Rare Disease Day (28 February 2026): Joanne’s Story of Finding Light After Years of Uncertainty

Joanne is a bright, lively child whose presence brings warmth and joy to her home. Born in December 2019, she is the youngest of three siblings and is deeply cherished by her parents and sisters. Her early years began much like any other child’s, but when Joanne turned two, her family’s journey took an unexpected and challenging turn—one marked by uncertainty, resilience, and an unwavering determination to keep going. 

Joanne lives with hyperinsulinemic hypoglycemia (HH), a rare and life-threatening condition that causes her body to produce excessive insulin even when her blood sugar levels are already dangerously low. For a young child, this can be especially devastating. The brain relies heavily on glucose for energy, and repeated episodes of low blood sugar can lead to seizures, developmental injury, and in severe cases, coma or death. 

What makes Joanne’s journey particularly challenging is that her condition went undiagnosed for several years. In 2021, at just two years old, Joanne experienced her first seizure. As the seizures became more frequent and intense, she was treated for epilepsy, undergoing numerous tests and genetic investigations. Despite these efforts, the underlying cause remained hidden. Different anti-epileptic medications were introduced in hopes of controlling her seizures, but the episodes continued. 

Over time, the repeated seizures took a heavy toll. Joanne gradually lost milestones she had once achieved—she stopped walking, stopped talking, and grew increasingly weak. She was later diagnosed with Global Developmental Delay, and by the end of 2023, she was largely bedridden and minimally responsive. For her parents, watching their once-active child fade was an indescribably painful experience. 

Joanne with her family

Then, in September 2023, an unexpected discovery changed everything. During a hospital admission for extended monitoring, a test revealed that Joanne’s blood glucose levels were critically low. She was immediately placed on intravenous glucose, and for the first time in years, the seizures stopped completely. Nights once filled with fear became calm and quiet. 

Today, Joanne has been weaned off all anti-epileptic medication. While the exact cause of her HH remains unknown, her condition is now carefully managed through medication and diet. The damage from those undiagnosed years cannot be fully reversed, but the seizures no longer define her life. 

Progress now comes in small but powerful moments—smiles, laughter, and renewed connection. Joanne has begun regaining abilities her family once feared were lost forever. She can walk with support, feed herself with a spoon, imitate words and actions, and express her emotions freely. These milestones, so ordinary to many, are extraordinary victories for Joanne and her family. 

In 2024, Joanne joined Club Rainbow (Singapore) after being introduced by her pediatrician. Since then, the organisation’s programmes have supported her development in meaningful ways. Through the Joyful Learning Programme, Joanne was able to explore reading and learning in a nurturing environment despite being unable to attend preschool. She also benefited from subsidised home-based physiotherapy, which supported her rehabilitation journey, as well as home-based art therapy, where she could explore creativity and self-expression. 

Today, Joanne enjoys playing with jigsaw puzzles, swimming, visiting playgrounds, and is even beginning to explore singing. Her dreams are simple yet profound—to walk, run, jump, and dance again, and to continue discovering the world around her with growing independence and confidence. 

By sharing Joanne’s journey this Rare Disease Day, her family hopes to raise greater awareness about rare conditions like hyperinsulinemic hypoglycemia, and the life-changing impact of early diagnosis and timely intervention. 

Joanne’s story is a reminder that while rare diseases may be invisible to many, the children living with them are full of strength, courage, and hope. And sometimes, progress is not measured in leaps—but in the quiet, precious moments that remind us how far a child has come. 

Rare Disease Day is observed every year on 28 February (or 29 February in leap years—the rarest day of the year). It was established and is coordinated by EURORDIS in partnership with over 70 national alliance patient organisations. The day serves as a powerful focal point, driving advocacy efforts at local, national, and international levels. Rare Disease Day is a globally coordinated movement dedicated to rare diseases, striving for equity in social opportunities, healthcare, and access to diagnosis and therapies for people living with a rare disease. Since its creation in 2008, Rare Disease Day has played a crucial role in building an international rare disease community—multi-disease, global, and diverse, yet united in purpose. 

About Club Rainbow (Singapore) 

Established in 1992, Club Rainbow (Singapore) is a non-profit organisation and registered charity with the mission to support and empower children with chronic illnesses, many of whom are with special needs and disabilities, and their families to lead a dignified life and become active contributors to society. 

Website: https://www.clubrainbow.org/  

Contact number: 6377 1789 

Email: contact@clubrainbow.org 

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