‘Little Summer won’t walk or talk unless we find a cure soon’
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TWO-year-old Summer Stokley is not going to walk or talk.
She doesn’t have brain damage but she is missing a protein that should make her brain function properly.
The condition, known as Rett syndrome, kicked in early. She stopped developing at six months and has never stood up, walked or fed herself.
If she makes it to adulthood she will require full-time care unless a cure is found.
That’s the message her grandmother, 59-year-old Sylvia Reilly, from Reay, has been telling everyone that will listen over the past few weeks.
She has been passing the message on as her two sons raced from Land’s End to John O’Groats to raise money for a cure.
“She’s a beautiful little girl and we just really want this cure,” said Sylvia.
“We’re sure it’s just round the corner.
“We are finally getting the message across in the far north now because I’ve spoken to so many people.”
Last week Summer made the trip to the far north to meet her dad James (32) and uncle Ross (20) on their way into John O’Groats as they finished their marathon two-week cycle to raise money for Rett Syndrome Research Trust UK.
She even got to go on the back of her dad’s bike for the last two miles.
“She loves being out in the fresh air,” explained Sylvia.
“She is nearly three but she just can’t walk or communicate.
“She wants to do all the things a three-year-old does but she can’t.
Sylvia explained that her boys raised £4330 for the charity, which is looking for a cure for the devastating childhood neurological disorder.
Summer, who turns three next month, was diagnosed just a week after her second birthday.
The condition is caused by a faulty gene and strikes seemingly healthy girls aged between six and 36 months and takes away their speech, hand use and normal movement.
Unless a cure is found, Summer will never be self-sufficient and will be wheelchair-bound and dependent on others for every aspect of her life.
But there is hope on the horizon as it has already been reversed in laboratory conditions and it is hoped a solution is just a few pound signs away.
This inspired her dad – a carpenter by trade – and uncle, a psychology student, to take on the end-to-end challenge despite having little to no cycling experience, having only bought their bikes in May.
“They got better as the days went on,” said Sylvia.
“The first week as they travelled through England they had all sorts of injuries and minor problems.
“But the last week they seemed to gather strength and seeing the goal at the end definitely helped.”
She added: “They did really well, I’m a very proud mum.”
Summer was introduced to patrons of the Halladale Inn last week, where Sylvia works part-time.
She praised the support that has been given across the county.
Rett Syndrome Research Trust UK executive director Rachael Bloom set up the charity alongside other concerned families in July 2010.
She explained the condition was reversed in a lab in 2007.
“Prior to that there wasn’t much hope for girls with Rett syndrome, you were just given the bad news and off you went,” she said.
“When we learned it was potentially reversible we decided we wanted to do something to impact the speed in which those research developments could be developed into treatments, so we founded Rett Syndrome Research Trust UK.
“It is essentially made up of lots of families who aggressively fundraise in the name of their child or grandchild, like James and Ross.”
Rachael’s own daughter Amber suffers from the condition and is now aged 16.
She explained that as the girls get older more complications arise.
“You are looking after someone who can do nothing for themselves,” she said.
“These girls have so much to contend with and taking care of them is an immense and laborious job but, most importantly, they aren’t able to enjoy so many of the things that other girls take for granted.”
Recent research suggests bone marrow transplants arrest symptoms in mice and it is hoped this can be developed with the funds raised into clinical trials.
The charity has now raised in excess of £750,000 and has won two charity awards including JustGiving’s best new charity in 2012.
Donations can still be made to James and Ross’s JustGiving page at www.justgiving.com/Ross-Stokley
More information on the charity can be found at www.reverserett.org.uk
