Family's 100km walk for daughter's rare condition

A five-year-old girl in the UK, Rosie, is facing a daily battle with Batten Disease, a rare and fatal genetic condition. She has experienced over 10,000 seizures and is increasingly suffering from dementia and paralysis. Her parents, Max Bridge and Emma Vukic, are navigating the difficult reality of her declining health, marked by significant loss of language and mobility.

Rosie's condition makes even simple milestones, like starting school, an immense challenge. Staff require specialized assistance to move her, highlighting the severity of her disability. Her parents express the profound emotional toll of witnessing her regression and the constant hospital visits.

Despite the bleak prognosis, a potential trial at Great Ormond Street Hospital offers a glimmer of hope. Acceptance into this trial could preserve Rosie's eyesight, a crucial aspect for maintaining visual communication as her verbal abilities diminish. She is among fewer than 50 children in the UK with CLN2, a specific type of Batten Disease.

Rosie receives a life-prolonging treatment called Brineura every two weeks, an infusion into the fluid surrounding her brain that helps delay symptoms. This treatment is vital, especially as NICE previously indicated that newly diagnosed children would not receive it. To support families affected by this disease, Max and Emma, along with over a dozen friends, are undertaking a 100km endurance walk to raise funds for the Batten Disease Family Association.