For Megan and Kyle Kempf, a simple childhood activity – drawing with crayons – became the first heartbreaking clue that something was seriously wrong with their daughter. What began as a mother's concern over developmental regression has led to a devastating diagnosis for both their children: a rare, incurable condition often dubbed 'childhood dementia'.
The Subtle Sign That Sparked Concern
Megan Kempf, 37, first grew concerned when watching her three-year-old daughter, Poppy, draw. The little girl, who had previously been able to sketch people with bodies, suddenly regressed to drawing only circles. This loss of a skill she once possessed was a red flag for the stay-at-home mum.
"I was concerned that her sleep apnea was exacerbating her delays," Megan explained. Alongside the drawing regression, Poppy developed a fear of bedtime and was diagnosed with sleep apnoea. Despite raising multiple concerns with doctors, the family were often told to "wait and see", as nothing appeared severe enough for immediate alarm.
The delays became more pronounced when Poppy started school, lagging behind her peers. At age five, she was diagnosed with a mild intellectual disability. The family's move from Tulsa, Oklahoma, to Quincy, Illinois, prompted further investigation, leading them to a neurologist and, ultimately, a geneticist.
A Devastating Genetic Diagnosis
After full DNA genome sequencing, Poppy, then eight, was diagnosed with Sanfilippo syndrome type B. This rare, genetic neurodegenerative disorder is caused by an enzyme deficiency. It primarily attacks the brain and spinal cord, causing progressive damage.
Symptoms include intellectual disability, severe behavioural issues, and developmental regression – effectively robbing children of skills they have already learned. Tragically, the disease drastically shortens life expectancy, with most patients not surviving past their late teens or twenties.
Because Sanfilippo is genetic, Megan and Kyle, 36, had their newborn son, Oliver, tested immediately. "Three weeks later, we were told that Oliver had tested positive, too," Megan revealed. The diagnosis provided grim clarity. "We were told that most children with Sanfilippo syndrome type B don't survive past 18, and Poppy is nine - she is halfway there."
Fighting for a Future: Pinning Hopes on New Treatment
Faced with a disease for which there is no cure and no approved treatment to slow its progression, the Kempfs refused to accept the clinical guidelines they were given, which included qualifying for the Make-A-Wish foundation.
Instead, they began tirelessly researching alternatives. They discovered a promising treatment in development: enzyme replacement therapy. This experimental approach aims to replace the missing enzymes in the body's cells with lab-produced versions.
According to the Cure Sanfilippo Foundation, it represents significant hope, though it remains in clinical trials and is not yet a cure. The therapy is currently awaiting approval from the US Food and Drug Administration (FDA).
Megan, alongside other affected families, has helped raise an impressive $5.5 million to fund research and push for access. "We are hopeful that the drugs will be on the market next year," she said, targeting 2027. "It is hard to get a rare disease to market, and if it is a pediatric disease, your patient doesn't live long. We mostly want there to be an answer for all these children."
The family's journey from a worrying crayon drawing to a dual diagnosis underscores the brutal reality of rare diseases. Their story is now one of determined advocacy, clinging to the hope that medical science can offer their children, Poppy and Oliver, more time.
