A once vibrant child, Emma Austin's mysterious symptoms unraveled into a diagnosis of a rare dementia, pushing her family into urgent medical fundraising, Daily Mail reported.
Emma Austin, a lively and healthy child known for her bubbliness, started showing concerning signs at two-and-a-half years old. Her difficulties with simple tasks such as putting on shoes and using cutlery were initially dismissed by doctors. Emma's parents, though, sensed something deeper was troubling their daughter.
Six months after those first troubling symptoms, a normal car ride to preschool turned critical when Emma suffered a seizure. This alarming event led to a swift hospitalization and a series of genetic tests. The results would challenge the Austin family like never before: Emma was diagnosed with CLN2 Batten Disease in April 2021, shortly after her third birthday.
Batten Disease is a rare, fatal disorder caused by a deficiency in the TPP1 gene, necessary for brain and spinal cord waste clearance. Symptoms of this disease include progressive neurological impairment, and losing abilities to speak, walk, see, and swallow. Each symptom is a more painful reminder of what the condition steals from its sufferers.
In the wake of the diagnosis, Emma's mother, Kirstie Austin, decided to stop working and dedicate her time to the care of her daughter. Emma began receiving bi-weekly infusions of Brineura, an engineered enzyme treatment. Although costly, this treatment has helped stabilize some of Emma’s deteriorating functions.
Nevertheless, the treatment isn't a cure, and Emma's condition continues to have significant social and emotional impacts. She is keenly aware of her differences when playing with other children. Her father, Eric, expressed his heartbreak watching his daughter struggle to understand why she can no longer engage with others as she once did.
To aid with the steep costs of treatment and necessary home adaptations, the Austin family initiated a GoFundMe campaign, successfully raising over $20,000 towards their $50,000 goal. This fund supports not only medical infusions but other exploratory treatments that are in financial jeopardy yet hold a promise of better outcomes.
Research into further potential cures, like in Brazil, faces hurdles such as insufficient profitability halting necessary studies. However, the Austins, with the support of the Batten Disease Research and Support Association (BDRSA), remain hopeful that these avenues may one day reopen.
The emotional rollercoaster for the Austin family is a daily reality. Kirstie and Eric Austin remember their daughter's early days with fondness and fight daily to provide her with the best life possible despite her condition. "Emma was a healthy, energetic child. We never saw this coming," Kirstie shared, reflecting on the shock and the rapid progression of the disease.
In just a few years, their vibrant child who once ran around with ease now faces monumental challenges with simple movements and social interactions. "It's progressively getting worse... and it's really hard to watch," Eric Austin comments, revealing the painful journey they face as they watch their daughter try to understand her evolving limitations.
The community's support has been a critical lifeline for the Austins as they continue to navigate this devastating diagnosis. Their ongoing fight to maintain Emma's quality of life and explore every possible treatment highlights both the profound challenges and the deep wells of hope that define living with a rare disease.
