Why I trust parents to make good decisions for our children with FA

My daughter Amelia, age 12, almost missed being diagnosed with Friedreich’s ataxia (FA) because of me. I think about that sometimes when I need reassurance that I’ll put Amelia’s needs before mine while navigating her medical care.

It was the summer of 2020, and I was sitting with her cardiologist. He was proposing one more consultation with a new genetics doctor. After our years of pursuing an answer, he thought he knew what was causing Amelia’s symptoms.

I looked over at Amelia, who was 8 at the time, with her small, slight frame. She was hunched over her iPad with noise-canceling headphones dwarfing her head and tiny ears. A small smile lay on her face as she was engrossed in whatever was flashing across the screen. Every time she shifted her legs, her high tops would twinkle with small flashing lights. At that moment, I didn’t just see her; I saw the chase.

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Working for a diagnosis

Since 2017, we’d tested, traveled, waited, and documented symptom after symptom. Amelia had traveled across state lines not just for family vacations with sparkling beaches, but to have needles pushed into her arms, pass long hours in lobbies, and comply with strangers in white uniforms giving her sometimes uncomfortable and boring instructions. She’d been sedated and discussed. Her eyes were fascinating, her symptoms perplexing.

While some parents cheered their children’s artwork or other accomplishments, I was the proud parent of a child who completed a Goldmann visual field (or Goldmann perimetry) test at age 7 while at the National Institutes of Health. At the time, we were told that she was the youngest child known to complete this test. She was an anomaly in so many ways.

Though the doctors and medical professionals saw a child who was compliant and determined, I saw something different. I noticed the tears she tried to keep from falling in hospital rooms. In the quiet of bedtime, I listened to her ask why adults talked about how easy their appointments were when hers were so hard. I watched her struggle to self-regulate when appointments ended, leaving her so tired. We did our best to protect her youth in the process, but there were limits to what could be done.

During our diagnostic odyssey, we were desperate. For three and a half years we were actively engaged in trying to gain a diagnosis on a monthly, weekly, and sometimes daily basis. All that work now fits nicely into a filing cabinet, hundreds of pages and notes documenting a mother’s love and drive to do all she could. Hidden in those pages is a childhood.

When we had that meeting with our cardiologist in 2020, I truly saw my child — not just her symptoms or test results, but the whole person. Here it was, the possibility for answers, and my response was “Maybe.”

I wanted two things: reassurance that her full medical file would be reviewed before the meeting and that everything would be done remotely so Amelia felt minimal impact. My conditions were met, and the rest of the story ends with that last noninvasive test and confirmation of the GAA trinucleotide repeat expansion that causes FA. With that ending, we found new beginnings.

Looking ahead

Many clinical trials are on the horizon, and I echo many sentiments of my friend and fellow columnist, Matthew Lafleur. I feel the future opening up as FA continues its progression in our home.

Sometimes I look at clinical trial requirements, drug side effects, and risk exposure. I wonder if, when Amelia is eligible for these trials, I will be the parent, adviser, and advocate she needs. Will I put my desires aside and focus on those of my daughter? Can I shove my fears into the back seat and empower Amelia to take the wheel, providing all the support and information she needs to guide her own life?

That is, after all, what being a parent is all about. Once these children come into our lives, it stops being about us.

I think back on all I’ve done, all I’ve sacrificed, and all I’m willing to do for both of our children. I take a hard look in the mirror and answer my questions with a definitive and resounding yes.

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.