My Diagnosis Story

My name is Alexis, I was diagnosed with a neurological disorder called Friedreichs Ataxia when I was 19. Friedreichs Ataxia is defined as, "a rare, inherited neuromuscular disorder that primarily affects the nervous system and heart. It's characterized by a progressive loss of coordination and muscle strength, leading to various symptoms like poor balance, difficulty with speech, and eye movement issues." I started showing symptoms at age 16 but they came off as being clumsy until age 19. I then started noticing a larger fear of stairs and unable to get around without using someones arm or relying on walls. I saw my primary care doctor who suggested I see an ENT. I saw the ENT not even a month later who did some nerve testing and checked my inner ear. When nothing came up he told me and my dad, "see a Neurologist, if they don't find anything go see another until you find out what's wrong." That's when worry truly sunk in for me. We then got referred by him to a local Neurologist who did several labs, MRI, etc. There were so many tests I was beginning to feel hopeless. Until he decided to send for a genetic test. Next thing I knew I was getting blood drawn at my home and feeling more nervous then I ever have in my whole life. My family and I took our first trip to California a week before the results were meant to be in. Two days after we returned and three days before my 20th birthday we went to my appointment. The Neurologist thought it was probably Ataxia but the worst one to get was Friedreichs Ataxia. There were already so many emotions going on in my household, fear, anger, sadness, and a lot of anxiety. This was the day everything changed, my future flashed before my eyes in a whole different way. This would define what my body would be like down the road. I had already googled Ataxia, I know, a huge mistake. That made it only 10x worse to recieve my diagnosis. July 2nd, 2019, me, dad, my aunt and mamaw went to the Neurologist, I was almost sick twice while waiting to be called back. The Neurologist calls us back and says, "well it does appear to be Friedreichs Ataxia, here's a booklet, you could be in a wheelchair one day and I suggest getting a Cardiologist because the life expectancy could be 40 years old, good luck I know nothing else." Yep, probably thinking what I was, are you KIDDING me? You just gave me this absolute bomb of news, and all you have to say is here's a booklet describing your condition and good luck?! After that I was absolutely devastated and couldn't stop crying for weeks. Family and friends would say things like, it could be worse, it'll be okay, don't worry, don't be sad, don't be angry. That only made it worse. My life was crumbling right before my eyes. I knew everyone meant well but I just wanted to scream! All of my hopes and dreams would never happen, I'll never be independent, I can't be in a wheelchair one day. However, here we are 2 months away from my sixth anniversary with FA, and now my 2nd year celebrating FA Awareness day. About 2 years ago I decided it was time to join the FA community. Since then I started sharing my story on social media, I attended my first advocating experience in Washington, D.C. for Rare Disease Day this past February with my fiance, and have co founded my very own foundation, RiseUpFa Inc. With my dad. Though I have felt like FA is going to destroy me so many times. I got up, got my bachelors degree, started a foundation, and started to chose ME, ALL of ME! Life has definitely not went how I expected. 10 years ago I would've said, "in 10 years I will work in fashion and live in NYC." Today, I walk using a rollator, and do Marketing remote (which I love, but didn't expect this to be my life.) FA has a way of changing someone's whole life around, for better or worse we are stuck with it! So it's better to embrace it then cry about it! Happy FA Awareness Day!