My daughter is the only person in the world with her condition – we were told she would never speak but she has defied the odds
A two-year-old girl with a condition so rare she is the only person in the world to have it has been praised by her mother as a 'true miracle'.
Amelia Pepper, from Newark, Nottinghamshire, was born with the unique genetic sequence that causes vision and movement disorders and has left her with an uncertain future.
But despite doctors warning mum Sian Lawrence, 27, that her daughter would never talk, she has defied the odds to speak and is now a 'very talkative' little girl.
Sian was first referred to a specialist when she was 20 weeks pregnant because doctors were concerned about baby Amelia's heart.
It was confirmed that Amelia had a hole in her heart, which is often linked to the possibility of Down syndrome.
Amelia Pepper, from Newark, Nottinghamshire, (left) has a condition so rare she is the only person in the world to have it. She is praised as a 'real miracle' by her mother Sian Lawrence, 27 (right)
But four weeks after Amelia's birth at Kings Mill Hospital, doctors noticed a unique genetic sequence – with no known existing syndrome to compare it to.
She does not have a listed condition, but has a translocation – meaning there is an unusual arrangement of her chromosomes.
Sian said: 'It's a miracle she's here – because she has her own unique way, she's completely individual in that sense.
'We cannot say what Amelia's future will look like because she is the only child with her genetic sequence.
“She's the only one in the world who recorded this.”
Amelia's condition means she needs to be tube-fed to prevent fluid from entering her lungs, and her reduced muscle tone means she cannot sit, walk or crawl on her own.
She is also visually impaired and despite doctors thinking she would never be able to speak, her vocabulary now regularly includes words like 'mom', 'dad' and 'hello'.
Sian said her daughter is a 'happy and bubbly' girl – and is preparing to enroll her in a specialist nursery next year.
Amelia was born with the unique genetic sequence that causes vision and movement disorders and has left her with an uncertain future
Amelia's condition means she needs to be tube fed to prevent fluid being inhaled into her lungs, and her reduced muscle tone means she cannot sit, walk or crawl on her own.
Sian added: 'When I was pregnant we found out Amelia had holes in her heart and were referred to a specialist in Leicester.
'They confirmed she had an atrioventricular septal defect, or holes in her heart, and we were told this was linked to Down syndrome.
“They said we needed to test further, but we didn't really want the extra testing because we said our baby is who they are, and we're going to love them no matter what.
'When she was born, they noticed quite a few different features, and they didn't really fit into any specific category as a syndrome.
'When she was four weeks old it was revealed that she has a translocation imbalance that has never been seen before, so geneticists have nothing to compare it to.
'Overall she is a very happy and cheerful girl, but she has developmental delays for her age.
Doctors warned mum Sian that her daughter would never talk, but she has defied the odds to talk and is now a 'very talkative' little girl
“We know she can say certain words, but certain words she says are not so clear to people who don't know her.
“She can't sit up unaided, she can't roll, and she can't stand or walk.”
'She has specialist equipment, such as a standing frame and a special chair, and a special buggy.
'She can say 'mom' and 'dad' and 'hello' or 'hello' very clearly – and she repeats 'oh no' when I say it.
'Her favorite time is when she is in her sensory room, which was raised through family and friends, and she loves being there.'
Sian hopes Amelia will also be able to bond with her three-month-old brother in the future – and is excited to see what the future holds for her family.
She added: 'We know there will be many more hurdles medically in the future, but we just hope she enjoys life as much as possible.
'Over the next few years we'll really explore whether we can help Amelia decide whether she wants to do something or not, using 'yes' and 'no' – whether that's verbally or through technology.
Amelia has also benefited from the Play Therapy Pod service provided by disabled children's charity Newlife
'We're also looking into wheelchairs for when she's a little older, to give her that bit of independence too – that's something I really hope the future holds for her.'
Amelia has also benefited from the Play Therapy Pod service offered by disabled children's charity Newlife.
Sian added: 'The sensory toys Newlife borrows are a great addition to the room and really help her development – it's wonderful to see her interacting, playing and learning.
'It came at a time when Amelia was in and out of hospital and unfortunately it was Amelia's first Christmas in hospital.
“It was just so magical and she's doing so well.”