'My little girl used to be able to pick up her toys, then all of a sudden she couldn't'

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Lily Sloan's parents first noticed their little girl was unwell when she suddenly stopped being able to reach for her toys and began 'constantly grinding her teeth'.

After two months of 'regression' her worried parents, Scott Sloan, 31, and Amanda Lorimer, 33, took her to the hospital for tests.

Following a genetic blood test in December 2023 the couple were given the devastating news that Lily had a genetic disorder that causes severe physical and mental disability.

At just 14 months old Lily had been diagnosed with Rett syndrome, a rare condition which affects just one in every 10,000 children.

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Lily is also at risk of significant complications as she gets older - including seizures, anxiety and breathing problems. Neither parent carries the gene and it's been described as a "random occurrence."

Scott and Amanda say they are now "grieving all the firsts and experiences she'll potentially never have" and are devastated they will never see their little girl speak her first words and take her first steps - as well as getting married, getting a job and having kids of her own.

Amanda, a mental health nurse, said: "Nothing can really prepare you for your 14-month-old being diagnosed with an incurable condition. It's all about managing the condition as best we can, now.

"Lily gets a great level of support - she sees different therapists, and we try to help her the best we can at home. But you can't help but grieve the little things - like her not being able to say her first words."

Amanda hadn't experienced any problems throughout her pregnancy with Lily, who was a "healthy baby" in her first six months.

"Nothing was picked up at all," she said. "I didn't have any symptoms during pregnancy or after - the birth was quick and straight forward.

"By six months, she was sitting up, and she'd try to roll over a wee bit. She was meeting everything in her baby milestone book - babbling, playing with her toys, weaning.

"She was engaged, she'd respond to you, she'd laugh and smile at a lot of things."

Rett syndrome typically doesn't begin to present symptoms until the patient is between one and two years old - and Lily started having issues at 14 months.

At the beginning of October 2023, the couple noticed she started to struggle with her fine motor skills, like using her hands to pick up her toys. Scott says her gross motor skills were also delayed - she wouldn't attempt to crawl.

Within weeks, she started having difficulties with her gross motor skills - affecting her whole arm, rather than just her fingers. She could no longer reach out for her toys - and she began to choke on food.

Scott, a careers advisor, said: "She used to be able to pick up her toys in front of her - but then she stopped being able to reach for them.

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"Lily used to have a real pincer grip, then she could no longer reach her mouth. She was just regressing.

"Over the course of a few weeks the ability to use her hands just fizzled out. She was also grinding her teeth all the time."

Scott and Amanda began researching Lily's symptoms and quickly found out about Rett syndrome from charity websites like Reverse Rett. On November 1, Lily underwent three weeks of hospital tests, including bloods, an MRI and an EEG.

Other more common conditions were individually ruled out, and on December 28, the couple got the "devastating" diagnosis.

Within a month, Scott and Amanda had to go for genetic testing to find out if they were carriers - but they both came back negative.

Amanda said: "It's basically a completely random gene mutation, nothing hereditary at all. It tends to affect girls more than boys - as the mutation is on the X chromosome."

Scott added: "Amanda had heard of Rett while doing her research - it didn't make anything easier. You just save yourself the complete blow when you find out the diagnosis."

Over the last five months, Lily has been going through a number of different treatments - although Scott says she's too young to undergo any drug trials.

She has an occupational therapist to help her hand use, a speech and language therapist for her communication skills and her ability to swallow, and a key worker from a child development centre co-ordinating her care and a physiotherapist helping with her overall mobility.

It is unlikely Lily will ever be able to talk - but she communicates using eye-pointing. Scott says the couple are "hopeful" for her future - and are trying to give her the best start in life.

"She's still the same, happy little girl as ever," he added. "It's all about trying to stay proactive to keep her as healthy as possible.

"There are things we do at home to maintain Lily's core strength. We make sure she has plenty of floor time, letting her be free to move and stretch as she wishes.

"She was referred to hydrotherapy by physio, so we take her swimming, once a week. We've got equipment from the physio - exercise balls and benches to help her sit, stand and kneel.

"She's got an extremely strong core, and does an unbelievable amount of, essentially, sit ups per day."

With a number of companies investing into medical trials for Rett syndrome, the couple are optimistic an effective treatment can be found. Amanda, from Fife, said: "Our goal is to keep Lily as healthy as possible, until we can get some sort of cure."

The couple refused to accept Lily's future as "set in stone" - and are optimistic further treatment can be found.

Scott is walking a continuous 100km across the Lake District to raise money for Reverse Rett, to donate visit here.

He said: "Reverse Rett has been a great help to us. Change is on the horizon, clinical trials for Rett treatment have been approved in the UK - and there are things that can be done for patients."

Pascale Harvie, President and General Manager of JustGiving says: "Hearing Lily's story is truly heartbreaking - it's impossible to imagine what Scott and his family must be going through following an incredibly difficult six months."

"Despite everything, Scott has found the strength to take part in the Lake District Ultra Challenge to help raise money for a worthy cause, close to his heart."

"From everyone at JustGiving, we wish Scott good luck and we hope he continues to exceed his fundraising goal for Reverse Rett."