NOTTINGHAM, United Kingdom — A two-year-old girl with a condition so rare she is the only person in the world to have it is being hailed as a “true miracle” by her mother. Amelia Pepper was born with a one-of-a-kind genetic sequence that causes vision and movement impairment, leaving her facing an uncertain future.
Despite doctors warning Amelia’s mom, 27-year-old Sian Lawrence, that she would never talk, Amelia has defied the odds to speak and is now a “very chatty” little girl. Sian was referred to a specialist 20 weeks into her pregnancy, 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 possible development of Down syndrome.
However, four weeks after Amelia’s birth, doctors noticed a unique genetic sequence – with no existing syndrome on record to compare it to. She does not have a named condition but has a translocation – meaning there is an unusual arrangement of her chromosomes.
“She’s a miracle to be here – because she has her own unique way she’s completely individual in that sense,” Sian says in an online video post.
“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 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. She is also partially blind and despite doctors believing she would never speak, her vocabulary now regularly includes words like “mum,” “dad,” and “hello.”
Sian says her daughter is a “happy and bubbly” girl – and is preparing to enroll her in a specialist nursery next year.
“When I was pregnant, we found out that Amelia had holes in her heart and got referred over to Leicester to a specialist,” Amelia’s mother continues. “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. 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,” Sian says.
“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’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 favorite time is when she’s in her sensory room, which was fundraised through family and friends, and she loves being in there.”
Sian says she 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.
“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,” the young mother adds in her video.
“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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South West News Service writer Elizabeth Hunter contributed to this report.
