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.
Does having a rare disease limit your social life at all?
Not really! I am pretty much your average teenage girl, 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 an amazing physical therapist and an incredible occupational therapist once a week. I also go to counseling twice a month.
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 my house or 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.