Five-year-old battling terminal ‘Alzheimer’s-like disease’ will gradually unlearn everything she knows
Sophia Scott was diagnosed with the genetic condition Sanfilippo syndrome two years ago
AT the age of just five, little Sophia Scott is battling a rare Alzheimer's-like disease.
Having learned to walk, talk, write her name and ride her scooter, the youngster faces losing her memory, and potentially her life.
She was diagnosed with Sanfilippo syndrome, a rare genetic and fatal condition two years ago.
Experts have warned her parents Darren and Amanda, that their daughter will lose her memory, and her body will deteriorate - in a similar way to someone with dementia.
The five-year-old is thought to be the only person in Scotland with the condition - and experts estimate she is one of just 40 sufferers across the whole of the UK.
At the moment Sophia has boundless energy and a beautiful, infectious smile.
She loves nothing more than riding her scooter, dancing, dolls, shopping, birthdays – and anything purple.
Darren and Amanda have taught her all the normal things, such as how to write her name and brush her teeth, but also how to ski when she was just 23 months old.
They watched her take her first steps, say her first word and held back the tears at the gates while Sophia skipped off for her first day at school.
Since she was born, every waking moment of every day has been about making memories.
But sadly, these days are numbered.
We don’t know how long she has left. The condition means she will progressively unlearn everything.
Darren Scott
Sanfilippo syndrome, is dubbed 'childhood Alzheimer's', because it shares some of the same symptoms.
Like dementia patients, Sophia will lose her memory, and her body and mind will begin to shut down, bit by bit.
The condition, which affects around one in 100,000 people, is a progressive illness, which means the symptoms develop gradually and become more severe over the course of several years.
“Before Sophia’s diagnosis, we didn’t even know this existed,” Darren, 38, said.
“Sophia’s consultant has only ever seen 10 cases in his career.
“So little is known about it, we’ve had to educate ourselves about what the future holds.”
Sophia was diagnosed with the genetic disorder two years ago - just a day before her fourth birthday.
“One minute we were talking about trampolines, the next we were being told our daughter has a terminal illness and wouldn’t survive until her early teens,” said mum Amanda, 40.
Related Stories
“We were told she was going to have a short life, and there was no treatment or cure, just to live in the now – and take lots of pictures. It shattered our world.”
The diagnosis came out of the blue.
When Sophia was two, nursery staff noticed her speech wasn’t developing as it should.
At first, they thought it was a speech impediment and referred her for therapy.
Then, after numerous tests, it was found she had glue ear.
But, more tests revealed the heartbreaking news.
Darren and air hostess Amanda initially struggled to digest it – especially as Sophia was such a healthy, active little girl.
“Sanfilippo is pretty much hidden for the first few years,” Darren said.
“Even when Sophia was diagnosed, there were no major problems or symptoms.
“To go from thinking she was fine to having a terminal illness was hard to take.
AN ALZHEIMER'S-LIKE DISEASE
IN 2009 scientists at the University of California, Los Angeles made a surprising discovery while investigating the causes of Sanfilippo syndrome.
They discovered key proteins, that are usually seen in patients with Alzheimer's and other forms of dementia, were present in people with the rare genetic condition.
Sanfilippo syndrome affects around one in every 100,000 people, and is caused by a recessive gene.
This means if both parents carry the gene, there is a one in four chance of their offspring inherting the defective gene from each parent - and being diagnosed with the condition.
The disease progresses in each child differently, in some it is much faster than others.
Over time a child's language and ability to understand will be lost, along with their memory.
They will begin to slow down and eventually it is likely they will lose the ability to walk.
The UCLA scientists noted most sufferers will pass away before they reach 20.
Their discovery, that P-tau proteins in the brain play a role, mean people with Sanfilippo could one day benefit from the wealth of research into Alzheimer's disease.
At the time of their findings, published in the journal Proceedings of the National Academy of Sciences, they wrote: "With the increasing incidence of Alzheimer's disease, we expect to see new drugs developed to prevent these neurofibrillary tangles or dissolve them.
"Our findings suggest those treatments could also benefit patients with this rare genetic disorder."
Source: UCLA and
“For two years, we couldn’t talk about it. We just couldn’t get the words out without breaking down.
“We didn’t cope well at all.
“But now, we’ve accepted it and we’re all about living in the now, in the moment.
“It’s all we can do as we don’t know how long she has left.”
He added: “The condition means she will progressively unlearn everything.
“Which functions it will affect first and at what speed she will deteriorate, we don’t know, but it will effectively lead to a decline in her body and mind, her mobility, her speech…everything.”
Restaurant owner Darren has immersed himself in trying to research his daughter's condition.
In April he will fly to Europe, the US and Australia, to meet experts in a bid to find out if there is anything that can be done.
“Recently, there was a scientific breakthrough in gene therapy,” he explained.
“The amazing thing is, it can stop the whole process and, if caught early, even reverse some of the symptoms.
“It’s early days, as to go through trials and be licensed takes years, but we believe there’s something out there to save Sophia. "We have to. We were told there’s no cure, but we’re not willing to accept that.
“And if there’s one out there, we’re determined to find it.”
At the moment, Sophia is progressing well and showing little signs of the illness.
“Her speech is a little behind and she struggles to focus her attention on a task for any more than a few minutes,” Amanda said.
We’re holding on to hope and living for the moment. If it’s going to be a short life, we’re determined to make the most of it
Darren Scott
“Cognitively, she’s a few years behind.
“But she’s attending mainstream school and progressing. As long as she’s progressing, we know she’s beating it.
“Of course that could all change in a heartbeat, but it’s good news for now.”
The family are now turning their efforts to making lots of memories with Sophia .
Dad Darren said: "We could wrap her up in cotton wool, but what would be the point?
"We're holding on to hope and living for the moment.
"If it's going to be a short life, we're determined to make the most of it."
Darren and Amanda have set up a charity, Hundreds of Promises, to fund research into Sophia's condition - and to raise money for any adaptations she may need to help her live in future.
To date they have raised £40,000.
We pay for your stories! Do you have a story for The Sun Online news team? Email us at [email protected] or call 0207 782 4368