New to the site son diagnosed today aged 5

We too have been diagnosed today. Our son is 5 but has had epilepsy since the age of 1, and today's results have come after many years of trying to establish the cause of this. Not sure that we've established that, but we can confirm CMT! He already uses a wheelchair for any distance as he has had mobility problems since birth. We are to be tested but now I'm thinking our daughter too may have CMT. She has mobility problems, although not as severe, but has tight Achilles tenons, short hamstrings, circulation problems, has had bi lateral plastering and regular physio. She has another chromosome disorder not related, but hey ho we will cope!

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  • Hello ! Sorry to hear about you families medical problems: You will be aware that CMT is an inherited (passed from parent to an offspring) neurological disease, you did not mention what parent has this condition ?

    The normal development pattern of CMT is showing very early in your children, it usually only shows itself when they are teenagers: High Arches (Pes Cavus) + walking gait + poor balance, and their being clumsy are all classic signs:

    At present there is no cure for this condition: You as a family must now adopt a POSITIVE MENTAL approach on how to arrange the MANAGEMENT of this debilitating condition:

    My Neurologist told me " don't worry your are not on a slippery slope downwards, instead think of going down a set of stairs one at a time - each slow step down is a different stage, where you will learn to adapt/manage to it's particular features:

    I would recommend that you contact Karen at CMT in Bournemouth and purchase the "Living with CMT" book which provides you with plenty of advice on this nasty disease:

  • Thank you John. At the moment we (the parents) haven't been tested. Due to have this in a couple of weeks. My sons results came about as a geneticist was testing for an explanation to his learning difficulties and epilepsy etc. did epilepsy cause brain damage or vice versa. Fantastic medical team covered everything and discovered extra copy of pmp22 on c17. Because of mobility problems and developmental problems he has already been statmented and already has it and physio so I actually think we are quite lucky, as we already have things in place, so now I will just have to instruct them as to doing what's best for him! At least we don't have to fight to access services, he also gets dla now so no fighting there! Mostly we will take each day as it comes allowing him to fulfill his potential to what he can achieve rather than limiting what he can do. What we don't know is how progressive he will be, he may stay as he is for a year, or five or ten before anything else changes, he already suffers with problems with legs/feet and hands, but one day at a time. At least I'm hoping that's the right approach. Any thoughts?

  • hi i was diagnosed at aged 6 with cmt 1 a (pma) . i also have cah not related now 35 HI

    I have cmt type 1 a .i have foot drop on right had many ops on both feet i where afos on both feet an wear trainers i walk with a rollator to occasionally a walking stick,.

    I live in skirts an dresses .never cover them up.i have very weak legs high arches curled toes an very weak arms an pain in both always aching. Hands feet get very sore my fingers are starting to bend an i am losing my grip an feeling. find it difficult holding pens an writing even with pen grips have to use straws.i have a buton zip tool.an graber reachers.i have every kitchen going for bottles lids an tops can openers jar openers peelers etc an house hold tools an personal hair brushes etc.i am unable to lift heavy items.my wrists are weak an drop.as like foot drop.i have wrist supports also.take tramodole an pregabalin for pain.getting referred to neurologist orthopeadic an pain clinic for more tests.have got really bad in last 2 yrs.have mild arhritis an breathing probs.constant back ache burning feeling in parts arms etc.get sore hips thighs an knees sometimes grinding of bones.can't sit or stand for long i keeping moving around.

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