Coast-to-coast fundraiser after Leeds family’s 17-year wait for ultra-rare diagnosis

Caroline Turpin with her daughter Laura May Harrison. Picture by Tony Johnson.
Caroline Turpin with her daughter Laura May Harrison. Picture by Tony Johnson.
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The family of a disabled Leeds woman, who had to wait 17 years for her rare genetic disorder to be diagnosed, is raising awareness of the condition.

Laura May Harrison, from Old Farnley, is one of only around 50 people in the UK to be diagnosed with CDKL5 – a rare genetic condition that results in seizures and severe developmental issues.

Laura May Harrison, who has CDKL5, with her mum Caroline Turpin, brother Nathaniel, uncle Michael Dinmore and friend Sean Carolan. Picture by Tony Johnson.

Laura May Harrison, who has CDKL5, with her mum Caroline Turpin, brother Nathaniel, uncle Michael Dinmore and friend Sean Carolan. Picture by Tony Johnson.

The 23-year-old is fed through a tube, is blind and has limited mobility, relying on her brother Nathaniel and mum Caroline for 24-hour support.

Her uncle, brother and a family friend will walk 170 miles from Morecambe to Bridlington from Sunday to raise funds and awareness of the condition.

Caroline Turpin, Laura May’s mum, first noticed issues with her daughter’s eyes when she was three months old and it was suggested that she may have cerebral palsy or Rett syndrome. Scientists only identified CDKL5 in 2004 and Laura May was diagnosed in 2009.

Caroline, 41, told the YEP: “I read up on everything and when we got this diagnosis and found the support group there was just a lot of relief.

Laura May Harrison. Picture by Tony Johnson.

Laura May Harrison. Picture by Tony Johnson.

“I just want to carry on with her and make the most of her.”

Laura May has a mutation of the CDKL5 gene, which provides instructions for making a protein that is essential for normal brain development.

Nathaniel, 20, said: “We just get on with it, I try to help where I can ­– it’s just normal and it’s just life.”

There is little known about the condition but UK research is being supported by the CDKL5 UK charity. Nathaniel, Laura May’s uncle Michael Dinmore and family friend Sean Carolan’s trek is hoped to raise £1,000 for the cause. Michael said: “It’s raising awareness that’s the main thing. The dreadful bit is a lot of people when they see what the fundraising is for will not have a clue what it is. We want to there to be as much research as possible.”

Visit www.justgiving.com/michael-dinmore to donate.

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