After a seemingly normal pregnancy, new parents Megan and Kyle Kempf initially had no concerns about their daughter Poppy. However, their world was shaken when they noticed her regressing in her drawing abilities. At just three years old, they observed subtle signs hinting at potential underlying health issues. Despite expressing their worries to medical professionals, it took five more years for a definitive diagnosis to be made.
Now faced with the heartbreaking reality that both Poppy and her younger brother Oliver have a rare, incurable disease, Megan and Kyle are holding onto hope for a new treatment awaiting medical approval. The turning point came when Megan, 37, noticed Poppy’s regression in drawing from detailed figures to simple circles at the age of three, along with other concerns like sleep apnea and bedtime fears.
As Poppy entered school, her developmental delays became more noticeable, leading to a diagnosis of mild intellectual disability at the age of five. A move to Quincy, Illinois, and consultations with specialists eventually led to the discovery that Poppy had Sanfilippo syndrome type B, a rare genetic disorder known as childhood dementia. This disorder affects the brain and spinal cord, causing progressive neurodegeneration and shortening the lifespan to late teens or twenties.
Upon learning of Poppy’s diagnosis, Megan and Kyle had their infant son Oliver tested, only to receive the devastating news that he also tested positive for the same condition. With no cure available, the parents refused to accept the grim prognosis given to them by medical professionals and started exploring alternative treatment options.
Enzyme replacement therapy, a potential treatment for Sanfilippo syndrome, involves replacing the missing enzymes in the body with lab-produced ones. While this therapy shows promise, it is still in clinical trials and awaits FDA approval. Megan and other affected families have been actively fundraising in the hopes of making the treatment accessible to their children by 2027.
The road ahead remains challenging, as rare diseases like Sanfilippo syndrome face obstacles in reaching the market, especially when they primarily affect children with limited life expectancies. Despite the uncertainties, Megan and Kyle remain hopeful that a solution will be found for all children battling this devastating condition.
