After a smooth pregnancy, new parents Megan and Kyle Kempf initially had no worries about their daughter Poppy. However, they eventually noticed a troubling regression in her drawing abilities, leading to concerns about her health. Despite seeking medical advice, it took five years to receive a diagnosis.
The family now faces the harsh reality that both Poppy and her younger brother Oliver have a rare, incurable disease that significantly reduces life expectancy. Yet, Megan and Kyle remain hopeful about a new treatment awaiting medical approval.
Megan, 37, first became alarmed when three-year-old Poppy began struggling with drawing detailed figures, reverting to simple circles. Further investigations revealed additional issues like sleep apnea and bedtime fears. Concerned about her development, they sought medical help, leading to a diagnosis of mild intellectual disability at age five.
Following a neurologist’s recommendation, Poppy underwent DNA testing, confirming Sanfilippo syndrome type B, a rare genetic disorder causing progressive neurodegeneration primarily affecting the brain and spinal cord.
The genetic nature of the disease prompted testing for baby Oliver, who also tested positive. Megan revealed their disbelief upon learning the life expectancy for children with the syndrome, with most not surviving past 18 years.
Despite the lack of a cure, the family refused to accept the grim prognosis and began exploring alternative treatments. They discovered a potential therapy involving enzyme replacement to address the enzyme deficiency causing the disorder, though it is still in clinical trials and pending FDA approval.
Megan and other families affected by Sanfilippo syndrome have raised substantial funds and are optimistic about the treatment’s potential approval by 2027. Their goal is to provide a solution for all children battling the disease, emphasizing the challenges of bringing rare pediatric treatments to market.
For those interested in supporting their cause, donations can be made at the provided link.