Brooks
About Me
Brooks is a bright energetic young child who enjoys baseball, school, and spending time with friends and family. At home, he loves coloring with his older sister, who is 5½ years old and is one of Brooks’ biggest supporters, even if she doesn’t fully understand his condition yet. He attends school and remains closely connected to his peers. While he receives regular physical therapy and other supportive care, he still does not fully recognize that his life is different from other children his age, which reflects both his resilience and the protective normalcy his family has worked to maintain.
Diagnostic Journey
Brooks was diagnosed with ARSACS in July 2024 at just about 2 years old, making him one of the youngest known cases. His early development showed signs of hypotonia and motor delay. At around 12 months, his mother, a pediatric nurse, noticed he was not close to walking and raised concerns with his pediatrician. These concerns were initially dismissed, and early testing for muscular dystrophy came back normal. Despite ongoing physical therapy starting around 14 months and persistent parental advocacy, it took multiple evaluations and a neurology push before further genetic testing was pursued. After about six weeks of uncertainty following a hypotonia panel and cheek swab, Brooks was officially diagnosed with ARSACS. During this period, he was misdiagnosed with mild, low muscle tone, and his symptoms were attributed to general motor delay, highlighting how difficult early detection can be for ARSACS patients.
Message to the Community
Brooks’ diagnosis was something his family had never heard of before, which led his mother to spend hours researching ARSACS. Through determination and connections, they were able to quickly reach specialists like Dr. Schmahmann in Boston. His care now includes a combination of traditional and functional approaches, including physical therapy, neurological vitamin supplementation, and other supportive interventions aimed at protecting brain health and maintaining function. Some treatments, like red-light therapy and carefully managed supplements, are part of an ongoing effort to be proactive rather than passive. His family emphasizes the balance of both physical and emotional aspects, recognizing that while Brooks may appear steady to others, subtle symptoms and setbacks, especially with sickness like the common cold, are more apparent to those closest to him. They are taking an active approach to fighting ARSACS by doing everything they can to help their son.
Message to Those Unfamiliar with ARSACS
One of the biggest challenges is that it ARSACS is a rare and variable disease, and many people, including medical professionals, may not immediately recognize it. Brooks’ mother hopes to dispel misconceptions and emphasize that early intervention can make a meaningful difference in slowing progression and improving quality of life. Because ARSACS does not follow a predictable path, its future uncertainty creates a lot of emotional weight for those affected by diagnosis.