I'd love to push my daughter on a swing, but I can't without dislocating my joints, says mother suffering with rare 'very bendy' joints condition

As I rolled the dice in a game of Monopoly, a searing pain shot through my elbow and I could no longer bend or straighten it.

My eyes teared up from the pain and frustration, but I didn't want my seven-year-old daughter, Amelia, to be alarmed, so I asked her to roll the dice for me.

I didn't know it at the time, but my elbow had partially dislocated.

In fact, partial dislocations — or subluxations — had been happening daily for ­decades. 

In my coccyx and pelvis when I stood up; in my jaw when I ate; and in my thumbs when I drove my car — each time bringing pain, weakness and inflammation.

Punteha: My eyes teared up from the pain and frustration, but I didn't want my seven-year-old daughter, Amelia, to be alarmed, so I asked her to roll the dice for me. I didn't know it at the time, but my elbow had partially dislocated

Punteha only found out what the disorder was while while watching a TikTok in 2022 about hypermobile Ehlers-Danlos syndrome (hEDS) that I got an explanation

Looking back, the problem began aged six with my knees. I would plant my foot on the floor and twist to pop it back in place when my leg stopped working.

At first, I didn't tell anyone as it didn't hurt, and I didn't realise that it was abnormal. But then it started affecting my other joints and, from my teens, caused pain.

Since then I've seen GPs, physios and specialists hundreds of times over 22 years, and had surgery on both wrists, my left knee and hip to fix ligament, ­tendon and cartilage damage.

While some of these medics would comment on how hypermobile — i.e. very bendy — my joints were, none of them identified the cause.

Meanwhile, my painful injuries increased in frequency, making me avoid sports as a teen and leaving me struggling with everything from walking to washing my hair.

It was only in 2022, aged 35, while watching a TikTok video about hypermobile Ehlers-Danlos syndrome (hEDS) that I got an explanation.

This is one of 13 different subtypes of Ehlers-Danlos syndrome — a connective tissue disorder that affects collagen, a protein found in every part of the body, from hair to joints, muscles, tendons, veins and organs.

The video described how hEDS, by far the most common type of EDS, causes sufferers varied and often debilitating symptoms, including dislocations, stretchy skin, easy bruising, pain and digestive problems.

After watching the video, I started ­listing the symptoms I'd suffered for years and which I thought were relevant: joint and muscle pain; soft tissue injuries; fatigue; loss of mobility and insomnia. I wrote three pages' worth.

Then, armed with this and a copy of EDS Support UK's GP toolkit — telling GPs about symptoms and management — I went to see my own doctor, who'd been failing to get my pain under control for years.

Punteha: Looking back, the problem began aged six with my knees. I would plant my foot on the floor and twist to pop it back in place when my leg stopped working. At first, I didn't tell anyone as it didn't hurt, and I didn't realise that it was abnormal

She agreed that a diagnosis of hEDS would explain a lot, referring me for the first time to a rheumatologist.

Sadly, there was a long waiting list on the NHS, so I saw a specialist privately. In February 2023, it was confirmed that I did indeed have hEDS.

The condition is diagnosed after a medical history and, using the Beighton test, a nine-point scoring system based on whether you can perform various manoeuvres, such as bending your pinky finger backward, and visible signs such as indented scars — both signs of compromised collagen.

Historically, hEDS was estimated to affect one in 5,000 people, but recent studies suggest it's closer to one in 500. 

And even this may be an underestimate, as the varied symptoms mean it can often be missed or misdiagnosed.

While it may have taken 22 years for me to be diagnosed, I consider myself lucky. I was able to see a rheumatologist ­privately but there are fewer than 700 rheumatologists working in the NHS, compared with around 2,600 orthopaedic consultants, for instance. 

And there are waiting lists of up to six years in some parts of the UK.

In fact, since 2021, rheumatology departments in England have been directed by NHS England to stop seeing suspected hEDS patients, in favour of diagnosis and management in primary care.

However, there are concerns that primary care is woefully under-equipped for this role.

Dr Emma Reinhold, a GP and fellow hEDS sufferer, who helped create the hEDS GP Toolkit, says: 'GPs are capable of making the diagnosis, but a change in the diagnostic criteria in 2017 made that harder and we saw a drop in the number of GP-led diagnoses.

Historically, hEDS was estimated to affect one in 5,000 people, but recent studies suggest it's closer to one in 500

'And if you have only ten ­minutes with each patient, you can't diagnose this complex, multi-system condition.'

As a result, patients in the UK wait, on average, 11 years for an hEDS diagnosis, according to EDS Support UK.

This is perhaps because the symptoms are wide-ranging and can seem unconnected — and there is still a misconception that hEDS only affects joints, says Dr Reinhold.

'In fact, it affects every system in the body, because every system has collagen.'

The lack of education on connective tissue disorders in the healthcare profession is a real issue, says Dr Sunil Arora, a consultant in pain and anaesthetics and medical director of private MyAccess Clinics.

'I was never taught about EDS at medical school,' he says. 'When I opened my clinic, the majority of the patients through our doors desperate for pain relief were those with, or ­suspecting they had, hEDS.'

A look in any of the dozens of online support groups lays bare the way many patients are dismissed. 

There are stories of ­doctors misdiagnosing the condition as fibromyalgia and IBS, for instance, or anxiety and stress.

Others are told that their pain 'is in their head', and some are referred to ­mental health services.

It took Hannah Louise Angle, 29, a former customer service adviser from Cardiff, 27 years to be diagnosed with hEDS.

'When I was a baby, my dad once took me to hospital four times in one day for dislocations in my left elbow and shoulder,' she says.

'Doctors initially called social services, assuming I was being mistreated. It was only when he convinced them to watch me roll over that they saw my shoulder pop out.' 

But he was told 'that's just the way she is'.

Her pain became worse into her teens, a common progression as hormone levels rise. 

The problem peaked for Hannah when, in 2021, searing pain in her shoulder led to her making a shock request.

'I was so desperate that I begged a surgeon to amputate my arm,' she says. Her request was denied, but it made doctors finally take her pain seriously. 

After a further referral, she was diagnosed with hEDS in September 2021.

'But an earlier diagnosis might have meant I wouldn't be in chronic pain now,' says Hannah, who takes eight co-codamol ­tablets a day.

For although hEDS cannot be cured and is progressive, early diagnosis means treatment such as physiotherapy to strengthen muscles and stabilise joints, mobility aids and surgery to repair ­tissue can be given in a more timely manner and be more effective. 

'Before my diagnosis, during physio with someone who was not hEDS informed, I was prescribed weight training to increase ­muscle strength, but it ripped tendons from my neck to my elbow, ­causing extra pain,' says Hannah.

Punteha: Sadly, there was a long waiting list on the NHS, so I saw a specialist privately. In February 2023, it was confirmed that I did indeed have hEDS

Punteha: For me, had there been better recognition for the condition and I'd known I had hEDS earlier, I would have been protective of my joints, instead of pushing through repeated injuries following ill-advised physiotherapy regimens in the vain hope they would help

All this has had a profound ­psychological effect and she's been diagnosed with PTSD, ­anxiety, depression and suffers from 'painsomnia' — trouble falling or staying asleep due to pain.

Last year, she had to quit her job because of pain and relies on her partner Jordan, 24, a cook, to put her dislocated joints back in throughout the day.

'Having hEDS is bad news, but I still cried tears of joy when I was diagnosed,' Hannah says. 'At least I now know what the problem is.'

Dr Arora argues that creating multi-disciplinary NHS centres focused on hEDS management 'would improve patient experiences'. 

Ehlers-Danlos Support UK has long campaigned for dedicated NHS care pathways.

Dr Hanadi KazKaz, a consultant rheumatologist at University College London Hospitals and ambassador for the charity, told Good Health: 'The lack of specialised services often results in delayed diagnoses, inadequate treatment options and a lack of understanding among healthcare providers.

'This can lead to prolonged ­suffering, decreased quality of life and unnecessary disability.'

In fact, there was one specialist NHS hEDS centre in England, the Hypermobility Clinic at University College London Hospital — but a few years ago it was closed to referrals due to a lack of funding.

Last year, Ehlers-Danlos Support UK petitioned the Government for dedicated NHS services for those with hEDS and other hypermobility spectrum disorders (HSD). 

These are connective ­tissue disorders that cause joint hypermobility, instability, injury and pain. 

However, patients don't have a positive Beighton score, although the management of the conditions is similar.

But the Department of Health and Social Care said: 'There are no plans for a national service for diagnosis or treatment of hEDS and HSD.'

Unfortunately, one complicating factor is the misconception that hEDS is rare. 

Though 12 of the 13 types of EDS are rare [defined as fewer than five people in 10,000], they have reliable blood or saliva genetic tests and can be definitively diagnosed.

Punteha: I'd love to go to a supermarket, push Amelia on the swings or have a night out dancing with my ­husband. But all of that is impossible. My world has become small and I rarely go out

However there is no test for the final type, hEDS, which accounts for 90 per cent of all cases. It is ­diagnosed using a set criteria and the ­Beighton test — but some fear this can lead to missed cases.

As Dr Reinhold says: 'What's trying to be captured with the Beighton test is whether a person has general hypermobility — that is, across all four limbs and the spine.

'However, six of the nine points on this test are for the upper limbs — and a lot of 'bendiness' in hypermobile patients comes from the hip, pelvis and spine.

'People with hEDS often develop stiffness, too, which inexperienced doctors do not know to ask about and can lead them to incorrectly rule out hypermobility.'

Sarah Hamilton, the accessibility coordinator at the charity, ­echoes the frustration of patients like me, describing the Government's response to the charity's petition as 'disappointing'.

'The lack of care available, as well as the dismissal of patients, has resulted in unacceptable suffering, impacting not only their health, but their relationships, work and social lives.'

For me, had there been better recognition for the condition and I'd known I had hEDS earlier, I would have been protective of my joints, instead of pushing through repeated injuries following ill-advised physiotherapy regimens in the vain hope they would help.

Now, at 37, I cannot stand up long enough to boil the kettle, or walk more than 20ft without dislocating my pelvic joints.

I'd love to go to a supermarket, push Amelia on the swings or have a night out dancing with my ­husband. But all of that is impossible. My world has become small and I rarely go out.

For more information visit ehlers-danlos.org