My Diagnosis Story:
Hey, I'm Kate! I was diagnosed with Friedreich’s Ataxia in May of 2016 (right before I turned 13). In October of 2015, my class went on a trip to Washington, D.C. I had trouble keeping up with my friends. I kept bumping into people, and at the end of day, my feet would hurt so bad. They would feel like they were going to fall off my body. After we returned from D.C., my parents took me to the doctor. We all thought that my troubles could be solved with some physical therapy and strength training. At my exam, the doctor noticed that my reflexes were not working the way they should. He sent us to a neurologist because he knew something was going on. At the neurology office, I remember having a lot of tests done...reflex tests, walking in a straight line, following a light with my eyes, etc. The neurologist wanted me to see a pediatric neurologist because he wanted to get a second opinion. It took us several months to get in to see the pediatric neurologist. Fortunately, the doctor had some experience with FA and had a good idea of what was going on with me. He immediately ordered genetic testing. I also had to have some other bloodwork and an MRI. A few weeks later, we received the official diagnosis of Friedreich's Ataxia. The whole process took about 5 months. Because FA is so rare, many doctors are not familiar with it, and it can take some patients years to be diagnosed.
I was terrified of the diagnosis. My parents immediately started me in physical and occupational therapy. I did not want anyone to know what was going on or what was to come. I made up reasons for the doctor visits, medical tests, and my clumsiness. I did not tell anyone about the therapy every week. Behind the scenes, my parents were learning about FA and about FARA, the Friedreich's Ataxia Research Alliance. FARA is an organization devoted to curing FA. FARA was founded by parents of an FA patient. Not only does FARA work tirelessly to cure FA, they also provide education about FA. One of the best things they do is create opportunities for interaction between FA families. My parents introduced me to FARA, and as I learned about the organization, I began to change. I started to interact with FARA, and I slowly became comfortable telling a few of my friends what was going on. I began participation in a research study in Tampa. For a while, I continued to discover new things about FA. I felt more positive about the whole situation. I wanted to help others, but I still did not want everyone around me to know all the details.
Early in 2017, our family decided to participate in a large cycling fundraiser for FARA called rideATAXIA. I made the decision to start an Instagram account that followed my journey with FA. I knew this meant that everyone would know what I had been hiding for over a year, but I was ready. It was a big decision, but I am glad I made it. I have received so much support since that time. I could never make it through this diagnosis without my family and friends, and I am incredibly blessed to have so many people in my life helping me.
What I'm Doing Now:
last updated: January 2022
Hi everyone! Since making this website, a lot of things have changed, so I thought I would share with you what my life looks like now.
I was diagnosed with Friedreich's Ataxia almost 7 years ago (which is absolutely crazy to think about). I am a full-time wheelchair user now. Most of the time, I use a motorized chair called the Whill CI because it helps with my fatigue level and increases my independence. I still have the ability to walk short distances with a lot of assistance. My heart has developed mild hypertrophic cardiomyopathy, but it is not something that my doctors are very concerned about. We just keep a close eye on it in case of any change. My speech, hearing, and vision are only mildly affected.
Now onto the exciting stuff that is not FA related!
I am a sophomore double majoring in supply chain management and marketing at the University of Arkansas. I'm living a six hour drive away from my dad, so it is definitely a big change! Since being in college, I have learned to live completely independently and not let my disability stop me. I do laundry, shower, clean, and cook (still not the best at cooking lol) all by myself! Living independently has been the most rewarding experience and I am so glad that I chose to do it. I have met so many amazing people while at college and have learned so much. I am in a sorority on campus (going through rush with a disability was a wild experience) and am very involved there. I am the happiest that I have been in a while and have gone through a lot of personal growth.
I still keep up with my social medias, so definitely go follow me there to keep up with what I am up to! I am a lot more busy now than I was in high school, so my posts are a little less consistent, but I still try to keep posting a priority. Thank you so much for taking the time to check out my website and I hope to see you somewhere else on the Internet!
FAQ:
Does having a rare disease limit your social life at all?
Not really! I am pretty much your average college student, I just happen to be disabled. Sometimes, the fatigue that is a symptom of FA can be a struggle because I do not always have the energy to go out and hang out with my friends. But mostly, I just live my life as if FA weren't there.
Do you still go to therapy?
YES! I go to a physical therapist once a week while I am at school. I also go to a counselor once a week. When I am home, I go to a physical and occupational therapist there and continue seeing my counselor through telehealth.
Where do you have to travel to go to the doctor?
I have 4 amazing doctors that work together to figure out what is best for me! I have a cardiologist and an orthopedist in New Orleans at Oschner's. I also have a neurologist that specializes in FA and another cardiologist at Children's Hospital of Philadelphia.
Can you still walk?
Yes. I can still walk with a walker or with human support. However, I do not walk outside of physical therapy anymore because I am prone to fall and it is very exhausting for me.
Can you drive?
Yes, I use hand controls!
Do you have any sort of muscle pain?
Yes. I get bad leg cramps, mostly at night. When I am in my chair or not moving for a long time, my hips and legs will be sore and cause sharp pains.