‘She’s completely individual in that sense’ (Picture: Newlife Charity / SWNS)
Two-year-old Amelia Pepper was born with a condition so rare that she’s the only person in the world to have it.
The youngster has a one-of-a-kind genetic sequence, which causes vision and movement impairment.
But despite doctors warning mum Sian Lawrence, 27, her daughter would never talk, the toddler has defied the odds to speak and is now a chatty little girl – with the mum hailing the tot a ‘true miracle’.
When Sian was 20 weeks pregnant, doctors referred her to a specialist about her baby’s heart.
Sian, from Newark, Nottinghamshire, recalls: ‘When I was pregnant, we found out that Amelia had holes in her heart and got referred over to Leicester to a specialist.
‘They confirmed that she had an atrioventricular septal defect, or holes in her heart, and we got told that it’s linked to Down’s Syndrome.
‘They mentioned having further testing, but we actually didn’t want the extra testing because we said our baby is who they are, and we’ll love them no matter what.’
‘We can’t say what Amelia’s future is going to be like because she’s the only child with her genetic sequence’ (Picture: Newlife Charity / SWNS)
However, four weeks after she was born, at Kings Mill Hospital, doctors noticed the infant had a unique genetic sequence – with no existing syndrome on record to compare it to.
Mum Sian added: ‘When she was born, they noticed quite a few different characteristics, and they didn’t really fall into a specific bracket for a syndrome.
‘It came up when she was four weeks old that she’s got an unbalanced translocation [when a fetus inherits a chromosome with extra or is missing genetic material] that’s never been seen before, so geneticists have nothing to compare it to.’
Amelia’s rare condition means she must be tube-fed to avoid breathing fluid into her lungs, and her decreased muscle tone means that she cannot sit up, walk, or crawl on her own.
The two-year-old is also partially sighted and – despite doctors believing she would never speak – her vocabulary now regularly includes words like ‘mum,’ ‘dad’ and ‘hello.’
Sian said: ‘She’s a miracle to be here – because she has her own unique way she’s completely individual in that sense.
‘We can’t say what Amelia’s future is going to be like because she’s the only child with her genetic sequence.
‘She is the only one in the world with it on record.’
Amelia cannot sit up, walk, or crawl on her own (Picture: Newlife Charity / SWNS)
Sian describes her daughter as a ’happy and bubbly girl’ but says ‘she’s developmentally delayed for her age.’
‘We know she can say certain words, but certain words that she does say aren’t as clear to people that don’t know her,’ the mum-of-two adds.
‘She can’t sit up, unaided, she can’t roll and she’s unable to stand or walk.’
Amelia also has specialist equipment, such as a standing frame and a specialist chair and buggy to help with day-to-day movement.
The toddler is also currently benefiting from the Play Therapy Pod service, offered by Newlife the Charity for Disabled Children, which offers sensory toys on loan to help her learn, play and develop.
While Amelia’s future remains uncertain, and is bound to come with lots of medical hurdles, Sian hopes she’ll soon be able to bond with her three-month-old baby brother and enjoy life as much as she can.
Sian added: ‘In the next few years, we’re really looking into helping Amelia decide whether she wants to do something or not through using “yes” and “no” – whether that’s verbally or through technology.
‘We’re also looking into wheelchairs for when she’s a bit older, to give her that little bit of independence as well – that’s something that I really hope the future holds for her.’
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‘She is the only one in the world with it on record.’
