's Mum

[Guest guest]

I have been reading your posts as they have come and I find you all

so very much inspiring! The support that you give each other and

ideas is just fantastic and most of all opening your lives and your

feelings.

Apparently 's results are in but we are unable to see the doctor

until the 19th of October and they are getting back to us as to if

he needs to go an hour earlier for a brain scan. Although I have not

been involved in the group for long I am interested in any feedback you can give

me on the questions I need to be asking on that visit.

The frustrations continue with the other hospital when in physio last

week after was not able to walk for 7 hrs they were stretching his legs he

had tears rolling down his cheeks in pain and she told him it was a good pain.

I have no doubt the stretching is good but I think they push to hard and guess

what this week he is refusing to go.

Some other things I am curious about is the skin...'s skin is so tight all

over his body he is rather a big lad but to be able to pinch him is impossible

and the heat that is in his skin very rarely does he wear warm clothing even in

winter. This is something I have raised several times over the years and in fact

the referring peadatrician that diagnosed with myosytis was the one that

pointed his skin temperature out to me however the city hospital ruled out

myositis.

The only test I have ever know to return with something showing on

it was a lactic acid test which resulted in vommiting from the

amount of blood taken( they want to do another now and he says no way

and how can I blame him)after that test it was said to me it's like

he has a muscle meltdown.

Is it possible that the CMT will not show up in the blood tests? The only other

thing I know medically wrong with is a kidney reflux (which all my children

were checked for)but it did not require surgery.

The only thing I have ever known to help is quinine in which he was on in

tablet form but however it is no longer available here but he tries to drink as

much tonic water and lemon bitters as possible the first time he started

drinking tonic water before he was on the tablets was the first time he started

waking without pain he still does the " penguin walk " as we call it especially

in the mornings.

He has a huge intake of water a day I would say up to 3 litres and takes a

bottle to bed with him. Funnily enough in reading

your posts about shoes can only wear New Balance. Sometimes I

think I am just hoping for an answer please don't think I want him

unwell it has just gone on for so long and within himself he is

going down mentally.

Lesley

[Guest guest]

Hi Lesley,

Yes, it is possible that CMT won't show up in the blood test results.

This depends on which panel of tests he had. Did he have only the test

for CMT 1A or the full CMT panel? (Full panel would include testing for

all types currently known by genetic inheritance) And then it is always

possible that an EMG/NCV test indicated CMT, whereas the blood test

came back negative for CMT. It is a shame the tests are back and yet

you have to wait until October for the results.

As for the pain issue with the physio, I would not personally go back.

This physio could in fact be pushing him too hard and not understanding

exactly what CMT is all about. The " no pain, no gain " theory isn't for

those of us with CMT. While stretching is important, make sure that

Physio KNOWS CMT. I know that " muscle meltdown " feeling well. My first

physical therapist pushed me till I cried myself to sleep after she

left.

As for skin: I have always had " hot " skin. Even in winter. When my feet

are hot, so is the rest of me. I go barefooted in winter inside my

house just to keep my body temp from being hot.

As for 's emotions, CMT is very hard to handle for some. You

haven't said how old he is, but from my own life as a CMT child, I

spent countless hours in frustration, worry and fear. Fortunately my

father taught me alot about a 'positive mindset' that helped.

Be strong for , write down all your questions for the doctor, maybe

have a friend go with you to the Dr. appointment to take notes on what

the doctor says so you will have all the info to review later.

~ Gretchen