A couple, Megan and Kyle Kempf, initially had no worries about their daughter Poppy’s health after what seemed like a normal pregnancy. However, their concerns heightened when they noticed a decline in Poppy’s drawing abilities. At the age of three, Poppy’s parents observed signs indicating a potential health issue. Despite seeking medical advice, it took five years for a diagnosis to confirm their fears.
The family now faces the harsh reality that both Poppy and her younger brother Oliver have a rare, incurable disease that significantly reduces their life expectancies. Nevertheless, Megan and Kyle remain optimistic about a new treatment awaiting medical approval.
Megan, 37, became alarmed when Poppy, then three years old, stopped drawing detailed pictures and began simplifying them to just circles. Further investigations revealed that Poppy also suffered from sleep apnea and developed a fear of bedtime. Concerned about her development, Megan expressed worries about the impact of sleep apnea on her daughter’s delays.
Upon starting school, Poppy’s developmental delays became more noticeable compared to her peers. At the age of five, she received a diagnosis of mild intellectual disability. The family’s relocation to Quincy, Illinois, from Tulsa, Oklahoma, was prompted by growing concerns about Poppy’s condition.
After consulting a neurologist, Poppy underwent genetic testing, which confirmed a diagnosis of Sanfilippo syndrome type B, commonly 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.
Given the genetic nature of the disease, Oliver, the couple’s newborn son, was also tested and diagnosed with the same condition. The devastating news included a life expectancy prognosis that most children with Sanfilippo syndrome type B do not survive past 18 years.
Despite being told there is no cure for the disease, Megan and Kyle refused to accept the situation. They explored alternative treatments and discovered an enzyme replacement therapy under development. This therapy aims to replace the missing enzymes in Sanfilippo syndrome patients with lab-produced enzymes within the body’s cells.
While the Cure Sanfilippo Foundation supports this promising treatment, it is still in clinical trials and awaits approval from the Food and Drug Administration (FDA) in the US. Megan and other affected families have raised substantial funds in anticipation of the drug’s approval by 2027, aiming to improve their children’s access to the treatment.
The parents remain determined to find a solution for their children, emphasizing the urgency of addressing rare diseases affecting pediatric patients. Their campaign seeks support to advance research efforts and ultimately provide hope for all children facing similar challenges.
