After a seemingly typical pregnancy, new parents Megan and Kyle Kempf were initially unconcerned about their daughter Poppy’s development. However, their world was shaken when they noticed her drawing skills regressing.
At three years old, subtle signs raised alarms for the couple regarding Poppy’s health. Despite raising concerns to medical professionals, it took five more years for a diagnosis to be made.
Now, Megan and Kyle face the heartbreaking truth that both Poppy and her younger brother Oliver have a rare, incurable disease that significantly shortens their life expectancies. Despite this, the determined parents are placing their hopes on a new treatment awaiting medical approval.
The turning point came when Megan, 37, observed Poppy drawing only circles instead of detailed figures at three years old. This regression, coupled with sleep apnea and bedtime fears, prompted further investigation into Poppy’s development.
As Poppy entered school, her developmental delays became more noticeable, leading to a diagnosis of mild intellectual disability at the age of five. The family’s move to Quincy, Illinois, marked a period of increased worry for Megan and Kyle.
Consulting a neurologist led to genetic testing for Poppy, revealing she had Sanfilippo syndrome type B, often referred to as ‘childhood dementia.’ This rare genetic disorder causes progressive neurodegeneration, impacting cognitive abilities and shortening lifespan.
Given the genetic nature of the disease, Oliver was also tested, confirming he had the same condition. The devastating news brought a mix of relief from having a diagnosis but also the harsh reality of limited life expectancy for their children.
Despite being told there was no cure, Megan and Kyle refused to accept that fate. They sought alternative treatments and found promise in enzyme replacement therapy, currently in clinical trials and awaiting FDA approval.
Through fundraising efforts, Megan and other families affected by Sanfilippo syndrome have raised significant funds, hopeful that the treatment will be available by 2027. The road ahead is challenging, but they remain optimistic about providing a better future for all children affected by this rare disease.