A mother has opened up on the rare health condition that both of her children have been diagnosed with.
Both the parents opened up on the condition in an emotional video about the disease which has become known as 'childhood dementia'.
Megan Kempf, 37, spoke about her daughter and son's deteriorating health conditions and how it has affected the family.
Poppy, nine, was diagnosed with mild intellectual disability when she started school, years after she forgot how to draw at just three years old. It meant that she experienced a slower development in thinking, social, and daily living skills throughout her early years.
Advert
After a trip to a medical expert and following genetic testing, it was found that Poppy had Sanfilippo syndrome type B, a rare genetic neurodegenerative lysosomal storage disorder.
Just eight at the time, her parents then decided to bring their toddler son, Oliver, to get tested. He was also diagnosed with the disease at age two.
Unfortunately, there are no available options for the siblings, though their mum managed to raise $5.5 million with 14 other families for enzyme replacement therapy, a method which hasn't yet been approved by the Food and Drug Administration (FDA). The treatment consists of replacing enzymes missing due to the disease, which are produced in a lab.
Speaking about Poppy, Megan 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."
The Illinois-based family were left heartbroken by the news, with Megan pointing out that they were going to qualify for Make-A-Wish but they were 'not going to be okay' with accepting that fate.
Symptoms of the condition are comparable to those with regular dementia, with the kids not expected to live past their teenage years.
Megan recalled having a 'normal pregnancy' with her daughter, though both her and husband Kyle realised Poppy regressed in her development when she was three.
Poppy went from drawing bodied characters to only being capable of drawing circles. Megan also explained that they'd discovered that their daughter had sleep apnea.
Having worried about the effects of this condition on her delays, she explained: "Nothing was super identifiable or severe, so we were being told to wait and see."
She was less developed compared to her peers at the age of five, and Megan and Kyle decided to bring her to a neurologist, who referred them to 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 realised, as it is genetic, that we needed to get our newborn son, Oliver, tested too."
After finding this out, she admitted that 'never in a million years did we expect to get a life expectancy for our children', as health experts told her that children with Sanfilippo syndrome type B typically don't live past 18.
The Cure Sanfilippo Foundation say that that enzyme replacement therapy is a promising treatment which can be developed in due time, as it is currently still in clinical trials.
The 15 families, including the Kempfs, who initially raised the money to support this, are hoping for the drug's release by 2027. Megan explained that 'it will take a lot of attention and effort' for it to hit the market.
To donate to their campaign, visit: Poppy & Oliver Kempf - National MPS Society
Joshua Nair