Daisy
About Me
Daisy is 7 years old and is one of the brightest, funniest, and most loving little girls you could ever meet. She has a huge imagination and is a gentle, creative soul. She loves coloring, stickers, crafts, and anything that lets her create something beautiful. Daisy enjoys routines, quiet adventures, and spending time with her sister Poppy and her dog Winnie, who is never far from her side. Daisy has a wonderful sense of humor and a smile that lights up a room. Daisy loves animals, swimming when the water feels calm, and watching her favorite shows. She is happiest when she feels safe, supported, and understood. Even though she faces challenges that other children her age don’t, Daisy approaches life with determination, resilience, and a softness that inspires everyone around her.
Diagnostic Journey
Daisy’s diagnostic journey began when she reached 18 months and still wasn’t walking, her family knew she was developing differently. She was referred for physiotherapy and diagnosed with hypermobility. As she grew, she was still struggling with balance, coordination, and motor skills, and tasks that should have become easier with time stayed difficult. She developed a narrow‑based gait, fatigued quickly even over short distances, and found tasks like climbing steps or walking along a line extremely challenging. Daisy also had sensory needs and visual processing difficulties; things that made busy environments overwhelming and certain activities harder to navigate.
When she reached 5, her family pushed for her to be seen by a pediatric consultant. As soon as the consultant saw how Daisy walked, she knew it wasn't just hypermobility. Daisy was then referred to Great Ormond St Hospital where they carried out several tests. Daisy underwent muscle strength testing, tone and reflex assessments, gait analysis, and coordination tests. One of the most significant steps was an MRI, electrical muscle and nerve testing — an EMG (electromyography) and NCS (nerve conduction study). These tests measured how her nerves communicated with her muscles and how her muscles responded. They helped rule out certain neuromuscular conditions and pointed doctors toward a neurological cause for her difficulties.
Eventually, Daisy was referred for genetic testing. After months of waiting, the family received the diagnosis: ARSACS. It was overwhelming and frightening for them, but they finally had a name for what Daisy had been experiencing since she was tiny. With this new diagnosis, they were able to understand why she had so many struggles. The diagnosis didn’t change who Daisy was — but it changed how her loved ones could help her.
Message to the ARSACS Community
Even though ARSACS can make things harder, Daisy shows the world every day that joy and determination are stronger. ARSACS can feel isolating because it’s so rare but knowing there are other families walking this path brings comfort and connection. The family hopes that Daisy’s story helps others feel less alone. They celebrate every small victory, every new skill, every moment of joy. Finally, they find that the ARSACS community is full of resilience, love, and hope.
Message to Those Unfamiliar with ARSACS
ARSACS is a rare genetic neurological condition that affects balance, coordination, muscle tone, and nerve function. For Daisy, it means her body doesn’t always do what she wants it to. She works harder than most children her age to walk, climb, balance, and complete everyday tasks. She experiences fatigue, sensory challenges, and visual processing difficulties that make certain environments overwhelming. It also means she needs extra time, support, and understanding. She is bright, funny, and capable; she just experiences the world differently. ARSACS is part of her story, but it is not the whole story.
Hopes for the Future of ARSACS
Daisy’s family’s hope for the future of ARSACS is simple: awareness, research, and support. They want more professionals to recognize ARSACS early so families don’t spend years searching for answers. They hope for improved therapies, better access to equipment, and continued research into the SACS gene and Sacsin protein, which play a key role in how the condition develops. The family dreams of a world where children like Daisy feel fully included, where their differences are understood, their needs are met without long battles, and their strengths are celebrated. They hope for advancements that improve mobility, independence, and quality of life. Above all, Daisy’s family hopes that she grows up knowing she is supported, valued, and never alone.