After a typical pregnancy, new parents Megan and Kyle Kempf initially had no concerns about their daughter Poppy. However, they became alarmed when they noticed her drawing skills regressing. At just three years old, they observed a subtle indication that something more serious might be affecting Poppy’s health. Despite raising their concerns with medical professionals, it took five years to receive a diagnosis.
The couple now faces the heartbreaking reality that both Poppy and her younger brother Oliver have a rare, incurable disease that significantly reduces their life expectancies. However, they are holding onto hope for a new treatment pending medical approval.
Megan, 37, first became worried when she witnessed Poppy drawing simple figures instead of detailed characters at age three. Further investigations revealed additional issues, including sleep apnea and fear of bedtime. Concerned about her development, Megan expressed her worries, but initial assessments did not provide clear answers.
Upon entering school, Poppy’s developmental delays became more evident compared to her peers. At age five, she was diagnosed with mild intellectual disability, signaling slower progress in cognitive, social, and daily living skills. The family’s move to Quincy, Illinois, prompted further medical evaluations.
Consulting a neurologist led to a recommendation for genetic testing, which eventually confirmed that Poppy, then eight, had Sanfilippo syndrome type B. This rare genetic disorder, often referred to as ‘childhood dementia,’ results from an enzyme deficiency, primarily affecting the brain and spinal cord, leading to progressive neurodegeneration.
Given the genetic nature of the disease, Oliver was also tested and found positive for the same condition. The devastating news came with a grim outlook, as most individuals with Sanfilippo syndrome type B do not survive past their late teens or twenties.
Despite the lack of a cure, Megan and Kyle refused to accept the prognosis and immediately sought alternative treatments. Enzyme replacement therapy emerged as a potential option, aiming to replace the missing enzymes responsible for Sanfilippo syndrome in the body.
While the therapy shows promise, it remains in clinical trials and awaits FDA approval in the US. With efforts underway to raise awareness and funding, Megan and other affected families are optimistic about the drug’s potential approval by 2027. Their goal is to provide a solution for children battling this devastating disease.
To support their cause, donations can be made at give.curesanfilippofoundation.org/campaign/732486/donate.
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