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.
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.