In her early twenties Maureen Sharphouse’s joints were so bendy she got a job as a magician’s assistant, effortlessly folding herself inside boxes for tricks on stage.

‘I was literally the woman “sawn” in half on stage, with my legs crammed inside up over my body, I was just so flexible,’ says Maureen, 67, a life coach who lives in Kinross-shire, Scotland, with her husband Peter, 75, a semi-retired businessman (they have five children between them from previous relationships).

‘At school I was great at sports and dancing and could easily do the splits.’

But there were also some worrying health issues. ‘I remember my knee joint popping out multiple times on the sports field,’ says Maureen.

There was also the frequent joint pain, occasional dislocations, loss of balance and co-ordination, pins and needles and slurred speech.

What she couldn’t know was that these were all signs of a medical condition that, as she puts it, ‘was to eventually dominate my whole life’.

But it would be another 35 years before she found out – in June 2023 – what that condition was, after countless visits to countless doctors: Ehlers Danlos syndrome.

EDS is a genetic condition that affects one in 500 people (even this may be an underestimate), as the varied symptoms mean it can often be missed or misdiagnosed.

EDS affects connective tissue all over the body, including the joints, heart, and digestive tract. There are 13 types; Maureen has many of the symptoms of hypermobility EDS, the most common type, which include loose, unstable joints that dislocate easily, joint pain, fatigue, digestive problems and dizziness.

There is no test for EDS, a doctor makes a diagnosis based on symptoms and examination.

Maureen says: ‘Whilst I felt relieved finally to have the answer, I also felt let down – why had none of the multiple doctors I’d seen over 35 years joined up the dots?’

Maureen’s tale is far from an isolated one, according to Forgotten Patients, Overlooked Diseases, a charity launched in May to raise awareness of patients who fall through the gaps, are misdiagnosed or left without a diagnosis for years on end.

‘This remains a largely ignored and under-researched area,’ says Dr Adrian Tookman, joint chair of the charity and a former medical director and palliative care consultant at the Royal Free Hospital and the Marie Curie Hospice in Hampstead, north London.

‘This is despite the large number of individuals believed to be affected and the huge sums of money wasted on the wrong treatments and investigations.

‘Healthcare professionals feel frustrated at not being able to reach a diagnosis, while patients can feel lost, overlooked and forgotten in the health system.’

The charity’s focus is on supporting patients and helping them get a diagnosis.

‘We want to find solutions, not blame doctors,’ he says.

Many of these patients are classed as having ‘medically unexplained symptoms’ (MUS) – and, when they are finally diagnosed correctly, it turns out they have diseases that are either uncommon, or unusual symptoms of more common diseases.

MUS is a huge problem – patients so-labelled take more sick leave, have higher rates of unemployment and account for 10 per cent of NHS expenditure on adults in England, according to a review published in BMJ Open in 2022 – with one in four frequent hospital attenders classed as having MUS.

Dr Tookman says the charity was founded after he noticed that female patients referred to him with complex and unexplained pain symptoms (because of his expertise in pain), actually had undiagnosed EDS. Yet they were being wrongly told they had eating disorders such as bulimia.

This is because gastroparesis – or vomiting, bloating and tummy pain – is a common sign of EDS because of its effect on connective tissue in the digestive tract.

At a multi-disciplinary meeting to discuss a patient’s case, he noticed some young women in the waiting room with scars on their forearms from previous suicide attempts. ‘I could tell these scars were stretchy – in other words there was something wrong with the collagen holding them together, and you see that with EDS.

‘I mentioned this to the psychiatrist, and he said he had often wondered if there was an underlying physical cause for vomiting disorders.

‘Thankfully, the patient was discharged from the eating disorders unit and received treatment for her EDS instead. How many others may have been misdiagnosed like this we don’t know.’

Other patients who tend to end up with an MUS label are those affected by the estimated 7,000 rare diseases – those that affect fewer than one in 2,000 people.

Dr Minha Rajput-Ray, a medical doctor and osteopath who sits on the committee of the new charity, says: ‘Doctors find it hard to say, “I don’t really know what’s wrong with you but let me go away and find out”.’

The typical patient she sees in her Aberdeen clinic has chronic pain and fatigue conditions such as fibromyalgia, ME, long Covid, EDS and Lyme disease, an infection caught from an infected tick.

‘These patients find themselves suffering from symptoms that nobody can really figure out,’ says Dr Rajput-Ray.

A patient referred to Dr Tookman had spent ‘a long time’ getting a diagnosis of Klippel Trenaunay Weber Syndrome, a genetic syndrome that causes enlarged legs, varicose veins and a port wine stain birth mark.

‘Luckily, we were able to treat her with drugs to control her symptoms. No clinician I have ever spoken to had heard of it and that’s the problem – there are 7,000 rare diseases and some we don’t even know exist.’

‘Giving people incorrect labels is clearly dangerous,’ he says.

Another issue hampering rare disease diagnosis and treatment, he says, is the rise in specialisation in hospital medicine over the past 20 years, which means doctors have the in-depth knowledge of their specialty, but not such broad knowledge.

From her early teens, Maureen suffered intermittent joint pain which her GP blamed on ‘growing pains’. By her twenties, she was suffering frequent joint dislocations and when she was 30, she began stumbling as her joints ‘seemed unstable’. She was prone to falls and sprains and was regularly covered in bruises.

‘I’d have to go to bed to rest on Sunday afternoons as my joints were aching and so painful.’

In her late thirties, she also developed back pain, dizziness, nerve spasms and heart palpitations – and a rheumatologist diagnosed three conditions: fibromyalgia (a chronic pain condition), Raynaud’s syndrome (which affects circulation, causing cold hands and feet) and Sjogren’s ­syndrome (an autoimmune condition that affects parts of the body that produce fluids, such as saliva).

Her GP disagreed and sent her to a neurologist, who diagnosed multiple sclerosis – despite a brain scan showing no sign of it.

It was a label that stuck with her for the next 15 years.

Her ill health eventually cost her job in property management and it took a heavy toll on her relationship with her first husband (with whom she has two children) and social life.

‘I went through some dark times,’ she says. ‘I felt really frustrated that no one seemed to know what was wrong. No doctor ever listened to my whole story or thought outside the box and their particular specialty.’

Her symptoms intensified until 2022 when on a trip to the US for surgery she paid for to address thoracic outlet syndrome: compression of nerves and blood vessels in the chest – a doctor mentioned this was often due to a connective tissue disorder.

Researching this she discovered EDS – and her diagnosis was confirmed by a private doctor.

‘He said he was sure I had it within five minutes of talking to me and couldn’t see how it had been missed.’

Although Maureen still struggles with EDS symptoms, ‘getting a diagnosis has made me feel validated,’ she says. ‘It’s just a shame it took the best part of 40 years to get there.’

• forgottenpatients.org