Living with Ataxia: A Family’s Story

2016-0821 Living with Ataxia --A Familys Story

Our four year old daughter Eva has an extremely rare neurological condition which affects her balance and coordination and her development. On a good day she is full of life, laughter and has a steely determination. On a bad day she is very wobbly, her tremor is very pronounced, she finds the simplest of tasks very challenging and she tires easily. 

When Eva was born she was a smiley, well-tempered baby who was very sociable and loved being around people.  At around nine months we noticed that sometimes she would shake a little but just put it down to her being a bit over excited. Eva was a late crawler but went on to become very proficient. It wasn’t until she was a late walker, the tremor was more pronounced and there was an ever increasing feeling that something just wasn’t quite right that we started to investigate.

In October 2015 we were told that Eva had a genetic variation and it is this that is believed to be the cause of her challenges. This particular variation has never been seen before and as a result we have no point of comparison or a prognosis for how Eva will develop. For our family the unknown is incredibly hard to deal with and every day our hearts break just a little bit more from the lack of understanding we have of Eva’s condition, what the future might hold and how difficult life can be for her.

Eva loves life and faces her challenges head on. Even though her gross and fine motor skills are nearly two years behind her peers she doesn’t let anything get in her way and enjoys riding, trampolining, ballet and swimming just like any other four-year-old. She can’t run, walk for great distances or go up and down stairs independently but she tries every day to master these skills. We can only hope that Professor Nemeth and her team will be able to continue their life changing work to fully understand what is going on for Eva and all the other children who have genetic variation. We hope that a better understanding will lead to answers as to how we can best support these children to continue to live happy and fulfilled lives and that one day there will be a cure for children like Eva so no other children and their families have to face the challenges we do.

You can read more about Professor Nemeth’s study into neurological conditions like Eva’s, click here.

Credits

Thanks to the family for sharing their story; Action Medical Center for committing its resources to the story; Google for helping me find the story; and all the people who, directly or indirectly, made it possible to include the picture, text, and links in this post.

6 Comments

  1. i loved your story about your daughter. My son tyler is nine and was told a year and a half ago that he has AT Atexia Telegenicous (spelling on that??) he was misdiagnosed with CP at the age of four after a horriabke battle with a very rare type of cancer in the back of his neck. took 3 months to get a answer. a pathologist at John Hopkins found out what it was. we at the time where at CHOP in PA. we caught it just in time before it went into the glands which ment no treatment was needed. thank god
    as the year went on we nocticed his walking got worse along with every motor skill. so after years of watching my son go down hill with no anwers why i found Dr.Scavina at DuPont Hospital in Delaware after a lot of bloood work it finally showed he had a rare no cure disease called ,AT. life span not long at all. my world feel apart. still is. if you get the. lchan e read up on it or visit my instagram page lucywells7103. make a wish just gave him a cruise ship vacation on the dream disney ship. it was great. hope and strength to all of you
    lucy wells

    1. Lucy,

      One thing to remember about incurable and non-treatable adversity is that the “wisdom” today may change tomorrow. I know a few people with AT and they are good, happy, helpful, and motivated people. It is certainly possible to enjoy life even when reacting to life is challenging. ~ Scott

  2. I’m so sorry to hear about Eva. Every time I start feeling sorry for myself, I see a story like Eva’s. I was 68 when I started getting symptoms of ataxia. I’m now 72 and they still don’t know what caused mine. It is not inherited, so they know very little about it. At least I had a great life until my children and grandchildren were almost grown. I will pray for little Eva, my first name is Evalyn, and I have a grandson Evan. Good luck and God bless!

    1. Even though you had the benefit of many fantastic, ataxia-free years, I hope that you can appreciate the later years of life as well. There is much that we can do, even if it not exactly what we used to do. Thank you for sharing your comments.

      1. I was diagnosed with Ataxia in 2010 when I was 54, now I’m 62. My heart really goes out to kids like Eva who get this at such a young age.

      2. Brian, if you would like to share a story about your challenges and tips, I would be happy to post it. Thanks for sharing your comment.

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