How a first-year resident at St. John’s helped solve a medical mystery, and didn’t stop there

Ian Gillies Sr. still can’t look at photos taken during his son’s two-month stint at the Health Sciences Center in St. John’s.

It is enough for him to remember what happened, and for now – he is trying to look ahead.

“We’ve been through a lot of bad times and it really gives you a different perspective,” he said.

That hell started in the summer of 2023. Ian Gillies Jr. recently graduated from the College of the North Atlantic. But the energy you’d expect from a 22-year-old wasn’t there: Gillies Jr. felt so tired that he eventually couldn’t climb the stairs in the house he shares with his father in Conception Bay South.

As the weeks went on, “It got to the point where I was bringing him to the doctor in a wheelchair,” Gillies Sr. said.

In addition to constipation, Gillies Jr. was also suffering from bloating, and he spent hours in the hot tub to relieve the pain associated with it. “It would be like a hot compress,” he recalls.

Things changed one day in October when his family doctor called with new test results and advised him to go to the emergency room immediately. At the time, Gillies Jr. had gained approximately 60 pounds in the previous month, due to fluid retention in his body.

stumping the experts

“Obviously, everyone knew something was seriously wrong,” Gillies Sr. said.

At the hospital, the family kept an eye on Gillies Jr.’s charts, and “every day we watched the numbers go down, and down, and down,” Gillies Sr. said.

Medical experts ruled out cancer, infection, and common autoimmune disorders. They removed several liters of fluid that was accumulating around his abdomen – about 15 two-litre milk cartons over a few weeks – and Gillies Sr. remembers helping his son to the bathroom amid a tangle of wires and tubes.

But Gillies Jr. doesn’t remember much.

“The whole time was spent in the same bed, in the same room, with the same people. So it all blends together,” he said.

Despite that haziness, one trend was clear: A month into the mystery, Gillies Jr.’s condition was worsening.

“(Doctors) were telling us he wasn’t going to make it through the night,” Gillies Sr. said.

“And then a savior came.”

‘Kind of idiot’

That savior came on Monday. Although to be fair, the Savior had actually started work the night before and had stayed up late to go over his new case files. He was a first-year internal medicine resident from Memorial University and was coming in for his first shift on a rotation.

“You don’t want to come up empty-handed in the morning without knowing anything about your patient,” said Dr. Steven Rowe.

By that time Gillies Jr.’s file was troubling: low blood counts, swollen lymph nodes, an enlarged spleen and failing kidneys. His breathing was labored and he needed 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 the time to do so.

“Anybody who is very ill, there’s a lot of pressure on them and a lot of desire to find out what’s going on and help them,” Rowe said. “But I think it’s even more so when you have a very young person.”

Rowe put in extra hours in her spare time, studying literature and doing research – in her words, “being kind of a nerd.”

It paid off for him one night around 11 p.m., when he started reading about a rare subtype of Castleman disease called Taffro syndrome.

Rowe said, “It was exactly what was going on with Ian… it really fit like a glove.”

The resident got up from the bed and began writing down his thoughts, disturbing his tired girlfriend.

“I said, you guessed it, this is a eureka moment,” Rowe said, laughing.

The next morning, Rowe explained his thoughts to his superiors, and the medical team took it to the family – where, coincidentally, Gillies Jr.’s mother had also become suspicious of Castleman.

Gillies Sr. recalled, “He came in at eight in the morning, and he burst down the door with like curiosity and joy… He says, ‘I found it.’

“Everything changed that day.”

First diagnosis in NL

Both Castleman and its subtype TAFRO are rare diseases. TAFRO was first identified in 2010, and occurs in one in every million people. Gillies Jr. was the first recognized case of its kind in Newfoundland and Labrador, Rowe says, one reason the medical team hadn’t noticed it before.

“You almost never see it, even though people know to look for it,” Rowe said.

As the family and the St. John’s medical team contacted Canadian and global experts to formally diagnose him, everyone realized Gillies Jr. was in danger.

With TAFRO, “suddenly, your immune system starts attacking your body as if your body is a threat,” Rowe said. “And essentially your immune system starts destroying all your organs, which sounds bad. And it is.”

Untreated, TAFRO has about a 30 percent mortality rate, Rowe said. Fortunately, Gillies Jr. responded to a new treatment, the drug siltuximab, which is given intravenously.

The family got relief by being cautious. “Where it was something new and something rare … I was very apprehensive. You know what? I think I’m still the same,” Gillies Sr. said.

But Gillies Jr. stabilized, and was eventually discharged in time to celebrate Christmas at home. Since then, she is given blood tests at regular intervals and then injections of siltuximab. There are some disruptions to his schedule as he tries to pursue a new university degree amid his new normal, but he says it’s worth it to remain symptom-free and healthy.

“It’s crazy, but I’m good. I’m glad it’s away,” Gillies Jr. said.

the breakthrough

Neither Gillies nor Rowe wanted others to repeat the experience. The family contacted Rowe with a request: Could something be done to help others quickly, to spread the word about Castleman and Tafro?

With Gillies’ blessing, Rowe, along with some colleagues, wrote a case report, which was published in the Canadian Medical Association Journal, the country’s leading medical journal.

As Rowe researched that report, a pattern caught her attention: Each of the Taffro syndrome patients she looked at had very similar blood tests. “Could this be something that actually helps diagnose the disease early?” He said.

Working with colleagues, and under the supervision of a Canadian expert in the field, Dr. Luke Chen – who is from Dalhousie University and who consulted on Gillies Jr.’s case – Rowe set out to find out.

He cold-emailed the Medical School of the University of Pennsylvania — home of the Ivy League school, Castleman expert Dr. David Fajgenbaum, who also consulted on Gillies Jr.’s diagnosis — and gained access to their TAFRO patient database.

Chen shared his database of patients in the same area as Castleman battling another rare blood disease, called HLH. Both of these diseases are known as “cytokine storm syndromes,” a phrase that came to mind during the COVID-19 pandemic, but importantly, HLH and TAFRO require very different treatments.

Rowe, and “people smarter than me who are good at numbers,” he said, began comparing the two sets of patients. It became clear that with a simple blood test “that any rural hospital or small community clinic in Newfoundland would have access to, you could actually tell the difference between TAFRO syndrome and this HLH disease with almost 99 percent certainty,” he said.

“This was a really important discovery … and I think it’s going to be quite impactful in the way we diagnose these diseases in people,” Chen said.

A large part of that importance depends on speed. “These patients often don’t have time,” Rowe said. “And what I mean by that is they’re racing against time and their organs are shutting down.”

Rowe said using this simple blood test to distinguish between the two diseases could help find a diagnosis within a day or two, rather than a week or two.

‘A complete life’

That speed could help save lives.

“Every province, every major city has the medications that we use to treat TAFRO… It’s just a tragedy when someone suffers or dies, and the treatment that will help them recover is literally sitting right there in the pharmacy, right?” Chen said.

“We just have to link them to the right diagnosis, and thus to the right treatment.”

The resulting study was published in the American Journal of Hematology, a top journal of its kind, and Rowe was listed as a lead author. This 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 between 400 and 600.

“So, it’s great for an intern at Memorial to be the lead author on a project like this,” he said, adding that he has heard from experts as far away as Beijing that they are excited by the findings.

Chen and Rowe are now working together on several rare disease projects.

Amidst the accolades, Rowe looked back at that first case of Gillies Jr.

“I think making the extra effort and reading all night and night and not letting it go,” he said, “after arriving at a diagnosis where you can get a treatment that works really well — that’s pretty profound.”

And Gillies Jr. and his family will never forget those efforts.

“I went from nothing to a perfect life.”

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