Living with Ehlers-Danlos Syndrome

One of the world’s leading experts in Ehlers-Danlos Syndrome (EDS), Professor Rodney Grahame said “No other condition in the history of modern medicine, has been neglected in such a way as Ehlers-Danlos Syndrome”.

I have Ehlers-Danlos Syndrome, or EDS. I have had symptoms of EDS since the day I was born. It fundamentally affects every aspect of my life. I was diagnosed when I was 34.

EDS is a group of connective tissue disorders. In simplest terms, the glue that holds our body together doesn’t work properly. There are several different types of EDS and, irrespective of the type, symptoms range from being life changing, to life limiting, to life threatening.

Without a diagnosis

I grew up certain in the knowledge that I was lazy, clumsy and anxious. I assumed pain and difficulty was the norm, and everyone else experienced the same. On a daily basis I deal with excruciating pain, difficulties walking, joint dislocations, digestive issues, anxiety, bruising, poor healing, chronic fatigue, depression, bladder issues, dizziness, amongst many, many other symptoms.

Throughout my life, I have seen hundreds of medical professionals and had masses of tests – but nothing was ever found to be ‘wrong’.

“Nothing was ever found to be ‘wrong’.”

I will never forget reading about EDS for the first time – it was like reading my life story. Having found no answers in Scotland, and determined not to give up, I was forced to go to London to see EDS specialist, Professor Rodney Grahame. I was diagnosed within half an hour of meeting him. He said: “It must be really hard managing all this with two small children’. I cried with relief.

Misinformation is rife

There is a huge lack of awareness of EDS in Scotland, and perhaps even worse a massive amount of misinformation. There are currently no specialists in the condition. Parents whose children are awaiting diagnosis are being accused of abuse or of having Munchausen’s by proxy syndrome. Patients are being misdiagnosed or dismissed entirely; and many are made to believe they are hypochondriacs, or that they suffer from a mental health disorder.

In a recent survey of those with EDS in Scotland, these are only a few of the statements made to patients by medical professionals”

“Hypermobility EDS is generally mild and only causes pain after exercise.”

“If you had EDS, dislocations wouldn’t hurt.”

“If you have EDS you shouldn’t exercise.”

All of these statements are factually incorrect. Misinformation on EDS is rife.

The same survey found that the average length of time between first symptoms and diagnosis for a patient with EDS is 19 years. This not only means 19 years of uncertainty and pain, but 19 years of strain on NHS resources as these patients are passed from clinician to clinician without an accurate diagnosis.

Accessing treatment

Unfortunately diagnosis isn’t the only obstacle for people with EDS. Had I been in London I could have accessed a specialist hypermobility unit. In Scotland however, EDS patients are most often left to manage on their own. As a result symptoms often increase in severity creating permanent damage and compromising mental health. One of the hardest parts of my work supporting those with EDS is having to explain over and over, that services are very limited, help is difficult to find and, more often than not, patients will have to manage on their own.

EDS is complex and can result in serious complications; heart defects, arthritis; other organ issues along with numerous associated conditions. Incorrect management of any of these symptoms and conditions can potentially have disastrous effects on a patient.

“One of the hardest parts of my work supporting those with EDS is having to explain over and over, that services are very limited, help is difficult to find and, more often than not, patients will have to manage on their own.”

Had EDS been picked up when I was a teen, and adequate management put in place, we could have prevented the majority of my pain today. Life wouldn’t be a daily struggle.

We urgently need a patient care pathway for EDS. I totally understand that not everyone can be experts. But a patient care pathway would give medical staff the knowledge to put adequate management in place. This would improve quality of life and prevent complications.

The topic tonight is research. And EDS research is essential to help better understand and manage the condition. Of the different types of EDS, we still don’t know the gene or genes that cause the most common type. Why does EDS flare with hormones? Why do so many other conditions co-morbidly exist with EDS? We need answers to these questions.

I am certainly not the worst off. There are others with EDS who are hospital-bound, unable to walk, and fed from feeding tubes.

I met with a recently diagnosed 15 year old girl last week. During the hour I was with her she struggled to sit up, couldn’t maintain a conversation due to overwhelming pain and her joints visibly popped in and out as she shifted in her seat. Both her specialist and her GP told her she had to manage it herself. She’s 15!

How MSPs can help patients

Good management of EDS is entirely possible. We just need to dispel myths, provide accurate information and train medical staff to be aware of the potential for multi-system disorders.

As EDS Ambassador Lara Bloom says: “Geography should not determine a person’s quality of life.” Diagnosis should be swift, and no one should be left to manage their condition on their own.

We can fix this. MSPs please, I implore you – get involved in the Cross Party Group for Rare Diseases. Help me to get a Patient care pathway in place. Put me in front of doctors, nurses, physiotherapists, students so that I can share accurate information and we can work together to make this better. Yes, those with Rare Diseases are not the majority, but we do exist. And we’re really, really hurting. Please, we need your help.


Rebecca Holmes is the Edinburgh Area Coordinator for Ehlers Danlos Support UK. Rebecca has Ehlers-Danlos Syndrome (EDS), a multi-systemic inherited connective tissue disorder. As part of EDS UK, Rebecca runs local support groups for those affected by EDS. She also works as part of an action group to lobby for greater awareness of EDS and increased care provision for those who suffer from EDS.

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