Rare diseases: evidence to improve care for children and their families
By Ashley Janna and Sarah Larrigan
Special Guest Writers
Ashley Janna and Sarah Larrigan are 4th year Faculty of Medicine students in the Honours Bachelor of Science Program in Translational and Molecular Medicine. They wrote this story originally for their Science Communications course as part of a series profiling researchers at the Faculty of Medicine. MedPoint will be publishing profiles from this series throughout 2019 .
Imagine that you are a pediatrician. Your new young patient and their family require care and advice for managing the child’s recently diagnosed chronic disease. One problem: you’ve never seen or heard of this disease before and it’s hard to find reliable evidence about treatments.
Diagnosing and treating any disease is seldom easy, however rare diseases have an extra challenge in that they are, well, rare. With so few known cases, it becomes very difficult to perform studies to understand how to diagnose and treat these patients in the same way we would for more common diseases.
These diseases not only confront the patients and their caretakers, but when considering the many different cases that exist, they collectively have an impact on our health care system.
At the Faculty of Medicine’s School of Epidemiology and Public Health, associate professor Dr. Beth Potter and her research team, which includes PhD student Kylie Tingley are working on finding solutions for treating children with rare diseases.
Dr. Potter is a co-founder of the Canadian Inherited Metabolic Diseases Research Network. This network aims to pool together the resources of several researchers and pediatric centres in order to reach and study more children with rare inherited metabolic diseases. When asked what attracted her to pursuing a career in research focused on rare diseases, Dr. Potter notes that this is an area where there is a strong need for new evidence to inform care of children and their families. She also replies, “It’s challenging, and as a researcher, you gravitate towards challenging problems to solve.”
Tingley, one of Dr. Potter’s PhD students, joined her research team as a Master’s student, and subsequently transferred into the PhD program. When reflecting on what brought her to research, Kylie explains that her interest in human health initially led her to pursue an undergraduate degree in biology.
“Then, I got into research,” she says. “And I really liked the challenges that come along with it.”
Recently, Dr. Potter and Tingley published a study in which they identify the difficulties associated with generating evidence for treatment of rare diseases, and ways of mitigating these problems. A big part of this work involved understanding the perspectives of various groups involved with rare diseases.
To achieve this, they used a unique research method: combining a thorough review of research articles concerning rare diseases with the findings from interviews that they conducted not only with policy advisors and physicians, but also with patients and their families.
“I think that the take-home message is that there are lots of proposed solutions for doing better research for rare diseases, and one really big part of that is incorporating multiple perspectives to make sure that the evidence that we’re generating is meaningful to everyone,” says Tingley.
“Ultimately, what we're trying to do is improve care for patients and their families, and so we need to know right from the outset what their priorities are,” she added.
From their findings, Dr. Potter’s team is looking forward to developing a set of guidelines, or a framework, around how we can better evaluate the evidence for rare disease treatments in a way that is meaningful to all these groups. The research team considers the opportunity to make a difference in these patients’ lives very rewarding.
Given the clinical implications of their research, Dr. Potter and her students collaborate regularly with clinician researchers from The Ottawa Hospital and the Children’s Hospital of Eastern Ontario (CHEO). “I love the connection between the University and the research institutes,” states Dr. Potter when asked about what she enjoys about working in the Faculty of Medicine, where she has over a decade of experience.
The Science Communications course is designed and taught by Dr. Kristin Baetz, director of the Ottawa Institute of Systems Biology and professor in the Department of Biochemistry, Microbiology and Immunology, to foster in students the ability to convey complex science to a lay audience – an essential skill when making presentations, applying for grants, composing abstracts for research papers and generally communicating one’s work in the biomedical sciences.