Lives are being torn apart by undiagnosed hypermobility and the consequences of this systemic issue are nothing short of devastating. Recent correspondence from individuals affected by hypermobile Ehlers-Danlos syndrome (hEDS) paints a stark picture, with sufferers waiting up to 21 years for a diagnosis and facing catastrophic impacts on their lives.
One individual's story is a heart-wrenching example of the profound effects of delayed diagnosis. A 34-year-old former drama student found her life 'dismantled' by hEDS, which began affecting her at just 19. She has undergone multiple surgeries and received diagnoses including thyroid cancer and Hashimoto's. Despite having a high Beighton score, a common assessment for hypermobility, she struggles with chronic pain and fatigue on a daily basis. Basic activities like reading or watching TV have been impossible, and she has even experienced periods where she struggled to speak and spell due to her unstable nervous system.
The current situation is characterised by patients being forced to seek answers outside of the NHS, often at significant financial cost. One individual shared that their diagnoses came from private specialists in England, not through NHS Scotland, costing their parents thousands of pounds. This raises concerns about those without the means to access private care. Furthermore, despite clear symptoms, the NHS reportedly did not suggest testing for common co-morbidities such as postural orthostatic tachycardia syndrome (POTS) or mast cell activation syndrome (MCAS). A staggering 94.4% of hEDS patients endure psychiatric misdiagnosis before receiving an accurate diagnosis.
Experts warn that the current situation represents only the 'tip of the iceberg', with an estimated one in 227 people in the UK affected by hEDS – and 95% remaining undiagnosed. Research indicates that hEDS imposes a disability burden comparable to multiple sclerosis, yet it receives a mere fraction of the funding. The situation is particularly acute for women, who account for 90% of cases and face diagnostic delays averaging 15 years, alongside a concerning 17.8% suicide-attempt rate.
Another correspondent described their daughter's ongoing struggle with hEDS, despite receiving a diagnosis. The 34-year-old remains in constant pain, managing her condition through diet, exercise, supplements, and extended periods of rest. Her diagnosis was not accompanied by a comprehensive treatment plan, leaving her life frequently 'at a standstill'. These accounts underscore the urgent need for a formal review and immediate investment in dedicated research and treatment pathways within the NHS to prevent further lives from being ruined.