Two mothers who have successfully obtained treatment for their daughters’ hypermobile Ehlers Danlos Syndrome (EDS) and Abdominal Vascular Compression Syndromes (AVCS) are now devoting their time to advocating for others navigating the path to diagnosis.

Hamilton mum Rachel Mckenna took her daughter, Jemima, to Germany for surgery because she was suffering multiple AVCS caused by the genetic condition EDS.

She was one of the only patients to receive funding for the overseas surgery from the New Zealand high-cost treatment pool.

This surgery no longer qualifies for funding from the pool after a 2023 review, led by the Northern Region Clinical Practice Committee, deemed it “could not be reasonably described as a well-established treatment with proven efficacy in clinical trials or proven efficacy in regular practice.”

Both Ms Mckenna and Christchurch mum Zalie Doyle disagree with this reasoning, having spent years researching international treatment options and supporting successful case studies - including their daughters who having gone from bedridden and malnourished to “thriving” after surgery.

Whether or not the surgery becomes available in New Zealand, they say there needs to be an easier path to diagnosis and treatment options for those with EDS and multiple AVCS.

Recently patients have been told that they cannot access scans to diagnose AVCS in New Zealand unless they pay for them privately, and there are no surgical treatment options available, which leaves those without the ability to self-finance, with no diagnosis or treatment for the potentially life-threatening conditions.

The pair have compiled a collection of information and international medical research on diagnosis and treatment, which is available to any interested parties.

Ms Mckenna ran a poll on the support group Facebook page she runs with Mrs Doyle and found 20 of their members are in the process of seeking overseas treatment.

She found only one person had been diagnosed in under 12 months, many wait years for diagnosis.

All responders to the poll said they had been traumatised by misdiagnosis before being correctly diagnosed. In New Zealand diagnosis alone does not offer patients any help beyond knowing what is wrong with them, unless they can then pay to travel overseas at their own expense for surgery.

“Typically, these girls are hypermobile which lends itself to having talent in sports, dancing and gymnastics. Many are also performing highly academically before they become unwell.

“The severity can come on suddenly, affecting bladders, bowels, eating and drinking and reducing quality of life significantly,” she said.

It is a difficult condition to diagnose, made more so when many girls are refused tests or misdiagnosed with eating disorders, endometriosis and appendicitis.

Ms Mckenna said the access to diagnosis was important, so people had time and support to plan access to expensive treatment options.

“In some cases, if you can’t self-fund and lack treatment options here, your life is potentially at risk. People do die from these conditions. Many do not have the ability or community to fundraise,” she said.

“The scans alone needed for diagnosis, hospitals are now telling patients they have to be sourced privately and can cost well over $5000, plus the cost for private specialist consultations.

“For the treatment, it costs far above $100,000, closer to $200,000 not to mention the costs post-surgery of rehabilitation.”

“I know my daughter was incredibly lucky. There’s no pathway for people to get the surgery here.

“These patients also need access to nutrition to keep themselves alive while they fundraise for surgery and to prevent significant weight loss and malnutrition but are being denied nutritional interventions.”

Mrs Doyle faced a lot of scepticism from medical professionals and people close to her before taking her daughter, Taylor, overseas, seeking surgeries in both Australia and Germany.

“I had no guarantees. We took a leap of faith and did something we know was incredibly risky and hoped it would help her. We had no other options.”

“I knew what would happen if I did nothing,” she said.

Her daughter’s health has improved drastically, and she has been able to move out of home and is studying engineering.

She said the country is in a waiting game until the data catches up with reality.

“I’ve done four-to-five years of advocacy in this space. These people want the help and support – but they are being denied and declined.”

“This condition isn’t as rare as they think. Underdiagnosis is what makes it rare,” she said.

In the meantime, there is a long fight for anyone trying to achieve diagnosis for EDS and AVCS.

“What results from misdiagnosis is trauma. The medical trauma that comes through can be more damaging than the conditions themselves.”

She said she had encountered many nursing staff, doctors, radiologists who were engaged and wanting to help, but were restricted in what they could advise.

“Some doctors who are trying to help us are getting vilified and silenced – that's what scares me.”