After a typical pregnancy, Megan and Kyle Kempf, new parents, initially had no worries about their daughter Poppy. However, concerns arose when they noticed her drawing skills regressing. At three years old, they observed a subtle sign indicating potential health issues. Despite voicing their concerns to medical professionals, it took five more years to receive a diagnosis.
Now, they face the heartbreaking reality that both Poppy and her younger brother Oliver have a rare, incurable disease that shortens children’s life expectancies. The parents are placing their hopes on a new treatment awaiting medical approval.
Megan, 37, became alarmed when she observed Poppy drawing circles instead of detailed figures at the age of three. Further investigation revealed that Poppy was also experiencing sleep apnea and developing a fear of bedtime. Concerned about her development, the parents sought medical advice, leading to a mild intellectual disability diagnosis at the age of five.
The family’s move to Quincy, Illinois, prompted a visit to a neurologist who recommended genetic testing. Subsequent DNA genome sequencing confirmed that Poppy had Sanfilippo syndrome type B, often referred to as ‘childhood dementia.’ This rare genetic disorder results from an enzyme deficiency, leading to progressive neurodegeneration primarily affecting the brain and spinal cord.
Following Poppy’s diagnosis, Oliver, their infant son, was also tested and received a positive result for the same syndrome. With a life expectancy typically not exceeding 18 years for affected individuals, the parents were devastated. Despite being told there was no cure, they refused to accept the grim prognosis and began exploring alternative options.
One potential treatment involves enzyme replacement therapy, replacing the missing enzymes with lab-produced ones in the body’s cells. While this therapy shows promise, it is still in clinical trials and pending FDA approval in the US.
The family, along with other affected families, has raised funds and remains hopeful that the treatment will be approved by 2027, offering a beacon of hope for their children. They emphasize the urgency of finding a solution for all children affected by rare diseases, aiming for a brighter future.