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FARAFARA Cure FA

Emily Penn

EmilyI was running track my freshman year of high school and developed some pain in my left knee. The orthopedic physician diagnosed me as having tendonitis. He told me to rest for a week and ice it frequently. He noticed that I had some slight scoliosis and that my walking gait was a little “off”. He referred me to Scottish Rite Hospital in Dallas, TX where they ran numerous tests, including a genetic blood test. I turned 15 years old and a few weeks later, my mother received a call from the neurologist. We set up an appointment as a family to learn what the results meant.

I remember sitting in that small, sterile office anxiously waiting for the doctor to tell me everything was going to be okay. He came in the room and sat behind his desk with a pen, a blank sheet of paper, and a folder that had my name on it. My mom, dad and I were sitting on the opposite side of the table from him watching him draw. He was explaining how Genetics 101 worked. When both parents carry a defective recessive gene, their offspring have a 25% chance of receiving both defective genes. I have two brothers, neither of which have Friedreich’s Ataxia (FA); why did I? I began to sink in my chair as he stated what my future looked like, because there is no known cure to date.

Two years past and I was still numb with the depressing news. I shrugged off the comments of why I walked a little funny and replied with a simple “I don’t know” or “just because” and moved on. I kept the news very confidential; between family and close friends. I was afraid; afraid that people would feel sorry for me. So I kept living in a world of denial and bottled up my emotions. But sure enough, I came face to face with reality. I finally had to admit to myself that I had Friedreich’s Ataxia.

After graduating high school, I got involved with the RideAtaxia Dallas which is a cycling event that raises awareness and funds for research to find a cure for FA. There I met several individuals and their families who also suffer from this condition. It was an eye-opening experience for me and one that gave me a new sense of purpose in life.

I got very interested in riding a recumbent tricycle and through the generosity of two organizations, they gifted me with one my own. I ride my trike almost every day and train so that I can participate in various bike rides across the US. My passion is to educate the public about FA and help with fundraising efforts, so that our dedicated physicians and researchers can continue their quest to find a cure.

I currently attend college and am working towards a degree in public relations. I realize in order to create the life of my dreams I must continue to push forward. It’s hard to believe, but life has actually become immeasurably better because of this journey. Even though it appears to others that I am losing so much, they have no idea that I am gaining so much more. I often reflect on the following statement: If you have faith, then you have hope. And if you have hope, you have everything.

Emily

 

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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