Rachael
About Me
Rachael is a devoted mummy to her 4-year-old daughter, Lylah. She works professionally as a personal assistant for a young man with a learning disability. She enjoys spending quality time with her family, going to live shows, playing bingo, and socialising at her local pub. She also loves to try new things, and she has gone paragliding, gone skydiving, done obstacle courses, gone microlight flying, and flown in a glider. In addition to her personal and professional life, she, along with her sister, leads the UK ARSACS Support Group in partnership with Ataxia UK.
Diagnostic Journey
Rachael has had symptoms of ARSACS since she was a young child, with the disease primarily affecting her balance, walking, and coordination. She received extensive testing throughout childhood, with many theorized diagnoses, though ultimately she did not receive a final diagnosis. By her teenage years, she felt exhausted by the constant hospital visits and opted to stay away from the hospital for a number of years. In her late 20s, she pursued orthopaedic surgery and connected with a specialist surgeon at the Royal National Orthopaedic Hospital. This surgeon suggested that she contact a neurologist, and finally received a diagnosis of ARSACS at age 30 from the National Hospital of Neurology and Neurosurgery.
Message to the Community
Rachael’s primary message to others living with ARSACS is one of determination and resilience. In her words, “if you put your mind to it, anything is possible.”
Message to Those Unfamiliar with ARSACS
Rachael has a message directly for medical professionals: she emphasizes that providers who have never come across ARSACS should be honest and say that they don’t know rather than make guesses in patient care. It is important to make informed, thoroughly researched decisions in patient care.
Hopes for the Future of ARSACS
Rachael is highly optimistic about the future of the ARSACS community. She highlights the fact that people with ARSACS from across the world are coming together to build a strong community to support each other, and research is being done to find new treatments.