New Zealanders suffering from an “invisible” illness are saying enough is enough following the death of a “beacon” in their community.

Stephanie Aston, 33, died at her Auckland home on September 1. Aston fought a bravely public fight against Ehlers-Danlos syndrome (EDS) after being told she was faking her symptoms by doctors.

Norma Hockenhull met Aston in 2017 after she was also diagnosed with EDS, a genetic connective tissue disorder, and said she quickly became the big sister she never had.

“I looked up to her. Despite how serious her illness was, she always took the time to reach out to me and ask how I was coping,” Hockenhull told the Herald.

 “It has been a silent struggle for so many of us and, with Steph’s passing, I think so many of us are ready to fight. It’s what she would’ve wanted.”

Hockenhull wants to follow in Aston’s footsteps and support newly diagnosed and younger EDS patients to navigate the system.

“I was a child when my family started searching for answers if I had been diagnosed earlier maybe I wouldn’t have been suffering as much if I had known how to care and advocate for myself.”

Norma Hockenhull met Aston in 2017 after she was also diagnosed with EDS. Photo / Supplied

Aston’s fight against EDS was “relentless”, according to Hockenhull, who said she was taken aback by how pale Aston looked when they first met.

 “I knew she struggled with severe anaemia for many years and often struggled to receive the blood transfusions she desperately needed. The doctor in question had accused her of intentionally draining her blood to alter her blood counts.”

The Herald first wrote about Aston in 2018, after she spoke out when she was told the debilitating illness she experienced existed in her head by health professionals.

“There are no words to accurately describe how I felt watching this all unfold,” Hockenhull said. “You are never prepared to see someone you care about die, especially at such a young age.

“Steph was an accomplished young woman who had her whole life in front of her. With early intervention and a comprehensive medical team, I believe she would still be here. She would’ve had a chance.”

Stephanie Aston was sectioned under the Mental Health Act for refusing treatment. She said she only refused care from a certain doctor. Photo / Supplied

Hockenhull was diagnosed with EDS at 19, but first showed signs as a toddler and was misdiagnosed as juvenile arthritis and then growing pains.

“I was 18 when I went to my GP and demanded to be referred to a specialist as there was no way it was normal to be in pain 24/7 and have my shoulder dislocated by sneezing.”

Despite her diagnosis, she was later told she was wasting medical professionals’ time and was told she was faking her illness because she would not dislocate her shoulder on command.

Having trouble digesting liquids and solids, Hockenhull’s weight dropped critically low earlier this year, at almost 178cm tall, she only weighed 46kg.

“I was told by my specialist that I was critical and needed intervention else I would be at risk of death.”

Despite this, Hockenhull was referred to a health psychologist who implied her issues were due to an eating disorder.

But one surgeon fought for Hockenhull and placed a stent in her stomach to help her digest food, which led to the discovery that she also had Pyloric Stenosis which was impacting her food digestion.

 “I had a procedure in February this year to fix this issue and it has been successful, I have been able to be active again and I have gained some weight back all because one doctor gave me a chance.”

In 2018, the Herald published a series of stories about four women who had struggled to get diagnosis and treatment for Ehlers-Danlos.

Aston was diagnosed by three specialists with EDS, a genetic connective tissue disorder. But one Auckland Hospital doctor, whom the Herald agreed to call Doctor A, suggested she was not seriously unwell and indicated she was causing her illnesses.

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.

“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.

“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 of EDS 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.”

Women’s Health Action general manager Isis McKay said it’s not uncommon for her to hear about the dismissal of women’s pain.

“You need to relax; it is probably just stress; you need to lose weight; it is just for attention; you are being dramatic.

“These are just a few of the things that [we] hear from wāhine who have been made to feel their genuine health concerns are just a figment of their imagination.”

McKay said it’s not just health professionals who dismiss women’s health, it is family, friends and co-workers offering up their ‘expert’ opinions

“Sadly, we still live in a society where many women are viewed as irrational and hysterical.

“Navigating complex health issues can be extremely challenging for the person experiencing it and those providing care.”

Fatigue of compassion for unwell people can get in the way of pursuing answers to complex health conditions, Mckay said.