Evelyn Carroll knew her daughter was different from the first time she laid eyes on her, minutes after her birth. But just how she was different remained a mystery until several weeks after Mary-Jane passed away unexpectedly in August 2022, at just 52 years old.
Mary-Jane’s condition affected her in myriad ways: she had trouble feeding as an infant, and she was slower to master tasks and reach milestones. Her eyesight was poor, and she spoke slowly. Despite regular medical assessments, coupled with therapy that helped Mary-Jane to manage her challenges, no one was able to pin-point the cause of her differences. “Eventually one of her doctors told us that, even if she has anomalies, just manage them and address other problems as they occur. Otherwise treat her as a normal child,” said Evelyn. “So we did.”
Mary-Jane graduated from Kitsilano Secondary in Vancouver through strong effort and a prodigious memory. After high school graduation, Mary-Jane undertook internships, but she encountered increasing health issues that meant she simply wasn’t able to manage full time employment.
If she was extraordinary in medical ways, she was extraordinary in everyday life as well. Mary-Jane was very social and made many friends throughout her life, some of whom dated back to her earliest years. Mary-Jane’s emotional intelligence and her great sense of people served her very well—when she moved into an apartment on her own, she got to know many of her neighbours over time and the many staff and volunteers at the downtown YWCA, where she took classes. She was also a very active member of Christ Church Cathedral.
Evelyn and Mary-Jane continued their search for answers, but were unable to find a cause for her health concerns. “It was almost worse than the symptoms,” reflected Evelyn. “The not knowing. There were so many appointments and so many tests, and without a diagnosis, we felt unvalidated. Living with her conditions and not knowing why was very difficult.”
It was Mary-Jane herself who, with a great deal of reading and research, told her mother the cause of her health issues. “I know I have a genetic condition,” she said to her mother in 2022. Mary-Jane had been suffering from pain and lack of mobility in her right foot, and they were preparing for surgery to correct it. “Promise me that if something happens in surgery, you’ll do all the new genetic testing they can do now, and get it written up. They should name it the Mary-Jane Carroll Syndrome.” At the time, Evelyn had laughed and promised to get the genetic testing done.
Unfortunately, Mary-Jane’s innate sense about her future was correct. During the surgery, she developed dangerously low blood pressure, and during the first night after the surgery, she suffered heart failure and never regained consciousness, passing away shortly after in the ICU.
Evelyn kept her promise. While Mary-Jane was in the ICU, she persuaded the doctors to take a full range of genetic tests. And, six weeks later, they had an answer: a very newly found genetic variant ZMIZ1, and Mary-Jane became patient number 35 worldwide identified with the syndrome in fall of 2022.
After Mary-Jane’s death, Evelyn and her husband Max knew that the proceeds of Mary-Jane’s estate and condo sale could be used to help Mary-Jane’s memory live on. After some discussion with UBC’s Department of Medical Genetics, the Mary-Jane Carroll Trainee Award was established at UBC to support the next generation of researchers working to advance our knowledge of rare genetic diseases.
“I hope they will not only help find the causes for many conditions, but will improve how we can diagnose them and treat them, everything from the lab to clinic and beyond. It’ll help people like Mary-Jane living their everyday lives, and ensure they don’t have to live, as we did, with so much uncertainty and so many unknowns.”
Evelyn knows that Mary-Jane would be thrilled that, through the trainee award, her name will be on the research that’s made possible. And because of that, Evelyn has found that establishing the award has been healing for her. “Mary-Jane’s father Max died within a year of her, and with all the loss it’s been enormously helpful to have something positive to focus on,” she says. Evelyn’s experience has led to a gift in her own will, directing further support to the award so that research can continue. “I am sure the trainee award will have an enormously positive impact on training and treatment,” she says. “Just like Mary-Jane did, on so many people she met, throughout her life.”
