How Charlie copes with severe form of debilitating condition

Charlie Howram just wants to be normal. But his mum Melanie tells him normal is boring to help him cope with being different.

Charlie, eight, suffers from Ehlers Danlos Syndrome (EDS) – a genetic mutation which adversely affects collagen in the body. An absence of normal collagen around his joints means they regularly dislocate – even pulling on his socks can cause a dislocated finger.

To make matters worse Charlie has chronic pain amplification syndrome – where even mild pain is ratcheted up to severe. It often means that he is in excruciating pain and even pain killers meant for adults do not help his suffering.

It was only when Charlie was diagnosed at four years old, that his entire family realised they were suffering from a milder form of hypermobility.

“We never really realised early on that there was anything wrong with Charlie,” explains mum Melanie from Selby.

“All the tell-tale signs of his condition we could all do. We were all extremely flexible, in the old days it would have been called double-jointed, so we didn’t realise there was anything wrong until Charlie was diagnosed and all the pieces fell into place and we realised that we all suffered from it.”

It is not clear how many people in the UK have joint hypermobility. There are estimates that up to three in 10 people may be affected to some degree. What makes the Howrams especially unusual is that both Melanie and her husband Mark have hypermobility syndrome as do all their children, Lucy, 17, Jacob, 15 and Charlie, eight.

“It normally comes down one side of the family, but in ours it on both sides,” she explains.

“It is a spectrum, a bit like autism. Some people live with it without too many problems and in some ways it is seen as positive, especially for people like gymnasts to be so supple, but then there are people like Charlie for whom it is quite debilitating.”

For Melanie, Charlie’s diagnosis cast a light on her own health problems. “I have had various serious complex health problems throughout my life including BS and chronic fatigue I had to give up work due to ill health at 26. All my problems were treated individually and no one joined up the dots.”

As for Charlie he now sees 14 specialists at five different hospitals, so diverse are his problems. He also needs daily physiotherapy

“He didn’t walk until he was 18 months old,” says Melanie. “And then when he did start he was in so much pain he stopped again.”

He was also waking five out of seven nights crying out in pain.

But it was when Mark and Melanie went away for their tenth wedding anniversary that the alarm bells started to ring.

“My mum took the children to Whitby and while Charlie was playing in the sand she noticed his ankles were collapsing.”

They took him to an orthotist who said that Charlie was suffering from hypermobility syndrome.

“It was the first time we’d ever heard of it and so we Googled it. We thought at first it couldn’t be that as we all had a lot of the symptoms listed. Then we realised we must all have it.”

The pain and exhaustion led Charlie to have massive aggressive meltdowns, sometimes physically but often verbally. He was so exhausted at school that he would fall asleep down to the condition and also the medication he was on to manage the pain.

“It was heartbreaking to see him in so much pain.”

In desperation Melanie took to the internet again and came across the Hypermobility Syndromes Association, which is supported by the charity Jeans for Genes.

“They have been so fantastic,” says Melanie. “They really supported us. They gave me the knowledge to really press the doctors. Few of them had actually come across someone like Charlie before. They kept saying he would grow out of it and I really felt that gaining the knowledge gave me some control over what was happening to him.”

With her new found knowledge Melanie pushed for a referral to the Sheffield Children’s Hospital.

It was there that Charlie eventually received his EDS diagnosis and the Howram’s were told there was no cure and that their son would probably need a wheelchair and constant medication.

“We walked out of there in a daze.

“We had to grieve, just to be able to carry on.

“When you get pregnant, you dream a future for your child, and when it’s taken away, you need to deal with that.”

Charlie is now home educated, something Melanie says has really helped.

“School was difficult as we had to work it around all his hospital appointments and also he was so tired that he ended up coming home early. It wasn’t a decision we took lightly, but it has been the right one for Charlie. For us it is all about his quality of life.

“If a joint does dislocate such as a finger he now knows how to pop it back in. We try to make light of it when we can. And then I take to Facebook and have a rant.

“It is so hard as you want him to play out and be like other children, but then the next day he is in agony, I don’t want him to stop doing things because he was worried about the consequences.”

• More than one in every 25 children born in the UK has a genetic disorder – that’s 30,000 children a year.

It means that the health problems associated with genetic disorders are the biggest cause of death of children age 14 and under.

Jeans for Genes sponsored the Hypermobility Syndromes Associations Family Days which gives children with the condition, siblings and parents with the condition to get together and give each other support

Jeans for Genes day is Friday September 19.

To sign up for your free fundraising pack, visit www.jeansforgenes.org”