Wednesday, 13 February 2013

EXTREMELY IMPORTANT CMT FACTS


FORENOTE: AS TITLED THIS IS EXTREMELY IMPORTANT TO THE NHS AND PEOPLE THAT I KNOW AND FAMILY...

Not reading this post and indeed lying about reading this post will prove extremely embarrassing to all family members who... STILL QUESTION MY ABILITIES and WHAT I HAVE SAID...

Many of you have witnessed many things listed below and others have heard me mention them in the past. here is a little tip to work out if I am right or wrong before making a complete IDIOT of yourselves. The list is below, make a short list and ask each other. There are many things below, and even at least one missing from book, that I had NO IDEA whatsoever was linked all together and had been told NO NOT POSSIBLE for twenty years, watch out for the post 'THE BEAGLES' for more on where I am going with this....

Charcot Marie Tooth Disease Book - A Practical guide
also known as hereditary motor and sensory neuropathy and peroneal muscular atrophy

Compiled by CMT International UK

113 Pages (I have covered 60 below and only listed what applies to ME)

JEAN-MARTIN CHARCOT (French)
PIERRE MARIE (French)
HOWARD HENRY TOOTH (British)

Relevant Facts to My Case

First of it is the deterioration of peripheral nerves which control and send sensory information to the brain. This therefore can result in slow non-existent transmission primarily and firstly to the feet and lower legs and later forearms and hands. Page 5

This can lead to bone abnormalities in the foot such as high arches (CHECK), hammer toes, foot drop, scoliosis, muscle cramping (CHECK), balance problems (CHECK), hand function (CHECK) and loss of normal reflexes (CHECK & CONFIRMED NHS & PRIVATELY). Page 5

It varies in severity even within the same family.

Chance of inheriting it is 50/50.

Surgery, physiotherapy, occupational therapy all possible (NO, NO (Never heard of it) & NO)
Physical activity should be kept up but moderate

1 in 2,500 affected

Medical Staff should be sympathetic and not the attitudes ‘go home and PUT UP WITH IT’
10-20% affected experience no symptoms whatsoever. Page 13

Not severely disabling but it is progressive (so will be before long). Page 13

Sufferer experiences painful and twisted ankles common due to walking style. Page 14

Leg cramping is common. (Four members of my family witnessed this). Page 14

Restless Legs Syndrome is COMMON (Mirapexin given for this). Page 14

Weaknesses in the hands occur in most sufferers but AFTER the age of 20 and the feet are ALWAYS affected first. Page 14

Delicate and intricate tasks with hands are difficult. Page 15

Cold feet and bad circulation (no doubt from delayed reaction of sensory information occurs a lot with me in evening, this year had the shivers half the time when going to bed)

Numbness that leads to self-injury and not noticing (my word I have lost count on this one)

Reflex loss (knee slow (chiropractor) and Achilles NOTHING (NHS Podiatrist))

Hand Tremors

Different types of CMT…

TYPE 1 – Sensory Transmission slow down.
TYPE 2 – Affects vocal chords and DIAPHRAGM?!
There is also a TYPE X as well as variants of some or all of the above.

Yu can have a bad reaction to anaesthetics (TWICE NOW and not including one as a child). Page 32

Anaesthetist should ALWAYS be told of CMT and CMT sufferers are NOT suitable for DAY CASES (if I need to explain this one to two members of my family they need to return to school!!). Page 33

List of drugs you SHOULD NOT take, one I have is in the list, Metranidozole but no effects and thought it a great antibiotic.

CMT sufferers get low self-esteem, relationship issues at work and even within the family. Page 49
Coming to terms with losing abilities like playing TENNIS (hilarious), using a computer (terrifying), using ZIPS and buttons and even turn pages (that is not funny).

You will grieve at EACH LOSS! (Yes but NO ONE got it unfortunately)

Parents who are told about their child being sufferer (NOW PAY CLOST ATTENTION HERE) get angry with each other, the Doctor and often state that LIFE IS NOT FAIR?! Well you fucking bet it ain’t and I am living proof of that!! LMAO!

NUTRITION (NOT EFFING AGAIN?!?!)

Difficulty finding shoes you find comfortable. Page 54

Surgery exists for HIGH ARCHES?! Page 54

Breathing Problems. Page 54

Morning headaches as CMT affects your breathing in the night (I BLOODY KNEW IT!!). Page 54
They give out Respiratory Drugs to help you BREATHE?!

You can get fatigue very quickly, within 30 minutes that can last for days.

Must take great care?

Household chores a pain and recommended to set out dinner table long before you eat, cut down on work preparing a meal?! (I FECKING TOLD YOU!!)

Household items should be between your HIPS and LIPS (I FECKING TOLD YOU THIS TOO)
Nerve block Surgery. Page 59

Triple ATHRODESIS? (cannot recall why I noted this lol) Page 59

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