Today is Rare Disease Day, and we’re grateful to CBS News for including SCA in its story on the subject. It’s bad enough that anybody has Ataxia, but when a 2 year-old is diagnosed with the condition it’s almost too much to bear.
It took about a year of testing before the parents of a toddler named India found out what was causing her problems. India, who will be 2 in March, was developmentally delayed very early on. She was finally diagnosed with an unusual case of Spinocerebellar Ataxia, a disorder characterized by degenerative changes in the part of the brain related to movement control. The disease usually appears later in life but a genetic mutation caused India to develop symptoms much younger.
“Overall the experience of our journey has felt like a blindfolded walk in the dark,” her mother Sarah Stuker wrote in a blog on NORD’s website. “We have great days and then we have days where it’s difficult not to cry each time she falls down or hurts herself for no reason at all. It just doesn’t seem fair that someone as sweet and little as her has to deal with this.”
Ataxia Research Fund 