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.
My interpretation:
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.
Balancing ataxia and Mom life 
I still remember the day I walked by Carol’s office and you were in there eating saltines and I jokingly asked if you were pregnant! Of course I was surprised when you replied yes! You were blessed with a beautiful son.
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Hahaha that was great!!
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Eli sure is a blessing! Thank you 🙂
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Very up front & honest. I look forward to reading more…..and nice guns btw
: )
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Thanks, Pam!!!!
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Dear Erin, I love your blog! Your wit and honesty just pour right out of you. It’s good for me and others to know how you are feeling about your life so we can support you even more and to know what you are going through. It’s enlightening to say the least, but you are an inspiration to me, Erin, with your ever so positive outlook on life and beautiful smile to go with it; we can all learn something from you Erin, when we think we are too tired or weak. Thank you for writing your story! All my love!
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Thank you so much, aunt Chris!! It’s the wonderful support I get from family and friends that inspire me to keep a positive outlook on life. I really couldn’t do this without my loved ones! I didn’t expect my blog to get this many hits so far, but I’m glad it did. I will keep em’ coming! Love you!
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Erin!! This was an awesome read and an eye opener! We’ve known each other for years and hung out here and there in HS ect. I can’t believe this could happen to someone like you! Your such an awesome,generous,well spoken,beautiful,strong woman! With all this running around I’m doing at this moment getting ready for this weekend I glanced at Facebook and saw your post! I stopped bc I wanted to stop and read this! I’m so glad I did! I would of never guessed over the years you had this! I can’t believe as a single
Mom how strong you are and how your dealing with this!! I’m so unbelievably impressed and happy for you!! I hope you kick this in the ASS and wish you luck!! If there is any type of donation please share! Keep up the posts!! I would love to read more!! And Eli is so adorable! He could def be a toddler model!! Stay strong girl!! You have a lot of LOVE behind you!!
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Stephanie, that is extremely sweet of you to say!! I’m sad we’ve lost touch over the years, but we should definitely get together soon! I am glad you were touched by my post. I will keep them going! Your little one is a doll too 😉
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Great start Erin! and you look awesome in your work out pictrues 🙂
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Thank you!!! 🙂
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Erin,
We don’t really know each other well besides occasional run-ins in high school but this blog is absolutely beautiful and uplifting. Thank you for sharing! Strength is a beautiful thing, and it seems you have plenty of it. Best of luck.
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You’re sweet! Thank you for your positive feedback. It means a lot!
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Erin, You dont know me, and I stumbled on your page from the FA group on facebook. I am 33, diagnosed with FA at 30, been showing signs since I was 20ish.
Slow progression similar to you… I want to commend you for starting a blog, I know it definitely helps to get your story out vs. keeping it bottled up. Also, I can second your workout notion and “use it or lose it”!! I eat super healthy and work out 5 days a week. I am not the only guy at the gym with a 6 pack, but Im the only guy at the gym with a 6 pack that uses a walker!! Working out and leading a healthy life is something everyone should do, but it greatly impacts those of us with FA in an immensley positive form. Keep up the blog, I’ll keep reading!
-Joe T
Cincinnati
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Hi Joe! Well, I’m happy to hear that you are taking such great care of yourself! Are you able to work out by yourself or does someone typically help you?
Keep up the good work!!
I’m glad you’ll be following my blog, I’ll keep Em’ coming!
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This is beautifully written Erin! I hear your voice and story strongly in you blog and I am so inspired by your positive attitude on life! You are a super strong woman in so many ways! Love you sweet cousin!
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Thank you so much, Hannah!! Love you!
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Erin, I loved reading your first entries…writting definately must run in the family…you had me smiling, laughing, crying and inspired (can an old lady get guns like you). You are a wonderful person inside and out. I often want to ask you questions but never know if I should or shouldn’t. I’m so happy for you that you have started this and look forward to reading more and more. Even though you are a beautiful young lady now, I can still see you as that little girl that giggled and played at family get togethers and when I had the chance to baby sit you in the summer’s. You are a wonderful mother and what a blessing Eli was to you and all of us and what a blessing you are to him. He will grow up with compasion, love and laughter all from his momma!!! Hang in there my sweet niece…we are all here for you ALWAYS!!!!
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You are so incredibly kind!! Never feel like you can’t or shouldn’t ask me ANYTHING! I’m an open book and love to enlighten people of what FA is like for ME! So ask away 🙂 love you!!
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Erin,
When by youngest daughter was 10 months old, I was told I had Reflex Sympathetic Dystrophy and I would eventually lose the use of my arms. It, too, is a degenerative neurological disorders, one where I would wake in the middle of the night feeling as if my hands were on fire. I didn’t have the grip strength to turn a door knob and I was told it would only get worse. I know that these two afflictions are completely different, but what I can tell you is that your attitude more than anything is going to take you through this. I am convinced that a positive attitude (and yours seems awesome!)is our biggest, baddest weapon against illness. There is nothing you can do, for your own well-being, that is better than convincing yourself that You. Will. Beat. This.
When my doctor told me there wasn’t much we could do and sent me to a Pain Management specialist who immediately started talking about spinal implants and complete loss of use, my immediate response was “Yeah, that’s not gonna happen. What else ya got” Luckily, mine was caught early enough that the spinal nerve blocks we did ended up pushing it away enough that my pain is now manageable by medication and I have regained full use of my hands. They were amazed. Set out to amaze your doctors and see if you can’t show then something new. That attitude of yours will help. 🙂
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Wow, Jill! I’m really glad you replied to my blog. You seem like you’ve come a LONG way and I love hearing you surprised the Docs-that’s rewarding in itself!
I’m also happy you shared your condition-I’m definitely going to do my own research and learn more about this. FA or not, you still experience similar frustrations as me and I respect your will to not give up and finding ways to manage your pain.
Thanks for your kind words!! I’m happy to have you as my blog follower!
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