Finally, 22-month-old Kole was diagnosed with a rare genetic disease, also known as childhood dementia. The prognosis is grim – untreated children with this disease gradually lose the ability to speak, walk, eat, and usually do not survive to adulthood. “The Sun” writes about the family’s story.
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The mother says that from the very beginning she felt that her youngest son, Kole, was different from other children. At 15 months old, he still couldn’t sit independently, and his speech development was delayed.
The turning point came at the end of 2025, when the woman saw a video on social media about another child suffering from Sanfilippo syndrome.
“It just broke my heart. I immediately understood that it could be my son,” she recalled. The tests confirmed her intuition.
The disease they call childhood dementia
Kole was diagnosed with Sanfilippo syndrome – a rare genetic disease, also known as MPS III. It occurs in approximately one in 70,000 newborns.
The disease is caused by a genetic defect when the body lacks a certain enzyme. As a result, substances accumulate in the body, which eventually damage the brain.
The disease progresses, so the child gradually loses the abilities already acquired.
In the first years of life, children often appear completely healthy, but later, speech, movement, and developmental disorders begin to emerge. The disease progresses, so children gradually lose the abilities they have already acquired.
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For this reason, Sanfilippo syndrome is often called childhood dementia or childhood Alzheimer’s disease.
What does the future hold?
Bethany does not hide that the hardest thing is to come to terms with the fact that one day her son may lose all the skills he is currently learning. “He will lose the ability to speak, walk, eat, which many of us take for granted,” said the boy’s mother.
Currently, Kole is still making progress. In recent months, he has learned to sit, crawl, walk, and make his first sounds. “His character is increasingly revealing itself. Everyone says he is the happiest child they have ever met,” the mother recounted.
The family does not lose hope
Currently, there is no approved treatment for Sanfilippo syndrome in the United Kingdom. However, a clinical gene therapy trial is expected to begin in the US this year.
It is hoped that the treatment could help correct the genetic defect causing the disease.
To give her son a chance to participate in the treatment, the family started fundraising. But for now, that’s not the most important thing for them. “If there’s one thing Kole will take from this world, it will be love,” said the boy’s mother.
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