Amelia up and about in Germany after surgery. Photo / Supplied
By Venetia Sherson of RNZ
As her daughter got sicker and sicker, Maddy Turner’s quest for answers dragged on. Now she has them.
For almost six months as she camped next to her daughter’s hospital bed listening to her moaning in pain, her left leg twisted and immobile, Maddy Turner kept one image firmly in her mind.
It was of 14-year-old Amelia walking on a beach, scuffing her feet in the sand. Amelia loves the beach and spent many summers at her grandfather’s house in Whitianga.
But as she lay in bed at Waikato Hospital, wraith-like, unable to eat or walk and doubled up with pain despite the heaviest medication staff could administer, that image seemed increasingly unlikely. Doctors had told Maddy they had run out of options. It appeared she would be confined to a wheelchair, she would always be fed through a tube that bypassed her digestive system and have to live with crippling pain.
The likely outcome was that her digestive system would eventually close down.
Maddy and her husband Joe refused to accept that prognosis. They set out on a quest for answers.
They found them in Germany.
The story began in May last year when Amelia contracted Covid and developed acute chest pains. Fearing she had heart issues, Maddy took her to Waikato Hospital multiple times. She was diagnosed with costochondritis (inflammation of the cartilage that connects a rib to the breastbone), a condition that mimics a heart attack.
The day after she was admitted, Amelia lost the ability to swallow. Pills, food and even sips of water felt like they were stuck. When tests showed there were no physical impediments, she was diagnosed with Arfid (an eating disorder in which a patient has a fear of eating). She was given a nasal gastric feeding tube and referred to a mental health service to address food aversion.
Maddy says that was ludicrous. “I knew she was not avoiding food. It wasn’t anxiety causing the problems. She was anxious because she couldn’t eat not because she didn’t want to eat.”
Frustrated by the lack of answers and the suggestion her daughter’s condition was a mental health issue, she began to research other causes.
She learned of another girl who had similar symptoms caused by abdominal vascular compressions (AVCS), in which veins or arteries are compressed by surrounding structures causing severe pain. The condition is sometimes, but not always, a result of connective tissue disorders such as Ehlers-Danlos syndrome (EDS) and Hypermobility Spectrum Disorder.
She and Joe decided to pay for further tests. They booked a private scan that confirmed what they had suspected. Amelia had Superior Mesenteric Artery Syndrome (SMAS), in which the duodenum is compressed, Nutcracker syndrome (NCS) in which the left renal vein is compressed, and May Thurner syndromes, where the left iliac vein is compressed.
On December 31, Amelia was again admitted to Waikato Hospital. It was hoped a different tube that fed directly into her small intestine, bypassing the compression of the duodenum, would alleviate her pain and help her gain weight. Establishing a fat pad would also increase the narrowed angle of the vessels, easing the compression of the bowel, allowing food to pass through and normal blood flow to resume.
The plan didn’t work. The pain continued despite medications that Maddy says “would have knocked an elephant out”. Amelia’s weight dropped alarmingly. A central line was inserted that delivered nutrients directly to her heart.
Maddy grew increasingly alarmed. She knew from her research there were no other options for treatment in New Zealand. While she speaks highly of Amelia’s medical team, she says they were limited in what they could do.
“They had done everything to keep her weight and nutrition stable and her pain under control, but that was where it stopped.”
The alternative was to travel overseas for surgery. Given Amelia’s complexities, the best option was Germany, where two doctors specialised in diagnosing and treating abdominal vascular compressions. The cost of travel and treatment was a daunting $200,000.
A spokesman for the Vascular Society of Aotearoa says: “Surgery for compression syndrome in patients with HEDS is not well established in vascular surgical literature and there is not enough scientific evidence to support to provide safe and clear guidelines.”
It adds that Health NZ Te Whatu Ora has plans to form a multi-disciplinary team of different specialists, “not just vascular and radiology. As of today, the group has not formally met”.
Maddy says the decision to travel to Europe for treatment was a huge leap of faith and took its toll on the family. But she was encouraged by other families who shared their experiences.
“As Joe said, ‘if we do nothing, nothing is going to change. You have to hold on to hope’.”
On July 25, weighed down with more than 70kg of medical supplies, Maddy, Joe and Amelia boarded a plane to Germany.
Their first stop was a clinic in Leipzig where Thomas Scholbach, a professor of paediatrics at the University of Dresden, runs a private practice for functional ultrasound diagnostics, using software that accurately assesses vascular compression syndromes. Scholbach has been diagnosing patients with AVCS since the early 1990s.
Three hours of scans confirmed Amelia had severe pelvic congestion causing enlarged veins because her blood could no longer get to where it was supposed to go. Her left iliac vein was completely obstructed, restricting blood flow back to her heart; collateral blood flow (where new circulation pathways are formed to get around blockages) had caused spinal congestion, and there was pressure on her sciatic and lumbar nerves.
Maddy felt validated.
“I knew she had compressions. I didn’t realise they were so bad. I also knew in my gut her leg issues were related to what was going on in her gut. To know that all of her complex health issues were directly related and we might be able to see improvement with surgery once the blood flow was corrected, gave us so much hope.”
Filled with optimism, the family travelled to Dusseldorf for surgery.
While they were buoyed by the test results that confirmed the underlying cause of Amelia’s condition, they knew the operation was complex and not without risk. They were exhausted from long-distance travel, trying to navigate public transport systems with a sick child, a wheelchair and a lot of luggage.
On the day of the operation, she held her daughter’s hand tightly. Amelia was distrustful of doctors and carried fear and trauma from past experiences. She was scared of experiencing more pain.
“I knew she would be frightened and clam up when I wasn’t around,” Maddy says.
After a nine-hour surgery, Maddy saw her daughter in the recovery room.
“She looked like a corpse, so pale and thin.”
However, surgeon professor Wilhelm Sandmann reassured them the operation had been successful.
Five days after the operation, Joe said to Maddy, “Look at her leg.”
It was lying straight on the bed.
For months Amelia’s left leg had been frozen in an internally rotated position, paralysed from the hip. She had drop foot, a condition in which the front of the foot drags on the ground.
Her foot was now lying flat. There was no internal hip rotation, no discolouration and no pain.
The following day, Amelia stood for the first time since January.
The same day she began swallowing her medication, eating small mouthfuls of yoghurt, pureed baby food and a single raspberry.
The next night she managed three mouthfuls of cheesy pasta.
“That may not seem such a big deal to people,” Maddy says. ”But she hadn’t swallowed anything for 18 months.”
There were other things. “For the 150 days she was in hospital, she was like a toddler, needing help with every bodily function,” Maddy says. “For a teenager who needed her privacy, that was such a cruel thing.”
Her daughter was returning to health in front of her eyes.
She could now take herself to the bathroom. Within days, she began walking laps of the ward. Her TPN (an intravenous system that provides nutrition directly into the bloodstream, bypassing the digestive system) was removed. When asked about her pain level, she answered “three”. It had not been below eight for months.
On August 30, she walked out of the clinic, returned to her mother’s apartment in Dusseldorf and ordered a burger for dinner.
Wilhelm Sandmann, the vascular surgeon who carried out the operation, is used to people asking him when he will retire. He is 82 years old.
“I will, at some time,” he says. In the meantime, he continues to operate at his clinic in Dusseldorf and train other surgeons in vascular science.
It frustrates him that some still question his treatment of the patients with compression syndromes who arrive at his clinic in pain and despair, after months and sometimes years of being told there is nothing further that can be done for them.
“Articles have appeared around me that could have been devastating, including one published in Der Spiegel following the death of a patient who died from other causes. But my education in surgical practice and science have kept me stimulated to continue helping patients and teaching colleagues.”
He believes his results speak for themselves.
“The success of surgical decompression surgery in relation to symptomology, pain, nutrition intake and neurological disorders cannot be ignored.”
He first became interested in AVCS during the 1980s, when he says he saw the field was not covered, abandoned or ignored.
“I have seen young people suffering from compression syndromes who were unable to lead normal lives. It touched me deeply.”
He began working with Scholbach 10 years ago, “because we had patients in common”.
In the past decade, he has treated 293 patients with compression disorder syndromes, including 35 from New Zealand.
He says surgery can be complex “but that does not mean it can’t be learned”.
“There are more than 20 different treatment techniques. For the majority, I use ring-enforced tube grafts made from PTFE (polytetrafluoroethylene), which are wrapped around the vein [some describe it as like scaffolding] restoring normal blood flow.”
The grafts are sutured in place “so they will stay in place if a patient wants to go horse riding, dancing or surfing. Ten patients have given birth without any complications”.
He says post-operation, Amelia’s recovery was “normal”.
“It’s what I would expect when normal blood flow is restored.”
Follow-up scans by Scholbach confirmed there were no compressions and Amelia’s digestive system was functioning again.
“After the operation, she was completely changed. She was still incredulous and intimidated, but she was already smiling, and above all, she could walk and eat without pain, giving her a completely new outlook on the future,” says Scholbach.
Sandmann cautions that while surgical intervention could be transformational, it is not a complete cure.
“Physiotherapy is needed to train and stabilise the muscles that control the spine. Exercises are essential because the underlying disorder is HEDS [Hypermobile Ehlers-Danson Syndrome/ HSD (Hypermobility Spectrum Disorder].”
“We are only at the start of what is going to be a very long, slow recovery,” Maddy says.
That will involve months of intensive physiotherapy and health check-ups.
Maddy is grateful that Waikato Hospital doctors supported the family’s decision to go to Germany and offered full support on their return no matter what the outcome of surgery was.
She plans to use her experience to try to bring about changes in the health system so other patients can be offered the treatment the family received.
“If our health system cannot offer surgical treatment and has no other options, they need to support families to get help overseas.”
Amelia is reconnecting with friends, having sleepovers and will return to school next year.
At Labour weekend she plans to walk on the beach at Whitianga, scuffing her feet in the sand.
“I never tire of watching her eat,” Maddy says. “When I look at her, I am so grateful to see, very slowly, our girl is coming back.”
– RNZ