A 33-year-old woman from Auckland, New Zealand, died due to a rare genetic disorder called Ehlers-Danlos syndrome (EDS). Stephanie Aston’s experience was challenging as some healthcare professionals did not take her condition seriously and thought her illness was imaginary.
Comprising 13 different variants, Ehlers-Danlos syndrome affects the body’s connective tissue, earning it the nickname “invisible disease.”
What is EDS?
This term is appropriate because people with EDS may appear healthy on the outside, even though they experience painful symptoms such as severe migraines, joint dislocations, easy bruising, abdominal pain, iron deficiency, fainting spells, and abnormal heart rate.
Aston’s difficult journey began in 2016, when a doctor did not take her symptoms seriously, making her think her struggles were all in her mind.
But her determination to find answers led her to three specialists who, after careful examination, confirmed that she had EDS, a genetic disorder that affects connective tissue.
Kelly McQuinlan, founder of Ehlers-Danlos Syndromes New Zealand, expressed regret that the medical community’s approach to EDS has remained largely unchanged since 2018.
Aston’s passing has deeply affected the EDS community, leaving many unsure and concerned about their medical care.
On Facebook, McQuinlan paid tribute to Aston, portraying her as a guiding light for those facing the disease.
He emphasized the unfortunate truth that health care providers question or doubt the diagnosis of many people with rare or hidden diseases.
The prognosis for people with EDS differs depending on their specific subtype, and the National Institutes of Health recognizes 13 subtypes.
McQuinlan stressed the importance of effectively managing symptoms, stressing that neglecting proper care could have serious consequences.
In 2017, McQuinlan and Aston collaborated to establish a non-profit charity advocating for systemic changes within the healthcare system.
McQuinlan told The NZ Herald that the legacy of people like Aston would continue to drive his efforts as he aims to ensure conditions like EDS are no longer overlooked, thus preventing avoidable tragedies.
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