Jenny Spiller shares her story with us this week. Jenny has a very rare form of Ataxia. We’ll let her tell you more about it.
Growing up I was pretty active, both as a child and also during my teenage years playing sports such as basketball, karate, and BMX Riding, among other things. I guess I was just like most other kids my age. Looking back now, I was probably a little clumsier than most, but it was nothing of concern. It wasn’t until my late teens that we became a little worried that something a little more than clumsiness was going on, as now some others were commenting on my coordination and balance.
I was 19 when I went to my local doctor and discussed my concerns with her. She also thought that maybe something was going on, so she sent me to a neurologist who performed some tests. From there he gathered that something serious could be happening, a month later I was sent for a two-week stay in hospital and underwent a series of tests, such as an MRI, cat scans, lumber-puncture, and many blood tests. After I was released from the hospital there was still no clear conclusion as to what was happening, so they were still running tests for another three months or so. I was diagnosed with Cerebellar Ataxia, at the time there weren’t a lot of tests for other types of Ataxias but the ones that were available I was tested for, but each test came back negative.
In 2014, my neurologist sent to me a geneticist to see if there was any testing available to find out a specific type of Ataxia. After discussing my symptoms and family history with the geneticist, he was pretty certain of what type of Ataxia I had even before any tests were done after some blood work his intuition was right. I had AOA2 (Ataxia Ocularmotor with Apraxia Type 2), even without a genome test he was pretty certain this was the type of Ataxia I had. In 2016, I was in a Genomic trial where the Geneticist prediction of AOA2 was confirmed.
Nowadays, I like to keep fit & active by going to the gym, catching up with friends, going to the movies and also enjoy travelling. I am always happy to discuss what Ataxia is with others who are interested in learning about my condition. I think it is important to spread awareness to make people aware of this very rare disease, I know my condition of AOA2 affects 1 in 900,000 people. My advice to those with Ataxia would be to connect with others who also have Ataxia, as they can help you navigate life with the condition, I would also recommend being true to yourself and not let it define who you are as a person. We only have one life to live, so let’s make it a happy one!
Thanks for sharing your story, Jenny Spiller!
Please consider sharing your story – whether you have Ataxia, are a caregiver, friend, or relative. You may fill out the form below to get started.