ONE Woking mum is doing her utmost to make sure as many people as possible are aware of a little known but debilitating condition she has suffered from all her life.
Nathalie Larcombe, from Goldsworth Park, has Ehlers-Danlos Syndrome – a painful, severe and sometimes crippling disorder that isn’t visible from the outside, and one the lifetime sufferer believes should be brought to everyone’s attention. She was diagnosed with the condition at 18 months.
Nathalie, now 25, explained: “I suffered recurring dislocations and bad bruising from turning in my cot, and EDS types I, II and III were identified.
“My parents had never heard of it, but I was fortunate that their GP’s husband was doing a study on the condition, so she knew of it. She referred me to paediatric rheumatologist Dr Frances Howard at Frimley Park Hospital, who put me under her care until I was about 15.
“It’s horrible having such a severe condition when no one can see the problem, and even worse when they won’t believe there is one. Even the simplest of daily tasks like chopping food or washing hair is a battle and can cause debilitating pain.”
EDS is an inherited connective tissue disorder caused by a defect in the structure, production or processing of collagen, or the proteins that interact with it.
Collagen in connective tissue helps the body resist deformation and is an important contributor to the strength of the skin, joints, muscles, ligaments, blood vessels and visceral organs (heart, liver and kidneys).
Abnormal collagen renders these more elastic and, in some cases, the severity of mutation can be life-threatening, and there is no cure. It is believed that EDS affects approximately one in 5,000 people worldwide.
Nathalie added: “EDS also makes me clumsy. I have fallen down stairs six times because a hip or knee has dislocated and caused me to lose my footing.”
Not only does she and other sufferers have continuous pain throughout their lives, she said the biggest problems they face are mostly due to people’s ignorance of EDS, including poor knowledge among medics, so it is difficult to diagnose.
She said: “At school and college I had repeated episodes of back spasms when we had to sit for long periods. These left me paralysed for hours until I was given enough diazepam to alleviate the spasms.”
Nathalie had a lot of help in exam situations up until university, but said that because the condition is not outwardly visible, there was resentment from others. “To see me in the street you’d think I was ‘normal’. I’ve had a blue disabled badge for the past nine years, which has made life a lot easier.
“I’m not 100 per cent wheelchair bound and am able to drive, but I really am offended by the looks, or worse still, comments when I put my badge in the car and people see me get out. My husband, John, finds it very hard to hold his tongue.”
EDS can also affect pregnancy. In 2009 Nathalie gave birth to a daughter. She said: “I was monitored closely. In a normal pregnancy you produce a hormone that allows your joints to become supple and prepares you for the baby’s delivery, but because I have the condition, everything was already lax, and the cartilage and front of my pelvis began to tear. I had to be put to bed-rest for the final six weeks before Lola’s birth.
“Having read up on EDS in pregnancy, I knew compound births are common – where the baby puts one or both hands up by their head because of the extra space in the pelvis. This had happened to mine but the midwives refused to believe me.
“My baby came out in a pool of blood from a massive haemorrhage I’d had, and I passed out. It was a second-degree tear.
“I gave birth to my second daughter, Sofia, just over a year ago. My labour was only two hours and I lost a lot of blood. I underwent six hours of surgery to repair the damage as well as some residual damage from my first birth.”
In spite of everything, Nathalie and her baby were able to return home four days later.
She believes that the more people who make their experiences with EDS public, the better it will be for all sufferers. She added: “If any of us have stories that can make people aware the condition exists, it can only be a good thing.
“I’m not hysterical or a hypochondriac: EDS is a real condition with real complications, and every healthcare professional needs to be aware of it. It is beginning to grate on me when I say to a doctor: ‘I have EDS’, and they say ‘Just remind me what that is again…”
Because the symptoms can be so broad, people go undiagnosed for years, and it can often be mistaken for other ailments. Nathalie said: “It is a fact that in the history of modern medicine no disease has ever been neglected the way EDS has. I don’t think we should have to suffer in silence any longer.
“It may be hard for doctors to see the connection between velvet-soft skin, nausea, bruising and random dislocations, but the link is there – and it is called Ehlers Danlos Syndrome.”
GO TO www.ehlers-danlos.org for more information about Ehlers-Danlos Support UK.