The Melton mother of a seven-year-old boy with a rare genetic condition has talked about the challenges her family faces, ahead of a national fundraising campaign which takes place tomorrow (Friday).
Evan Clarkson has Angelman Syndrome, which used to be known as Happy Puppet Syndrome because sufferers are always smiling, clapping and making movements like puppets.
Evan, a pupil at Birch Wood School in the town, has severe epilepsy, delayed development and can’t talk or walk.
Parents Wayne and Kerry are indebted to the support they have received from the Angelman Syndrome Support Education and Research Trust, which will receive a grant from tomorrow’s Jeans for Genes Day, in aid of families of children with genetic disorders.
Kerry, who lives with her family in the Asfordby Road area of Melton, said: “Evan’s condition is incredibly isolating.
“From birth, he didn’t have the milestones other children have, such as his first walk or speaking his first word.
“He can’t walk, although he can crawl, and he has quite severe epilepsy.
“Evan has to take three daily medications twice a day and he doesn’t sleep particularly well, probably four hours on average.
“Despite all this, he is an incredibly happy and loving child.”
One in 25 children has a genetic disorder and 30,000 are diagnosed every year.
Angelman Syndrome affects the nervous system and causes severe physical and intellectual disability.
Evan was two months old when Kerry and Wayne first noticed he wasn’t developing as he should.
They feared he might be blind because he spent a lot of time just gazing and didn’t track things with his eyes. He also wouldn’t reach for anything or pick up food until he was a year old.
The only sound Evan made was when he giggled and he never attempted to sit, crawl or walk.
He was diagnosed at 14 months and his case was so unusual that the registrar and neurologist were accompanied by 10 medical students.
“It was terrifying going through all the tests with Evan,” Kerry recalled.
“We went through blood tests and MRI scans and it was just awful.
“When he was diagnosed it was a massive relief. We knew the
symptoms and we could then find ways of helping him.”
While Evan’s tests were being conducted, Kerry fell pregnant with
her second son, Logan, who is now four. Despite their initial fears he
might develop the same condition he is a healthy little boy.
Kerry praised the work of staff at Evan’s Melton school, who she says
‘go the extra mile’ with all of the children who attend.
She said: “We are incredibly lucky because some of the children Evan
goes to school with are very poorly.”
Because Angelman Syndrome has a broad spectrum of symptoms,
Evan’s parents are unsure how his life and his health will develop.
She added: “We would love to be able to communicate with him
“Evan doesn’t mimic actions, like clapping when someone else claps.
“For us it could be using a bit of tech like an iPad which will help us
communicate with him.”
The Clarksons are calling on local people to support Jeans for Genes
Day tomorrow to help support children with genetic disorders. Go
online at www.jeansforgenesday.org for a fundraising pack.