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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


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.


This is a collaborative post

Today We Met Our Older Half-Sister For The First Time!

I grew up the eldest of four siblings. I have 2 brothers and a sister, John, James and Stacy. Growing up we always knew we had an older half-sister called Claire who had been born on Christmas Day.
My mum had her when she was only sixteen and she put her up for adoption.  She didn’t really talk about her and we never pushed her as we knew it must have been really hard for her.

Genetic Disease

My sister, Stacy’s little boy and my brother, James’s youngest son, were recently diagnosed with CMT. Stacy and my sister-in-law, Kirsty, joined a support group on Facebook.
A local woman saw a post my sister put up in the group and offered to meet them in town for a coffee and give them information and advice.

After Stacy and Kirsty had met her, they both said they felt that she looked familiar but didn’t think anything else about it.

Later that day, Stacy and Jayne were chatting online and from this conversation, they came to the realisation that Jayne was the daughter my mum had put up for adoption.

Whirlwind Of Emotion

When my mum phoned me to let me know, I went through a whirlwind of emotions. I was stunned at first. I couldn’t believe that Stacy had met her and had coffee and neither of them knew they were sisters!

The shock was then replaced with excitement. I’d always hoped she would find us. I had thought about trying to find her but I had no way of knowing if she knew she’d been adopted and I didn’t want to bring any upset to her or her family.

I often wondered what it would have been like to not be the eldest and to have an older sister.

Group Chat

That same night my sister got us together on a group chat; we chatted for ages and arranged to meet a couple of weeks later.  It was all a bit surreal and felt like everything was moving very fast.

It was good not being able to meet straight away because it gave us all a chance for the news to sink in.

I couldn’t imagine how Jayne must have been feeling. She was coming alone to meet her mum, 2 sisters, 2 brothers, 2 sisters-in-law and a brother-in-law. I would have been terrified!

A Great Time Was Had By All

The meeting nearly didn’t happen because it snowed last night and everywhere was white over when we got up this morning. To top it off, our car wouldn’t start. It was looking like we wouldn’t be able to go but luckily we were able to borrow Ant’s mum’s car and the main roads were all clear 🙂

I’m so happy to say that we all had a wonderful afternoon. Stacy said afterwards that it was like we’d always known each other and I totally agree. Everyone seemed to be relaxed and happy and we all laughed a lot!

Our family is already quite big and now we have another sister and four more nieces and nephews! It’s going to be lovely getting to know them all.

Welcome to the family Jayne, I’m so glad you fit right in with this bunch of mad-heads!

Me, Stacy, John and James - Meeting our older half-sister, Jayne, for the first time.
Back row from left – James and John Front row from left – Jayne, Stacy and me

Mum, Me, Stacy, John and James - Meeting our older sister, Jayne, for the first time.

Mum and Jayne

Jayne, James, John, Stacy and me

Gemma (John's wife) taking a photo of us all at the table




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