Girl Diagnosed with Childhood Dementia Day Before Her 4th Birthday: ‘It Was a Moment That Broke Us,’ Her Dad Says

A 15-year-old girl in Scotland was diagnosed with childhood dementia the day before her fourth birthday, and her parents are working to raise awareness about the urgent need for more research into her condition.

Sophia Scott’s parents first noticed something wasn’t right when she was 3, her father Darren Scott said in an interview with Sky News.

Teachers at Sophia’s school told her parents her reading skills appeared to be regressing. Thinking it might be something routine, they ordered glasses and arranged standard tests — not expecting a life-altering diagnosis.

The day before her fourth birthday, Sophia was diagnosed with a rare genetic condition called Sanfilippo syndrome. The disorder causes childhood dementia, and many children diagnosed do not survive into adulthood.

An estimated 1 in 70,000 children worldwide is diagnosed each year, according to the Sanfilippo Children’s Foundation.

“It was delivered like a complete thunderbolt,” Darren, 46, told Sky News, recalling the moment doctors in Glasgow shared the news. He said they were told there was nothing that could be done. Darren added that they were given a single sheet of paper with information about the condition and then sent home.

“We were left on the street, vomiting outside the hospital, collapsing, being told our daughter was going to die,” he said.

Sophia continued developing normally until around age 6, when her father said she began to decline both cognitively and physically. Since then, Darren said she has lost most of her abilities.

“Life has been robbed and stolen from Sophia,” he said, remembering his daughter’s love of singing, dancing, ballet, swimming, and skiing. “She is having her life slowly and surely drained from her every day. I have to sit and watch that.”

He also said her loss of speech has been especially heartbreaking. “Those last words begin to fade, and you try to hold on to them,” he said.

Darren said their trauma has been made worse by how little information and support exists for Sanfilippo syndrome, especially compared with conditions such as Alzheimer’s disease.

“There is no support, there is no funding, there is no research, there are no trials,” he said.

To help keep Sophia as comfortable as possible as her condition progresses — and to spread awareness — Darren has set up a GoFundMe fundraiser.

On the fundraising page, he wrote that Sophia has faced “over 30 different symptoms and counting,” including sleep apnea, seizures, double scoliosis, and bowel issues. Despite it all, he said the family tries to live as fully as they can, “smile, laugh and live for the day,” while holding on to hope.

He added that their family has had to navigate this journey with “little recognition and even less support” for Sophia and other children living with childhood dementia conditions.

“Therefore, we fight for our daughter and others like her to be recognized, supported and cared for in the same way dementia is in adults or other terrible childhood conditions like cancer,” Darren wrote.

He said increased support can build awareness — “which in turn creates hope for us” — while stressing that families like his are “losing the battles against time.”

As of Friday, Jan. 16, the GoFundMe had raised $280 toward an ultimate goal of $3,350.