Headaches, bloating and fatigue? Your body may be stretching out of shape

Read the article on dailymail.co.uk

Kate Barnes, 52, from Buckinghamshire, has lived with chronic headaches

  • Despite being a GP, Kate struggled to put a finger on what was happening
  • Two years ago she found out she has Ehlers-Danlos syndrome (EDS)
  • Genetic disorder means connective tissue is weakened by genetic mutation

Dr Kate Barnes "I got rid of her migraines without drugs" Kate is a GP who re-trained in Hypnotherapy and CBT, she now works privately offering an enhanced GP service. She suffered from severe migraines since early childhood, but now controls them successfully by avoiding certain foods, relaxation, maintaining steady blood sugar. Pictures by Rann Chandric on Saturday 30th August 2014.

For 20 years, GP Kate Barnes has lived with chronic headaches and pain. ‘I was struck by neck and shoulder pain after the birth of my eldest son, now 22, and by the time I had my second son, 17 months later, anything that involved using my upper arms and shoulders was painful,’ she says.

Her neck and shoulders even hurt when she loaded the washing machine. Kate, now 52, also felt chronically tired.

She assumed these were just normal muscle aches, exacerbated by the tiredness so many women feel after having a baby – Kate’s third son was born 16 years ago. Yet as her boys grew, the pain and fatigue didn’t budge and she noticed an increasing number of other, apparently unconnected, symptoms.

Though sporty as a child (she played county tennis), by 30, Kate noticed she’d lost much of her stamina and would become breathless walking up even gentle hills.

‘Weirdly, I found warm days, sunshine and hot rooms completely sucked the energy out of me. And when I stood for any length of time, I’d feel as though I was going to faint,’ she says. ‘I was plagued by migraines and would get out of bed each morning with my whole body feeling sore and stiff.

‘My eyesight also seemed to be appalling in the evenings – I’d drive everyone crazy at home by insisting all the lights were switched full-on.’ And her digestive system became increasingly unsettled – with bloating and constipation, and sometimes diarrhoea.

Despite being a GP, Kate, who lives in Buckinghamshire, struggled to put a finger on what was happening. ‘I decided to blame stress – I’m the sort of person who has always thrived on being busy – and told myself I just had to get on with life,’ she says. ‘I looked so well that anyone hearing about my symptoms could be forgiven for thinking they had a complete mad woman on their hands.’

During her 30s, Kate had referrals to two different rheumatologists and a pain specialist in a bid to find a diagnosis, but her blood tests were normal. Then, two years ago, on her 50th birthday, she vowed to do whatever it took to sort things out and decided to see a neurologist.

Scans and tests revealed unusual neurological signs and she was referred to five top London hospitals for different specialist neurological investigations.

Eventually, Kate found herself in the consulting rooms of Professor Christopher Mathias, an autonomic and neurovascular medicine specialist at St Mary’s Hospital in London. After reading her notes, and noting the way she was trying to keep her head and body reclined in the chair to stop her dizziness and nausea, he tested her for hypermobility, that is ‘double-jointed’ or excessively flexible joints.

He then told her: ‘I think I know what’s wrong with you – you’ve got Ehlers-Danlos syndrome’. (EDS) is a genetic disorder in which the connective tissue – which supports, binds or separates tissues or organs – is weakened by a genetic mutation.

The classic signs are excessively stretchy or fragile skin or very flexible or loose joints, which dislocate easily – we all remember the kid at school who could bend their thumbs back to touch their arm.

However, increasingly, experts believe the condition can cause more diverse symptoms as the blood vessels, organs, bones and even the digestive tract can all be abnormally fragile and ‘stretchy’, too. This can lead to a wide and seemingly unrelated range of symptoms, which is why, as Kate discovered, it’s so difficult to diagnose. Even though hypermobile joints are usually the one underlying factor, the degree to which the condition affects patients varies.

‘You can have hypermobile joints and be perfectly healthy – better than healthy, in fact, because you can do things other people can’t,’ says Professor Mathias, who explains that the condition is not uncommon in top athletes, gymnasts and ballet dancers.

There are many different forms of Ehlers-Danlos, affecting different parts of the body. Hypermobile joints may be the least of your problems – in vascular Ehlers-Danlos syndrome, for example, blood vessels can become fragile and rupture, while the kyphoscoliotic type can lead to curvature of the spine.

The linking factor is the abnormal or fragile connective tissue which can result in gut problems (sluggish digestion, constipation and bloating due to weakness in the gut wall), hernias (as well as uterine or rectal prolapse), heart valve abnormalities, varicose veins, bladder problems (such as urinary tract infections and incontinence as the pelvic floor collapses).

It might trigger impaired proprioception, where you can struggle with balance, and loose connective tissue around joints can lead to premature osteoarthritis.

Some patients have problems in the autonomic nervous system, which governs the body functions we don’t have to think about, such as the control of blood pressure, heart rate, temperature and the gastro-intestinal tract.

This can lead to rapid heartbeat, dizziness, excessive sweating and an inability to cope with heat.

The nervous system can also become sensitised, causing pain, and fatigue.

But because there are overlapping symptoms, it is almost impossible to gauge how many people are by affected by Ehlers-Danlos syndrome that involves autonomic dysfunction, though Professor Mathias speculates it may be as common as Parkinson’s, which affects an estimated one in 500 Britons.

Professor Mathias says the way symptoms can occur over time, as in Kate’s case, is typical. They are usually triggered by an event such as surgery, infection or even traumatic childbirth, which shocks the body and triggers problems with connective tissue – Kate now thinks the glandular fever she had as a student could be the culprit.

There is no single test for Ehlers-Danlos syndrome, and diagnosis relies on taking the patient’s medical history, and examination.

And if, like Kate, you don’t have hypermobile joints that cause problems, you may never be diagnosed.

As she points out: ‘If you are struck, as I was, with a strange combination of symptoms, you can easily be put into the melting pot of chronic fatigue or dismissed as a hypochondriac. There could be thousands of people struggling with chronic pain, but undiagnosed.’

And doctors – even specialists – may not be fully aware that hypermobile joints could be an important sign of the condition and could explain a patient’s other symptoms. ‘As medical students, we were shown one slide about the condition, and if you were dozing through that particular lecture, you could very easily miss it,’ says Kate.

Indeed, it was only by chance she ended up seeing Professor Mathias. A previous specialist had suggested a lumbar puncture (in which a syringe is used to draw fluid off the spine) to check for multiple sclerosis, but Kate had a severe reaction to the process.

When the needle pierced the connective tissue surrounding her spine, the tissue was so thin and brittle as a consequence of her condition, that it ripped like cellophane.

Afterwards, Kate was struck by a persistent debilitating headache and spent weeks bedridden. Because of these problems she was referred to Professor Mathias.

When he read about the lumbar puncture, and saw how Kate was sitting, leaning back slightly to stop her dizziness, he suspected Ehlers-Danlos syndrome.

Tests on her joints and autonomic system confirmed his diagnosis.

‘It was such a relief to finally understand what’s been happening to my body,’ says Kate.

Even though there is no cure, a proper diagnosis is still important, says Professor Mathias. ‘It means we can tackle each symptom separately and, if needed, get the correct specialists involved.’

Kate now takes medication for low blood pressure, her unsettled digestive system, pain and sleepiness. She also finds that CBT (cognitive behavioural therapy) and hypnosis, which she practises (and teaches), help her deal with the symptoms and reduce stress.

Kate has taken a special professional interest in the condition and GPs are now sending their more complex cases to her. She has also picked up five cases in her small NHS practice alone.

drkatebarnes.co.uk, ehlers-danlos.org.

Autonomic Charitable Trust (ACT) raises funds for awareness and research into the condition.