How an estate gift is supporting the next generation of researchers working to advance our knowledge of rare genetic diseases
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 including geneticists was able to pin-point the cause of her differences. “Eventually one of the doctors at the child development centre 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 experienced bladder problems as a child because she had a congenitally small bladder capacity and a short, wide urethra leading to troublesome incontinence. She had surgery at age 13 to partially correct this problem. She required regular bladder stretching from a pediatric urologist. At one of those events, he discovered that she had developed interstitial cystitis. Later through research in the US, it was discovered that patients with her condition could have severe food sensitivities that accompanied the cystitis. When they published a diet for the condition, Evelyn realized that Mary-Jane had already limited her diet to be completely in line with what was published, somehow on instinct.
Extraordinary in everyday life
Mary-Jane graduated from Kitsilano Secondary in Vancouver through strong effort and a prodigious memory. After high school graduation, Mary-Jane undertook internships and training towards full time employment, but she encountered increasing health issues, the most prominent and problematic of which was chronic nerve pain, especially in her hands and feet. This unpredictable and often debilitating pain, coupled with her serious food sensitivities, meant that Mary-Jane simply wasn’t able to manage full time employment. And still, no answers were forthcoming.
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. Following those classes, she would go to a local coffee shop where they also became friends: they’d start preparing her tea and steamed milk substitute as soon as they saw her. She was a favourite at her local church, volunteering and helping in every way she could. People invested in Mary-Jane because she was interested in them, too. And she thrived in her independence, managing well on her own due to learning about household responsibilities from a very young age. “She wasn’t afraid to try anything,” remembers Evelyn proudly. “And she loved public transit, taking it all over the Lower Mainland when she felt well enough.”
A long search for answers
Evelyn and Mary-Jane continued their search for answers, seeing endocrinologists, pain specialists, neurologists, allergists and more. None of them was able 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. She told her mother she could feel that her left foot was becoming affected in the same ways as her right one. “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. I’d like it to be called the Mary-Jane Carroll Syndrome.”
At the time, Evelyn had laughed. She promised to get the genetic testing done, but teased Mary-Jane that the naming was out of her scope of abilities.
Unfortunately, Mary-Jane’s innate sense about her future was correct. During the surgery, she developed dangerously low blood pressure, and later, when on the ward, felt dizzy and nauseous. 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, which had to be sent to a lab in Europe. 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.
The Mary-Jane Carroll Trainee Award at UBC
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.
Evelyn feels strongly that study of medical genetics is the path forward to treatment of many conditions, not just Mary-Jane’s. “It’s a wonderful way to help future generations,” she says.
“I hope that not only will it 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 Carroll
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.”
To learn more about supporting the UBC Department of Medical Genetics, please contact Leanne Denis at leanne.denis@ubc.ca