USA v UK

[Guest guest]

Hello everyone

I've been reading your emails with both interest and complete amazement. To

put things in a nut shell your medics are incredible compared to mine. They

accept, understand and do something about CMT, in comparison mine still have a

bone through their noses and a cooking pot in the corner of the room.

The other week I promised you my story, well if you have a few minutes to

spare, read on if not....

I was born in 1960 in Changi Singapore where my father was serving in the

Royal Air Force. At birth I was 'diagnosed as having Talipes, although photos

taken of me at the age of 6 weeks show feet that are comparatively straight. I

went through the normal treatment for Talipes and at the age of 6 wore

orthopedic boots followed by shoes.

However at birth I showed all the signs of quite advanced CMT, flat feet,

stork shaped legs etc. All through my childhood years I was 'inspected' by RAF

orthopedic doctors who every six months would summon me to them, tell me to walk

across the room, peer over their gold rim glasses and say " yes, she does have an

unusual gait doesn't she? "

At the age of 14 the RAF discharged me from their care and did not refer me

on to the National Health Service. So me with my flat, deformed feet, stork like

legs went out into the big wide world without orthopedic or neurological support

at all.

I went on to have 3 children and only saw the doctors for contraceptive

advice or when I needed an antibiotic.

I met my life partner (after two 'husbands') in 1992 who immediately

recognised that I had problems although I thought I'd hidden it by wearing

trousers and heels. I told him that I had problems with my feet and legs but it

was just one of those things a'querk' of nature.

In 1996 I started having problems with my right hip which my orthopedic

consultant decided to give me a general anaesthetic and manipulate my hip under

a local anaesthetic. I wrote to him and suggested he find out what had caused my

hip to give me problems before doing anything with it. He replied two months

later and said what a good idea and refered me to a neurologist.

I saw the neurologist who suggested I might have HMSN and sent me for NCVs.

The neurologist changed inbetween having the NCV's and going back. The NCV's

said everything was normal I didn't have CMT (these guys don't know about CMT2)

and I had five MRI scans which didn't prove anything.

The story of 'disasters goes on' but on January 8 2000 I discovered CMT,

thanks to a very cheap CD called the the Family Doctor that my husbands sister

in law had. She printed out the info, I brought it home and we downloaded info

plus pictures of legs that were exactly the same as mine. I cried because by

this stage I was in a wheelchair and the doctors were unable to say what was

wrong with me I downloaded more info, read more and tackled my doctors with a

file from CMTinT which in my opinion proved inconclusively that I had CMT.

They almost laughed, said I was neurotic and that as a result of my NCV's

there was no way I could have CMT. Since then it has been a battle. My father

'walks funny' my two eldest sons both toe walk, have nystagmus (involuntarily

flickering of the eye) and my eldest son has speech problems and both of them

have blue mottled legs and sometimes hands.

In March I saw a geneticist who saw my very cold, totally flat, blue mottled

feet, legs and strapped up hands, tested my sensory loss with a paper clip and

when I didn't respond used a hypodermic needle to the extent that my legs were

bleeding, made me stand up against a desk until I nearly collasped, finally

noticed drop feet and said that it was highly unlikely I had CMT.

Today, I'm happy, very happy because I saw the same geneticist again but

this time I took my father (funny feet and walk) No 1 son (funny feet and toe

walks, speech problems and nystagmus ) and No 2 son (funny feet, toe walks, blue

mottled skin to both hands, legs and feet and nystagmus) and she admitted that

we do appear to have a genetic problem. I have a big fat file on CMT with

pictures that I took with me and marked out everything in it with labels. When

she mentioned nystagmus, I turned to page ... and showed her how it was related

to CMT etc.

She said she could confirm it was CMT because in my case of the unusual

presentation. I showed her info of severe early onset and a record of a question

I asked a visiting professor about children being born with 'full blown CMT,.

I could go on all night (that's if I haven't) but I must admit I feel very

happy because at the end of our consultation she admitted that all the symtoms

I'd described (I have tremors, curled up fingers etc) and all the evidence I'd

shown her could be attributed to CMT but she still felt she was unable to commit

herself at present, but she was happy that my sons would have the monitoring,

support and help that they need for symtoms relating to CMT.

It is totally crazy but doctors in this country can be so arrogant that they

forget that the most important thing should be the patient and not their own

beliefs. I can and will repect any doctor who will listen to me and consider

what I have to say. After all they need to know about thousands of conditions

and diseases I only need to be an expert in one.

However, off the soap box. I'm happy tonight because my sons will get the

help and support they need and I now know that my grandchildren,

greatgrandchildren etc will be okay because it is accepted that there is a

genetic problem in my family and I have won a battle and in time I shall win the

war. There is nothing they can do for me but there is a hell of lot they can do

for my family and me, I'm going to sue for neglect and subsequent abuse and make

the British public aware of Charcot-Marie-Tooth.

Wow, I'm a nice person really

Love and many blessings to the friends I've made and listened to and

thank you for making me aware that I'm not on my own but that there are a lot of

people out there like me and as I said on Sunday, we are special people. I'm not

particularly religious or anything but I do believe that in this life, we're not

given anything more than we can cope with and though at times it may seem

unfair, we have the strength, support and love to carry on and we are very very

special people who together as a group can only grow stronger.

Much love to you all

Sue XXXX