As a child, Alexandra Kay’s ‘party trick’ was showing her friends the incredibly stretchy skin on her stomach. She was also prone to stretchmarks and bruised easily.
These were actually signs of a serious genetic disorder that would eventually leave her in constant pain.
When younger, she thought it was normal for joints and muscles to ache, as hers often did. ‘I’d assumed everyone is in pain when they wake up — that it’s hard to get out of bed and to move,’ says Alexandra, 28, an artist from West Sussex.
But, as the pain in her neck and lower back became more severe when she entered her teenage years, Alexandra and her mother, Charlotte Vohtz, began to search for answers.
Alexandra saw specialist after specialist. At first, for the pain, and then for other — apparently unconnected — issues, such as a strange pressure she felt behind her eyes and curvature of the spine.
As a child, Alexandra Kay’s ‘party trick’ was showing her friends the incredibly stretchy skin on her stomach. She was also prone to stretchmarks and bruised easily
When her periods started, they also caused her extreme pain, which was put down to polycystic ovary syndrome (a condition where the ovaries don’t release eggs regularly and can cause them to become enlarged).
Then, while taking her A-levels, things took a turn for the worse. Alexandra had always had a sensitive stomach, but now she was struggling to keep any food down at all and her weight plummeted.
From then ‘it’s as if I can feel everything going through me, even liquid’, she explains. ‘It’s like every nerve ending in my body is firing up.’
Despite seeing several gastroenterologists, no explanation or effective treatment was found.
‘It was a nightmare,’ says Alexandra. ‘The doctors were all saying it was in my head. One even called me an anorexic alcoholic.’
It was only when an osteopath Alexandra had been seeing for joint pain mentioned something called Ehlers-Danlos syndromes (EDS) that the pieces of the puzzle began to fall into place.
EDS are a group of 14 connective tissue disorders. What they tend to have in common is joint ‘hypermobility’, that is, very flexible joints, very stretchy or very fragile skin that bruises or injures easily.
‘Connective tissue is like the glue of our body,’ explains Dr Fransiska Malfait, a rheumatologist at the University of Ghent in Belgium, who is president of the International Consortium on EDS.
‘It’s essentially a collagen disorder. Collagen is an important protein in our connective tissue, as it forms fibres that give it structure and elasticity. If there is a collagen problem — where you have less of it or it is abnormal in structure — the tissues can be more fragile.’
As connective tissue is found all over the body, it can cause problems everywhere. Some types can lead to dangerously fragile blood vessels, for example, while others affect the eyes or gums.
In Alexandra’s case, the primary issue was her digestive system.
Alexandra’s gastroenterologist agreed with the osteopath’s suspicion and referred her to an EDS expert. In April 2018, she was diagnosed with hypermobile EDS — the most common type, affecting around one in 5,000 people. (Although, these figures are likely to be an underestimate, according to the charity Ehlers-Danlos Support UK.)
It had been more than 12 years since Alexandra and her mother, Charlotte, the founder of skincare brand Green People, first sought help. This is not unusual, says Dr Anand Saggar, a consultant clinical geneticist at St George’s NHS Trust in London.
‘Hypermobile EDS is so poorly recognised, these patients can wait years before they get a diagnosis,’ he says.
This is partly because the problems people with hypermobile EDS have can be quite diverse, adds Dr Fleur van Dijk, clinical lead of the NHS’s London national diagnostic EDS service, aimed at rare types of EDS.
As well as joint pain, clicking joints and frequent dislocations, those affected can also have gastric problems such as extreme constipation, heartburn, or irritable bowel-type symptoms, because connective tissue is found throughout the digestive tract.
Another complication is a painful bladder condition, interstitial cystitis, which may be mistaken for recurrent urinary tract infections.
Others have trouble regulating their blood pressure, leading to dizziness and a racing pulse.
However, it’s only recently that such problems have been linked to hypermobile EDS, says Dr Saggar. ‘We also know that there’s a higher incidence of lactose and glucose intolerance,’ he says.
It’s not clear why this should be. One theory is that the changes to collagen alter the lining of the gut, making it more inflamed, ‘leaky’, and therefore susceptible to intolerance-like reactions.
A major complicating factor is that although hypermobile EDS, like all Ehlers-Danlos syndromes, is thought to be a genetic condition and runs in families, no specific gene mutation has been found. This means the diagnosis of hypermobile EDS cannot be confirmed with a gene test.
This lack of a known gene variant also contributes to widespread scepticism about the condition, says Dr Saggar: ‘Some doctors still refuse to accept it as a genetic condition.’
Not being believed was, for Alexandra, almost the worst part of her illness.
‘I was not always treated kindly,’ she says. ‘It makes you believe that there must be something wrong with you, mentally.’
After doctors insisted her problem was really an eating disorder, she doubted herself so much she admitted herself to a rehab facility. ‘But they called my mum after two days and said: “There’s something else wrong with her.” ’ When Alexandra was finally diagnosed, it was ‘like I could breathe again’.
According to Dr Malfait, scepticism surrounding EDS ‘will remain a problem, until we have more objective markers for the disease’.
Experts are still learning about the causes of EDS — the most recent type was identified only in 2018, says Dr van Dijk. ‘In the 1990s, we knew only about six types, whereas now we have 14.’
However, Dr Malfait says it is unlikely that a single gene variant will be found for hypermobile EDS. If it was simply down to one mutation ‘we would have found the genetic defect by now’, she explains. ‘The underlying genetic causes of hypermobile EDS are probably more complex than what we see in the other types.
‘Maybe there is an interaction between several genes, plus factors such as ethnicity or gender. For example, whereas for the other types it’s 50-50, 90 per cent of people we see with hypermobile EDS are women,’ says Dr Malfait. ‘It’s overwhelming. That’s another reason it’s not taken seriously.’
Currently, there is no treatment that can correct the cause of EDS — abnormal connective tissue. Instead, treatment focuses on managing the symptoms, and varies depending on the type.
For hypermobile EDS, physiotherapy with someone familiar with it is important, says Dr Saggar. As is pain medication.
Where there are problems with the gut or bladder, seeing an EDS specialist is key, as symptoms don’t often respond to standard treatments. ‘It can take months, even years, to see an improvement,’ says Dr Saggar.
Tragically, a few days after this interview took place, in June, Alexandra passed away.
It’s not yet clear whether her death was linked to complications of EDS. (The condition is not usually regarded as life threatening.) She had been very unwell in the weeks beforehand.
Her gut was still not functioning properly, despite taking medication to help, she was unable to eat much, and was in constant pain.
She had been told that part of her intestine had become trapped between two main arteries — again, it is unclear whether this was related to the EDS.
Before she died, Alexandra was passionate about raising awareness of EDS — especially as she so often struggled to get people to take her invisible illness seriously.
As she put it: ‘A lot of people would look at me and think: “Oh she’s not really ill.”’ Alexandra had been about to launch a range of wellbeing products, including essential oils — something she found therapeutic — with 10 per cent of the profits going to Ehlers-Danlos Support UK.
‘It’s my mission to shout about it as much as I can and reach as many people as possible,’ she said, in what would be her first and last interview. ‘It gives me purpose.’
The Alexandra Kay range is available at greenpeople.co.uk