After many many months of trying to find out why my eldest handsome 16 year old son has developed scoliosis, muscle atrophy, losing weight and foot drop, a nerve conduction study and EMG revealed he has nerve damage in his arms and legs. Neurologist suspects hereditary poly neuropathy aka CMT.
We are shocked and devastated. It’s a huge curveball, no one in my family appears to have this. Only that both my sister and Dad suffer from severe cramps but that could be totally unrelated. I blame my own little issues (occasional cold/burning hands and feet) with going through the menopause with fluctuating oestrogen and being anemic. (We are all over 50 fit and active and no real CMT symptoms so it doesn’t make sense).
My son is a grade 7 musician and about to start college and looking forward to driving lessons next year.
We agreed to a genetic blood test but upon reflection, I fear in doing so will close doors regarding occupation, insurance, driving and discovering who passed it on to him. We have a younger son, who is into sport and music so feeling a double whammy is around the corner. Both my boys are born as a result of IVF and are fit and active with no health issues. Except this year in April when my eldest presented with foot drop.
With Covid stopping access to physiotherapists I googled exercises for foot drop. After a week he has 95% dorsiflexion back. Is this promising or will foot drop rear it’s head again? His scoliosis is slight at just 8 degrees, is it likely to get worse?
Sorry for being so dramatic. I feel like my whole world has fallen apart. Any advice, support or reassurance would be most appreciated.
Kind regards.
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KayJayTee
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Hi sorry to hear your worries about cmt and all that goes with it,I have hereditary CMT and has passed this on to my children, both my girls have problems with their feet And hands and like myself have had numerous operations in the past,I also have siblings with this too.
I have dropped foot which I manage with a brace and I drive an automatic car my both girls drive manual cars we are now waiting to hear about my granddaughter and I know by looking at her feet she will inherit this awful problem as well and that makes me sad too.
I hope your son will be ok and he will continue with his career there is help out there but unfortunately with the current situation with Covid appointments are still not up and running as normal.
It is an awful disease with so many differing symptoms, progression and disability. How it can appear from nowhere and then discover other family members may have it too must be so difficult to get your head around. I know I am struggling to understand it as myself and non of my family seem to have CMT.
It is interesting to read that your daughters have CMT and are able to drive manual cars. Were they diagnosed before learning to drive? Do they have to have 3 yearly assessments? Having the ability to be independent is what we all hope for.
My son is desperate to drive. Prior to this possible CMT diagnosis he has been doing young drivers courses since the age of 10 and has no problem driving a manual car.
He will be applying for a provisional license next year and but does a diagnosis change things for his driving now and in the future?
I suggest if he doesn't have life insurance get it before diagnosed might be too late if the want a medical. It should not effect his driving at all he will adjust to his drop foot etc through the years dont read more into it other than what's right in front of you . Sometimes it progresses fast then st times nothing its manageable and livable he will adjust to how he needs to walk or hold something . Your going to have to sit back and let him handle it dont dwell on it or make it seem worse than it is. Sorry if I sound harsh but his body adjusts as he grows and with symptoms lots of people will not even notice. We don't say or reveal much unless we have to it's not a decanting condition that's going to cause harm to anyone else . If you make it know then there will be hoops to jump through rest of his life do not believe or read everything you find on the internet you will go crazy. Stay with what he has for symptoms and leave it at that.
Thanks for your wise words Ladywonder. 🙏 I will look into life insurance.
You don’t sound harsh at all, in fact, I prefer fighting talk as it’s come from a place of inner strength and experience. That’s a good point about sitting back, letting him handle it and don’t dwell and make it worse. Me cracking under the pressure will have a negative effect for sure. I do look for hope in a sea of perceived hopelessness. Writing on here is a way of putting my worries ‘out there’. I won’t tell my son my worst fears, hence why I am here letting off steam.
I am just grieving for the situation. I feel helpless, scared and unprepared. I know I will have to dig deep, give him tough love and focus on the here and now but the mother in me naturally wants to wrap him up in cotton wool, fix it and protect him. It’s going to take time to fully accept it. Hopefully in the process I will have found the tools and experience to know how to cope with each adjustment.
What I have taken away from this so far, is the amazing ability in which you all seem to have with living with CMT. This is one tough community! I read a quote somewhere that said ‘keep on truckin’ on’
At the moment I don’t know if I am on the outside looking in, or that I am also on the inside trying to look out.
I have children of my own I see some traits of cmt in them but we leave it as we/I already know what it is and how to deal with it I read alot about surgeries I have found I just deal with my drop feet yes I trip alot very poor balance hands cramp dont like cold battle to work somedays but I'm here I'm breathing my kids are grown have good jobs living life just had first grandchild. Life is good. Someone out there is always worse than I am and you need to stay positive there is no blaming or if I or what ifs. It is what it is no one has control. We can follow ours back to 2 grandmothers it was never talked about in my family until me and my siblings were diagnosed I believe I was 17 . So just let your son deal with it dont point things out to him or ask him questions if he wants to tell you he will if not that's fine too. Any questions feel free to ask.
Wow! You have such amazing strength and positivity. Your story and wisdom is exactly what I needed to hear. 🙏 As with all the replies, it’s great there is a support network here.
No I'm from Ontario Canada, just a person who grew up with CMT I'm 54 now have had 2 broken ankles 3 years apart matching set due to weak muscle in ankles takes extra long to heal as your muscle deteriorates quickly when not in use over 8 months first time did a real good one with it hip casted for 13 weeks yadda yadda my 3 children were young then youngest was 3 had hip replacement 3 years ago I was fortunate that I'm walking lost all muscle in it as wait for it was very long and risk of surgery is great because CMT . Now I'm a grandma. Just 6 days ago and that another story you just have to be positive. Medically I dont know much about CMT just what my family and I have experienced over past years. Maybe 40 years for me
I'm so sorry you have been presented with this hugely worrying situation out of the blue.
I'm glad you took the initiative and found the exercises and your son's foot drop has improved so much. If it is CMT then as I understand it he can delay or reduce its effects with the right exercises.
Did the neurologist test him for sensation in his feet and hands? strength? reflexes? balance?
A blood test will involve checking at least the commonest of the genes in which a fault can cause CMT. I understand there are 90-100 genes any of which can be responsible, but only a handful accounts for the majority of cases. The result could take some months to come through.
CMT is typically inherited (with a 50% chance) from an affected parent, but can also occur spontaneously.
The nerve conduction test doesn't confirm CMT but it does show if there is damage - either by nerve-signals being slowed down. or weakened.
Is your son's neurologist approachable? I think you should discuss your concerns about career, driving, etc with him/her.
It is a very good idea to write a list of the questions you want to ask before an appointment. I now make 2 copies and give one to the consultant.
I should have thought that your son's ability to drive a manual car with no problems is a good omen, and he may well be able to continue for years. However if the neurologist has doubts, your son could be referred for a medical driving assessment. (I'm a lot older and had to change to an automatic because I can't feel the pedals).
Unfortunately manual dexterity can also be affected by CMT. So regrettably, in time, this could affect ones ability to play musical instruments.
Essentially the further a message has to travel from (or to) your brain, the greater the weakening, or slowing down of the signal. Eventually this leads to the muscles in the foot and lower leg, and those of the hand and forearm, weakening and wasting. General weight loss is not typically a symptom of CMT, though.
CMT progresses at different rates in different individuals, and can appear as steps down interspersed with plateaus - some of which can last years. Typically progression is slow, so the person may able to adapt as problems get worse or new ones arise.
At least more medical professionals have heard of CMT now, and there is a lot more known about it, and help for people who have it. I remember wondering why I was so outstandingly bad at PE at school - when there was nothing wrong with me.
I hope you will be able to get some answers, and that your son will be able to get help as and when it's needed.
We will continue with the exercises as they seem to have worked a treat. He also has hyper mobility in his knees (they bend back) but he walks knock kneed so will work in that too.
Yes the neurologist tested him for everything. He didn’t say how bad the nerve damage was in his arms and legs (I don’t think I can bear to know right now) the neurologist was very matter of fact, we didn’t feel any hand holding and tba, we really needed a softer approach. Whilst awaiting the gene test, we now feel left on our own. We need counselling and physio for him. Thanks for the advise with writing a list of questions, I shall do that.
The weight loss I think is due to a combination of muscle wasting and a growth spurt. He had lots of blood tests including diabetes, b12, CPK etc. All ok. White blood cell count only slightly out of range but nothing to worry about.
My sons balance is very good and can get up off the floor without holding onto anything. If it wasn’t for the foot drop issue, I don’t think we would’ve been overly worried about him. The spinal surgeon said his scoliosis was mild (this was before a neuropathy issue was picked up).
If my son was born with CMT it’s strange how it’s only started showing itself less than a year ago. Now I am checking my other son (age 12) for symptoms. He is very fit, active and sporty (plays rugby) however, his feet look like he might have CMT too 😰😰 Dilemma, 50/50 chance here, do we stop him from playing rugby? Or just wait and see?
I hope there is a cure found soon for everyone. I read that they have come so close....then the trials are stopped. So very deflating, they looked so promising.
Dont stop them from doing what they are doing and love. They will know when they have to stop their bodies will let them know. I could do lots when I was young and never let CMT stop me it's as they age they will notice balance etc worsen. Until then live life to the fullest dont let nothing stop them. Have they officially told you the diagnosis??
I have CMT 1, my son and daughter were also diagnosed when they were 15, to be honest it didn't occur to me there was anything wrong. My daughter used to fall a lot, my son was quite sporty. My son developed scolliosis at 15 and l only was aware because he complained he wonky if he tucked his shirt in. After consultations he opted not to have a brace fitted. When he walks he looks upright. he is 38 now and has got by well, he does get tired. My daughter now 44 has problems with her feet and wears supports, she opted not to have children. I didntb develope any real symptoms until l was 55, ; brought up 3 children always worked in physical jobs. l started falling and discovered i have drop foot l wear AFO's and they are great my footwear is not great but a small price to pay. My middle son has 3 children and has no signs at all. He is a Podiatrist so in an ideal occupation. The only real advice l can give you is, try not to let your son dwell on his problems concentrate on his future, there is help out there he may not develope any more symptoms. Good luck.
Interesting that both our sons had scoliosis at aged 15. It’s encouraging to hear that he is still walking upright. Sorry to hear your daughter is having problems.
I like your attitude about not dwelling on things. It’s so easy to focus on all the bad stuff. I can’t find much in the way of positive stories on the internet. It does make me very sad though.
I am 51 and have always considered myself in good health. I run regularly. Reading about CMT has made me listen to my own body. Since discovering it, I think I have numbness in my fingers. I always had freezing cold hands and feet (podiatrist thinks I have Raynauds). Then it’s strange how I get burning feet in the summer months. I always put this down to peri-menopause as these are symptoms too. However, I do have a slightly higher than normal arch...but foot prints looks normal.
My sister and Dad have terrible cramps and my sister has RLS. She was convinced it was Parkinson’s related and has been tested every year for many years. Am I potentially looking at a family history here? Hard to say without a blood test and as I am fine, I refuse to have for many reasons.
When you come across an initial diagnosis it can be tough and it may feel like your world's in a tail spin. My advice is to get answers quickly and find out for sure if it is CMT or not. If it is, exercise can play a massive role in managing the disease effectively (based on neural degeneration). I've written a lot of content here about exercise and CMT:
If it is CMT, your best bet is to start early with a stretching and exercise routine and keep this going for as long as possible. Neuropathy results in muscle wasting due to the nerves dying and nothing can currently stop that (actually not true, nandrolone has been shown to be nerve regenerative, but it's controversial so not all doctors are willing to explore this route), so your best bet is to build up as much muscle mass as is possible while the nerves are healthy. This wont impact the degradation of the nerves, but should offset muscle weakness that can occur later on in the disease.
I swear by exercise (I run 5K regularly) but came across conflicting information regarding what you can do muscle training with CMT for my son. I have a Pilates teacher come to my house every week to slowly help him build up his core strength.
I want him to build muscle where he can and will definitely read what you have written on the subject with huge interest.
exercise is the very best thing.never give up,do as much as you can.dont let c.m.t. stop you.c.m.t. affects us all differently even members of the same family.right now there is no cure.[hopefully there will be one day] you just have to get on with life as best you can,try not to let it get you down,I'm seventy now not had much help at all.found everything out for myself.even told them what orthotics [leg braces] i want.iv never had any useful help with any of this .i found out you have to help your self.i over the years i have got much worse balance,weakness,plus lots more.i can still drive with my turbomeds on thank goodness.had to inform the d.v.l.a. but I'm mobile.let your sons be what they want to be ,if theres a problem help them with it .but try not to dwell on it just listen to them if they want to talk about it.like i said it effects us all differently.
years ago i saw a neurologist with my mother [she had c.m.t.] he said he could see i had it to. told me there s nothing that can be done .no cure just get on with your life. at the time i was in my thirties i thought that was harsh ,just to tell me like that.but thats what i did .got on with it.
Everyone’s input is truly invaluable whether it’s from personal experience, symptoms to what you have learned along the way. The thread runs strong here with ‘get on with it’. I see that many of you have such fighting spirit. You have managed to reach seventy and still not CMT beat you.💪
I am glad to hear you’re still able to drive, independence is what I want for my son(s). Also, to be happy, healthy, financially stable and loved.
My son is not yet at the wearing orthotics stage although he was given a boxia ankle support for his foot drop. I am sure he will need them in the future and I will seek further advice from the lovely people here. I have been reading rave reviews regarding Helios braces but they are based in America. Like I said not at that stage just yet...
I take on board what you said about leaving it up to them (sons) to talk about it. I am taking a step back and letting them take the lead but the potential diagnosis may shape their future careers?
don't mind at all.turbomed are to help with foot drop and balance.they are amazing.the first time i put them on i could walk near normal ..first time in my life.they started in i think america . you can get them in uk but you have to tell orthotic dept what you want ... don't be fobbed off. they fit outside your shoe so no pain.there the best.iv had lots of different types all of them hurt like hell cheap and nasty. turbomeds are expensive.but saying that don't let your son have anything like that till he can't walk safely .he may never need anything for years or may never need any thing at all.like i said every one is different. so carry on as you are and look on the good side .
look turbomed s up on your computer for more info.im sure that will be a long time before they'll be needed and by then there my well be something even better .[hope in the future a cure].now that would be amazing.
stretching and any exercise keep moving .hope iv been of help.x
I looked up the turbomeds and they are fantastic. It’s reassuring that there is something like this in the UK if we (or I) should ever need them. Such a great product thanks for the recommendation.
I love your positive attitude towards CMT. I understand it’s a very challenging path for many. I respect that it may be difficult to manage day to day and my son may encounter tough times. But on good days its little wins and gifts of knowledge through shared experiences like this that make it more bearable to deal with.
I have never cried so hard when I learned my son had nerve damage in his arms and legs and was offered no support. I naively thought these things happen to other families. Now the jigsaw is falling into place, I think my sister, my dad and myself have it too. I am sat here typing with burning hands and feet (they are usually freezing cold) and feeling sporadic muscle twinges in my legs. I will get up and go for a run tomorrow and remind myself how lucky I am to still be able to run, try to distract myself and not to dwell on things too much.
I will definitely encourage my son to keep moving but like any normal teenager...he just wants to sit on his computer games. Ha ha
O how I wish I could run with you.. I can’t remember ever running.. try not to get upset . Believe me it won’t help you or your son .. you must be strong for both of you. Keep busy and don’t think about c. M. T. Carry on and enjoy life xx
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due to weak muscle in ankles takes extra long to heal as your muscle deteriorates quickly when not in use over 8 months first time did a real good one with it hip casted for 13 weeks yadda yadda my 3 children were young then youngest was 3 had hip replacement 3 years ago I was fortunate that I'm walking lost all muscle in it as wait for it was very long and risk of surgery is great because CMT . Now I'm a grandma. Just 6 days ago and that another story you just have to be positive. Medically I dont know much about CMT just what my family and I have experienced over past years. Maybe 40 years for me 
Chris's blog....... more updates march 17th
CMT2A PATIENT WITH PHRENIC NERVE PALSY & VOCAL CORD PALSY 
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