From Diagnosis to Determination: My Friedreich Ataxia Journey
I was always clumsy. I could never walk in a straight line down the street, bumping into my parents and getting told to watch where I was walking. I even earned the high school superlative of “Most Likely to Trip at Graduation.” I thought it was funny, never imagining that my clumsiness could be a symptom of something far more serious: a rare, degenerative neuromuscular disorder.
At 17 years old, a neurologist and an MRI offered no explanation as to why I was so uncoordinated, so I moved on. It wasn’t until a few years later – when I couldn’t navigate stairs without a handrail, and I was falling even more – that I really felt there was something wrong.
It Took Six Years & Four Neurologists to Receive a Diagnosis
The first time I heard about Friedreich ataxia (FA) was following hernia repair surgery I had in my early twenties. The nurses noticed I wasn’t reacting to anesthesia normally and was having a lot of difficulty walking post-surgery. A neurologist came for a consultation and mentioned that I could have FA but would need genetic testing to confirm. Having no idea what this meant, I had a lot of questions – What are the symptoms? Would I need a wheelchair? What does this mean for my future? – but the doctor downplayed it, dismissing FA as “not a big deal.” Since my symptoms hadn’t been getting worse, I put it out of mind.
The numbness in my feet started a year later, and I mentioned FA to another neurologist. FA can lead to cardiomyopathy, a type of heart disease, so I went for an echocardiogram, a test that checks the structure and function of the heart. The results were normal, so the neurologist didn’t think I had FA. Not everyone with FA will develop cardiomyopathy so it shouldn’t have been assumed because my heart showed no signs that it wasn’t a possibility. I once again found myself without answers.
At this point, it had been five years since my initial major symptoms. I needed to understand what was happening to my body. I went for a consultation with another neurologist and finally received genetic testing. Six years after my first serious symptoms and just three weeks following my wedding, I received my diagnosis – I had FA.
Accepting This New Reality
I was relieved when I first received the diagnosis. I finally had a reason for what I was feeling. But that was quickly overshadowed when the doctor shared the details of what my future could look like – the progression of symptoms, need for a mobility aid, extreme fatigue. The future my husband and I had planned was going to be different, and we had to decide right away what we were going to do.
In our first few years of marriage, we had huge life changes thrown at us. My diagnosis. Moving closer to my parents for support. Pushing up our timeline to have children. Though my husband knew I could potentially have something wrong when we were dating, neither of us anticipated it was a progressive disorder like FA. It was a time of adjustment, and a grieving process as we came to terms with how FA would affect our relationship.
Looking to the Future
Being diagnosed with FA has changed a lot about who I am and the direction my life has gone. I am now a mother of two young children and while the experience is different than I thought it would be, I am able to make it my own. I also have pride in knowing my children will grow up learning how to treat people with compassion because of their experience with me as their mom.
While I know there isn’t a cure, I wanted to be able to slow the progression of my symptoms and have taking SKYCLARYS (omaveloxolone), the only available FA treatment, for nine months. I feel my speech has improved and, while I still use a mobility aid, I do not feel my symptoms have gotten worse. Some days are better than others, the fatigue can be bad, but I am also caring for two young boys, so that is also certainly part of it!
As I continue this journey, I want those newly diagnosed with FA to know this: your diagnosis isn’t an ending, it is a beginning. It’s the beginning of a new chapter, a chapter filled with unexpected challenges, but also with unexpected strength and resilience. You will be able to do amazing things, things you never would have imagined. In the end, I hope that people learn from my story that whether you have FA or another disease, you can either choose to wallow in your diagnosis or you can choose to find happiness elsewhere. I am choosing happiness. I also leave the following advice for others.
- Advocate for Yourself: The biggest lesson I learned was the importance of self-advocacy. It took years and numerous doctors for me to get a diagnosis, but I kept pushing because I knew something was wrong. Don’t be afraid to ask questions, get second opinions and constantly pursue answers. Trust your instincts and find the right doctors who can help identify and understand your condition.
- Embrace Flexibility: A progressive disease forces you to adapt to ongoing and unexpected changes. For example, when my husband and I got married, we planned to wait to have children. However, knowing that FA is progressive, we decided to move up that timeline. This wasn’t an easy decision, but we felt it was necessary. Be open to adjusting your plans – big and small – as priorities and your condition changes.
- Allow Time to Grieve & Adjust: Receiving a diagnosis like FA is significant and emotional so it is natural to feel a range of feelings, sadness, anger and fear. It was a shock when I was first diagnosed and a lot to absorb – not just for me but for my family, as well. It is OK to not be OK for a while, to sit in the grief. It is how you come out on the other side that matters. Allow yourself and those around you the time and space to process these emotions.
- Build a Support System: Living with a progressive condition isn’t a journey you take alone. Finding support is important. My husband has taken on a lot as a partner and a father, but we also moved closer to my parents to have others around who can help with the day-to-day things. Lean on family and friends, find a community that can be there for support.
- Continue to Create Connections: It’s easy to withdraw and isolate yourself after a diagnosis, but maintaining connections is vital for your well-being. After my diagnosis, I was in denial and wanted to shut myself away. Eventually, I connected with a coworker living with MS and I found that talking to him was helpful. Make an effort to stay engaged, pursue things that bring you joy and connect you with others. Even small interactions can make a big difference in combating feelings of isolation and loneliness.
About the Author:
Tiffany lives in Scottsdale, AZ with her husband and two boys. She works at her father’s company, a remote physiological monitoring company, in accounts receivable.
“I hope that people find inspiration from my story and choose to find happiness post-diagnosis. “
