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How I fit into “Rare Disease Day”

Well being either yesterday or today is Rare Disease Day, I suppose I can share what I go through. Most of my disorders/disease are not rare themselves, but the extent/timing of them are rare.

I was diagnosed and had surgery for stage 4 endometriosis when I was 14 years old. My doctor said the extent of my endo she would’ve expected on a 60-year-old. Crazy, right? But get this … after I woke up from the surgery they asked how I felt, and I immediately said my leg my leg hurts really bad! Well, they took the blood pressure cuff off and my leg was the size of a basketball. No exaggeration. It was also STUCK in a tippie-toe position. First thought — blood clot.

I was rushed around from test to test, and after a long MRI they discovered it wasn’t a blood clot; rather, I lost ALL muscle fibers/tissue in my left leg and foot! I went through extensive physical therapy for about a year, and it took 6 months to just walk again.

I remember the first time my heel could touch the ground. I was diagnosed with a disease called RSD — Reflex Sympathetic Dystrophy. Not only did I have that, but permanent nerve damage that, to this day, I’m still actively struggling with both.

So yeah, that was rare. I also had a gallstone disease and had it removed at age 17 — not majorly rare, but not common either!

Now, the obvious — Tourette Syndrome.

TS is a common syndrome! But mine is not. I was diagnosed with a tic disorder at age 13, after having tics for as long as I could remember, but nothing out of the ordinary. At age 16, 2:30 a.m. late August, I started moving — more than I EVER have before.

My body was convulsing and contorting in positions I didn’t know where possible. I was doing tics I’ve never seen myself do before. I ran to my parents room sobbing saying “I can’t stop moving!” Immediately I was rushed from test to test to see if I was infected with something making it worse. Unfortunately, I was not.

My gene was set off by an infection I had prior, but there is nothing we can do about it now. My TS is debilitating, which is rare, and so is the onset. Boy am I unique or what?! It is being some what controlled with a medication, but I’m far from where I used to be. Next step is brain surgery.

Through all of this, too, shall I mention I was diagnosed with fibromyalgia when I was 14. It’s some what uncommon to be diagnosed so young with a disorder such as that. The pain I deal with daily between the constant twitching, the nerve damage in my leg and foot, and the overall aches from my fibro is just part of my journey.

While life still goes on, I’m making the best of it. I’m getting a cool wheelchair soon so I can be more independent and go to the mall on my own or with friends, etc.

Some people don’t understand why, well, being my TS is so bad, even the medication doesn’t help the fact that after about 500 feet of walking I collapse. My legs give out from beneath me, and I basically convulse in tics on the ground.

Yeah, pretty lame to try and go somewhere and have that happen! Scared the heck out of the people at Lowe’s! LOL It’s kind of like someone with epilepsy has triggers for seizures; well, I have tic triggers and exercise is a major one. It’s pretty upsetting, but true!

Last but not least for rare diseases, I have a water allergy! Yes! You read that right! A WATER allergy. You’re thinking how do you live? How do you drink water, etc.? Well, my skin is allergic to water! Baths and showers are painful, but have to be done. The skin on my hands peel off and I get rashes. Pure H20 does this, rain water, etc. Crazy, right?! Well there’s a short version of my rare disease for ya!

Feel free to share and educate!

JohannaJ

2 Comments

  1. Thanks Sabrina! Yes I can. It really only affects my hands and feet. Sometimes I get rashes in other places, but it’s more direct in those areas. I drink a lot of water though!

  2. wow, i cant even begin 2 think of what it would be like 2 go thru all that. ur brave johanna. r u able to drink water at least?

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