The family of a 5-year-old girl that has been diagnosed with a terminal condition that is very similar to Alzheimer’s is racing to create memories for her before she begins to lose her memories. The rare genetic condition is terminal, making their effort all the more urgent as they spend as much time as possible with their young daughter, hoping the memories they make together will last.
Sophia Scott is from Glasglow and is suffering from Sanfilippo Syndrome. In time, her memory will begin to fade, just as an elderly adult with Alzheimer’s, and her body will start to deteriorate. However, rather than sit by and hope for a cure as their daughter’s quality life simply fades away, Sophia’s parents, Darren and Amanda Scott, have chosen to make her life as memorable as possible.
Sophia Scott, from Glasgow, has Sanfilippo syndrome, a rare genetic and terminal condition that means she will… https://t.co/yhRPwlCjeP
— Tanveer Mann (@tanny_mann) January 15, 2017
According to Metro, only about 40 children in the United Kingdom suffer from Sanfilippo Syndrome. Sophia is the only child in Scotland that is suffering from the rare genetic disease.
Sophia’s diagnosis began when she was only 2-years-old after staff at her nursery noticed her speech was not developing normally. Sophia’s parents took her to speech therapy but were soon referred to another specialist that claimed she had glue ear, a common condition in which the middle ear becomes engorged with fluid. However, further testing soon revealed the diagnosis of Sanfilippo Syndrome.
Sophia’s parents were horrified at the diagnosis. There is so little known about Sanfilippo Syndrome, Amanda and Darren cannot be certain how long Sophia will live or what sort of quality of life they can expect as she begins to lose her memory and her body starts to shut down.
Amanda Scott reminisced about how hard the diagnosis hit her.
“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. 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.”
Sophia’s father Darren had no idea the Sanfilippo Syndrome existed, according to the Daily Mail. As such, he and his wife had to research and teach themselves everything there is to know about it.
“Before Sophia’s diagnosis, we didn’t even know this existed. 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’s diagnosis arrived just one day before her fourth birthday. For two years, doctors scrambled to find out what was wrong with her.
At first, it was nearly impossible for Amanda or Darren to cope with the diagnosis. However, over time, they decided that their worry was not going to help the situation at all. So, they decided to do something positive and begin to live in the moment, rather than dwell in the ‘what ifs’ of the future.
Essentially, everything that Sophia has learned will eventually be unlearned. There is no way to tell if her body will deteriorate first or if her memory will begin to fade first. However, Amanda and Darren try not to worry about that now. Instead, they have chosen to stuff as many memories into Sophia’s mind as possible in the short time she has remaining, hoping just one of them will remain until the end.
Darren and Amanda Scott plan to fly Sophia to America, Europe, and Australia beginning in April to meet with experts on Sanfilippo Syndrome. Recent scientific breakthroughs in gene therapy have brought hope to reversing the impact of Sanfilippo Syndrome.
“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.”
Darren and Sophia Scott have set up a charity, Hundreds of Promises, that raises money to support the continued research into Sanfilippo Syndrome. Some of the money may also assist in purchasing specialized items Sophia may need in the future as her health declines.
More information about Sophia’ condition, fund raising events, and updates on her progress can be found on her Facebook page.
[Featured Image by Purino/Shutterstock]