Girl, 2, is only person in world with unique condition - and she's mum's miracle
A two-year-old girl who has a condition so rare she is the only one in the world with it has been called a "true miracle " by her mum. Amelia Pepper was born with a one-of-a-kind genetic sequence which means her vision and movement is impaired.
It's left her looking towards an uncertain future. Yet despite doctors warning that she would never talk, her mum, 27-year-old Sian Lawrence, says she has defied the odds to speak and has become a "very chatty" little girl.
Sian had first been referred to a specialist at 20 weeks pregnant, as doctors were concerned about baby Amelia’s heart. They confirmed that Amelia had a hole in her heart, which is often associated with the possibility of Down's syndrome.
Amelia and Sian (Newlife Charity / SWNS)
Sian had first been referred to a specialist at 20 weeks pregnant, as doctors were concerned about baby Amelia’s heart (Newlife Charity / SWNS)However, four weeks following Amelia's birth at Kings Mill Hospital in Nottingham, doctors found a unique genetic sequence, with no existing syndrome on record to compare it to.
She has no named condition, but a translocation, which means there is an unusual arrangement of her chromosomes. Sian, of Newark, Notts., said: “She’s a miracle to be here - because she has her own unique way she’s completely individual in that sense.
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"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's condition means she has to be tube-fed to prevent her from breathing fluid into her lungs. Her reduced muscle tone means she is unable to sit up, walk, or crawl unaided.
She 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 her daughter is a ‘happy and bubbly’ girl – and is preparing to enrol her in a specialist nursery next year.
Sian added: "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 syndrome.
Amelia's condition means she has to be tube-fed to prevent her from breathing fluid into her lungs (Newlife Charity / SWNS)“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. 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 that’s never been seen before, so geneticists have nothing to compare it to. In general, she is a really happy and bubbly girl, but 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. She can't sit up, unaided, she can't roll and she's unable to stand or walk.
"She's got specialist equipment, like a standing frame and a specialist chair as well as a specialist buggy. She can say ‘mum’ and ‘dad’ and ‘hello’ or ‘hi’ really clearly – and she repeats ‘oh no’ when I say it.
"Her favourite time is when she’s in her sensory room, which was fundraised through family and friends, and she loves being in there.” Sian hopes that Amelia will be able to bond with her three-month old brother in the future as well – and is eager to see what the future holds for her family.
Amelia Pepper was born with the one-of-a-kind genetic sequence which causes vision and movement impairment and has left her facing an uncertain future (Newlife Charity / SWNS)She added: “In the future, we know there are going to be a lot more hurdles medically, but we just hope that she’s enjoying life as much as she can. 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.
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“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.”
Amelia has also been benefiting from the Play Therapy Pod service offered by Newlife the Charity for Disabled Children. Sian added: "The sensory toys on loan from Newlife are great additions to the room and really help her development - it’s lovely to see her interact, play, and learn.
"It came at a time when Amelia was in and out of hospital and unfortunately Amelia’s first Christmas was in hospital. It was just so magical and she’s doing so well."
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