Amy
About Me
Amy is 55 years old. She graduated from college with a bachelor’s degree in early childhood education. Unfortunately, Amy encountered some disability discrimination when she applied for teaching jobs, so she ended up working in the field of human services. Amy also worked as a program assistant at an Independent Living Center for 20 years. She is currently retired and enjoys watching TV and movies, shopping, reading, and going to the theater in her free time.
Diagnostic Journey
Like so many other ARSACS patients, Amy was misdiagnosed with Cerebral Palsy when she was a toddler. As she got older, her disability continued to progress, and she suffered ability losses in a number of areas. She eventually transitioned from walking independently to using crutches, and then for safety reasons she started using a manual wheelchair. Amy bought a van equipped with a ramp and ultimately started using a motorized wheelchair.
In 2018, her rehabilitation doctor suggested that she should see a neurologist because her disability simply did not present like Cerebral Palsy. She underwent an MRI of her brain, and a neurologist ordered genetic testing. The genetic testing showed that she had ARSACS. Amy traveled to Boston to see world-renowned ARSACS expert, Dr. Jeremy Schmamann, and his team agreed with the diagnosis. Finding out that she was misdiagnosed and had a progressive disease was hard.
Message to the Community
Growing up with a disability for Amy was, at times, difficult and lonely. Despite having loving and caring parents, the journey was challenging. Amy felt that she spent a lot of time simply trying to fit in with people her age and be "normal," instead of accepting herself as she was and living life her way. After Amy graduated from college, she learned to drive using hand controls, took therapeutic horseback riding lessons, and got a job working with and for other people with disabilities. Accepting that she was disabled and learning to like herself started her down a happier path of life. Amy’s message is that although life can be hard, try to focus on the things that you can do and enjoy your time doing those things!
Message To Those Unfamiliar With ARSACS
It is a rare neurological disorder affecting muscles, and it progresses slowly over time. She wants people to understand that having ARSACS can be both scary and depressing, and she sometimes worries about what the future may hold. Amy hopes that people understand the uncertainties that come with living with an ultra-rare disease.
Hopes for the Future of ARSACS
Amy hopes that there will be more doctors and medical staff who become familiar with and have knowledge about ARSACS. She also hopes that scientists will discover a way to repair the genes of both biological parents that cause ARSACS or, perhaps, find a cure to halt the mutations of the SACS gene in children. Finally, she wishes for more support to enable people with ARSACS to grow old gracefully without worrying about care provider options.