Mum’s heartbreak as each children given ‘childhood dementia’ analysis after one delicate signal

Mum Megan Kempf noticed her daughter Poppy forgetting how to draw at age three – a subtle warning sign that led to both her children being diagnosed with Sanfilippo syndrome, dubbed ‘childhood dementia’

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A mum has revealed her heartbreak after noticing one single subtle warning sign that resulted in both her children receiving a diagnosis of a condition known as ‘childhood dementia’.

Megan Kempf, 37, found out both her daughter Poppy, nine, and son Oliver, two, have the cruel disease and may not live passed their 18th birthday. The mum spotted that her daughter Poppy was losing the ability to draw when she was just three years old.

When Poppy began school, she received a diagnosis of mild intellectual disability – a condition characterising delayed progress in cognitive abilities, social interaction, and everyday living skills.

Megan and her husband Kyle, 36, arranged for Poppy to see a geneticist, and genetic screening uncovered that Poppy had Sanfilippo syndrome type B – an uncommon genetic, neurodegenerative lysosomal storage disorder – at the age of eight.

The pair chose to have their newborn son, Oliver, aged two, examined, and he too received the same diagnosis.

Tragically, no therapeutic interventions exist for Poppy and Oliver, prompting Megan to collaborate with other families to raise $5.5million (around £4m) towards enzyme replacement therapy, which awaits Food and Drug Administration (FDA) approval.

Megan, a stay-at-home mum from Quincy, Illinois, said: “We had noticed that her drawing skills had regressed; she would be able to draw bodied characters, and we she would regress to drawing circles.

“After Poppy and Oliver were diagnosed, we were told there was nothing doctors could do.

“We were given clinical guidelines, and they told us we were going to qualify for Make-A-Wish, and told to make the best time with our kids.

“We were not going to be ok with that. There is nothing to slow down the progression of the disease. We were told there was no treatment or cure, so we immediately started pursuing alternative options.”

Megan revealed she experienced a “normal pregnancy” with Poppy.

When Poppy reached three years of age, Megan and Kyle, who works as a director, observed that she would experience setbacks in her development.

Megan spotted that her artistic abilities would deteriorate, and she would go from sketching figures with bodies to only being capable of drawing circles.

“We started to investigate more things, and found that Poppy had sleep apnea; she would start getting afraid of bedtime,” Megan explained.

“I was concerned that her sleep apnea was exacerbating her delays.

“We were having all these concerns, but nothing was super identifiable or severe, so we were being told to wait and see.”

Once Poppy began school, her developmental delays became more obvious. At five years old, she was less advanced compared to her classmates, and she received a diagnosis of mild intellectual disability.

Following their relocation to Quincy, Illinois, from Tulsa, Oklahoma, Megan and Kyle remained worried about Poppy’s progress, prompting them to consult a neurologist who suggested Poppy should see a geneticist.

Megan explained: “We had Poppy’s entire DNA genome sequencing, and that came back testing positive for Sanfilippo syndrome type B.

“At that moment, we realized, as it is genetic, that we needed to get our newborn son, Oliver, tested too. Three weeks later, we were told that Oliver had tested positive, too.

“To have a diagnosis provided a sense of relief, but never in a million years did we expect to get a life expectancy for our children.

“We were told that most children with Sanfilippo syndrome type B don’t survive past 18, and Poppy is nine – she is halfway there.”

Refusing to surrender hope, Megan alongside 14 other families has discovered a potential treatment that’s currently pending FDA approval.

These families continue fundraising efforts to secure enzyme replacement therapy for their youngsters – substituting the absent enzymes in Sanfilippo with laboratory-produced alternatives.

The Cure Sanfilippo Foundation states that enzyme replacement therapy represents a hopeful treatment being developed to deliver the absent enzyme to the body’s cells, although it remains in clinical trials and isn’t yet a cure.

Megan and fellow Sanfilippo families have successfully gathered $5.5 million and remain “hopeful” the medication will receive approval, with expectations their children could access it by 2027.

“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.

“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.”

To donate to their campaign, visit: https://give.curesanfilippofoundation.org/campaign/732486/donate.

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