As an accomplished performance artist, Roxani Eleni Garefalaki was able to contort her body into incredible positions — including balancing on stilts for the opening ceremony of the Athens Olympics in 2004.
But while the Greek acrobat may have looked strong and flexible, she would collapse with joint pain and extreme tiredness after shows finished.
She also had unexplained tinnitus, a ringing in her ears, for days at a time.
Performer: Roxani Eleni Garefalaki was able to contort her body into incredible positions — including balancing on stilts for the opening ceremony of the Athens Olympics in 2004
‘I went into performance arts from a very young age,’ says Roxani, 35, who lives in London.
‘When I was 12 or 13, I started having problems with tinnitus. It was very bad but if I rested it would be fine after two or three days. Doctors didn’t understand what was wrong.
‘At 18, I started doing aerial acrobatics. I was very successful but shows would be followed by a complete collapse. I’d be in great pain and have to rest. In the end, I was spending everything I earned on osteopaths and physiotherapists to help the pain in my joints.’
After moving to the UK aged 29, her symptoms were repeatedly dismissed by her GP and a specialist.
However, three years ago, a rheumatologist — a doctor specialising in musculoskeletal medicine — finally diagnosed hypermobile Ehlers-Danlos syndrome.
People with the condition have faulty collagen, a protein that normally strengthens connective tissue. The condition means that connective tissue all over the body that supports the skin, tendons, ligaments, blood vessels, internal organs and bones is affected, causing a range of problems including unstable joints, fatigue, digestive problems and bruising.
Some patients, like Roxani, also experience tinnitus.
Finally diagnosed: But while the Greek acrobat may have looked strong and flexible, she would collapse with joint pain and extreme tiredness after shows finished
COULD YOU BE HYPERMOBILE?
The Hypermobility Syndromes Association has devised this questionnaire for hyper- mobility.
If you answer yes to two or more questions then you may have joint hypermobility and may want to see a doctor about getting help…
1. Can you (or could you ever) place your hands flat on the floor without bending your knees?
2. Can you (or could you ever) bend your thumb to touch your forearm?
3. As a child, did you amuse your friends by contorting your body into strange shapes or could you do the splits?
4. As a child, did your shoulder or kneecap dislocate on more than one occasion?
5. Do you consider yourself to be double-jointed?
Hypermobility comes in a range of different forms, of which hypermobile Ehlers-Danlos syndrome is a severe form. At the other end of the spectrum is joint hypermobility — commonly known as being double-jointed — which affects 10 to 15 per cent of people.
Hypermobility itself is not a disorder. It’s a trait, like height, which gives people a greater range of movement than normal in their joints so they are able, for example, to touch their wrists with their thumbs.
It can even be advantageous, particularly in certain sports and performing arts — such as Roxani’s acrobatics — as it gives an incredible range of movement.
‘A small percentage develop musculoskeletal symptoms as a result of their stretchy collagen and they typically have “clicky” joints which can sometimes dislocate,’ says Dr Philip Bull, a consultant rheumatologist and advisor to the Hypermobility Syndromes Association charity.
‘These patients usually manage well with specialist physiotherapy.
‘A smaller group of patients have hypermobility spectrum disorders such as hypermobile Ehlers-Danlos syndrome, which can cause other problems such as chronic pain, irritable bowel syndrome (IBS) and dizziness on standing.
‘Other symptoms include stretchy skin, poor wound healing, easy bruising, hernias, varicose veins, pelvic problems, bladder irritability and clumsiness.
‘Many patients with hyper-mobility experience their first symptoms as a child or in their teenage years; others discover they have a hypermobility syndrome later in life and realise, looking back, that this has been their problem all along, sometimes having been labelled as having “medically unexplained symptoms” ,’ adds Dr Bull.
Roxani’s experience of strugglng to get a diagnosis is all too familiar, according to the charity, as hypermobility spectrum disorders continue to be missed or not even considered by specialists.
According to a poll in 2012, most people wait ten or more years for a diagnosis — and some don’t get diagnosed for decades.
‘There are still so many people who are not diagnosed for 30 or 40 years,’ says Donna Wick, chief executive of the Hypermobility Syndromes Association. ‘I get 80-year-olds ringing me up. It’s so sad because they spent their whole lives being disbelieved.’
Part of the problem is that patients can have a wide range of symptoms and so will go to different specialists — for example, a gastroenterologist if they have IBS, or an orthopaedic surgeon if they keep dislocating their shoulders. However, rheumatologists, orthopaedic surgeons and physiotherapists should be in a good position to identify hypermobility.
Early diagnosis is important so that patients can be given the right advice on how to manage their condition.
Did you know? Hypermobility itself is not a disorder. It’s a trait, like height, which gives people a greater range of movement than normal in their joints so they are able, for example, to touch their wrists with their thumbs
WHAT IS EDS?
Ehlers-Danlos syndromes (EDS) are a group of rare inherited conditions that affect connective tissue.
Connective tissues provide support in skin, tendons, ligaments, blood vessels, internal organs and bones.
There are several types of EDS that may share some symptoms.
– The different types of EDS are caused by faults in certain genes that make connective tissue weaker.
– Depending on the type of EDS, the faulty gene may have been inherited from 1 parent or both parents.
– Sometimes the faulty gene is not inherited, but occurs in the person for the first time.
EDS can affect people in different ways. For some, the condition is relatively mild, while for others their symptoms can be disabling.
Some of the rare, severe types can be life threatening.
There is no definitive test for hypermobile Ehlers-Danlos syndrome, so specialists should look out for joint hypermobility, signs of faulty connective tissue throughout the body (for example, hernia or prolapse), a family history of the condition, and dislocations, according to the charity Ehlers-Danlos Support UK.
To help identify if there could a be a problem, the Hypermobility Syndromes Association has devised a five-point questionnaire (see box at top of page). If you answer two or more of the questions with yes, then you may have hypermobility and may want to consider seeing a specialist about getting help.
There is no specific treatment, but rather different ways of managing the symptoms.
‘For many patients, symptoms can be made manageable and patients are able to live active and fulfilling lives,’ says Dr Bull.
‘This starts with a correct diagnosis and validation of the patient’s symptoms — in particular, understanding that this is not just “in their head”.
‘Most people benefit from expert advice from a physiotherapist skilled in hypermobility management, focusing on core stability and general fitness,’ he says. Dr Bull recommends the Alexander technique — which teaches improved posture and movement — for musculo-skeletal symptoms.
‘If you consider the body as a machine, such as a car, the physiotherapist is like a mechanic ensuring that all your tissues are moving normally, and the Alexander technique teacher is like a driving instructor, teaching you to move more effectively,’ he says.
‘There is also evidence that tai chi is effective in patients with fatigue, and mindfulness is well established as a management tool for anxiety and depression as well as improving pain management.’
For Roxani, the Alexander technique has helped her manage her condition. But she no longer does gymnastics as she believes this aggravates her symptoms.
‘I know how careful I must be with myself,’ she says. ‘I still get symptoms, but I know not to go to extremes in terms of exercise.’