Reflecting on 45 years of change since my Friedreich’s ataxia diagnosis

A few days ago, I celebrated my birthday. I love a party, so I love this occasion. It’s a reason to be with friends and family and eat cake. It is one of my happy places.

My birthday is also a reminder of my journey with Friedreich’s ataxia (FA). I think not just of my own life but of the entire FA community’s journey over the past 45 years.

I was diagnosed with FA just after my 19th birthday in 1981. I had been symptomatic for about four years prior to that, two of which I spent seeking a diagnosis.

Things have changed significantly in those 45 years.

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Changes for me

When I was diagnosed, there was no genetic test to confirm what was happening in my body. There were no Facebook groups, no easy way to find another family, no obvious place to ask, “Does anyone else understand this?”

Back then, FA felt like a sentence handed down in a quiet exam room. The words were clinical, but the silence after them was enormous. Suddenly, the future looked narrow and frightening. I did not yet know how much room I would still find inside it.

My FA journey has never moved in a straight line. There have been losses I did not want to accept: the first time I realized walking was no longer safe, the day I understood that a wheelchair would give me back more freedom than stubbornness ever could, the countless ordinary tasks that became complicated. I have grieved each change, sometimes more than once. But I have also learned that adapting is not the same as giving up.

That lesson did not come easily. It came from living day after day in a body that asks me to plan, pace, and forgive myself. It came from my husband, Dave, my family, my friends, my dogs, my garden, and all the small things that remind me I am more than a diagnosis. It came from humor, too, because sometimes the only choice is to laugh at the absurdity of it all before getting back to the hard work of living.

Changes for the community

In 1981, my family and I felt alone on a mountain, calling for help and hearing only our own voices return. Today, newly diagnosed families can find information, research updates, organizations, conferences, fundraisers, advocates, and most importantly, one another. That is not a small thing. For a rare disease community, connection can be as life-changing as any piece of equipment or any appointment with a specialist.

I remember when there was so little to say beyond “take care of yourself.” Now we talk about genes, clinical trials, treatments, standards of care, tissue donation, and research strategies. We talk with urgency because FA is still progressive and brutally unfair, but we also talk with knowledge. Hope feels different when data, doctors, researchers, advocates, an approved treatment, and families stand behind it.

At the same time, I do not want to make progress sound tidy. Living with FA is still exhausting. Accessibility is still inconsistent. Mental health still needs more attention. Families still carry fear. People still have to fight too hard for equipment, care, independence, and dignity. Our community has come far, but we are not finished, and I do not think any of us pretends otherwise.

Still, when I look back on these 45 years, I see more than disease progression. I see a young woman who was frightened and stubborn and determined. I see a family trying to make sense of something no one around them understood. I see friends who showed up, researchers who refused to look away, advocates who turned grief into action, and people with FA who kept defining themselves in fuller, braver ways than the disease ever allowed for.

Maybe that is what 45 years has taught me most: Progress is not one dramatic moment. It is a series of people refusing to stop caring.

So, yes, birthdays make me happy because there is cake and people I love. But they also make me pause. They remind me that I have lived much longer, and much more fully, than anyone knew how to imagine for me in 1981. They remind me that the FA community has grown from isolation into connection, from helplessness into advocacy, from silence into a chorus of voices insisting on better.

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.