Charcot Marie Tooth Disease – Our Recent Diagnoses

charcot marie tooth disease

My mum has suffered from weak legs and funny shaped feet since she was tiny. She’s had to undergo a few surgeries over the years to try and help her walk easier.
Recently, my sister’s youngest son, Nathan, was diagnosed with Charcot Marie Tooth Disease. Not long after, my brother, James’ son, Logan, was also given the same diagnosis and my brother, John’s daughter, Alyssa is awaiting the appointment for her test to come through.

Long Lost Sister

After Logan got his diagnosis, my sister, Stacy and sister-in-law, Kirsty, met up with a lady from a CMT Facebook support group. CMT has different types and she, as well as 2 of her children, have the same type as Nathan and Logan.

You may have read my previous post about meeting my older half-sister. She had been put up for adoption before my mum met and married my dad.

It still amazes me that this disease is the reason we’ve found our sister!

Mum, Me, Stacy, John and James - Meeting our older sister, Jayne, for the first time.
Back row – left to right – James and John. Middle row – left to right – our new sister, Jayne, Stacy and me. Front – Mum

What Is Charcot Marie Tooth Disease?

For those who don’t know, here’s a bit of information about CMT, taken from NHS UK

Charcot-Marie-Tooth disease (CMT) is a group of inherited conditions that damage the peripheral nerves.

It’s also known as hereditary motor and sensory neuropathy (HMSN).

The peripheral nerves are found outside the main central nervous system (brain and spinal cord). They control the muscles and relay sensory information, such as the sense of touch, from the limbs to the brain.

People with CMT may have:

  • muscle weakness in the feet, ankles, legs and hands
  • an awkward way of walking (gait)
  • highly arched or very flat feet
  • numbness in the feet, arms and hands

The symptoms of CMT usually start to appear between the ages of five and 15, although they sometimes don’t develop until well into middle age or later.

CMT is a progressive condition. This means the symptoms slowly get worse, making everyday tasks increasingly difficult.

Read more about the symptoms of CMT

Mum

My mum has great difficulty with walking now. She has various walking aids like crutches and a tri-wheeled walking frame with a basket for when she wants to go shopping.

For long distances, she has a wheelchair but I think she’s soon going to need a mobility scooter. It will mean she doesn’t have to rely on someone being available to push her when she wants to go out for the day.
Mobility scooters used to be something old people used but today I see people of all ages using them.
My nephew will probably have to have one at some point but for now, he’s still young enough to be pushed around in his special pushchair.

Logan's new puchchair

When he starts school, my brother, said he’s probably going to have to have some kind of mobility scooter or electric wheelchair for when his legs get too tired and painful.

My Children

I mentioned to my doctor about CMT and asked if my children need to be tested. None of them has trouble with their feet but KayCee’s had knee problems for a while.

She’s seen the physio and has to do daily strengthening exercises which the doctor said would be the treatment she’d be on anyway if she had the diagnosis.

My children need to be aware of it in the future as they could be carriers of the gene.

 

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