My CMT story (or Novel-sorry)...

Apparently, my symptoms began in my youth unbeknownst to me...my clumsiness and leg aches (diagnosed as growing pains) are early signs. Fast forward to 2010 with my first vertigo episode (diagnosis: sudden onset vertigo), 2012 on a trip to Washington, DC I started noticing some ankle weakness and was having a hard time keeping up with people when normally I'm the fast walker. 2012-2014 just pretty much found myself having balance issues, more weakness, noticed I couldn't jump anymore and was getting very skinny calves. Decided to up my workouts to gain more muscle. Took on a new position at work in 2014 which was extremely stressful not only physically but also mentally and started noticing my body rapidly declining in health. Started losing more weight (couldn't even get up to 100lbs), neck pain/ weakness, leg weakness, fatigue, tingling in arms and fingers (assumed it was from so much time on the keyboard at my desk), started having muscle twitching (thought it was from stress), and could no longer wear heels due to the fact that I couldn't get my toes to point in order to get them in the heels. Went to physical therapy and acupuncture for stress in neck to no avail. Decided it was time for a change so in March of 2014, I left a very lucrative career and bought a coffee shop. I loved having my own business but working from 3am-6:00pm 5-6 days a week was really hard on my already physically declined body. After having already wasted a year of seeing a rheumatologist, having massive amounts of blood work and testing she decides there is nothing she can do for me and refers me to a neurologist who tells me that she "thinks" that I have ALS (Lou Gehrigs disease)....she couldn't technically diagnose me with it because I was showing signs of lower motor neuron but not upper motor neuron. I asked if that would be coming and she said "yes". That was May 2014 (ironically, May is ALS awareness month and everybody I knew including my husband had been involved in the ice bucket challenge) and just two months after buying my new business. After a two day pity party in bed I decided to start getting things in order because at best I had 5 years to live but typically ALS can take over within 2 years. I put my shop up for sell in September and had it sold by October 1st, Cashed out my retirement, loved on my new grand baby every second of the day, and when I was by myself I cried A LOT at what I was going to miss out on and the inability to do anything about it. Meanwhile, I'm still seeing my neurologist and I'm telling her that my feet look weird and that my toes are curling (yet another sign of CMT) and don't look right but she just kept saying that they don't look any different to her. I ended up going to my family doctor for a checkup and she told me to get a second opinion so I got a referral to an ALS specialist in Portland (an old supervisor of mine had heard of my diagnosis and her husband who was battling ALS saw this specialist and said she was amazing- sadly, her husband has since passed away). December 22, 2015 I visit with this new specialist who tells me that she does not think I have ALS but I have Charcot Marie Tooth Disease. I had never heard of this disease before and to be honest, it didn't matter because the one thing she told me was that in most cases people with CMT do not have a shortened life span because of this disease. 3 days before Christmas and I get the best gift ever!!! Now, Living with CMT is not easy....I can no longer work (I've worked since I was 13 years old), I'm exhausted all of the time, I now wear AFO's (leg braces) which are not only uncomfortable but also not very attractive and impossible to find a decent shoe to fit in, my muscles....well, what muscle? I have very little left, my balance is terrible, my arms, hands, legs are so weak I can't lift anything heavy or even not heavy for any length of time, we sold our Tri-level house because I could no longer carry things up/down the stairs, I can't stand in one place for any length of time without having to hold onto something for support, I now have very high arches and curled claw-like toes which no longer help me balance upright and cramp if it try to use them, my muscles twitch everywhere so if you're sitting next to me it looks like my muscles are in the middle of an intense game of pong (80's Atari game, much like tennis for those of you made the questionable face when reading that