- Posted February 14, 2014 by
north branford, Connecticut
This iReport is part of an assignment:
Living with a rare disease?
an unplanned life
These were the first things that made me think that something was wrong. But when we first approached doctors about what was happening, they were very rude and looked at my mom like she was crazy. They kept saying that she was just making things up or imagining things. “She’s just a clumsy little girl,” they would say. It was very frustrating because no one asked me what I thought about any of this. I was not making this up, there was something wrong! Little did I know, that I would soon be diagnosed with a rare disease that would explain everything but which would also change the entire course of my life.
Although there was a sense of relief that came when I got diagnosed, to know that there was in fact something wrong and we were not just crazy, there was also fear. Friedreich’s Ataxia does not have a cure or any kind of treatment to slow progression of the disease. There was not really a time that I remember where my mom sat me down and explained my entire diagnosis. I was young, so the best way for me to deal with a diagnosis was to ask questions as they came up and deal with obstacles as they arose. It may have not completely sunk in when I was young but once I reached an age of about 13 where I was able to recognize and understand the severity of my diagnosis, I was so angry. Although it took time to work through my feelings, I made a choice to take things in stride and look for positivity. Even though I was able to reach a point of learning to cope with this disease, what was most difficult was dealing with the people around me, and their reactions.
My life obviously was filled with change following diagnosis, but what was the most surprising change of all, were the reactions of my classmates, and the people around me. Not only was I dealing with the horribly frightening thought of losing my ability to walk, I had to deal with the responses of everyone else. My classmates looked at me differently and teachers didn’t understand how badly I wanted to be part of life like other students. Although now I know that they couldn’t exactly control their response, at the time all I wanted to do was grab them and shake them and say, “It’s not happening to you, it’s happening to me!” It’s hard to not feel completely alone.
Alone…I think that is the best descriptive word for what it is like living with a rare disease. I feel like we have to prove ourselves and fight to get anything that resembles normalcy. Throughout my school years it felt like kids were afraid of me, considered me different. I struggled to hold on to anything that would keep me in stay the mainstream with the other kids. My mom did a good job of having things be as normal for me as possible, but even that was a struggle. The school district never understood, or at least they never made an attempt to support me. It was as though they didn’t know what to do with a kid who needed a wheelchair. They instead seemed to push me out of the way. I know my mother was always fighting for me and my sister, who was diagnosed with FA just a few years after I was.
But along with the difficulties I have to say that there are parts of my life that make it all worth it. I have empowered myself by being involved in clinical trials. I saved money years back to purchase a hand trike and started training. Getting this exercise and newfound freedom has been a great tool for me. Every chance I get I ride in races to raise money for the main organization that is dedicated to curing Friedreich’s ataxia. This organization is called The Friedreich’s Ataxia Research Alliance and has been an amazing catalyst for patients, families and researchers.
My mom, sister and I have a very strong bond. We are now all adults, and although living together as adults has its challenges, I see what it means to work hard and accomplish things. I see what a strong family is all about and I know I have grown to be a unique person, not a “different” person.