Father who lived with rare disease for 40 years finally diagnosed after doctor sees him tie his shoelaces
Ian took his daughter, who has Ehlers Danlos Syndrome, to a hospital appointment
Hereditary condition can cause bruising and lax joints that bend too far
Usually if child has it, both parents are unaffected carriers of the faulty gene But doctor realised Ian had the condition after seeing him tie his shoelaces
Daily Mail Reporter
16:34 GMT, 23 January 2013
17:41 GMT, 23 January 2013
A father who lived with a rare disease for more than 40 years without realising was finally diagnosed after a doctor saw him tie his shoelaces.
Butcher Ian Redfern was with his daughter Evie, aged six, at The Children’s Hospital, Sheffield, for treatment for her condition Ehlers Danlos Syndrome (EDS).
Evie was diagnosed with EDS when she was three-years-old – which causes her to bruise and damage her skin easily.
Ian Redfern with the shoes that meant he was diagnosed with the same condition as his daughter Evie. Pictured with his partner Nicola Clay
Mr Redfern, 45, was with his daughter for this trip to the hospital when her doctor noticed something unusual about the way he bent over to do his laces – and realised he was suffering from the same condition.
Ian had never shown any sign he might carry the hereditary genetic condition until Evie’s doctor, Glenda Sobey, spotted him bending his wrists at an odd angle.
Now Ian is hoping highlight the condition after revealing how he was diagnosed for first time.
Ian, from Sheffield, said: 'I don’t know what the doctor saw, she just realised I had the same condition as Evie.
'In my life EDS hasn’t been a problem as I didn’t even know I had it, but that’s the thing with the condition it effects different people different ways, there could be lots of people who don’t know they have it.
'We were so relieved when Evie was diagnosed as we knew there was something wrong with her, it was so strange to see the way her skin broke when she was bumped.
'I never expected the doctor to say I had the condition too, I had no clue, it was just so strange especially because Evie’s symptoms were so severe.
'We just see EDS as normal life now where we have to take extra precautions. Although I can’t help but feel responsible for Evie having the condition, in a way it’s nice that we can share it and I can support her through it.'
Ian with his daughter and Dr Sobey who diagnosed him after she noticed his wrists were bent at an odd angle
There are several types of EDS which affect just one in 5,000 people. It is a genetic connective tissue condition caused by a defect in the protein collagen, the main building block of the body which provides strength and support.
As well as the classic EDS symptoms which Evie has, the disease also commonly causes hyper-mobility, where joint and ligaments are lax.
Dr Sobey, lead clinician for EDS at Sheffield Children’s NHS Foundation Trust, spotted Ian tying his shoelaces, noticing his hyper mobility and ran tests.
She said: 'It is so rare for someone to live with Classical EDS and not know, the condition is usually diagnosed in early childhood.
'Because the condition is hereditary we always test parents to see if they carry the gene, but I have never seen a case like this before where a parent had Classical EDS but didn’t know.
'There is no cure for EDS but lots of preventions which we put in place. Evie wears special tights to school to protect her legs and because the condition can cause various problems Ian now has annual heart checks.'
Dr Sobey and her team of seven run the Sheffield EDS National Diagnostic Service and see patients from across the north of England and Scotland.
The team recently ran an EDS awareness day where Evie and Ian met other EDS patients, had specialist assessments and group education sessions.
Evie said: 'I really enjoyed the day because I got to meet other children with EDS. Where I live it’s only me and dad so it has been good to see other children like me.'
The national EDS service at The Children’s Hospital, Sheffield was set up in 2009 and is asked to see around 200 new patients every year.
The centre is the only place in the country with labs where the faulty EDS gene can be detected. Before the service in Sheffield began, samples had to be sent to labs in parts of Europe and America.
For more information about the service visit www.sheffieldchildrens.nhs.uk