Newport tot's rare condition means she needs injections to grow
6:01am Monday 19th May 2014 in News
A NEWPORT tot who was born with a rare condition which means that she has only one X chromosome is facing years of injections in order to grow.
Three-year-old Kara-Jay Horton, of Beechwood, was born with Turner Syndrome, a condition which affects just one in every 2,000 baby girls.
Kara-Jay was diagnosed with the condition last September after parents, full-time mum Kelly, and dad Clinton Horton, an Elvis tribute artist, became concerned that she wasn’t developing at a normal rate.
Following a trip to the doctor they discovered that Kara-Jay had the genetic condition that only affects females.
Caused by an abnormal sex chromosome, instead of having an XX chromosome, Kara-Jay has only one X chromosome, leading to problems which include reduced and delayed growth.
“Kara-Jay doesn’t have the second X chromosome and as a result she won’t grow,” mum Kelly said.
“She will have to have growth hormones injected every day for the next 15 years, and she won’t enter puberty on her own so when she enters that stage she will have to have a different set of hormone injections.
“As a result of Turner Syndrome she is infertile and she also has lots of other health problems such as duplex kidneys-which means that she has three kidneys –and glue ear which affects her hearing, which is sensitive and she doesn’t like loud noises.”
Mrs Horton, 28, is hoping to raise awareness of the condition through a family fun day event next month after only hearing of the condition when her own daughter was diagnosed.
She said: “Kara-Jay has learning difficulties and as a result has extra support in her learning as parts of her brain form differently.
“She also suffers from a lack of special awareness and her speech is delayed.”
In the next month or so the growth hormone injections will begin and her parents plan to incorporate them in to the bedtime routine on an evening when they are said to be more effective.
“We are trying to mimic the growth process,” Mrs Horton added.
“It is a really simple injection but you have to hold it in for 10 seconds- which for a three year-old is a really long time.
“Another factor is that because of her delayed development she is still in nappies and had to rely on us for that.
“She is currently seeing a community paediatrician every six to nine months and will then have to see a doctor every year for tests for the rest of her life.”
But Kara-Jay is luckier than most, her mum explained, as typically sufferers of Turner Syndrome have physical features such as a webbed neck and a low hairline, which acts as diagnosis indicators from birth - but Kara-Jay does not have these.
“As a result Kara-Jay was only diagnosed last year,” her mum added.
“So we want to try to raise awareness and fun research for Turner Syndrome as it is estimated that 10,000 girls go undiagnosed, so we want to raise awareness for them to be tested.”
Mrs Horton said that this lack of diagnosis is a result of girls having the ‘mosaic’ form of the condition whereby they are missing half an X chromosome rather than the ‘classic’ form like Kara-Jay's where she is missing a full chromosome.
“Those with mosaic may still grow normally,” she added.
Kara-Jay is currently at Osborne Nursery in Newport and hopes to join Lliswerry Primary School in the near future, as the school have promised to do everything they can to adhere to her needs.
Mrs Horton added: “But a characteristic of Turner Syndrome is the cuteness factor - she is so lovable.”
Her family will hold a family fun day on June 21 from 12pm to 4pm at the St Patrick's Social Cub, Cromwell Road, Newport, to raise awareness of Turner Syndrome and money for the only charity in the UK which helps those affected, The Turner Syndrome Support Society.
The event is open to the public and will feature live entertainment, a disco, face painting, a tombola and a raffle; with prizes including Newport County tickets. Entry is free.
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