Girl, 10, is the ONLY person in the world with a genetic defect that sees her grow uncontrollably
Jessica Rushton was told she has the chromosomal abnormality, which has not yet been named, after being tested for another condition
A 10-YEAR-OLD girl is the only person in the world to be diagnosed with a genetic defect that sees her grow uncontrollably.
Jessica Rushton, from Southport, Merseyside, was told she has the chromosomal abnormality, which has not yet been named, after being tested for another condition.
Doctors discovered the youngster has Beckwith-Wiedemann syndrome, a rare overgrowth condition, which affects around 1 in 15,000 UK children.
Her mum Alison Ruston, 37, said: “Jessica doesn’t follow a rule book – there are no other cases like her in the world.
“She’s not a typical Beckwith-Wiedemann child, so it’s difficult to know what’s going to happen in the future.
“We just try to live each day and make the best of it.”
Alison, who gave up her midwife job to become a full time carer for her daughter, said she had a healthy pregnancy.
But when Jessica was born a month early, she already weighed 8lb 5oz – heavier than the 5lb average of a baby at this age.
Remarkably, Alison’s sister Vicki Cunningham, 40, had given birth the day before.
The pair even ended up in beds next to each other at Ormskirk and District General Hospital.
“Looking back, I have no doubt that we were put together as the calm before the storm,” said Alison.
“It was so surreal going through that together, but it was a really lovely time before our world completely changed.”
Within just three days, alarm bells began to ring when Jessica appeared jaundiced and struggled to feed.
Concerned, Alison and her support worker husband Mark, 42, took their daughter back to hospital – but doctors had no idea what was wrong.
For eight long months, they travelled back and forth between various medical appointments.
Alison added: “Seeing Vicki’s baby, who’d been born just before Jessica, hit all these milestones just confirmed to me that something was wrong.”
Then, the family were referred to Alder Hey Children’s Hospital in Liverpool, where the official Beckwith-Wiedemann syndrome diagnosis was made via a chromosome test.
A typical symptom of the condition is for babies to be born with their intestines outside the abdominal wall.
But Jessica didn’t have this, which Alison believes delayed the diagnosis.
Other symptoms of the overgrowth condition include one limb growing larger than the others, an enlarged tongue and an increased risk of developing kidney tumours.
But, as she also has her unique chromosome defect, Jessica is far from the average patient.
And she has scoliosis – an abnormal curvature of the spine – meaning it’s impossible to tell exactly how tall she is.
As Jessica’s tongue is so overgrown that it can block her airway, she’s had a tracheostomy to help her breathe.
Related Stories
She must also be tube fed, and is currently recovering in Alder Hey after her bowel twisted so badly a hole was torn in it.
But despite her complex medical needs, Jessica’s mum said she is a bright, positive little girl.
“She’s just incredible. Though she can’t speak, she has a way of holding a conversation through body language,” said Alison.
“People are just drawn to her. When strangers meet her, it’s lovely. Quite often I just stand back and watch.
“She makes me smile and cry happy tears daily. She’s the happiest and most determined person
I’ve ever met.”
What is Beckwith-Wiedemann syndrome?
*Beckwith-Wiedemann syndrome (BWS) is a congenital (present at birth) overgrowth syndrome that occurs in approximately one in 15,000 births
*A syndrome is a collection of features often seen together. BWS is variable – some children have a number of features of the condition, others have only one or two
*The condition is named after the two doctors who recognised and described it in the 1960s
*Common features include: increased weight or height at birth or in childhood, asymmetry of growth, large tongue size and low blood sugar
*The condition is diagnosed by a combination of assessment of clinical features and molecular testing
*The treatments and medical follow-up required depend on the clinical features of the child
*Children with BWS grow up to be healthy adults. Most do not need any specialist follow-up in adulthood
Source: Great Ormond Street Hospital
Alison is fundraising for a garden for Jessica at