A 15-year-old girl in Scotland was diagnosed with childhood dementia the day before her fourth birthday, and her parents are desperately trying to spread awareness about the need for more research surrounding her condition.
Sophia Scott's parents noticed signs that something might be wrong when she was 3 years old, her father, Darren Scott, said in an interview with Sky News.
Teachers at Sophia's school told her parents that her reading skills were regressing, prompting them to order her glasses and schedule what seemed like routine tests. However, they never suspected what would come next.
On the day before her fourth birthday, Sophia was diagnosed with a rare genetic condition known as Sanfilippo syndrome. Sanfilippo causes childhood dementia, and most children diagnosed do not survive into adulthood.
About 1 in 70,000 children worldwide is diagnosed annually with the rare condition, per the Sanfilippo Children's Foundation.
"It was delivered like a complete thunderbolt," Darren, 46, said to Sky News while recalling the moment when doctors in Glasgow told them the devastating news. "We were told ... there was nothing they could do. It was a moment that broke us, shattered our lives. We have never recovered."
Darren said the doctors then proceeded to give them a single sheet of paper containing information about the condition and sent them home.
"We were left on the street, vomiting outside the hospital, collapsing, being told our daughter was going to die," he added.
Sophia continued to develop normally until about the age of 6, at which point she began to both cognitively and physically decline. She has now lost almost all of her abilities, according to her father.
"Life has been robbed and stolen from Sophia. My little girl, who was all singing, all dancing, ballet, swimming, skiing ... is having her life slowly and surely drained from her every day. I have to sit and watch that," he told the outlet.
"Throughout that period, she has lost her speech, which is incredibly difficult ... Those last words begin to fade, and you try to hold on to them," he added.
Darren said his family's trauma has been compounded by the fact that there is still very little information available on Sanfilippo syndrome -- especially when compared to the vast amounts of data that now exists on conditions like Alzheimer's disease.
"There is no support, there is no funding, there is no research, there are no trials," he said.
Darren has since established a GoFundMe to help keep Sophia as comfortable as possible as her condition continues to progress, as well as to help raise awareness for the syndrome.
Sophia has had to endure over 30 different symptoms and counting, ranging from sleep apnea and seizures to double scoliosis and bowel issues," he wrote on the fundraising page. "Yet we live the fullest life possible, smile, laugh and live for the day whilst holding onto hope for a future."
He added that their family has navigated this difficult journey while "there is little recognition and even less support for Sophia and children like her suffering from these 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 went on to say that support creates further awareness for the condition, "which in turn creates hope for us" -- while also noting that his family, as well as 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.