The project explored the experiences of caregivers and highlighted both the challenges they face and the sources of strength that help families navigate their journeys.
For Karen Kelm, President and CEO of Fragile X Canada, who brings more than 20 years of lived experience with Fragile X, the project offered an opportunity to explore what different rare disease communities may have in common.
“I came to PaCER with more than 20 years of lived experience in Fragile X and with a growing awareness that, while every rare disease is unique, there are many common experiences across rare disease communities,” Karen says.
That question became particularly meaningful as the cohort listened to caregivers describe their experiences.
Roberta Webster, from Ontario, joined PaCER with a background in market research and analytics, as well as her own experience as a rare disease parent. She wanted to find a way to bring those experiences together and contribute meaningfully to rare disease research.
“I knew I wanted to be more involved in rare disease and patient research but I wasn’t really sure how to find my place in that space,” Roberta says.
Through the project, she found that connection was one of the most striking themes.
“The diagnoses and circumstances may differ, but there were so many common threads in what families had experienced.”
For Jessica Head, an Alberta-based parent of a child with a rare disease, joining PaCER was an opportunity to better understand research and explore how families could contribute in meaningful ways.
“As the parent of a daughter with a rare disease, I know what it’s like to spend years searching for answers, learning a new language of healthcare and research, and trying to advocate for your child while simply trying to be their parent,” Jessica says.
“I wanted to build the skills to help bridge the gap between researchers and the families they hope to serve.”
Asking Different Questions
One of the cohort’s most important insights came from considering not only what researchers study, but who is asking the questions.
“There is an enormous body of research describing caregiver burden, stress, uncertainty, resilience, and unmet needs in rare disease,” Karen explains. “But as a team of parents, we found ourselves wondering about another part of the story: What helps families experience strength, support, and moments of well-being while all of that complexity is still there?”
Listening to caregivers shifted the cohort’s understanding of well-being. The ongoing research highlighted several recommendations for strengthening support for families with rare diseases. At the heart of these recommendations is the recognition that supporting caregivers and families can strengthen their ability to participate in care, research, and clinical trials
The Power of Lived Experience
For the cohort, the PaCER experience demonstrated that lived experience can contribute to research in ways that extend far beyond sharing personal stories.
“One of the biggest takeaways has been realizing just how powerful it is when lived experience is treated as expertise,” Jessica says.
“While every family’s journey was unique, there were so many common threads of strength, connection, uncertainty, and hope. It reminded me that some of the most important knowledge doesn’t always come from textbooks. Sometimes it comes from people simply sharing what they’ve lived through.”
Roberta experienced this firsthand during conversations with caregivers who shared deeply personal experiences with the research team.
“You could see how much families carry and navigate, but they still took time to share their experiences in the hope that something could be learned from them and used to make things better,” she says.
She also saw how lived experience influenced the research process itself, from the questions the team asked and the conversations they had to how they interpreted what they heard.
For JoAnne Mosel, from Quebec, the program provided an opportunity to deepen her understanding of research and strengthen her ability to contribute to advocacy.
“I needed to further my development to better understand what exactly, or at least get a better idea, of what research entailed, since it was such an important component to effective advocacy,” JoAnne explains.
The experience also reinforced the importance of collaboration.
“Each member of the team has awesome contributions to make,” JoAnne says.
From Caregiver to Patient Researcher
The PaCER experience has changed how members of the cohort see their roles within research and the rare disease community.
For Jessica, the program helped build confidence that her voice, and the voices of other families, belong in research.
“PaCER gave me confidence. It helped me realize that my voice, and the voices of other families, belong at the research table.”
Roberta similarly sees patient-oriented research as a space where she wants to continue contributing.
“PaCER confirmed that this is a space I want to continue working in,” she says.
She hopes to contribute to work that takes what patients and families share and uses those experiences to shape better care, supports, and experiences.
JoAnne is already continuing her involvement in the rare disease community through initiatives such as Journey for Hope, while building relationships with researchers and advocates and working to raise awareness of cerebral visual impairment.
“I am always on the lookout for new opportunities,” JoAnne says.
For Karen, the experience has added another tool to work she was already committed to through the rare disease community and Fragile X Canada. She hopes to continue creating opportunities for people with lived experience to move beyond being consulted and into meaningful roles in research.
“I entered the program wanting to learn how lived experience could be translated into rigorous research,” Karen says. “I leave it with an even greater appreciation that lived experience can do more than contribute to research, it can shape the questions we ask, help us recognize patterns across communities, and generate knowledge that may otherwise remain unseen.”
Taking the Research Beyond the Classroom
The cohort’s work is already reaching audiences beyond the PaCER classroom.
The Raising Up Rare project was presented at the Children’s Healthcare Canada conference, where the team’s research poster received a conference poster prize. The cohort is also developing a manuscript for publication and making plans for sharing their findings with the broader research and healthcare community.
Their journey demonstrates what can happen when caregivers are not simply invited to participate in research, but are given the training and opportunity to help shape it.
The experience also highlights the value of bringing together people with different rare disease experiences. While each diagnosis and family journey is unique, the cohort’s research revealed shared experiences and opportunities to learn across rare disease communities.
Karen captures the cohort’s vision for what meaningful patient engagement can look like moving forward: “Ultimately, I would like to help move patient engagement further, from having a seat at the research table to having a meaningful role in deciding what table needs to be built in the first place.”