The Against-the-Odds Impact That Being Rare Has on My Life

Friedreich’s ataxia (FA) is incredibly rare. So rare, in fact, that I’d never even heard of it before I was diagnosed with it in 2013. Getting that rare, 1-in-50,000-people diagnosis (given to an estimated 2,500 people in the United States) has had a huge impact on my mindset.

I received this diagnosis after pursuing answers for some seemingly random neurological symptoms — specifically, worsening balance and coordination, fatigue, and weakness. How could I have a rare genetic disease that I’d never heard of, especially when everyone in my immediate and extended family is healthy?

Even though I had no idea what secret path my DNA was harboring for my life, I always felt “different,” just like most developing and changing adolescents and young adults. Sometimes I felt different in a good way, like I was uniquely seeing things; other times my differences felt foreboding. I internalized a lot of my feelings about these differences and began to experience anxiety.

When I would face adversity, such as a challenging scenario, health scare, or a dangerous situation, and my mind would conjure up the worst-case scenario, I would calm myself down by thinking through the odds. I would talk myself out of panic by reminding myself that “odds are, that’s not the case.”

Recommended Reading

July 5, 2022 News by Lindsey Shapiro, PhD

DMF Plus Antioxidant Resveratrol Shows Benefits in Models of FA

Since my FA diagnosis, however, I’ve had a hard time calming my fears that way because I got the “against-the-odds diagnosis.” It’s still so incredibly difficult to accept that FA is my reality, and then other times, I just feel so surrounded by FA, I forget that there was a time when I didn’t even know FA existed.

Accepting the impact of this diagnosis has been, and continues to be, a roller coaster. I sometimes feel like FA is my get-out-of-jail-free card because I’m already dealing with so much from FA that it’s unlikely I’d face any other health hardship. But on the flip side, I think about how quickly my seemingly random neurological symptoms turned into a diagnosis that completely changed my life. If it happened before, it can certainly happen again.

While most effects of receiving a life-altering diagnosis seem to be negative, there have been a few positive effects. For instance, I now fully believe in the power of being your own advocate. Even though the ear, nose, and throat doctor I first saw on my diagnostic journey dismissed my symptoms after discovering that they weren’t related to my inner ear, I kept fighting for answers because I knew with every fiber of my being that something wasn’t right.

And even my adolescent anxieties prepared me to handle a diagnosis like FA. If I hadn’t been so practiced in understanding my emotions and figuring out what made me feel different, I’d have given up my search for answers and just spiraled into fear and despair.

I know that I’m rare, and I’m uniquely qualified to handle this life. I have my “four F’s”:

Feelings: I know the vital importance of acknowledging, naming, processing, and accepting the feelings that I experience in life. I’m far from perfect at it, but I strive to keep an updated inventory of my feelings to move forward productively in life.

Friends: My friends encourage me, challenge me, accept me, and accommodate me. They make me feel “normal,” and then hold my hand through the moments when I wrestle with how abnormal I feel.

Family: Not only are my parents the most encouraging, generous, kind, and supportive people on this earth, but my extended family is just as wonderful. Then there is my husband, Kyle, who is my favorite person I’ve ever met, and our two children, Brooks and Collins. They motivate me in ways they will never know, and I love them so much that I think my heart might explode sometimes.

Faith: I know that my story will have a great ending and that it will be used for God’s glory. I know that the troubles of this world are nothing compared to the joys of this world and heaven. I know that I can handle anything that is thrown at me because I’m never walking alone.

Note: Friedreich’s Ataxia News is strictly a news and information website about the disease. It does not provide medical advice, diagnosis, or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or another qualified health provider with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website. The opinions expressed in this column are not those of Friedreich’s Ataxia News or its parent company, Bionews, and are intended to spark discussion about issues pertaining to Friedreich’s ataxia.