Ian Gillies Sr. still can’t look at the pictures he took during his son’s two-month stint at the Health Sciences Centre in St. John’s.
Remembering what happened is enough for him, and for now — he’s trying looking ahead.
“We’ve been through hell and back, and it really gives you a different perspective,” he said.
That hell began in the summer of 2023. Ian Gillies Jr. had just graduated from the College of North Atlantic. But the energy you’d expect out of a 22-year-old wasn’t there: Gillies Jr. felt so drained he eventually couldn’t walk up the stairs in the house he shares with his dad in Conception Bay South.
As the weeks dragged on, “It got to the point where I was bringing him to the doctor in a wheelchair,” said Gillies Sr.
Along with constipation, Gillies Jr. was also bloating, and he spent hours in their hot tub trying to relieve the associated pain. “It would be like a warm compress,” he remembers.
Things changed one day in October when their family doctor called with new test results, and advised them to head to the emergency room immediately. At that point, Gillies Jr. had gained almost 60 pounds in the last month, as his body retained fluid.
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Stumping the experts
“Obviously, everybody knew that there was something seriously wrong,” said Gillies Sr.
In the hospital, the family kept tabs on Gillies Jr.’s charts, and “every day we’d look at the numbers going down, and down and down,” Gillies Sr. said.
The medical experts ruled out cancers, infections and common autoimmune disorders. They drained litres of the fluid that kept building up around his abdomen — about 15 two-litre milk cartons over a few weeks — and Gillies Sr. recalls helping his son to the bathroom amid his tangle of wires and tubes.
But Gillies Jr. doesn’t remember much at all.
“The whole time was spent in the same bed, in the same room, with the same people around. So it all just melds together,” he said.
Despite that blur, one trend was clear: one month into the mystery, Gillies Jr. was getting worse.
“[The doctors] were saying, telling us he might not make it through the night,” said Gillies Sr.
“And then a saviour came along.”
‘Kind of a nerd’
That saviour arrived on a Monday. Although to be fair, the saviour had actually begun work the night before, staying up late to pore over his new case files. He was a first-year internal medicine resident from Memorial University arriving for his first shift on the rotation.
“You don’t want to show up in the morning empty-handed not knowing anything about your patient,” said Dr. Steven Rowe.
Gillies Jr.’s file to that point was troubling: low blood counts, swollen lymph nodes, a swollen spleen and failing kidneys. His breathing was laboured, and he was in need of large amounts of oxygen. The medical team wanted to biopsy one of Gillies Jr.’s lymph nodes, but even though they were swollen, they were too small at that point to do so.
“With anybody that’s very sick, there’s a lot of pressure and a lot of drive to find out what’s going on and help them,” said Rowe. “But I think it feels even more magnified when you have a very young person.”
Rowe put in extra hours in his off time, combing through literature and researching — in his words, “being kind of a nerd.”
That paid off around 11 p.m. one night, when he started reading about a rare subtype of Castleman disease, called TAFRO syndrome.
“It really was exactly what was going on with Ian… it really just fit like a glove,” said Rowe.
The resident leapt out of bed and began writing out his thoughts, to the chagrin of his tired girlfriend.
“I said, you got to understand, this is a Eureka moment,” laughed Rowe.
The next morning, Rowe passed his thoughts by his superiors, and the medical team took it to the family — where coincidentally, Gillies Jr.’s mother had also begun suspecting Castleman.
“He was in at like eight in the morning, and he busted the door, like eager and happy… he goes, ‘I found it,'” recalled Gillies Sr.
“Everything changed that day.”
First diagnosis in N.L.
Both Castleman and its subtype TAFRO are rare diseases. TAFRO was only first identified in 2010, and it occurs in about one in every one million people. Gillies Jr. was the first such recognized case in Newfoundland and Labrador, says Rowe, one reason the medical team didn’t have it top of mind.
“You pretty much never see it, even if people did know to look for it,” said Rowe.
As the family and the St. John’s medical team connected with the Canadian and global experts to formally diagnose it, everyone realized the danger Gillies Jr. was in.
With TAFRO, “all of a sudden, your immune system starts attacking your body as if your body were a threat,” said Rowe. “And essentially your immune system starts to destroy all of your organs, which sounds bad. And it is. “
Untreated, TAFRO comes with roughly a 30 per cent mortality rate, Rowe said. Luckily, Gillies Jr. responded to a new treatment for it, the drug siltuximab, that’s given intravenously.
The family was relieved, if wary. “Where it was something new and something rare… I was very apprehensive. You know what? I think I still am,” said Gillies Sr.
But Gillies Jr. stabilized, and was eventually discharged in time to spend Christmas at home. Since then, he gets blood work and then infusions of siltuximab at regular intervals. There are some disruptions to his schedule as he tries to navigate pursuing a new university degree amid his new normal, but he says being asymptomatic and healthy is all worth it.
“It’s crazy, but I’m good. I’m glad it’s at bay,” said Gillies Jr.
The breakthrough
Neither the Gillies’ nor Rowe wanted others to repeat this experience. The family approached Rowe with a plea: could anything be done to get the word out about Castleman and TAFRO, to help others’ sooner?
With the Gillies’ blessing, Rowe wrote up a case report in conjunction with some colleagues, which was published in the leading medical journal of the country, the Canadian Medical Association Journal.
As Rowe researched that report, a pattern caught his eye: each of the TAFRO syndrome patients he looked at all shared very similar bloodwork. “Could this be something that actually helps diagnose the disease quicker?” he said.
Working with colleagues, and under the supervision of the Canadian expert in the field, Dr. Luke Chen — based out of Dalhousie University and who had consulted on Gillies Jr.’s case — Rowe began trying to figure that out.
He cold-emailed the University of Pennsylvania’s medical school — the Ivy League school home to the Castleman expert Dr. David Fajgenbaum, who had also consulted on Gillies Jr.’s diagnosis — and received access to their TAFRO patient database.
Chen shared his database of patients dealing with another rare blood disease in the same sphere as Castleman, called HLH. Both of these diseases are known as “cytokine storm syndromes,” a phrase that came to the public forefront during the COVID-19 pandemic, but crucially, HLH and TAFRO require very different treatments.
Rowe, and “smarter people than me who are good with numbers,” he said, began comparing the two sets of patients. It became clear that with a common blood test “that any rural hospital or small community clinic in Newfoundland would have access to, you can actually tell the difference between the TAFRO syndrome and this HLH disease with almost 99 per cent certainty,” he said.
“This was a really important finding… and I think it’s going to be quite influential in the way that people diagnose these diseases,” said Chen.
A big part of that importance comes down to speed. “These patients often really don’t have time,” said Rowe. “And what I mean by that is, that they’re racing against the clock with their organs failing.”
Rowe said using this simple blood test to distinguish between the two diseases could help pinpoint a diagnosis within one or two days, rather than one or two weeks.
‘A whole life’
That speed could help save lives.
“Every province, every major city has the medications we use to treat TAFRO… it’s just a tragedy when someone suffers or dies, and the treatment that will help turn them around is actually just sitting right there in the pharmacy, right?” said Chen.
“We just have to connect them to the right diagnosis, and thereby to the correct treatment.”
The resulting study was published in a top journal of its kind, the American Journal of Hematology, and listed Rowe as a lead author. It was a collaboration that included Memorial and Dalhousie Universities, the University of British Columbia and the University of Pennsylvania.
For context, Chen said UPenn is a top five medical research institution in the world, while Dal and MUN rank somewhere between 400 to 600.
“So, it’s pretty good for a trainee from Memorial to be the lead author on a project like that,” he said, adding he’s heard from experts as far away as Beijing excited by the findings.
Chen and Rowe are now working closely on a number of rare disease projects.
Amid the accolades, Rowe has looked back on that first case, with Gillies Jr.
“I feel that kind of going the extra mile, and just spending night after night reading and not letting it go,” he said, “having arrived at a diagnosis where you could get a treatment that works really well — it’s just profound.”
And Gillies Jr. and his family won’t ever forget those efforts.
“I went from nothing, to a whole life.”
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