When Charlie Howram was diagnosed with a severe form of hypermobility, his family all realised they had it too, writes health reporter Kate Liptrot.

EVEN getting dressed in the morning can cause Charlie Howram's joints to dislocate.

The eight-year-old from Selby has Ehlers Danlos Syndrome (EDS) - a genetic mutation which adversely affects collagen in the body and can mean his joints can regularly dislocate or pop out of their sockets.

"It can be anything from pulling on his trousers or he can just be walking and his ankle will go, or his hip," his mum Melanie said, "This morning he pushed himself back on the couch and his wrist went - it's literally anything.

"Sometimes Charlie can pop his own joints back in . We try and laugh it off and say 'oh that was a good one'.

"The gene that causes it has not been identified. There's no cure, treatment is self management."

It was not until Charlie was diagnosed with the condition at the age of four that his family - Melanie, 37, dad Mark, 41, and siblings Lucy, 18, and Jacob, 15- realised they also had the same condition.

However, Charlie's condition seems to be the most severe and to make matters worse, he also has chronic pain amplification syndrome - where pain is heightened and even pain killers intended for adults sometimes don't lessen his suffering.

The pain and exhaustion he suffers leads Charlie to have meltdowns, sometimes physically but often verbally, and later suffers a heavy remorse. But with help of a child psychologist Charlie has been learning to self-manage his condition.

"At the moment because he is on so much medication, it can mask problems," Melanie said, "You don't realise until the pain killers wear off.

"He is such a lovely happy little boy. But children don't understand the pain they are feeling. They don't know how to rationalise the pain they are dealing with "We have had times when he is in that much pain he can't stay still. It's tricky to deal with when you have given all the pain relief and all you are left with is being able to massage, talk and reassure."

As a child, some warning signs were there but they hadn't realised, Melanie said. Charlie would bruise easily and once, to her horror, suffered a black eye when he dropped a small object on his face while playing.

But it wasn't until the age of four that he was diagnosed, after his ankles appeared to be collapsing when he was on the beach in Whitby.

He was referred by his GP to an orthotist who told them Charlie was suffering from hypermobility syndrome.

"Looking back now it all makes sense," Melanie said, "Charlie was slow to learn to walk and didn't until he was about 18-months-old. Six months later he was waking in pain and not able to walk that far."

For Melanie as well, things also started to make more sense as she has had various complex health problems, including chronic fatigue, which meant she had to stop working at 26, and she now knows are linked to the condition.

"Some people say we are like Rice Crispies," she jokes about severe hypermobility, " Because when you move about you can get a snap, a crackle and pop."

Charlie has had innumerable doctors appointments at hospitals across Yorkshire and their geneticist in Sheffield said they are the only family they have come across where both parents carry the genetic mutation.

Through the Hypermobility Syndrome Association, a benefitting charity of Jeans for Genes, the family have received vital support and through their master-classes are given advice on various ways to manage the pain and fatigue on a day-to-day basis.

As Charlie suffers from chronic fatigue he struggled to cope with primary school and is now taught at home.

But Melanie said that by the same token, they realised they cannot wrap their son in cotton wool, recalling that Charlie recently went to a skate park with his brother and she spent the whole time silently hoping that he would not fall.

"We have to teach Charlie he is not going to get better," Melanie said as so little is known about the genetic condition.

"I hope scientists can identify what is going on. But what I hope for Charlie is that he is happy. That's all you can want for your children."


Factfile

  • One in every 25 children are born with a genetic disorder - that amounts to more than 30,000 children born each year.
  • Their associated health problems mean that genetic disorders are the biggest cause of death of children aged 14 years and under.
  • Jeans for Genes raises money for Genetic Disorders UK and aims to change the world for children with genetic disorders.
  • Jeans for Genes day is this Friday.
  • To sign up for your free fundraising pack, go to www.jeansforgenes.org