A mother from Illinois has brought attention to the subtle warning signs that led to her daughter’s diagnosis of a rare form of childhood dementia. Megan Kempf, 37, observed significant changes in her daughter Poppy’s drawing skills, noting that she had shifted from creating detailed figures to drawing simple circles. This regression was an early indicator of the challenges to come.
Initially, Poppy’s development appeared typical until she began school. It was there that her parents noticed discrepancies, leading to a diagnosis of mild intellectual disability, characterized by slower development in cognitive and social skills. As Poppy, now nine, struggled with anxiety and sleep issues, further investigations revealed she had sleep apnoea, a condition that disrupts breathing during sleep and can lead to difficulties in concentration during the day.
Megan reflected on the process of seeking answers for her daughter, stating, “I was concerned that her sleep apnea was maybe exacerbating her delays,” but noted that they were advised to “wait and see.” Eventually, a neurologist referred the family to a geneticist, where they underwent comprehensive DNA genome sequencing. The results confirmed that Poppy had tested positive for Sanfilippo syndrome type B, a rare form of childhood dementia.
Sanfilippo syndrome is a progressive disorder caused by a deficiency in an enzyme responsible for breaking down a complex molecule called heparan sulphate. Without this enzyme, harmful substances accumulate in the body, leading to severe cognitive decline and loss of motor skills. In Poppy’s case, symptoms manifested as early as three years old, including significant developmental delays.
While the diagnosis brought some relief, it also revealed that her younger brother, Oliver, was at risk. Following Poppy’s diagnosis, the family decided to have Oliver tested, and three weeks later, they received the devastating news that he, too, had tested positive for the same rare condition.
Megan recounted the moment of learning about their children’s prognosis, stating, “We were told most children with Sanfilippo syndrome type B don’t survive past 19, and that there was nothing the doctors could do.” Poppy is currently nine, leaving her family with a limited timeframe to seek interventions.
Despite the grim outlook, the Kempf family is determined to pursue treatment options. They have joined forces with other families affected by Sanfilippo syndrome, raising over $5.5 million to fund research for enzyme replacement therapy. Megan expressed her hope that new drug treatments could be approved soon, stating, “We are hopeful that the drugs will be on the market next year, but it will take a lot of attention and effort to get there.”
The Cure Sanfilippo Foundation supports the development of therapies for this condition, while the Society for Mucopolysaccharide Diseases indicates that around 140 children in the UK are currently living with Sanfilippo syndrome.
Sanfilippo syndrome, also known as MPS III, is an inherited metabolic disorder that typically becomes evident in early childhood. Symptoms may include a decline in learning abilities, behavioral issues, and physical impairments. As the condition progresses, children face significant challenges, including loss of speech and mobility.
The Kempf family’s advocacy highlights the urgent need for awareness and research into rare childhood diseases. As they navigate their circumstances, they aim to foster hope for their children and others facing similar challenges.
