New parents Megan and Kyle Kempf were initially unconcerned about their daughter Poppy’s development following a typical pregnancy. However, they were alarmed when they noticed her drawing skills regressing. Poppy, at just three years old, displayed subtle signs of a potential health issue. Despite seeking medical advice, it took five years to receive a diagnosis for their daughter.
The family now faces the devastating reality that both Poppy and her younger brother Oliver have a rare, incurable disease that significantly reduces life expectancy. Nevertheless, Megan and Kyle are holding onto hope for a new treatment pending medical approval.
Megan, 37, observed Poppy drawing at the age of three and noticed a decline in her ability to draw detailed figures. Further investigations revealed additional concerns, including sleep apnea and fear of bedtime. The family’s worries escalated when Poppy’s developmental delays became more pronounced compared to her peers, resulting in a diagnosis of mild intellectual disability at age five.
Following a visit to a neurologist, eight-year-old Poppy underwent genetic testing, which confirmed a diagnosis of Sanfilippo syndrome type B, a rare genetic disorder known as ‘childhood dementia.’ This disorder, caused by an enzyme deficiency, affects the brain and spinal cord, leading to progressive neurodegeneration and a host of symptoms such as intellectual disability and behavioral issues.
Upon discovering the genetic nature of the disease, the Kempfs had their son Oliver tested, and sadly, he also tested positive for the condition. With a bleak prognosis of a shortened lifespan for their children, the parents refused to accept the lack of treatment options and began exploring alternative solutions.
One potential avenue is enzyme replacement therapy, a treatment in development that aims to replace the missing enzymes in Sanfilippo patients’ cells. Although promising, the therapy is currently in clinical trials and awaits FDA approval in the US.
In a bid to accelerate access to the treatment, Megan and other affected families have raised significant funds and remain optimistic about its approval by 2027. Their ultimate goal is to provide a solution for all children affected by this rare disease.
If you wish to support their cause, you can donate to their campaign at give.curesanfilippofoundation.org/campaign/732486/donate.