■Whakatāne’s Rachel Weatherly has watched her life disintegrate. She is a shadow of her former self, living with extreme pain, unable to keep down enough food to maintain weight, and mostly housebound aside from medical appointments. In this two-part feature, the 22-year-old, who is fundraising for overseas surgery, talks to Beacon reporter Alisha McLennan about her battles with the health system for diagnosis and recognition of her debilitating symptoms.

Three years ago, Rachel Weatherly was 19 and in the United States on a football scholarship, studying Health & Human Performance with a 4.0 grade point average.

She was a top player on her college team, training daily, building muscle and gaining weight.

Then, in April-May of her first year, she started vomiting – with the vomiting continuing beyond the duration of a typical stomach bug.

She went to the hospital where she received her first misdiagnosis – the first in what would be a string of misdiagnosis before finally being officially diagnosed last month with Ehlers-Danlos Syndrome.

She was told by the hospital that she simply had a stomach infection, but her health did not improve, despite taking the prescribed antibiotics.

“From there, I was just trying to survive until I got back to New Zealand,” she said.

Scheduled for a trip home over summer, Ms Weatherly tried her luck with Whakatāne’s healthcare system. She was referred to a private gastroenterologist who diagnosed her with gastritis.

Returning to America with a new plan of antacids and nausea medication, Miss Weatherly played another season of soccer in Georgia despite her health, performing so well on the field that she was offered a place on the women’s team at Felician University the following year.

She returned to New Zealand that summer to see the same gastroenterologist and was misdiagnosed with Crohn’s disease.

With the new information, and Felician University offering to defer her placement a year, Miss Weatherly decided to take a year off for treatment.

After no improvement during the year, she lost her placement on the New York football team, and the high costs related to private specialists forced the family into the public system to find answers.

She underwent various testing and at one point was accused of having ARFID (avoidant/restrictive food intake disorder) before seeing a psychologist.

She was briefly placed in a watch room during her admission.

“I thought I was being placed to get help, but it didn’t start out that way,” she said.

She was questioned about her eating habits and was treated as if she had an eating disorder.

“I was lucky I was of age and could advocate for myself. Other girls like me have been locked in the psych ward for weeks.”

She was misdiagnosed with a second eating disorder during this admission.

Although debilitated, Miss Weatherly never stopped looking to the future. Needing a new career path, she began studying to become an electrician.

She was accepted after application deadlines because of her good grades, and despite “pretty much vomiting 24/7” in the last month of her course, she still finished second in the class.

“I tried to get help twice at Tauranga hospital A&E during this time, but they did nothing. Over time, I slowly figured out how much my body would tolerate before triggering the vomiting. This left me so far from reaching my nutritional needs, but at least small amounts were staying down.”

She is looking forward to completing an apprenticeship but cannot do so until her health improves.

She also tried her best to manage a season of football with the Tauranga Football Club because she “didn’t want to drop out of football and let her health take any more away me”.

“I was supposed to start getting back to normal last year,” she said.

Around November last year, with still no answers after years of debilitating symptoms and becoming less and less able to digest food, she began doing her own research.

She found out about abdominal vascular compressions and how rare the condition was. Although there were some similarities between the symptoms listed and her own, she tried not to entertain the thought.

“I kept putting it off, I thought it was too rare, there was no way,” she said.

When she reached out to the NZ – Abdominal Vascular Compression Syndrome Support Facebook group, she started receiving support to work towards a diagnosis.

“It was the only way I would’ve got my diagnosis,” she said of the support team she found through New Zealand’s AVCS advocates.

“Stories like theirs helped me figure out this was a common experience in New Zealand,” she said.

She found several girls with similar stories to hers, all who have had to fight to be recognised, and then fundraise for overseas treatment.

At hospitals and medical appointments when she brought up her concerns, she was told of “risks of over-investigation” and had doctors walk out on her.

Her parents accompanied her to most appointments, and she said her dad, Peter Weatherly, was not taken seriously if he raised his voice “a bit too loud”.

“I needed them for appointments, or I won’t get listened to,” Miss Weatherly said.

Mr Weatherly said it was not until they switched medical practitioners that they were taken seriously.

“Rachel’s a fighter all the way to the end. She got to where we are now because she’s a strong girl,” he said.

Mr Weatherly fought to gain access to his daughter’s medical records and previous scans, in which they saw notes from doctors and radiologists about abnormalities that were not communicated to her, or ignored and not noted, including her distended stomach being in a much lower position than it should.

“Everyone told me it was normal,” she said.

“My stomach has literally sunken into my pelvis and is much larger than it should be. We showed these images to a private specialist who recommends this needs to be surgically fixed as well.

“Unfortunately, this is another surgery we will have to battle the public system for support in the future.”

They met with Waikato-based vascular surgeon Dr Chris Holdaway, who has worked with 139 patients with similar symptoms – patients who have similarly spent years being misdiagnosed and traumatised by the public system.

Dr Holdaway helped Miss Weatherly work towards an Ehlers-Danlos Syndrome diagnosis.

EDS is a connective tissue disorder that can lead to the compression of veins, arteries and organs (AVCS).

“He told us it was really something. It is rare, but it’s also highly underdiagnosed,” Miss Weatherly said.

In late May, after months of ticking boxes, Ms Weatherly and her dad met with a private rheumatologist in Auckland where she finally received confirmation of a hypermobile Ehlers Danlos Syndrome diagnosis. Originally, they had tried through the public system, but their specialist referral was declined.

Ehlers Danlos Syndrome, particularly the hypermobile type, has co-morbidity with AVCS and Postural Orthostatic Tachycardia Syndrome (POTS), which was immediately tested for when Ms Weatherly raised her concerns, along with orthostatic hypotension.

Surgeries to relieve AVCS are not available in New Zealand, so the family must look overseas for treatment.

They have had a Zoom call with a German surgeon, Dr Wilhelm Sandmann, who has performed several of these vascular surgeries.

Looking at Miss Weatherly’s scans, Dr Sandmann identified three compressions.

The first is Severe Nutcracker Syndrome, the complete compression of the left renal vein stopping blood flow between the left kidney and the heart – this blood is being redirected down two spinal veins and the left ovarian vein. This can cause a fluctuating heart rate and blood pressure, which Miss Weatherly noticed but was ignored by doctors when she raised the issue.

“Dr Holdaway actually rang us after this ultrasound and said this was one of the most severe cases of Nutcracker Syndrome he’s ever seen,” she said.

The second compression is Superior Mesenteric Artery Syndrome, a compression of the third portion of the duodenum between the abdominal aorta and the superior mesenteric artery. This can result in feeling full quickly after eating small amounts, nausea and vomiting, abdominal pain and weight loss.

“This one is positional, when I am lying flat food is moving through the compression. When I sit, some is getting through and some isn’t, and when I stand there’s hardly anything moving through, it’s going straight back into my stomach.” Miss Weatherly said.

He also found a compression called May Thurner Syndrome, where the iliac artery presses on the iliac vein, disrupting blood flow between the left leg and the heart.

“This isn’t as severe as it hasn’t completely blocked off blood flow, it is just having a difficult time passing though. This could progress over time and get worse. “Unfortunately, other sufferers lost the ability to walk and were wheelchair bound by the time they got overseas. We will be aiming to get surgery before that might happen.”

The specialist also diagnosed her with POTS and provided her with medication – something she has been asking doctors for, for the past year – and placed her on better Mast Cell Activation Syndrome (MCAS) medication to help her absorb nutrients so she can try to gain some weight before surgery.  

“It’s so validating,” Miss Weatherly said. “Holy heck, there is such a relief.

“I think part of the issue is many doctors aren’t educated on these rare conditions, so some just don’t know what to look for in testing. If they just listened to us when we tell them, they would know.”

“There are definitely good doctors out there; it’s just about finding the right ones which usually are in the private sector.”

Until her surgery, Miss Weatherly is continuing with tube feeding. She makes herself eat three snacks a day, mixing a formula drink into a popsicle or yogurt so her body stays used to digesting something. What she can tolerate varies from day to day.

Mr Weatherly said they have “been to hell and back”.

“This has destroyed her life,” he said.

The family has also been severely impacted with Mr Weatherly unable to return to full-time work because he needs to attend medical appointments, and her older sister, Nicole, leaving a marine biologist job in Australia to be closer to her sister when it became clear her health was not improving.

The family needs to raise $150,000 for overseas surgery, which is Miss Weatherly’s only chance at getting back to a normal standard of living.

Cars and the family caravan are up for sale, plans for moving house have been postponed indefinitely, and a Givealittle page has been set up.

Anyone wanting to support Rachel Weatherly can find out more information through her Givealittle page, please help rachel get another chance at life.

See Friday's Beacon for part two of this story where Alisha McLennan interviews Waikato-based vascular surgeon Chris Holdaway about Hypermobile Ehlers Danlos Syndrome and the trauma that can be involved in diagnosis, and two mothers who have become advocates for others in the wake of their daughters’ diagnoses and treatment.