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Living with a disability

User Profile: kamisoul3485
kamisoul3485 April 3rd

I have type 1 Charcot Marie tooth it doesn’t deal with teeth and it’s not very talked about even though I can affect 1 in 25,000 people

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User Profile: Amanda84
Amanda84 April 3rd

@exuberantEast8498

Thank you for opening up.

It's about creating an awareness.

I've personally never heard of it 💛

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User Profile: kamisoul3485
kamisoul3485 OP April 3rd

You should look it up it’s interesting

User Profile: Amanda84
Amanda84 April 3rd

@exuberantEast8498

I will 💛

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@kamisoul3485

Please tell us more about it? <3

User Profile: kamisoul3485
kamisoul3485 OP April 4th

Charcot-Marie-Tooth (CMT) disease is

a group of inherited, progressive peripheral neuropathies that damage nerves in the arms and legs, causing muscle weakness, atrophy, high foot arches, and sensory loss. It is the most common inherited nerve disorder, typically caused by genetic mutations, with symptoms often starting in adolescence. 

Symptoms of Charcot-Marie-Tooth Disease
Symptoms vary in severity, often starting with feet and legs before moving to hands and arms

: 

  • Lower Limb Weakness: Weakness in ankles/feet, causing footdrop (difficulty lifting the foot) and walking instability.

  • Muscle Atrophy: Shrinking muscles in the legs and feet, sometimes causing a "champagne bottle" leg appearance.

  • Foot Deformities: High foot arches and curled toes (hammertoes).

  • Sensory Loss: Numbness, tingling, or reduced sensation in limbs.

  • Clumsiness: Frequent tripping or falling, particularly during running. 

Causes and Risk Factors

  • Genetics: CMT is caused by inherited genetic mutations that affect the peripheral nerves' ability to function, either by damaging the nerve axon or the insulating myelin sheath.

  • Common Genes: More than 30 genes are associated with CMT, including PMP22, MPZ, GJB1, and MFN2.

  • Inheritance: It is inherited through autosomal dominant, autosomal recessive, or X-linked patterns.

  • Risk Factors: The primary risk factor is having a family history of the disease. Other conditions like diabetes or certain medications (e.g., vincristine) can exacerbate symptoms. 

Prognosis and Daily Life

  • Prognosis: While progressive, CMT is rarely life-threatening and usually does not affect life expectancy.

  • Daily Life: Symptoms can cause significant physical pain, emotional distress, and difficulty with daily tasks like walking or grasping objects.

  • Management: There is no cure, but management includes physical therapy, occupational therapy, braces to assist walking, and sometimes orthopedic surgery. 

Diagnosis
Doctors diagnose CMT through a combination of neurological exams, nerve conduction studies, and genetic testing. 

I did copy and paste this from the internet but it’s the basic rundown

User Profile: kamisoul3485
kamisoul3485 OP April 4th

Imagine using boxing gloves for doing everyday tasks and keeping your toes curled while walking on the outer edge of your feet while you have tiny glass shards stabbing you from your toes up to your hips

That sounds so uncomfortable and painful :(

User Profile: kamisoul3485
kamisoul3485 OP April 4th

I’m not at the boxing gloves point but I do feel pins and needles when I’m walking around plus I have hammertoe and super high arches

Awww I’m sorry :(

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User Profile: Tinywhisper11
Tinywhisper11 April 4th

@kamisoul3485 I just looked up what this illness is🙁 it does not sound easy😥 bless you. How badly is it effecting you right now?

User Profile: kamisoul3485
kamisoul3485 OP April 4th

It’s not too bad right now cuz I’m still young and my doctors say Im progressing slower than my sister but it does make it hard to do my job and it does still cause me a lot of pain and stress. The appointments for my specialist are like $500 and my splints that I need for daytime are over $2000 and it’s the same with the night splints :(

Do you have good insurance?

User Profile: kamisoul3485
kamisoul3485 OP April 4th

Unfortunately no I’ll have to start the whole finding a doctor and getting a referral to a specialist process all over again because of my new insurance

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User Profile: Tinywhisper11
Tinywhisper11 April 4th

@kamisoul3485 🙁 awww bless you 🙁 disabilities are hard enough on their own without having to worry about money too🙁 gently hugs you💖

User Profile: kamisoul3485
kamisoul3485 OP April 4th

It does suck but my fiance has been really kind and supportive of me

User Profile: Tinywhisper11
Tinywhisper11 April 4th

@kamisoul3485 aww I'm so glad you have a supportive partner💖💖 I'm lucky I live in the UK and healthcare is free here

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