We may finally have an answer after 9 years

[Guest guest]

Hi there my name is Lesley. I first hear of CMT approximately 3 months ago when

i was speaking to my mums friend and told her that the doctors were going to put

my son's legs into plaster and she asked why, I gave her a brief explanation of

being undiagnosed and how some days mainly after high impact excercise he

could not walk. She then described to me with just a few things without

ever laying eyes on him. She was an older lady with a niece with children with

CMT.Of course I straight away jumped onto the internet and started looking for

information.

was 5 when one day his older brother came out and said to me couldn't

stand....I thought ok he doesnt want to go school went into his room lifted him

down off of the bunk bed and he hit the deck had no use of his legs from the

knees down.The result of that day was was 3 days over a virus and the

peadatrician said it wouldn't happen again.Well exactly 12 months later it did

he recovered from a virus an 3 days later same scenario.

This time they said ok if it happens again he will need blood taken. has

never ever been sick since then how ever on the first day back to school in the

yr 2000 he played a game of basketball and the next day he couldnt walk.The

original peadatrician had retired we were sent to another who told me had a

form of Myositis and refered us onto a city hospital(we lived in the country).

They how ever disagreed and after a muscle biopsy ,Mri,heart specialist

,rehabilitation doctor,ultrasound , metabolic team etc etc and a folder thicker

than my arm they declared him the mystery boy.

Over time new things have come to notice including approx 5 times in as many

years he has this cramp go across his midrift which sticks with him for

hrs...always at 9 pm at night and he sleeps in a reclining chair crying himself

to sleep as he cannot lay flat.Waking with headaches, if he turns his ankle or

hurts himself he seems to take a long time to heal, for a long time i have been

saying to the doctor he rides a bike in his sleep for ages and he rocks and his

legs shake when he is sitting...a sleep test revealed he rode that bike for 2

hours continuously.

Physio wanted him in the water doing stretches daily so we joined a gym and he

did this as well as use the gym area bikes,walking machine etc and on a visit to

the doctor a few months ago it has shown it is now going into his upper legs it

appears that the excercise is making him worse. I might add approx 12 months ago

I moved to the city with my children and a big reason for that was for more

help with .

No doctor in this hospital has ever seen in the condition so last week

after he had done a bike ride with school for 5k's he knew by the feeling in his

legs the next day what was going to happen so i contacted the hospital who said

they could not see him.Totaly frustrated i had a dummy spit and the next day i

took him to another hospital for a second opinion the original hospital said

there was no way he had CMT.

I expressed my concerns at the new hospital....this doctor looked in his mouth

and said I agree with you and done the bloods on the spot(apparently a high roof

mouth is a tell tale sign?) and now we wait for we don't know how long for a

follow up appointment with their peadeatric nuerosurgeon.

I really hope i have not babbled on for to long for a first email the

frustration for me not being able to tell my son over the years why he isn't

normal as he wants to be (playing his sports) is just that frustrating

Thank you kindly,

Lesley