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FARAFARA Cure FA

Stephanie Magness

It’s probably pretty obvious that my life has not completely turned out how I hoped and dreamed it would, but really, who can say their life has traveled this journey exactly how they thought it should?

Before 1994 there wasn’t any indication that my life wasn’t going to read like the most perfect fairy-tale ever. Why shouldn’t it have? I had a great childhood filled with a wonderful family and good friends. Of course hindsight is always 20/20, and there were small, subtle signs pointing to a different kind of life. But nothing to make me, or anyone else, think the fairy-tale ending might crash and burn with a scoliosis diagnosis during a P.E. screening in 7th grade. That’s how it all started, a routine exam in the gym locker room a few months before my thirteenth birthday suddenly morphed into a day I will never forget. Next stop was my pediatrician who pointed out what my parents had already begun to fear…there was something a lot more serious going on to cause my spine to twist into an “S” so quickly that no one had noticed it. The word “neurologic” must have been spoken in that room because a few trips to a couple different neurologists came next.

 

The Friedreich’s Ataxia gene had not yet been identified in 1994 so there was not a blood test available, instead a nerve conduction study and several other exams and tests led to the diagnosis of Charcot- Marie-Tooth (CMT). Life kept going, I had spinal fusion surgery that summer and then tendon-release surgery on my feet the summer after that. I was always clumsy, and I continued to get more and more clumsy, further unbalanced, but that made sense with the knowledge that I did have a neurological disease. A couple years after I graduated high school, my parents’ began seeking second and third opinions since it didn’t seem that my progression was lining up with the diagnosis. A few more neurologists later and the truth was finally brought to light, I had Friedreich’s Ataxia (FA).Stephanie

Friedreich’s what?? I think that was pretty close to what my parents’ and I said when we heard this new explanation for why I was having so much trouble walking and keeping my balance. I have to admit that I wasn’t at all prepared for learning about the severity of my new reality. A wheelchair, severe loss of coordination, slurred speech, and a shortened life-span were no longer unimaginable but expected.

Unbelievable. That’s what I was thinking as I sat staring at the bleakness described on my computer screen. And to be completely honest, it did take me a couple years to come to terms with my new diagnosis. Now I can say that I have accepted it, but have not let it stop me. I followed through with my education and in 2009 earned a bachelor’s degree in psychology with a minor in religious studies and a concentration in substance abuse treatment. I have really great friends and family (and my sweet dog, Ruby) that I love spending time with, they see me first and the wheelchair second. Since 2006 I have been actively involved in fundraising for FARA. I have purpose and joy, and my life is not a reflection of bleak words typed on the internet.

Living with FA is anything but easy; I am often frustrated by the amount of time it takes me to do normal everyday tasks and the list of things I can no longer do without assistance gets a little longer every year. However, God has painted the most beautiful silver linings on the storm cloud that is FA, I’m so thankful!

The hope of a cure for FA is what has drawn me into fundraising and given me the courage to allow anyone to see into the parts of my life that I was once embarrassed and afraid of, parts I tried so hard to ignore and keep hidden. Stephanie

FA has taken so very much from me and I hope that I can be a small part of the efforts working so hard to end this disease, making sure that one day (hopefully soon!), FA will no longer be able to take anything from anyone.

Everyone’s life goes in directions that don’t line up with the fairy-tale, but the choice is yours. How are you going to live your life when everything seems to be going according to plan and then when the plan suddenly takes a 180? It’s definitely not easy, but you can use the words of your “different” story and LIVE them into a gripping novel that is so much better than any fantasy could ever be.


About the Author

The FARA Ambassador Program

The FARA Ambassador Program

The FARA Ambassadors are a united team of patient volunteers living with FA who are committed to supporting FARA in the search for a treatment and cure.
 
Together we seek to know more about FA, and FARA so we can be prepared to represent the community when the opportunity arises; speaking at events, to volunteers, potential donors, scientific groups, pharma partners, media interviews and other awareness and fundraising opportunities. We believe support is key to continued success toward our ultimate goal of treatment and a cure. Participants in the FARA Ambassador Program are passionate about building and upholding relationships within the FA community.
 
The FARA Ambassadors are positive, supportive, peer representatives for the FA community, actively raising awareness and funds for FARA. To learn more about the FARA Ambassador Program or to have a FARA Ambassador speak at your event, please contact: info@cureFA.org.

 

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