Four years on and still no diagnosis for Wigan tot with chronic pain
A Wigan tot was born with a genetic condition so rare that, at the age of four, she has never been officially diagnosed,
Evana Parkinson, from Ince, has been suffering with the chromosome disorder only known as “microdeletion 15Q11.2” since birth.
A middle child of three siblings, little Evana has shown delayed development and is still unable to run, jump or roll like other children her age.
She also suffers from chronic pain in her legs and is often confined to a specially adapted buggy.
Her parents, Scott and Kayley Parkinson, are hoping that by raising awareness on “Undiagnosed Children’s Day”, they can fight for the inclusion of their daughter and other children like her across the UK who are suffering from nameless conditions.
Kayley, 25, said: “We knew something was wrong when she didn’t reach any of her milestones as a baby.
“We realised when she was about 18 months old, she wasn’t putting any weight on her legs at all.
“She didn’t even try to put weight on her legs.”
“We took her to the paediatrician who did blood tests, xrays and examinations which came back clear and her vitamin and iron levels were fine.
“Then we were sent for a round of genetic tests.”
Around eight weeks later, the Scott and Kayley were told that Evana has a rare genetic condition.
Although Kayley also has the same deletion, she – like many others – suffers no symptoms.
So severe is Evana’s condition that she can be in agony for hours after just a two minute walk.
She also has delayed speech and understanding.
The family is getting behind “undiagnosed children’s day”, an initiative by Swan UK (syndromes without a name), in an attempt to raise understanding of families in the same boat as them.
“If we had an official diagnosis then people might know more about her condition,” said dad Scott.
“At the moment we know nothing about what the effects could be later on.”
The couple, who have two other children, Erica, five, and Ellery, two, are hoping to give something back to children’s charity Blessings in disguise who have helped to bring joy into Evana’s life despite her constant struggle.
Scott and Kayley, who own a gaming business shinlarltd.co.uk, have taken part in a range of charity walks and runs and held raffles to raise more than £4,000 for the charity which provides special needs equipment and puts on activities for children and families.
Next week, the pair will hold a raffle at the Vapouround Awards in Birmingham to help boost their donations.
To donate visit https://www.totalgiving.co.uk/mypage/evanafaith