A Timeline of My Friedreich’s Ataxia Progression, Part 1

First in a series.

As I continue my journey with Friedreich’s ataxia (FA), I’m frequently asked questions such as: “How long have you been going to physical therapy?” “When did you start the clinical trial?” “How long have you depended on a walker?” It seems that people with and without FA are seeking a deeper understanding of what it means to live with this degenerative neurological disease.

So I decided to share a timeline of my tumultuous journey in a three-part series that will offer a glimpse of my most defining moments with FA, including the highest highs and the lowest lows. My goal is to answer common questions I receive and ease the heavy feeling of isolation FA patients often experience. I also hope that by reviewing my journey, I’ll better understand how I got to where I am, and I’ll be better prepared with a clear vision for my future.

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December 2, 2020 Columns by Matt Lafleur

My Diagnosis Isn’t the Entirety of Who I Am

Early signs

I had a lovely childhood full of laughter, sports, travel, celebrations, campouts, swimming, friends, and family. I was completely healthy and life was uncomplicated.

I met the love of my life, Kyle, when I was a sophomore in high school. We dated for the remainder of high school and college before marrying in 2009.

Married life was a continuation of my dreamy childhood; Kyle and I were blessed with opportunities, adventures, new traditions, and shared interests. One of those shared interests was sports, particularly the coed softball and sand volleyball leagues we participated in year-round.

In 2013, we noticed some troublesome developments when I’d participate in sports, work out, or do anything remotely active. I was slower, less sure-footed, weaker, and I’d tire easily. I was falling in sand volleyball when I wasn’t purposefully diving for the ball. My body wasn’t responding the same way when I’d go out for a jog, chop vegetables, carry heavy laundry baskets, or sing along to fast songs. I knew that a 20-something who has been healthy and physically active her whole life doesn’t start losing her balance and becoming weak, slow, and tired for no reason.

In March 2013, an ear, nose, and throat doctor quickly ruled out the inner ear problem Google had convinced me I had, and targeted exercises weren’t fixing the problem. So I decided to go to my primary care doctor, who’s also an internal medicine diagnostic specialist, to discuss my concerns. She agreed that something was amiss and said it was probably neurological, but she wanted to rule out any deficiencies, intolerances, and abnormalities with simple bloodwork first. All of the results looked normal, so she referred me to a neurologist.

After an extensive conversation about my medical history and recent concerns, the neurologist performed a thorough exam. He said, “I think something is going on here, but I’m not sure what yet. It could be an allergy, a tumor, a movement disorder, or something genetic.”

My mom, who came to the appointment with me, and I both said, “Well, it can’t be genetic because everyone in my family is fine.” My doctor assured us that we would figure it out together.

The diagnosis

The next few months brought a slew of bloodwork, MRIs, X-rays, appointments, Googling, and worrying. Everything was coming back “normal,” but we all knew that what was happening to me wasn’t normal.

In July, a tech came to our house for yet another blood test. This time, they planned on conducting a full genetic panel. On Aug. 19, 2013, my parents, Kyle, and I went to my neurologist’s office, fully prepared to hear that everything had come back normal.

Instead, the doctor said, “Kendall, I was afraid that this might be the case: You have Friedreich’s ataxia.” He looked just as shellshocked as us.

My body and mind froze. No one knew what to say or do next. The doctor handed us a six-page printout that he had scanned from one of his medical textbooks; that was the extent of his knowledge about my disease.

On the way home, I texted my closest friends and family who had been praying over my appointment with me. “Leaving the neurologist. Just got diagnosed. I have Friedreich’s ataxia.”

I numbly replied to my friends’ worried inquiries with the insufficient response of, “I don’t know what Friedreich’s ataxia means. I don’t know what is going to happen and when. I just know it’s genetic and progressive. So I will just get worse, end up in a wheelchair, and eventually die of heart failure.”

My village was trying so hard to be supportive, but they were also scared and sad. Just about every person asked, “Aren’t you getting a second opinion?”

I responded, “FA isn’t that kind of a thing. It’s a very accurate and specific blood test; you either have it or you don’t.”

In one fell swoop, my diagnostic journey had culminated in a staggering life change that I had no idea how to navigate. I had my diagnosis; what now?

Next week, I’ll outline how my numbness transformed into anger and then motivation to become an FA advocate and a mother.

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.