33-year-old woman dies from rare disorder. Doctors had told her it was 'all in her head'

A doctor told the woman that she was fine and it was 'all in her head'. (Representational)

A 33-year-old resident of Auckland, New Zealand, has tragically lost her life to Ehlers-Danlos Syndrome (EDS), a rare and often misunderstood genetic disorder. Stephanie Aston's journey was marked by medical skepticism and the alleged dismissive attitude of some healthcare professionals who believed her ailment was “all in her head”.

Ehlers-Danlos Syndrome, with its 13 distinct variants, attacks the body's connective tissue, earning it the moniker of an "invisible disease." This term is aptly coined, as individuals grappling with EDS can outwardly appear healthy, despite enduring excruciating symptoms that include severe migraines, dislocated joints, easy bruising, abdominal pain, iron deficiency, fainting spells, and a heart rate that races abnormally.

Aston's ordeal began in 2016 when a doctor dismissed her symptoms, leaving her to believe that her battle was a figment of her imagination. However, her relentless pursuit of answers led her to three specialists who, after thorough examination, confirmed her diagnosis of EDS, a genetic connective tissue disorder.

Kelly McQuinlan, the founder of Ehlers-Danlos Syndromes New Zealand, lamented that not much has changed in the medical community's approach to EDS since 2018. Aston's death has sent shockwaves through the EDS community, leaving many feeling adrift and apprehensive about their own care.

McQuinlan, paying tribute to Aston on Facebook, described her as a "beacon" for those grappling with the illness. She highlighted the unfortunate reality that many individuals with rare or invisible illnesses face, with their diagnoses often questioned or disbelieved by medical professionals.

The prognosis for those with EDS varies based on the specific subtype they have, with the National Institutes of Health recognizing 13 subtypes. McQuinlan stressed the importance of managing symptoms effectively, underscoring that neglecting proper care could lead to dire consequences.

Together, McQuinlan and Aston had worked to establish a non-profit charity in 2017, advocating for systemic changes within the healthcare system. McQuinlan told The NZ Herald that the legacy of individuals like Aston would continue to drive their efforts, striving to ensure that conditions like EDS are no longer ignored, preventing avoidable tragedies.