By Rebecca Drew
MEET the British family who must adapt their daily lives to cope with the rare genetic condition that sees faulty collagen fill their joints to cause painful swelling and dislocation.
Mum of three, Gemma Coles-Hassan (34) from Milton Keynes, Buckinghamshire was diagnosed with Ehlers-Danlos syndrome (EDS) at the age of 11 after nine years of misdiagnosis which left her four months away from being wheelchair bound for life as the condition left her body “completely knackered”.
When pregnant, Gemma and her husband Danny were told that there was a fifty percent chance that their baby would have EDS, this can only be determined through genetic tests after birth. Their three children Aydan (10), Theo (7) and Maddison (5) all suffer from the condition differently but have learnt to make the best of their situation.
EDS is a group of disorders that affect the connective tissues, that support the skin, bones, blood vessels, many organs and tissues, making joints too stretchy which leads to painful dislocations and weakness. It is more common in females than males.
“Well I’ve not found anyone with as many cases as ours, my mum has got it, my sister has got it and myself, we’ve got two brothers who haven’t got it because predominantly it goes through the girls of our family,” said Gemma.
“Very rarely you find boys with EDS which is quite strange.
“When I fell pregnant, I was given a fifty-fifty chance that I would have a child with EDS due to the family history.
“It came out to be a boy and there was genetic testing and they said yes he has EDS, on the second one we were given a fifty-fifty chance again and it was a boy and it had continued into him as well.
“When we fell with the third, they said no matter what it is you’ve got two who have it so it would be really rare to have a child without it.”
EDS affects the children differently with symptoms including, painful joint dislocations and swelling, visual impairment and fatigue. They have adapted lessons at school and do physiotherapy sessions daily to try to stabilise the joints.
The children visit consultants every two months and an optometrist every four months.
Gemma says that a positive mental attitude is key to coping with EDS and makes sure that she instils this in her children.
“It’s not as shortcut as you’ve been diagnosed with EDS as it links into a lot of other things,” explained Gemma.
“We found that my son, Aydan has speech and language issues and was mute from birth and couldn’t speak until he was four and that’s all to do with the tongue and how the sounds are transferred over the tongue and its control as the tongue is a muscle.
“He has urology problems as it’s a muscle and doesn’t close properly, bowel problems as that’s another muscle.
“They have vision issues due to weakness in controlling the movements of eye because it’s all linked.
“It’s stopped them being normal children, but like me, they’ve known no different. Maddison’s PE lessons are tailored, she doesn’t do a full lesson like her peers but she understands the reasons why it’s all about pacing and tailoring to the child.
“The other children understand as well, you’ve just got to tell them what’s wrong, we try to keep them as normal as we can.
“It’s a condition that they have for life so they have to deal with it, we try to keep positive but obviously, it is a negative condition but my philosophy on it is that you have to keep control of it because if you don’t, it will beat you.
“We hit it head on and take the bull by the horns but we could all be in a very dark place if not.”
The family use special tape to lift the skin away from the muscles and hold joints in place, reducing the chances of dislocations and swelling. They also have lots of adaption fitted into the home to make things easier.
“My house is full of adaption, we have a full wet room, electric beds so hubby can get me in and out of bed and do the taping,” she said.
“The kids all have steps up into their beds, stair lifts and different cutlery and aids around the house.”
For Gemma, the hardest thing to cope with is the fact that she has passed EDS on to her kids but hopes that they will have the same positive attitude as her.
“The actual condition doesn’t bother me, knowing that I’ve passed it on is really hard,” she said.
“It’s been really hard, seeing the children upset and swelling and dislocating, those bits are the hard bits.
“There’s nothing you can do apart from not having children.
“I’m hoping that they are going to have the same mind as I’ve got, we have to deal with it the best we can,
“It’s about determination I think, it won’t beat us put it that way, it makes things hard but it won’t beat us.
“Some days you feel there is no end to the hard times then you have a good day and see the smiles on your children faces and their determination and positive attitude give you more fight.
“My message to others is to just keep strong, fight and not let it beat you.”