My Journey to a Friedreich’s Ataxia Diagnosis, Part 3

Third and final in a series. In a previous column, I discussed the tests I underwent to diagnose Friedreich’s ataxia.

“Kendall, I was afraid that this might be the case: You have Friedreich’s ataxia.”

My doctor looked as shellshocked as us. He studied Friedreich’s ataxia (FA) in his medical school textbooks and observed one patient during his residency, but he had never treated a patient with the disorder. He printed off a six-page document about FA, handed it to me, and said, “I’m sorry, but this is about all I know about FA.” He said he didn’t really know how to treat me going forward.

We were silent. No one knew what to say. I looked at the document without really seeing it. This has to be a nightmare, a cruel joke, or a scene out of someone else’s life. Time froze, and so did I. Everyone just stared at me.

Then my husband, Kyle, came over and put his arm around my shoulders. “It’s OK, baby. We can fight this.”

I snapped back, “No, we can’t. This isn’t cancer; there’s no treatment or cure. It’s just going to take away all of my abilities until it kills me. I can’t fight that.” I still feel horrible about snapping at him like that.

As we left that appointment, the receptionist looked at me with the saddest eyes. I felt like I had “Genetic Defect – Terminal” tattooed on my forehead.

On the way home, I texted my closest friends and family. I simply said, “Leaving the neurologist. Just got diagnosed. I have Friedreich’s ataxia.”

The only thoughts I remember having were:

1. I’m going to be in a wheelchair, and then FA will kill me.
2. I guess Kyle and I won’t have kids now because I can’t leave him a widower with a houseful of kids.
3. Why me?

I remember replying to my friends’ worried inquiries with a numb, 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.”

I was scheduled to start my new job later that week. I decided to go ahead and show up, figuring the distraction might be good. Doing something productive had to be better than lounging around the house, squeezing my dog, and crying. I called my doctor and he prescribed anti-anxiety medication for me, so I got back to life.

Meanwhile, my parents frantically researched, desperately seeking information about FA, treatments, local doctors with any experience with FA, and so on. They also were updating my extended family. They asked for everyone to respect my privacy and give me time and space while we all digested the news. I think they were trying to spare me from everyone looking at me the way the receptionist did.

They found the Friedreich’s Ataxia Research Alliance (FARA) and learned that the annual scientific symposium at the Children’s Hospital of Philadelphia was the following month. My dad went and said it was “like drinking through a firehose.” He took detailed notes and brought home as much hope and information as possible.

My favorite story of his from the symposium is about when he met Ronald Bartek, president and co-founder of the FARA. He said Ron hugged him like a lifelong friend and said, “Welcome to the Family. I’m sorry for the circumstances that brought you here, but I’m glad to know you.” And so began our journey of FA acceptance.

We all quickly realized that life would never be the same. FA would always complicate it. However, that didn’t mean life was over. We are armed with knowledge, prayer, and a dedicated team of brilliant professionals working tirelessly against FA. Meanwhile, my job is to fight every single day for the life I’ve always wanted — the life I deserve.

The FA community consists of hope and passion. Through it, I have met the most amazing and inspiring people. As my friend and fellow FA patient, Madelyn Frederick, said, “The biggest monster (FA) entered my life, and I had no way of defeating it, nor the capability of shrinking it. The only thing I could do is figure out how to grow bigger than it.”

Nothing can prepare you for a diagnosis like FA. But it isn’t the end. Life goes on. It’s hard, frustrating, and sad to fight FA every day. But the fight is so worth it because life can be so beautiful, even with FA.

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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.