Feb. 12, 2019
Posted by Christina Jensen
The following story was submitted by Sarah Stuker in honor of Rare Disease Day. In this story, Sarah shares her family’s journey of searching for and receiving a diagnosis for their daughter, India, of Spinocerebellar Ataxia.
This story is about our little girl, India, who will be two years old in March. Very early on she was developmentally delayed. Over a period of about one year, she was diagnosed with global developmental delay, strabismus, dysarthria, ataxia and hypotonia. Eventually, our daughter’s neurologist wanted to do a genetic test. What we found was what we never expected: a diagnosis of a very special case of Spinocerebellar Ataxia. Usually the onset of this disease is much later in life and it is inherited. Unfortunately, India’s was a very random de novo mutation and onset for her was very early on. It’s scary because not only do we not know a lot about this disease but neither do very many others. Our hearts break not only for India, but for everyone suffering from this awful condition.
Overall the experience of our journey has felt like a blindfolded walk in the dark. We don’t know what we’re doing yet, or where we’re going and there are so many unknowns! While we live in a state with very few resources or expertise on conditions like this, we have been blessed to have attentive physical and occupational therapists, a great pediatrician and an awesome neurologist who are all working together to help her the best they can. Still, in order to get the best treatment possible, we are moving out of state soon to be closer to specialists for her.
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. It was a long road with a lot of testing to get a diagnosis, but we understand how many people wait so much longer than we did. For that, we feel fortunate. At least we know. However, we don’t know what India’s future holds and we don’t know what this awful disease will do. What we do know is that we are hopeful that with the right therapies, encouragement and constant reminders that she is unstoppable, her future will be bright despite this disease. We hope and pray that someday there will be a cure for Spinocerebellar Ataxia, or at the very least an effective treatment.
Rare Disease Day is important to myself and my family because before our journey began, we had no idea how many rare diseases were being ignored and going untreated. We plan on getting involved by spreading the word as much as possible! We want to tell as many people as we can about NORD and Rare Disease Day, and we are hoping to raise awareness so that no one has to go through it alone anymore.