Knaresborough girl's condition so rare it doesn't even have a name
Amelia Beaton has undergone hundreds of tests and operations to try and figure out what condition she has
The mum of a girl from Knaresborough who has a disease so rare it hasn't been diagnosed says that at any moment she could become so weak she can't stand.
Amelia Beaton, 13, suffers with muscle weakness, fatigue and difficulty swallowing and eating, but after undergoing countless tests and operations, doctors can't determine what condition she has.
She's known as a 'SWAN' child, which stands for syndrome or syndromes without a name. It's a term the doctors might use when a child has symptoms of a genetic disorder, but these symptoms can't be diagnosed. Children with SWAN can have a range of different symptoms including developmental delay, learning difficulties and physical disabilities.
At one minute Amelia could be running around and the next need to fully rely on her wheelchair.
It wasn't 2021 that Amelia made it through a year without having to have an operation to help deal with her undiagnosed condition.
"We have to remember the little person in front of us is a person. You're the parent left scooping up your little person at the end of it all and trying to be protective", said mum, Lisa Beaton.
"I remember when she was around the age of three, she needed to be an inpatient for a few days as she needed to have some tests done and she just looked up at me in all innocence and said 'Mummy, when will they start hurting me?' and the fact that in her three year old mind she'd already made that connection cuts me quite deeply."
When Amelia was a new born, Lisa noticed that she was 'grumpy' and seemed 'scrunched up' and 'uncomfortable' but was told by health visitors there was nothing to worry about.
It wasn't until she was taken for her nine-week check up that she realised how difficult Amelia's later life might be.
"My mind was in overdrive. I'd taken what I thought was a grumpy but healthy baby to a routine clinic appointment and the next minute we were being asked if we had a car outside to get us to the children's ward at the hospital. We got there and were met with a flurry of doctors and it was just like a whirlwind", Lisa added.
"She was being poked and prodded, picked up and assessed left, right and centre.
"As a parent you want to scoop your child up and reassure them. But the distress was because she needed to be held very still to do tests or take bloods and that is traumatic for a small child and you can't promise that it won't ever happen again.
"It's really important to us that she is Amelia, a person, first a foremost. The professionals have to do this test and that test but as she's gotten older I have started ask why or is there another way that we can do something that she might find distressing in a different approach."
For the most part, Amelia gets to live the life of any other teenage girl. She attends school, goes out with friends and finds way to adapt to any difficulties she might have by researching quirky inventions.
Lisa, said:
"Just the other day she came in to show me how she'd used an elastic band and some other bits to be able to open a bottle because that's something she struggles with. She's constantly researching ways to make things easier.
"When she's not researching that kind of stuff she's looking up Billie Eilish and how to do eyeliner like any other 13-year-old would do"
Today (28 February) is Rare Disease Day - the globally-coordinated movement on rare diseases, working towards equity in social opportunity, healthcare, and access to diagnosis and therapies for people living with a rare disease.
Since its creation in 2008, Rare Disease Day has played a critical part in building an international rare disease community that is multi-disease, global, and diverse– but united in purpose.
Rare Disease Day is observed every year on 28 February (or 29 in leap years)—the rarest day of the year.