Radio 3 presenter Hannah French experienced frequent, unexplained injuries in her early 20s, from dislocated knees and shoulders to a dislocated jaw from a sneeze. Her struggles, which led her to use a wheelchair by age 28, were eventually diagnosed as hypermobile Ehlers-Danlos Syndrome (EDS), a connective tissue disorder.
EDS is an umbrella term for 13 conditions affecting collagen, the protein that provides structure to the body's tissues. Hypermobile EDS, the most common type accounting for 90% of cases, causes joints to be excessively flexible because the ligaments meant to stabilize them are weaker than normal. This can lead to frequent injuries like sprains and dislocations.
The Diagnostic Challenge
New research indicates that individuals with hypermobile EDS face an average diagnostic wait of 21 years. Surveys of 2,000 affected individuals revealed that approximately 80% are women, and many report being initially dismissed by healthcare professionals as anxious, hysterical, or even hypochondriacs. Kathryn Berg, research manager at the University of Edinburgh's Institute of Genetics and Cancer, who co-led the study, noted that some patients were told their symptoms were due to stress.
Unlike rarer forms of EDS, such as vascular EDS which carries life-threatening risks from fragile blood vessels, hypermobile EDS does not have a genetic test. Diagnosis relies on a combination of factors including joint hypermobility, widespread chronic pain, and skin elasticity. However, these signs can be subtle or misinterpreted, particularly in older individuals, and awareness among healthcare providers is often low, with some medical students receiving minimal or no training on the condition.
Wide-Ranging Symptoms
The effects of hypermobile EDS extend beyond joint instability. Faulty collagen can impact various bodily systems. Some individuals experience gastrointestinal issues, such as constipation, due to laxity in the gut lining, or symptoms mimicking Irritable Bowel Syndrome (IBS). Bladder problems and Postural Orthostatic Tachycardia Syndrome (PoTS), characterized by a racing heart and dizziness upon standing due to loose blood vessel connective tissue, are also common. Hannah French reported experiencing a mixture of these gut symptoms, alongside chronic pain and fatigue, which she found difficult to manage.
The condition can also affect dental health; faulty collagen can alter jaw shape, leading to crowded teeth and a reduced effectiveness of local anesthetics. Hannah French recalled feeling her dental concerns were often dismissed. For many, like Hannah, the widespread and varied nature of symptoms led them to question their own health, fearing they might be hypochondriacs.
Adapting to Life with EDS
While a cure for hypermobile EDS does not exist, early diagnosis can enable management strategies, including physiotherapy to improve joint stability and address associated issues like bladder problems. Dietary changes can sometimes help with gastric symptoms. However, delayed diagnosis can make symptom management more challenging. Hannah French, diagnosed in 2010, had to give up her career as a flautist due to the physical demands and has adapted by using a wheelchair to prevent falls.
She manages her chronic pain with medication and coping strategies learned at a pain clinic. Pacing activities is crucial; even presenting for two consecutive nights led to a required recovery day in bed. French hopes that by raising awareness, her daughter, who may have inherited the condition, can receive an earlier diagnosis and better support than she did. Up to 300,000 people in the UK are estimated to have EDS, though the actual number may be higher due to underdiagnosis." image_url=" caption=Radio 3 presenter Hannah French has hypermobile Ehlers-Danlos Syndrome (EDS). She uses a wheelchair to avoid injury