My Journey to a Friedreich’s Ataxia Diagnosis
I am a freelance columnist for Friedreich's Ataxia News. I was recently published on my column, My Darling Disability, and I wanted to share it here, too. You can either read it by following this link, or just keep scrolling below.
From the time we are toddlers, we start dreaming about the future. We want to be fire fighters, teachers, rock stars, race car drivers, or in my case, a zoologist. There are so many exciting possibilities and we want to do them ALL! As we get older, we try different activities to see what we like. We craft, we play sports, we bake, we take different classes, we imitate our parents and friends. We see what we are good at and what we enjoy, and then start planning for our futures. We study specialized courses in college or train for certain jobs. We work hard to make our future happen.
But what if all of that work; all of those plans, suddenly and drastically change? What if that future you have been working your whole life towards is (seemingly) wiped away in one scary blink of an eye?
That’s what happened to me at the age of 25. I was diagnosed with Friedreich’s Ataxia in 2013.
Let’s rewind a couple of years for the full story.
All through school and college – I was just like everyone else, physically and in every other way.
I had a passion for swimming and joined summer league the first year I could. I swam competitively through my senior year of high school. I even got a waterproof cast the summer I broke my arm between 1st and 2nd grade so I could keep swimming!
I played softball during elementary and junior high. I played volleyball in junior high and half of high school. I was on the track team in high school where my events were long jump, high jump and triple jump. I danced in many classes and recitals. I found a passion for cheerleading in junior high and did “competitive cheerleading” until I made the squad in high school. In other words- I was athletically blessed and loved trying my hand at everything. (I’m allowed to brag, these were my glory days!)
I met my high school sweetheart, Kyle, my sophomore year. I knew by my senior year that I was going to marry him. What can I say – he stole my heart. He was kind, smart, supportive, competitive, passionate, and oh so handsome. We always had adventurous dates and made big, big plans.
Little did I know – I was harboring a sleeping giant. FA provided little hints that I wrote off at the time. Not having reflexes used to be my “party trick.” Friends would knock on my knees to try to make it jerk and we would all laugh that it didn’t happen. I never even thought to ask a doctor about that.
I kind of took an “athletic break” in college. With the exception of my semester of racquetball and jogging for “P.E.” credits, I worked out occasionally, but really just enjoyed being young, healthy and carefree.
Kyle and I got engaged in July 2008 and set a wedding date for November 2009. During our engagement, I graduated early from college and started planning our wedding. A big part of the plans were dance lessons. I was a cheerleader, after all – my first dance had to be beautiful! I picked out my gorgeous, perfect wedding heels and our song (Cross my Heart by George Strait).
As I mentioned – Kyle and I have always been competitive. I was ready to wow him with my ability to pick up choreography. When we started dancing, I wasn’t doing great. I was getting tripped up. I was stepping on Kyle or he would step on me because I didn’t move my foot to the right place. I thought, “I’m just out of practice.” We had only danced at clubs, parties and dance halls – we’ve never done choreography. We’ll get there. We kept practicing but I wasn’t getting better. I blamed the heels. I blamed Kyle’s partnering. I blamed being out of shape. I never dreamed that this was the beginning of a very serious medical journey.
After we got married, we were blissfully young and care free. We went on big walks, we played beer-league softball and sand volleyball. We pushed each other at the gym (I spent many an hour on the stair climber at Gold’s Gym.) We were young and in love with nothing holding us back.
Then I noticed I was falling more in sand volleyball. I wasn’t comfortable sprinting for balls in the outfield because running was strangely hard. I chalked it up to my age or lack of training. One evening at softball, I fell getting into my stance at the batter box. I just knew that that wasn’t normal. Something was going on. I decided to start pursuing medical answers for my poor balance at the age of 23.
After the evidence piled up and I accepted that someone who has been extremely active all their life doesn’t just suddenly become uncoordinated, I decided it was time for some answers. When I Googled “loss of balance,” the internet convinced me I had an inner ear problem.
When I saw the ENT, the doctor said “there’s definitely something going on here, but from what I can see, your ears look perfect. We can do an MRI just to double check.” When that MRI came back fine, I stopped looking for answers and just moved on.
I didn’t play the next season of softball but I kept playing sand volleyball. I continued to work out really hard to try to train my balance. I had a lot of trouble with my ankles growing up (miscellaneous injuries like bone chips and sprains.) Like I said... I ignored the signs. But I started to think that maybe I just had weak ankles? I did a lot of stretching and work on balance boards to try and build them up. But that didn’t work. I was still unbalanced.
I clearly remember two incidents in late April of 2013. One evening, I enjoyed a margarita while out with a big group of family and friends. I wasn’t “drunk,” but I’m a lightweight. One margarita is usually enough to affect me a little. When we were leaving, one of our party noticed I was walking weird. She was joking about how it’s good we are leaving because I can’t walk straight and I’m picking my feet up weird. “Time to cut Kendall off!” It was done in a lighthearted joking way. I laughed it off but secretly thought “oh no... my balance is getting worse. It’s getting noticeable.” I was terrified and mortified.
That next week, I decided to take my dog for a run instead of going to the gym. We did a warm-up walk through the neighborhood to get to my favorite path around the high school stadium. I stretched and then... nothing. I literally couldn’t remember how to make my body start running. I couldn’t make my legs do that. I walked the dog home and immediately went to the computer to find a doctor. I found an internal medicine GP with amazing reviews and booked an appointment for the next week.
At my appointment, I went through my first neurological exam. It was terrifying to see how symptomatic I was. She agreed that something was going on and said that it was probably neurological, but she wanted to rule some things out first. She drew blood to test for an array of deficiencies, intolerances and abnormalities. The ones I remember are copper, gluten, vitamin D, and about 20 others. All of that came back normal so she referred me to a neurologist.
There, I did another, more thorough exam. My mom was with me. I remember the doctor asking if I had had any speech changes. I said “not that I’ve noticed.” My mom said “well, she talks slower than she used to, but we thought she was just maturing beyond typical high-school ‘valley girl’ talk.” The doctor said, “I definitely think something is going on here. I’m not sure what. It could be an allergy, a tumor, a movement disorder or something genetic.”
My mom and I both said “well, it can’t be genetic because everyone in my family is fine. What genetic possibilities are there?” I vaguely remember him mentioning a specific disease. I got home that night and Googled “Frederick movement disorder.” I was redirected to the Friedreich’s Ataxia Wikipedia page. It terrified me but I thought, “no way that’s me. I’m 25. This says people get symptomatic at 13-17 on average, and are in a wheelchair by their 20s.”
I went for my follow up appointment to discuss and plan additional testing. My doctor assured me that we would figure this out together and that everything would be OK.
He ran an even more thorough blood panel. I convinced myself it was an extreme form of Celiacs disease that, when unchecked for so long, can have neurological affects. I prayed it was as “easy” as going gluten free. The panels all came back normal.
Next up- MRI. This time, they did my head, neck and back. I convinced myself it was Multiple Sclerosis (MS.) Or a tumor. But those came back normal, too.
The next week, a lady came to my house to draw blood to test for genetic diseases. The office called in the morning on Monday, August 19, 2013 to schedule an appointment for that afternoon to discuss my genetic panel results. Kyle and my parents came to the appointment with me.
“Kendall, I was afraid that this might be the case. You have Friedreich's Ataxia.”
My doctor looked as shell shocked as us. He had studied FA in his medical school textbooks, seen one patient during his residency, but he had never treated a patient with FA. He printed off a 6-page document about FA, handed it to me and said, “I’m sorry but this is about all I know about FA.” He said that he didn’t really know how to treat me going forward or answer the millions of questions I was bound to have.
We were silent. No one knew what to say. I looked at the document without really seeing it. I felt like this had 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 Kyle came over, put his arm around my shoulders and said, “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.)
When we were leaving 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:
I’m going to be in a wheel chair, and then FA will kill me
I guess Kyle and I aren’t going to have kids now, because I can’t leave him a widower with a houseful of kids
I remember replying to my friends worried inquiries with a numb and 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 its 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?” to which I said, “FA isn’t that kind of a thing. It’s a very accurate and specific blood test and 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 laying 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 were frantically researching. They were desperately seeking information about FA, treatments, local doctors who had ANY experience with FA, and so on. They were also updating my extended family. They asked for everyone to respect my privacy and give me time and space while we all digested this. I think they were trying to spare me from everyone looking at me the way the receptionist did.
They found FARA (the Friedreich’s Ataxia Research Alliance) and learned that their 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 was meeting Ron Bartek, President and Co-Founder of 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 accepting FA.
We all quickly realized that life would never be the same. It would always be complicated by FA. But that certainly didn’t mean that 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 always wanted: the life I deserve.
The FA community is one of hope and passion. I have met the most amazing and inspiring people in this community. 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, or even 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 fighting FA everyday. But the fight is so worth it because life can be SO BEAUTIFUL, even with FA.