A grandfather is trying to raise awareness of a littleknown genetic disorder which badly affects the health of four family members. He talks to Flossie Mainwaring-Taylor

THERE are, as Alan Thompson rightly points out, countless coffee mornings for the likes of the Alzheimer's Society, the British Heart Foundation and the numerous cancer charities out there.

And while of course none are less deserving than the other, grandfather-of-four Alan can't help being frustrated not only by the absence of fundraising get-togethers for Ehlers-Danlos syndrome - but the fact you probably haven't even heard of it.

Ehlers-Danlos syndrome, or EDS for short, affects not one but five female members of Mr Thompson's family.

The Northern Echo: Laura Bashford, 21, who suffers from a debilitating condition, is raising funds for a powered wheelchair which will give her independence. Picture: CHRIS BOOTH
Laura Bashford, 21, is one of four grandchildren of Alan Thompson, above, to suffer from Ehlers-Danlos syndrome

And now the 73-year-old, of Middleton-in-Teesdale, County Durham, is at such a loss at the lack of understanding surrounding EDS - in both the medical profession and among the public - that he wants to raise awareness the potentially life-threatening condition.

"I don't know a great deal about it but it's come to the fore because of the family," he says. "I don't think it's that rare and and I'd like people to see this and realise if they are suffering that it might be EDS."

EDS is a genetic disorder in which the structure of connective tissue is abnormal due to gene mutation.

This results in abnormally fragile and hyper-extensible tissues through the body which can lead to a range of symptoms.

The effect on the body is widespread and not limited to one body system.

There are different types of the condition and a vast spectrum of symptoms are experienced by individuals.

Many people with it lead full and active lives, but EDS can lead to physical disability and some rarer types can be life limiting.

Although Mr Thompson and his wife Margaret do not suffer from EDS themselves, one of their daughters and four of their grandchildren have been diagnosed with it.

In recent years it is his granddaughter Laura Bashford, of Sedgefield, who has been most seriously affected.

The 21-year-old is often left bed-bound and essentially paralysed due to her locking joints.

At the age of 18 after suffering from increased pain and gastric symptoms, doctors were forced to insert a tube into her abdomen through which she is now fed.

The condition has also had an impact on Mr Thompson's daughter Naomi Thompson, 35, and her ten-year-old daughter Faith, both of Eaglescliffe, near Yarm.

While Naomi struggles with pain in her back, Faith is now registered as disabled because of the condition.

"At the moment it's affecting her back, hands, elbows and shoulders," says Mr Thompson. "She's been advised to do exercise but can't do contact sport and has difficulty writing as she can't hold a pen properly.

"Some days she has difficulty getting out of bed or tying her shoe laces then two hours later she's back to normal."

The lack of understanding, Mr Thompson says, is also causing difficulty with her school as she is unable to attend following a night awake in pain.

Fee Edden, of Newton Aycliffe, is an EDS sufferer herself and is the area coordinator for the charity EDS UK (Ehlers-danlos Support) which provides support, raises awareness and strives to build a fighting EDS community to "make our invisible visible".

She was diagnosed by a rheumatologist and geneticists in 2010 and all three of her children have inherited the condition.

The 44-year-old runs the Teesside support group covering most of the North-East including Durham and Cleveland, extending into North Yorkshire.

Like Mr Thompson, she believes raising awareness could drive research forward and help those in need.

"There is a lack of knowledge about EDS in the medical profession and it is therefore often misdiagnosed or overlooked," she said. "If the profile is raised and more medical professionals become aware, more individuals can receive the appropriate support and management to cope with their condition."

EDS hypermobility type used to affect about one in 5,000 individuals but this has now changed and it is in fact much more common than previously thought.

Rarer types can affect between one in 20,000 or one in 250,000.

Fee says: "As more knowledge of EDS is spread within the medical profession more individuals are being diagnosed with EDS hypermobility type."

For more information and to join a support group visit www.ehlers-danlos.org