she was diagnosed with it around 55 or so. Her toes have clawed and twisted. She has some difficulty walking because she can't feel much from the knee down. I'm 40 and have just been diagnosed with peripheral neuropathy. My neurologist said that I don't have the "typical" CMT feet. I'm on gabepentin for the pain - I have terrible pins/needles/burning all day long and at night. My feet and calves are numb. I can't walk around without some sort of cushy shoe. They did the electrical test on my hands and feet. I was told I have slow reactions, and that it's probably a small fiber neuropathy in my feet and carpel tunnel in my hands. I don't have any clawing or high/flat arches. But lately, my gabepentin isn't working as well and my toes have began slowly moving by themselves and twitching. ....after all of this rambling - my question is, how long did it take for your feet to start changing shape? Did you have any of the same symptoms I have? I'm thinking maybe I should push for an X-ray or scan of my back to make sure it isn't a pinched nerve or slipped disk. ? My neurologist hasn't offered much information except increasing my medication. ...sorry for the long post. Thanks!!

[@GeierArdrey]

Nicole Donnini hey :) in general the symptoms can be different. in my case i have no feelings at all in my feet and 5-10 cm upwards and also no pain. My feetshape began to move with 10years and with that i slowly lost sensivity until i recognized it when i was 16 or 17 that i have no sensivity at all in my feets. Now (18y.o.) I have the typical cmt feets but at this point i am quiet well in walking :) Cmt is slowly progressiv and can also affect ur hands, my "little finger" and ring finger is also loosing sensivity but my life is fine :) i am a bit shaking and in comperisson very slowly in running... at all i can not speak for sam but i hope i could give you another point of view :) greetings from Germany

[@CHEBOYKA]

+Luca Maaß Hey, du sprichst Deutsch? Ich bin 20 und mich beschäftigt auch das Thema CMT. Wenn du Bock hast schreib mir ne Nachricht :)

[@lightdenied]

sounds CMT-ish to me! I had onset of sensory symptoms at age 37, diagnosed the same year with slow conduction velocities. My mom and sister have done genetic testing; we have 1A. I've always had high arches but my toes are getting hammered now. If your mom has it and you have all these symptoms, I would suspect a late onset case. Can you get a second opinion?

[@Ken-nm2du]

Do you wear braces

[@stpaulfinest7197]

That was very rude what he said to you how dare he👿. Thats what I have CMT1A the muscle spams kills me and the neuropathy. I can’t take pain meds.

[@nynick7]

this video helped me a lot, I'm fairly similar- I've had issues since childhood and only at 25 did I find out by a family members diagnosis. unfortunately living in the USA with medical issues does suck. keeping my head up now. I think CBD oil is the best thing to help me personally with the emotional and physically pain associated with it.

[@ichimarutetsu]

I don't know what state you live in so I don't know if it is legal, but look into kratom. I buy it from Kraken Kratom as a powder and fill size00 pill capsules and take 3 twice a day. It REALLY helps with the pain with no addictive or adverse side effects.

[@fumblztv8979]

I was 25 the first time I heard the words Charcot Marie Tooth.

[@delrosio209]

CMTA.org also 😐

[@delrosio209]

Try 41 years 😂