A 33-year-old woman has died at her home in Auckland, New Zealand from a rare disorder after being told by a doctor that her illness was “all in her head.”
Stephanie Aston sadly lost her long and public battle with Ehlers-Danlos Syndrome (EDS) on September 1.
EDS is a rare genetic disorder affecting the body’s connective tissue and there are 13 different variants of the condition.
It’s also often referred to as an “invisible disease” because sufferers can appear healthy despite experiencing excruciating symptoms which include severe migraines, dislocating joints, easy bruising, abdominal pain, iron deficiency, fainting and an abnormally fast heart-rate.
Aston revealed that in 2016 her symptoms had been dismissed by a doctor who thought the debilitating illness she experienced existed only in her imagination.
Aston was diagnosed by three specialists with EDS, a genetic connective tissue disorder.
But one Auckland Hospital doctor, whom she refers to using the pseudonyms, “Doctor A”, suggested she was not seriously unwell and indicated she was causing her illnesses, The NZ Herald reports.
Ehlers-Danlos Syndromes New Zealand founder Kelly McQuinlan said not much has changed since 2018, but Aston’s death has shaken the EDS community.
“A lot of people are feeling very lost,” she said.
“I think most people in these rare positions or invisible illnesses, definitely experience setbacks and disbelieving because things can’t be seen but really the clinical symptoms are there that are being ignored.”
McQuinlan described Aston as a “beacon” for those with the illness in a tribute to her on Facebook.
“Most people in our community have experienced some form of sort of doctors not believing them or questioning their diagnosis which is extremely hard,” she wrote.
“When they see someone in their community pass away, the first thing they think is ‘What if my care is not looked after? What’s going to happen to me?’”
The outcome for individuals with EDS depends on the specific type they have, the National Institutes of Health has classified 13 subtypes of EDS.
“At the end of the day, if symptoms aren’t managed correctly, anyone can get sick enough that they will pass away.”
McQuinlan and Aston helped create the non-profit charity back in 2017, and McQuinlan said her legacy will continue to live on through the advocacy efforts they make to help enable systemic change within our failing health system.
“Our condition is ignored for far too long and then sometimes that impact is permanent,” she said.