I’m sure there are some of you scratching your head wondering what this Friedreich’s Ataxia (FA) even is and why do I need a walker? Well, let me enlighten you…
Text book interpretation:
FA is a debilitating, life-shortening, degenerative neuro-muscular disorder. About 1 in 50,000 people in the US are diagnosed with FA. FA patients have gene mutations that limit the production of a protein called frataxin. Frataxin is known to be an important protein that functions in the mitochondria (the energy producing factories) of the cell. Specific nerve cells (neurons) degenerate in people with FA, and this is directly manifested in the symptoms of the disease.
Have I lost you, yet??
A handful of these symptoms include: cardiomyopathy, slurred speech, fatigue, poor circulation, lack of sensation, diabetes, and loss of coordination and balance. At this time my only obvious symptoms are:
~occasional slurred speech- Mostly when I try and talk too fast my words slur together.
~fatigue- one of the worst! I’m tired 80% of the time. Which is why I always need my coffee!
~poor circulation- I have horrible circulation to my feet. They’re always cold!
~lack of sensation- hot to a normal person seems only warm to me. I sometimes drop my fork while eating because I lose the sensation of it actually being in my hand.
~loss of coordination and balance- definitely the worst and most frustrating part of dealing FA. I have to use a walker at all times. This limits me to what I can hold, carry, or do for myself. I sometimes even have to use a wheelchair if I’m really tired or the distance from A to B seems too far for me to walk.
I look drunk!
Plain and simple.
It is not contagious– it will not rub off on you, I promise! Nor does it affect my brain! So, if I say something stupid well, then…I said something stupid! And you can slap me for it!
Friedreich’s Ataxia is a recessive genetic disorder. Meaning I got it from both parents, who so happened to be carriers of this gene. Because they are only carriers, they show no signs or symptoms of FA. It wasn’t until I was diagnosed that my parents even heard about Friedreich’s Ataxia, let alone learning they were carriers. My odds of even having Friedreich’s Ataxia was 25%. I mean, come on! Really?!?! How did I manage to pull the short end of the stick?!
I can remember it like yesterday, when my doctor called me to break the news of my diagnoses. My parents and I sat around the table with the phone on speaker so we all could hear: “I have some good news and some bad news.” Oh shit, what is it?! “The bad news is, you have Friedreich’s Ataxia.” When I first heard this, I didn’t have a reaction at all–no tears, no anger…nothing. I completely spaced out; plotting how miserable my life was going to be. (I had an idea what FA was because I did research when my doctor told me what he was testing me for; and from the sites I read, it gave all worse case scenarios. So, when he told me this I figured I’d be in a wheelchair tomorrow and dead in 5 years). “The good news is, your progression rate is really slow. You will notice yourself declining at a much slower rate than most.” Yea. Yea. Whatever.
The doctor continued to tell me there is no treatment or cure, and I need to come in so I can understand and be more prepared for life ahead. You know in the movies, when you see someone diagnosed with cancer or something and the sad music cues and they zone out the doctor and everything sounds muffled or under water? Well, this totally happened at this moment! When I zoned back in, the only question that I asked was: “Will I be able to have kids?”…How ironic; I write this question while my son is sitting in front of me.
It wasn’t until after we hung up with the doctor that my dad told me it would be okay to cry. It was at that moment I snapped out of it and sobbed. We talked about it, then cried some more.
The next day, I went about my business as usual…went to work, then class, came home and pretended like I hadn’t just heard the worst news of my life. Days went by and I never grew the courage to tell anyone. I figured by not telling anyone, then me having FA wasn’t real. My parents ended up sharing it with my whole family, but other than that I wasn’t ready to spill the beans to anyone else. I was in denial, big time. If I was careful enough and conscious of what I was doing physically, I was able to hide it pretty well. It wasn’t until 5 months later when I began spiraling into a dark spot and experiencing anxiety from keeping this secret. My close friends knew something was physically wrong with me as I became more and more ‘clumsy’ so I knew it was the time to tell. I’m really glad I didn’t wait much longer to spill the beans, because months later I became pregnant and my symptoms got a hell of a lot worse. I had to quit my job at a daycare, I began physical therapy twice a week, learned new ways of taking care of myself while my belly continuously got bigger and prepped to become a single mom–life was not panning out to be peachy.
Because Eli’s dad, Danny, and I had our ups and downs with our relationship during the pregnancy, we both knew we would be more compatible as co-parenting friends. It wasn’t easy to accept at first, but we made a solid plan of how we would split time with our son without doing the typical tug-of-war thing parents do with their kids. It all became easier over time. I have an extremely loving and supporting family and group of friends that has helped me out since day 1. I have grown close to Danny’s family and friends who have unconditionally helped and supported me, too! We don’t have your average ‘separated parents’ relationship-we help each other out when needed, we communicate well about Eli and most importantly, we respect one another. And that’s all I could ask for!
As stated before, FA is a progressive disease-simple tasks become harder over time. And hard tasks seem impossible. My progression sped up during pregnancy (due to hormones) and slowed to its original pace after Eli was born. Unfortunately, the damage during my pregnancy, to my nerves, was already done. There’s no ‘un-doing’ nerve damage. If there was, FA would be cured!
If there’s one thing that has stuck with me upon my diagnosis, it’s exercise.
I do a lot to keep my strength and be as active as I can since I spend a majority of my day sitting. I see a personal trainer twice a week, a chiropractor twice a month and my own in home exercises/yoga stances.
I can’t stress enough to my fellow FA’ers the importance of having some sort of exercise in your day because “If you don’t use it, you lose it!”
I put my heart and soul into keeping myself fit and healthy. It really is difficult some days to motivate myself to get out of bed, let alone doing exercise but I gotta do it!
My hopes and goals are to kick FA right in the ass and get my life back to how it once was. Even if I can’t, at least I’ll have a nice bod to show for it 😉
Feel free to visit http://www.curefa.org to learn more about Friedreich’s Ataxia.