Ian Gillies first started feeling unwell in the summer of 2023.
By August, the 22-year-old Memorial University linguistics student struggled to climb a set of stairs during a birthday outing to a Gowan concert.
His father, Ian Gillies Sr., an employee at the Queen Elizabeth II Library, says photos from that night showed his son’s face swollen and round.
“I had no energy at all,” said Ian Jr. “I live in a basement apartment in our house and I had to move back up because I couldn’t get up the stairs.”
Over the next few months, his condition worsened. Pain prevented him from sleeping more than an hour at a time, leaving him to pace the floors all night.
Continual decline
Despite repeated trips to the hospital, Ian’s bloodwork initially showed nothing unusual.
That changed suddenly after blood test results received by his family doctor showed that his hemoglobin had dropped to critically low levels.
He was told to go to the ER immediately, where a physician would be waiting to admit him.
In the hospital, tests continued daily for the next six weeks, as doctors and staff tried to figure out what was causing his continued decline.
He had gained approximately 30 kilograms of fluid, which caused difficulty breathing and required as many as five drains at once to help remove it.
A bone-marrow biopsy indicated he was not producing bone marrow or red blood cells.
“Once admitted I would stay with him in the day, and his mom, who had travelled back to the province from her home in New Brunswick, would stay with him at night,” said Ian Sr. “When I would go home in the evening, they would tell me, ‘We don’t know if he’s going to make it through the night.’”
Eureka moment
As a first-year internal medicine resident on Ian Jr.’s team, Dr. Steven Rowe (B.Sc.(Pharm.)’18, MD’22) watched him get sicker and sicker.
“I read around his chart for hours,” he said, ” and then I started looking for possibilities that could explain his story. I was lying in bed late one night and I had a eureka moment when I read about a disease called TAFRO. Everything I read matched Mr. Gillies exactly.”
Coincidentally, Ian Jr.’s mother, who had been researching his symptoms independently, reached the same conclusion that night.
TAFRO is an acronym of the symptoms of a rare subtype of Castleman disease, a systemic inflammatory disorder that can be fatal if not treated.
It is characterized by thrombocytopenia (low platelets), anasarca (widespread edema), fever, renal dysfunction (kidney failure) and organomegaly (swelling of the spleen and liver).
“When you’ve never seen a particular rare disease before . . . it’s nearly impossible to put it together.”
It had never been diagnosed in Atlantic Canada previously.
Dr. Luke Chen, a Dalhousie University hematologist recently recruited from the University of British Columbia, was contacted to help with the diagnosis.
He leads the Coastal Rare Inflammatory Diseases Program and fields weekly calls from physicians from around the world who are struggling to diagnose and treat rare illnesses.
Dr. Chen worked with Dr. Rowe and Ian Jr.’s hematologist, Dr. Neal Manning, to confirm the diagnosis of TAFRO and start the appropriate therapy.
“We don’t want physicians dealing with a patient with a rare disease to feel like they are alone,” said Dr. Chen. “With this case, all the materials were already sitting in the lab. They just needed someone to help them connect the dots. But when you’ve never seen a particular rare disease before, and you don’t have personal experience with it, it’s nearly impossible to put it together.”
Raising awareness
Ian Jr. showed improvement almost immediately when he began treatment for TAFRO.
In short order, he was released from the hospital, but he continues regular treatment.
He’s completely asymptomatic now, almost two years later.
“He’s living his life,” said Dr. Rowe. “He’s back to university and he can walk again. This disease has close to a 50 per cent mortality rate, but he now has his whole life ahead of him.”
Encouraged by Ian Jr. and his family, who wanted more doctors to become aware of the disease, Dr. Rowe wrote a case report.
The Canadian Medical Association Journal pubished the report in November 2024.
“It was a bad experience,” said Ian Jr. “I wanted to help with anything that can stop other people from having that same experience.”
International collaboration
Not content to merely spread the word about TAFRO, Dr. Rowe sought a better means of diagnosis.
He reached out to Dr. Chen, who connected with the University of Pennsylvania’s Dr. David Fajgenbaum, the lead of the Castleman Disease Collaborative Network.
Dr. Rowe was then tasked as the lead author on a collaborative research project involving Memorial, Dalhousie, the University of British Columbia and the University of Pennsylvania.
They identified simple markers of inflammation (C-reactive protein, ferritin and soluble interleukin-2 receptor) in the blood that could be tested for at any medical laboratory and provide rapid results that help distinguish TAFRO from other inflammatory conditions.
The American Journal of Haematology published those results, which are expected to influence international diagnostic guidelines for TAFRO.
‘Relentless’ drive
Dr. Chen says the project is “very clinically impactful” and that he’s spoken at a number of conferences where people have been very excited about the findings.
“This is real, practical, bench-to-bedside science,” he said. “It also turns out this “rare” condition is not so rare. We’ve since identified many cases of TAFRO in Atlantic Canada in the past two years. We just didn’t recognize them in Newfoundland and Labrador before Dr. Rowe came along.
“We talk a lot about the importance of research and quality improvement in medical school, but I have not seen such a relentless drive towards improving patient care in a tangible way as he has done in the past two years, all during a busy clinical residency.”
You can listen to the Canadian Rheumatology podcast to hear Dr. Rowe talk more about this case.
