My rare disease diagnosis story is long and complicated, and it's one I have shared before. But to acknowledge rare disease day, I thought I would share it again.
To do my story justice, I have to go back to 2011, when I was 8. I went to the pediatrician for a stomach bug, nothing to cause too much concern. My regular doctor was out that day so I went to one of the other doctors at the practice. As he was examining me, he heard a faint heart murmur. This was in 2011, and the science behind heart murmurs wasn’t as advanced as it is now. So needless to say, this faint heart murmur set off all the alarm bells. I was referred to a local pediatric cardiologist. After an echo, EKG, and holter monitor, I was diagnosed with hypertrophic cardiomyopathy (HCM). HCM is a rare heart condition that affects the left ventricle of the heart. The walls of the ventricle are thicker than normal and cause the heart to not be able to take in or pump out enough blood. HCM can also cause irregular heart rhythms, such as tachycardia. This was a lot for 8 year old Kate and her parents to absorb, and like I said, science wasn’t as advanced as it is now, so I thought life was over. I had to drop out of all sports and extracurriculars, and focus on my health at an age where I just wanted to have fun and be a kid. I was referred again to an HCM specialist in New Orleans and I went there every few months. At one of my appointments, I did a stress test on the treadmill. My doctor noticed my interrupted walking pattern. Then he asked my parents about it and found out I was a pretty clumsy kid. They just tried to chalk it up as me being distracted by “Shake it Up” on the TV during the stress test. He said, totally nonchalantly, “You might hear the words Friedreich’s Ataxia at some point, but don’t worry about it now.” Which, as parents, they totally worried about it. They did research and learned all the basics. And then life just moved on. But it was always in the back of their minds.
Fast forward to October 2015 (I was 12), I went on a class trip to Washington D.C. I was having trouble keeping up with my friends and kept bumping into them. At the end of the day, my feet would ache immensely. After I got back, my parents took me to the doctor. We all thought that my troubles could be solved with some physical therapy and strength training. We had always thought I was clumsy, we just thought I was at an awkward age and would eventually grow out of it. At the appointment, the doctor noticed that my reflexes weren’t working the way they should. He referred me to a neurologist because he knew something was going on, but didn’t know what. At the neurologist, I remember having a lot of tests done...reflex tests, walking in a straight line, following a light with my eyes, etc. I had an MRI, which required me to get my braces taken off for a few days. After all the results came back, the neurologist still wasn’t sure what was wrong.
I was referred to a pediatric neurologist after that. It took a few months before I could get an appointment, but when I went in, the doctor immediately sent me to have genetic testing done. When the results came back a few weeks later, I went back into the office and was officially diagnosed with Friedreich’s ataxia (FA). This was in May of 2016.
FA is a rare, degenerative, neuromuscular condition that only affects around 5,000 people in the US and 15,000 people around the world. FA is an inherited disorder that affects the production of a protein called frataxin in the mitochondria. Most people with the disease are diagnosed between the ages of 5-15. Onset of symptoms can occur at varying degrees of severity from childhood to adulthood. FA is a multi-system disease, affecting mobility, fine motor skills, vision, hearing, heart function, and various other systems in the body. FA does not affect cognitive ability.
The next few months went by in slow motion. I was terrified of the diagnosis. I didn’t 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. My parents immediately started me in physical and occupational therapy. Only my family knew about my diagnosis and we were all trying to slowly process it.
Behind the scenes, my parents were learning about FA and about FARA, the Friedreich's Ataxia Research Alliance. FARA is a nonprofit devoted to finding a cure for FA by funding research, raising awareness, and connecting the FA community. My parents introduced me to FARA, and as I learned about the organization, I slowly became more comfortable with my diagnosis. In the fall, I started participating in a FA research study in Tampa at USF.
Early in 2017, I made the decision to start an Instagram account that followed my journey with FA. It was a big decision, but I am so glad I made it. And the rest is history!