When I was a little girl I had no inkling that I was "different" from any of the other kids.. at the time. But looking back on my childhood, it was more than just the clumsiness that we all thought it was. I just couldn't run as fast as the other kids and I hated playing sports and gym. I could climb the tires on the playground really well although I was slower to get to the top. I had more of a fear of heights because I wasn't totally sure of myself and my Tipsy gait. I didn't understand why nobody else was like that too.When I was about 11, when in a bathing suit, my father noticed that I had a crooked spine. Sure enough, soon my doctor determined that I did have Scoliosis. But, my doctor had noticed that my symptoms were much more than symptoms of Scoliosis. My doctor sent me to Massachusetts General Hospital in Boston to be assigned to several new doctors for further investigation into my "problem". I had to go through tons of testing of all different types, including MRIs, Cat Scans, Muscle biopsies, skin tests, several blood and sugar testing and etc.. They were all normal.
I had another test called an Echocardio Gram and this showed that the wall of my heart was abnormally thick. This is a symptom of many things. So I endured even more testing. Everyone had told me that I was a "mystery". Some type of Ataxia they assumed. Since Ataxia is a very broad term meaning unsteady gait and poor fine motor skills. There are a lot of types of Ataxias out there. The figured mine was Genetic. I don't know how they knew that.
Not soon enough the doctors' that I was given were now narrowed down. I can only remember the most important one. She was a NueroGeneticist (I still see her every once in a while and since they had ruled out a muscular problem because the muscle biopsy was completely normal, she was a very important person to me in putting the pieces together.
I had an extremely painful test done in order to figure out how my nerves were responding. The has put needles in certain points in my body and then they turned on the electrical shocks. I think this test is so inhumane, but it did figure a lot of things out for me. It had made the definite determination that It was definitely a Neurological problem and nothing else. By this time I was about 13. They further investigated as my Orthepidic (crew) monitored my Scoliosis and decided that the best thing to was to stabilize my spine at the time when my bones were maturing the most was to have me where a plastic back brace for the time being. I hated every minute wearing that thing. Yeah it was under my clothes but I still new it was there, and I was in the prime of puberty ahhhhhhh! It seemed like I had to wear it forever at the time but soon enough my spine was stabilized and I didn't have to anymore.
I was about 13-14 when the diagnosis of Friedreich's Ataxia came and I really think the diagnoses came from that electrical shock test and the effect it had on my nerves. I wasn't told much about it, except that it WILL get worse and this is what I will most likely die of. I was severely depressed when I heard these things OVER AND OVER from doctors. Even from doctors who haven't even heard of Friedreich's Ataxia, which is most if not all of the doctors I have seen in my home state of New Hampshire. The doctors' here just thought they new what they were talking about after reading a couple summeries written about FA.
I was depressed about this even early on but I kept a lot of my feelings to myself because the disease didn't show much severity yet. It caused me to have a drunk like walk and other kids, didn't have it. I hated it! Still do! You know how cruel kids that age can be. School was very emotional for me. I remember having to walk home from school. That was the time when I got picked on the most because it was more apparent then that I had "problems". Being "different from all your peers at this age was very very hard to deal with. To top off being 14, I was even more insecure about myself And the other kids knew it too because not only did my peers know I was "different" but I did too. The kids thought it was funny to pick on me.. Mimic my walk and etc.. to make the whole class laugh. I cried a lot in class, so that gave me the stigma of the quiet, sensitive, weird girl.
Everything changed in high school. Like my attitude towards these people that had nothing better to do that to make fun of something they new little about. I was in a bigger environment with a wider rang of kids, there were more "different" people there, (although most had mental disabilities.) I used to make sure that people knew that this disability I had didn't effect me mentally, so I was a smart ass. My peers and I were maturing. I slowly began to realize that the friends that I want would treat me like anybody else. I had a pretty normal adolescence besides all the depression and uncertainties that I faced. I was a trouble maker (average teen) regardless.. High School was hard emotionally too. There are just some kids that just don't grow up. I had a lot of friends but even more enemies. I didn't like anyone at all who noticed that I had a "different" walk and manore about me. Except the curious few that actually came to me and asked about it.
I had a my child when I was 20. I raised her pretty much all on my own for the first 3 years of her life and still now. I noticed that before my pregnancy my disability progressed very slowly. But after and during pregnancy, my FA had become more apparent. I am 23 now and I have finally this past September broken down, I have gotten an electric wheelchair. I don't drive a car (almost never have). I still use the assistance of people while walking. Using this wheelchair is a big relief for me in so many ways. Before I had it (when it was on order) I said to everyone including myself that I am not going use it. But the first time I sat in it I found how easy it made things for me. Everything seemed new to me. I could take my child on "walks", I could go hear, I could go there, I didn't have to grunt about EVEN getting up and going to the fridge. I could serve my guests and not have to be served so I wouldn't spill anything. Before I had this chair I would go without so many things, (like meals) simply because I avoided walking into the next room again and again. I did what I had to do for my child but to do the same things over again for me seemed like EXTRA (and unrequired) Now I don't have to do that anymore. When I was walking (sometimes even crawling) I have fallen so many times in so many dangerous positions that one couldn't begin to imagine. I merely do not have to do it anymore. Im done trying to be "normal". I'm not giving up on myself in any way. I am simply maintaining and preserving myself. I am a happier and more independent person now too. I'm trying to do all I can do to stay strong in life, even though I am growing weaker and weaker physically because I'm not forcing myself anymore to be ambulatory. I'd say that I am wheelchair bound 75% of the time at this point in my life. I live in an upstairs/downstairs apt and I keep (and use) a manual chair upstairs. The love I have for my daughter is really what drives me in life. Also hope is a big big one for me.. I'm convinced that there will be a miraculous new treatment.. if not a cure! SOMEDAY! But in the meantime I WILL LIVE HAPPILY!