Proper Diagnosis Helps Family Deal with Ehlers Danlos Syndrome
Diagnosis is the first step in treatment of Ehlers Danlos Syndrome. Yet, 95% of sufferers remain undiagnosed*. 50 percent of patients waited more than 20 years to receive a proper diagnosis, according to the EDSawareness.com poll.
This is because the eight-year-old’s entire family – mum Melanie, dad Mark, his sister and two brothers – also have the same condition, Ehlers Danlos Syndrome, but for them, the symptoms are far less debilitating.
Charlie’s parents only managed to get to grips with their son’s illness when he was finally diagnosed by experts at Sheffield Children’s Hospital, and now Melanie wants to raise awareness of genetic disorders – as problems associated with the conditions are the biggest cause of death of children aged 14 and under.
More than one in every 25 children born in the UK has a genetic disorder – or 30,000 a year.
Ehler Danlos Syndrome is a genetic mutation which affects collagen in the body, meaning Charlie’s joints regular dislocate because of an absence of normal collagen around them.
The youngster also has chronic pain amplification syndrome – where even mild pain is felt severely.
“We never really realised early on that there was anything wrong,” said Melanie.
“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 normally comes down one side of the family, but in ours it is on both sides.”
Melanie said EDS is on a ‘spectrum’, similar to 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.
“It can be anything from pulling on his trousers or he can just be walking and his ankle will go, or his hip.”
Charlie now sees 14 specialists at five different hospitals, and also needs daily physiotherapy.
“He didn’t walk until he was 18 months old, and then when he did start he was in so much pain he stopped again,” said Melanie, 37.
He was also waking most nights, crying out in pain, but the warning signs became clear when Mark and Melanie went away for their 10th wedding anniversary.
“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 caused Charlie to have aggressive meltdowns. He would fall asleep at school because of the condition and his medication.
In desperation, Melanie took to the internet again and came across the Hypermobility Syndromes Association.
“They have been so fantastic,” says Melanie.
“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.”
Melanie said she and Mark, 41, walked out of the children’s hospital ‘in a daze’ after being told their son would need a wheelchair and lifelong medication.”
“We had to grieve, just to be able to carry on. We try to make light of it when we can. He is such a lovely happy little boy. But children don’t understand the pain they are feeling. We have to teach Charlie he is not going to get better.”
The UK Hypermobility Syndromes Association has been a fantastic resource for Melanie Howram and her family.
*Source: Dr. Rodney Grahame study
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