Steven and Cole
About Steven and Cole
This wonderful family is currently navigating the daily realities of ARSACS with two active boys: Steven, who is in the seventh grade, and Cole, who is in the fourth grade. Both brothers have participated in karate to help keep their neural pathways active and manage the disease's progression, a commitment that has been incredibly rewarding and earned Cole a green belt and Steven a blue belt, though this is just one of many activities the boys have been involved in. They work hard to balance their medical management with an active lifestyle, but at the end of the day, they are also kids who love relaxing at home, watching YouTube videos, and playing video games. Steven captures their easygoing attitude perfectly, sharing, “I want everyone to know that I’m funny, laid-back, and I just go with the flow.”
Diagnostic Journey
The journey toward a diagnosis began when their mother, Lori, noticed that Steven was not yet walking. Although doctors initially offered reassurance, Lori’s background in teaching led her to seek an independent evaluation, which eventually resulted in the use of leg braces. Early MRIs appeared mostly normal, and subsequent blood work initially suggested a different disorder. However, after attending a medical symposium and navigating various professional opinions, the family finally received a formal diagnosis of ARSACS. Cole was tested shortly after turning one, and despite having absolutely no known family history of the condition, both boys were confirmed to have it.
Message to the Community
For other families walking this path, the family emphasizes the critical importance of connection and shared knowledge. In the early days following the boys' diagnoses, their biggest hurdle was the fear of the unknown and worrying about what the coming years would look like. Finding a dedicated Facebook community of others with ARSACS provided much-needed support and a true sense of belonging. They strongly encourage others to lean on these online or local groups to exchange experiences and find comfort in knowing they aren't navigating these challenges alone. Steven's personal advice to the community is simple but powerful: “Be like me and believe you can do it.”
Message to Those Unfamiliar with ARSACS
It is important for the general public to understand that ARSACS is a rare genetic condition that heavily impacts motor control and physical coordination. This can manifest in subtle ways, such as a unique pencil grip, as well as more noticeable physical hurdles that affected individuals face every single day. Lori wants people to realize that despite these physical differences, the boys are still typical children who simply have to work a bit harder to accomplish certain tasks. She explains, “What comes easy to you won't come easy to them, but they are just like any other person.”
Hopes for the Future of ARSACS
The family is deeply invested in the advancement of medical research and specialized care. They have already traveled to see specialists and actively joined a patient database to remain eligible for upcoming clinical trials. Their ultimate hope is that continued research will lead to better management strategies and, eventually, targeted treatments that can slow or completely stop the progression of the disease. They remain optimistic that participating in research will help shape a clearer, brighter future. As Lori notes, “The more brains on a project, the better. I want people to realize these boys can be advocates for their own voices and experiences.”