New parents Megan and Kyle Kempf were initially unconcerned about their daughter Poppy, who was born after a “normal pregnancy.” However, their world was shattered when they noticed her regression in drawing skills at a young age.
At just three years old, subtle signs led the couple to seek medical advice for Poppy’s health concerns, which were not promptly diagnosed until she turned eight. The devastating revelation was that both Poppy and her younger brother Oliver were living with a rare and incurable disease, Sanfilippo syndrome type B, dramatically impacting their life expectancies.
The parents, determined to find hope for their children, are placing their faith in a new treatment pending medical approval. Megan recalls the moment she noticed Poppy struggling with her drawings, a pivotal moment that sparked their journey to uncover the underlying issues affecting their daughter’s development.
As Poppy’s developmental delays became more apparent upon starting school, a diagnosis of mild intellectual disability at age five was just the beginning of their challenging journey. Eventually, genetic testing confirmed the presence of Sanfilippo syndrome type B, a neurodegenerative disorder with severe implications for the children’s cognitive and physical abilities.
The family’s resilience was further tested when Oliver, their baby son, also tested positive for the genetic disease. Despite the grim prognosis that most individuals with the syndrome do not survive past 18 years, Megan and Kyle refused to accept defeat and sought out alternative treatment options.
Enzyme replacement therapy emerged as a potential solution, offering a glimmer of hope for Poppy and Oliver. However, the treatment is still in clinical trials and awaits FDA approval in the US. The family, along with other affected families, are actively raising funds and advocating for the drug’s approval, aiming for accessibility by 2027.
The road ahead is uncertain, but Megan remains optimistic, emphasizing the need for answers and solutions for all children affected by rare diseases. The family’s resilience and determination to fight for their children’s well-being serve as a beacon of hope amidst the challenges they face.
To support their cause, donations can be made at give.curesanfilippofoundation.org/campaign/732486/donate.