Stephanie Aston, a 33-year-old woman from Auckland, New Zealand, sadly lost her life to Ehlers-Danlos Syndrome (EDS), a rare genetic disorder that is often misunderstood by the medical community. Throughout her journey, Aston faced skepticism from healthcare professionals who dismissed her symptoms as being “all in her head.”
Ehlers-Danlos Syndrome is characterized by its 13 distinct variants, and it primarily affects the body’s connective tissue. This has led to it being referred to as an “invisible disease” since individuals with EDS can outwardly appear healthy, despite experiencing debilitating symptoms such as severe migraines, joint dislocations, easy bruising, abdominal pain, iron deficiency, fainting spells, and abnormal heart rates.
Aston’s ordeal began in 2016 when a doctor disregarded her symptoms, leaving her feeling as though she was imagining her battle with the disease. However, her determination led her to seek answers from three specialists who eventually confirmed her diagnosis of EDS.
Kelly McQuinlan, the founder of Ehlers-Danlos Syndromes New Zealand, expressed her frustration that the medical community has not made significant progress in understanding and treating EDS since 2018. Aston’s death has left the EDS community feeling shaken and concerned about their own healthcare experiences.
McQuinlan paid tribute to Aston on social media, describing her as a beacon of hope for others facing the illness. She also highlighted the unfortunate reality that individuals with rare or invisible illnesses often face disbelief or scrutiny from medical professionals.
Although the prognosis for individuals with EDS varies depending on the subtype they have, it is crucial to effectively manage symptoms. Neglecting proper care can have dire consequences. According to the National Institutes of Health, there are 13 recognized subtypes of EDS.
In collaboration with Aston, McQuinlan established a non-profit charity in 2017 that aimed to advocate for systemic changes within the healthcare system. McQuinlan emphasized that Aston’s legacy and the experiences of individuals like her would continue to inspire their efforts. They strive to ensure that conditions like EDS are no longer ignored, thus preventing avoidable tragedies.
– Ehlers-Danlos Syndromes New Zealand (Kelly McQuinlan)
– The NZ Herald