Radio host Hannah French endured years of unexplained injuries, from dislocated joints to debilitating pain, before finally receiving a diagnosis of hypermobile Ehlers-Danlos Syndrome (hEDS) at age 28. Her experience highlights a common struggle for those with the condition, who often face lengthy delays in diagnosis and are frequently mislabeled as anxious or hysterical.
Ehlers-Danlos syndromes (EDS) encompass a group of 13 genetic connective tissue disorders characterized by faulty collagen, the protein that provides structure to the body's tissues. Hypermobile EDS (hEDS), the most prevalent form accounting for 90 percent of cases, leads to excessively flexible joints and fragile connective tissues. This can result in frequent injuries, such as sprains, dislocations, and chronic pain, which may not be directly caused by trauma but by the central nervous system's response to the body's unpredictable instability.
Research indicates that individuals with hEDS wait an average of 21 years for a diagnosis. A study surveying 2,000 affected individuals found that approximately 80 percent are women, and many report being dismissed by medical professionals, being told they were simply anxious, stressed, or even hypochondriacs.
The symptoms of hEDS can be wide-ranging and seemingly unrelated due to the widespread nature of connective tissue. Beyond joint hypermobility and pain, individuals may experience gastrointestinal issues like irritable bowel syndrome (IBS), bladder problems, and postural orthostatic tachycardia syndrome (PoTS), a condition causing a rapid heart rate and dizziness upon standing. Some may also have fragile skin or dental issues, such as crowded teeth, as collagen affects jaw structure. For some, local anesthetics may be less effective due to the nature of connective tissue.
Unlike some rarer forms of EDS, such as vascular EDS, there is no genetic test for hEDS. Diagnosis relies on clinical signs including joint hypermobility, widespread chronic pain, and skin extensibility. However, identifying these signs can be challenging, particularly in older individuals, and awareness among healthcare professionals remains low. Some medical training programs reportedly dedicate minimal time to the condition.
French's journey illustrates the diagnostic challenges. Initially told her issues were isolated to her knee, she underwent surgery that provided no relief. It was only when a rheumatologist recognized her broader range of movement and medical history that she received her hEDS diagnosis. This diagnosis, while not a cure, allowed her to adapt. She now uses a wheelchair to prevent further injuries and has learned pain management strategies.
Early diagnosis and intervention, including physiotherapy and dietary changes for related issues, can help manage symptoms and improve quality of life. The longer a person goes without support, the more challenging it can be to address their symptoms effectively. French, who had to give up her career as a flautist due to the physical demands, now hopes that increased awareness will lead to earlier diagnoses for others, including her own daughter, who may have inherited the condition.
The Ehlers-Danlos Society notes that EDS and hEDS are among the least understood conditions. The condition often runs in families, with many relatives of diagnosed individuals having lived with undiagnosed chronic pain and fatigue for years.