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My complicated journey with CMT

"Charcot-Marie-Tooth disease, or CMT, is a progressive, degenerative disease involving the peripheral nerves that branch out from the brain and spinal cord to other parts of the body, including the arms, hands, legs and feet."

CMT causes many symptoms and they can vary wildly from person to person. My journey with CMT has been ✨very complicated!✨ If you would like to learn more about the symptoms of CMT you can find me on Instagram 

@thechronichronicles

CMT causes (amongst many other symptoms) pain and fatigue. It slowly robs you of the ability to look after yourself, to walk, to work, to enjoy life. I have always been so fiercely independent, sociable (I'm an introvert at ?!) and adventurous (following in my Mum's and Nanna's example!) All those things have been ripped away from me because of CMT. That is why we need more than awareness. We need action, to find a cure. In order to do that we need to undertake fundraising. If you are able and would like to donate you can do so at the bottom of the page, everything helps and is immensely appreciated! ?
If you would like to read my story (and I do mean read, I have a tendency to waffle, this is your only warning ?) then please read on.

For me my journey always began with my Mum and her side of the family. Nearly every woman in my Mum's side of the family has CMT (with a few exceptions of course!) My brother also has it. Interestingly one of my Mum's cousins (M) has MS and not CMT, however I recently read a medical journal that found that CMT & MS can co-exist! ? So too can multiple types of CMT in the same person (I mean, come on, that's just so not fair! ?)

From a young age I showed symptoms of CMT (as I have recently found in my medical records - from the age of 2!) However my Mum was told I was tested for the gene, didn't have it and therefore didn't have CMT (it was the 90s to be fair!) So we went about life thinking I was fine. My Mum struggled with her CMT and as it is degenerative, things got only worse over time. She had countless surgeries on her lower limbs. I would say from around the age of 10 I began to help her with care tasks, housework, looking after my siblings and caring for her dressings and the like. I remember being in a lot of pain, I don't remember a time I wasn't in pain. However the doctors assured my Mum it was growing pains. I was clumsy, had foot drop, hammer toes, high arches alot of the typical symptoms of CMT (but again, no PMP22 gene!) I always felt so confused as to why I wasn't like the other kids in PE, I wasn't fast, no hand/eye coordination, couldn't jump and tired incredibly easily. But I'm also incredibly tiny ? I always thought "it's because I'm short!" (Spoiler alert: it was not because I was short!)

Life went on and Mum soldiered through as did I. I used to prey (I am and have always been an atheist ?) to take on her pain as my own to relieve her of it (boy did that come back to bite me in the bum!?) Mum ended up having her right leg amputated the very hour I was sitting my geography GSCE exam (which I cried the whole way through!) I ended up at Bradford University studying Archaeology and the became the President of the University Jiu Jitsu club also training in some other sports clubs. What I did not know at the time was I had broken my ankle in 2 places around 6 months before which had not healed properly (and then I started high impact sports ?)
I turned 21 and that's when my surgeries on my ankle began and it was also when I received a clinical diagnosis of CMT from my Mum's long time trusted orthopaedic surgeon. After healing from the surgeries I sought to get a diagnosis from a neurologist as my surgeon was ? sure it was CMT. The neurologist flat out told me I didn't have it whilst he spent 10 minutes trying (his hardest) to find any reflexes ? so I had nerve conduction studies and they came back with a diagnosis of CMT! Wow! I'm shocked ??
They then cast me back into the cruel world without so much as a thanks very much let alone a treatment plan ⏩ 2019 symptoms have gotten worse, I had to stop all sports, quit my master's degree and this was the year I also lost Mum to lung cancer. Anyway!2019 brings a new neurologist (same old judgement and denial of CMT) more nerve conduction studies... Joy! Yet ✨another✨ diagnosis of CMT how many is that now, 3?
The back end of 2019 and beginning of 2020 I finally felt like I was getting somewhere, I had neuro-rehabilitation physiotherapy which was focused on my CMT and weakness. I was struggling with walking and was in denial about needing a mobility aid, I probably needed one for a good year at this point. However not long into 2020 the global plague hit and all my treatment stopped. I went downhill drastically... ⏩ 2022 July 28 (the day after my 31st birthday) I have FINALLY received a genetic diagnosis for CMT! The gene I have is the MPZ gene. I still don't know my type yet. But it took the genetic testing 9 months to find the gene so ??‍♀️
I am relieved for the genetic diagnosis. No more neurologists telling me I don't have CMT. However I now know (what I've always know in my heart) that I could get worse & worse and maybe end up like my Mum, both legs amputated, spine crumbling and no quality of life. Even with her unconquerable spirit I knew better than anyone how much she was suffering, how alone she felt, how much pain she tried to hide behind that gloriously warm smile. She was fiercely independent, sociable and adventurous as am I and all of those things have been ripped away from me as they were from my darling Mum and Nanna before her. That is why we need more than awareness. We need action, to find a cure. In order to do that we need to undertake fundraising. If you are able and would like to donate you can do so at the bottom of the page, every donation (even the small ones) make such a difference. Research and medicine are always evolving and ?? we will find a cure. From my heart to yours thank you so much for reading my story and helping us in whatever way to find a cure, so more people don't have to miss out on life because of "chocolate foot" - as my soon to be MIL calls it ?

My Mum and Nanna's memories and resilient spirits fuel me onwards and I wouldn't be doing this without their positive input in my life ?

✌? Shelley

 

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  • Alex Surtees From Hannah Koon (SAFS) September 2022 $21.20
  • Alex Surtees From Ranjit, Kevin, Mark and Pam September 2022 $21.20
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  • Bea Baxter You, and your Mom and Grandmother, have incredible courage. Thanks for telling your story. September 2022 $10.60
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