Glasgow family's race to make memories for girl aged 5 who has childhood Alzheimer's

Sophia Scott has Sanfilippo syndrome, a uncommon genetic and terminal situation

A five-year-old is believed to the youngest particular person in Scotland with a situation escribed as a childhood type of Alzheimer's.

Sophia Scott, from Glasgow, has Sanfilippo syndrome, a uncommon genetic and terminal situation which means she's going to lose her reminiscence and her thoughts and physique will deteriorate. 

Sophia is the one reported case in Scotland and there are simply 40 youngsters with the sickness in the entire of the UK.

Dad and mom Darren and Amanda Scott, from Glasgow, are looking for a remedy however, within the meantime, are making as many recollections as doable with their daughter.

They describe her as a toddler with boundless power and an attractive, infectious smile who loves nothing greater than driving her scooter, dancing, dolls, procuring, birthdays - and something purple.

The couple are educating her as many thrilling new hobbies as doable and even taught her to ski when she was simply 23 months previous. 

Sophia is anticipated to lose the abilities she has perfected. The illness will shut down her physique and thoughts and she or he might not make it to her teenage years.

Dad and mom Darren and Amanda Scott, from Glasgow, are looking for a remedy for his or her daughter

Within the meantime the couple are making as many recollections as doable with Sophia and even taught her to ski when she was simply 23 months previous

The situation impacts about one in 100,000 folks and is a progressive sickness, which implies the signs develop regularly turning into extra extreme over the course of a number of years.

Mr Scott mentioned: 'Earlier than Sophia's analysis, we did not even know this existed. Sophia's guide has solely ever seen 10 circumstances in his profession.

'So little is thought about it, we have needed to educate ourselves about what the longer term holds.'

Sophia was recognized with the genetic dysfunction two years in the past - the day earlier than her fourth birthday.

Mrs Scott, 40, mentioned: 'One minute we have been speaking about trampolines, the following we have been being advised our daughter has a terminal sickness and would not survive till her early teenagers.

'We have been advised she was going to have a brief life, and there was no therapy or remedy, simply to stay within the now - and take a lot of footage. It shattered our world.'

Sophia was recognized with the genetic dysfunction two years in the past - the day earlier than her fourth birthday

When Sophia was two years previous nursery employees seen her speech was not creating because it ought to. At first, they believed it was a speech obstacle and referred her for remedy.

After quite a few assessments she was discovered she had glue ear, a typical childhood situation the place the center ear turns into stuffed with fluid.

Nonetheless, when her speech didn't enhance, extra assessments revealed Sanfilippo syndrome. 

Her mother and father couldn't imagine the analysis, particularly since Sophia was such a wholesome and lively little woman.

'Sanfilippo is just about hidden for the primary few years,' Mr Scott mentioned.

'Even when Sophia was recognized, there have been no main issues or signs.

'To go from pondering she was high quality to having a terminal sickness was arduous to take.

'For 2 years, we could not speak about it. We simply could not get the phrases out with out breaking down.

'We did not cope properly in any respect. However now, we have accepted it and we're all about residing within the now, within the second.

'It is all we will do as we do not understand how lengthy she has left.'

He added: 'The situation means she's going to progressively unlearn the whole lot.

'Which capabilities it is going to have an effect on first and at what pace she's going to deteriorate, we do not know, however it is going to successfully result in a decline in her physique and thoughts, her mobility, her speech the whole lot.'

When Sophia was two years previous nursery employees seen her speech was not creating because it ought to. At first, they believed it was a speech obstacle and referred her for remedy

Since Sophia's analysis restaurant proprietor Mr Scott says he has barely slept.

The doting father spends his nights researching different Sanfilippo circumstances and liaising with households and consultants who've expertise of the situation in a bid to discover a medical therapy trial.

In April, he'll fly to Europe, America and Australia, assembly consultants within the hope of discovering a remedy for Sophia earlier than it's too late.

'Lately, there was a scientific breakthrough in gene remedy,' he defined.

'The superb factor is, it may cease the entire course of and, if caught early, even reverse among the signs.

'It is early days, as to undergo trials and be licensed takes years, however we imagine there's one thing on the market to save lots of Sophia. We now have to.

'We have been advised there isn't any remedy, however we're not prepared to just accept that.

'And if there's one on the market, we're decided to search out it.'

Sophia is progressing properly for the time being and exhibiting little indicators of the sickness.

In April, Mr Scott will fly to Europe, America and Australia to fulfill medical consultants within the hope of discovering a remedy for Sophia earlier than it's too late

'Her speech is a bit of behind and she or he struggles to focus her consideration on a activity for any quite a lot of minutes,' Mrs Scott mentioned. 'Cognitively, she's just a few years behind.

'However she's attending mainstream college and progressing. So long as she's progressing, we all know she's beating it.

'After all that might all change in a heartbeat, nevertheless it's excellent news for now.'

The household have wasted no time in beginning a reminiscence financial institution and the partitions of their flat are stuffed with snaps of smiling Sophia on holidays, days out and at house.

Final 12 months, she met Santa in Lapland and glamped at a music pageant along with her dad.

In just a few weeks, the teenager will have fun her sixth birthday. This 12 months, a lot of holidays are deliberate, from snowboarding in Italy to EuroDisney.

Sophia is alleged to be progressing properly for the time being and exhibiting little indicators of the sickness

Her grandparents have moved again to Scotland from Spain and Mr Scott is taking a look at reducing again on work to spend extra time together with his daughter.

'We might wrap her up in cotton wool, however what could be the purpose?' he mentioned.

'We're holding on to hope and residing for the second. If it'll be a brief life, we're decided to take advantage of it!'

The couple have arrange a charity, A whole lot of Guarantees, to fund analysis into Sophia's situation and for any particular diversifications she may have sooner or later.

Thus far, they've raised greater than £40,000. 

For extra go to fb.com/HundredsofPromises.TeamSophia.

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