Shoelaces reveal father’s condition

For 40 years unbeknown to him butcher Ian Redfern was suffering from a rare condition.

It was only when his three-year-old daughter Evie was getting treatment for the condition that a keen-eyed specialist spotted the signs.

Ian visited The Children’s Hospital, Sheffield with daughter Evie, now six, who has Classical Ehlers-Danlos Syndrome (EDS) causing her to bruise and damage her skin very easily.

He had shown no sign he might carry the hereditary genetic condition until Evie’s doctor spotted him tying his shoelaces with his wrists bent at an unusual angle.

Ian, a butcher from Ecclesfield in Sheffield, said: “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.”

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 Classical EDS symptoms which Evie has, the disease also commonly causes hyper-mobility, where joint and ligaments are lax.

Dr Glenda 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.”

Both Ian and Evie have the same gene change which causes EDS, but there is no explanation as to why Evie is worse affected.

“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,” added Dr Sobey.

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 about 200 new patients every year.

“Because the condition is so rare and families have to travel to Sheffield for treatment we have specialised genetic counsellors on our team who are available for our patients to speak to on the telephone,” added Dr Sobey.

“We make sure that all the local GPs and hospitals are aware of all our patients’ conditions in case they are ever admitted or have any related health problems.

“We also advise schools to make sure our patients’ education is not affected. Because Classical EDS patients are hyper-mobile they struggle to write with pens as their fingers bend back, so we provide specially designed pens they can use which are very helpful.”

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.

Ian added: “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.”

For more information on Ehlers-Danlos Syndrome Service at Sheffield Children’s NHS Foundation Trust including the referral guidelines visit www.sheffieldchildrens.nhs.uk.

Syndrome hits collagen

Ehlers-Danlos Syndrome (EDS) is a group of inherited conditions that affect collagen proteins in the body. Typical features are stretchy skin, loose joints and fragile body tissues.

Collagen is a building block that strengthens and supports various body tissues. It is found in tendons, ligaments, cartilage, skin, bone, blood vessels, the gut and the spine.

EDS is caused by alterations in certain genes, which make collagen weaker. Sometimes the amount of collagen in the body is reduced. The 
faulty genes can be passed from parents to their children.

EDS affects at least one person in 5,000 in the UK, although research is showing that this may be an underestimate. Most people with EDS are able to live a fairly normal life.

There are various forms of EDS.