UCalgary researchers lead international program to develop value framework on socioeconomic impact of living with rare disease

University of Calgary researcher Dr. Deborah Marshall, PhD, is leading an international team investigating the broad socioeconomic impact of living with rare disease. The study, titled Producing an Arthritis Value-Framework with Economic Evidence (PAVE), will explore health-care system costs and impacts on families including financial, education, employment, productivity, well-being and quality of life.

Research teams from Canada, Germany, Belgium, Spain, Switzerland and Israel are partnering with patient and family advocacy organizations — a first-of-its-kind partnership between the national Canadian patient organization Cassie and Friends, the European Network for Children with Arthritis (ENCA) and the Israeli Family Organizations.

Young adults living with juvenile idiopathic arthritis (JIA), recent graduates of the Patient and Community Engagement Research (PaCER) program through Continuing Education at UCalgary, will participate.

“They bring their new research training, and the lens of their lived experience with juvenile idiopathic arthritis,” says Marshall. “JIA is a group of rare chronic inflammatory diseases resulting in daily pain, stiffness, decreased mobility and, often, lifelong disability,” says Dr. Susa Benseler, MD, PhD, a paediatric rheumatologist at the Alberta Children’s Hospital and partner on PAVE.

“Our JIA patient research partners provide critical insights to what it is like to live with JIA and bring new ideas to the table,” says Benseler.

JIA PaCER patient research partners will co-design and conduct focus groups to shape the value framework and help identify potential interventions to reduce the burden of JIA. 

Transforming from patient to researcher

In December 2021, a compassionate group of six young adults with lived experience with JIA completed an intensive 12-month program to train them to conduct research projects by, for, and with patients. Ranging from 18 to 25 years of age, the 2021 JIA PaCER cohort includes a group of young adults from across Canada. 

As a full-time university student at the University of Ottawa, Natasha Trehan was initially hesitant to join the PaCER program but “committing to this intensive, innovative program has been the most rewarding experience,” she says.

Marshall and her colleague Dr. Gillian Currie, PhD, worked with the JIA PaCER cohort to co-develop a research project resulting in a report reflecting their unique voices and patient experiences in transitioning from child to adult care for JIA. 

“During this process, we offered each other the unique support that could only be provided by someone with the same lived experience of JIA,” says University of Regina Bachelor of Health Studies student and PaCER graduate Alejandra van Dusen.

It was truly an amazing feeling knowing that each member of my team knew what it was like to have JIA. When one of us needed support, there was always someone willing to step up to the plate.

For PaCERs with a rare disease, the program provided an extra unexpected benefit. “Before PaCER I had never had the chance to connect with other young people with JIA, and now I understand why patients supporting patients can be so powerful,” says Morgan Harris, a graduate from the 2021 JIA cohort studying human nutrition at the University of Guelph. “There was such a genuine understanding for one another and what we had been through as patients that made me feel instantly supported.” 

In the final phase of the PaCER training, the cohort wrote a report on the experience of youth transitions from paediatric to adult JIA medical care using their unique lens as lived-experience experts. “We were able to relate to and listen to our participants' experiences and create a safe space for them to share their stories without fear of judgment,” says University of Alberta psychology student Manahil Shariff. The report includes analysis of research findings, and recommendations for future patient-informed work.

“I acquired qualitative research skills and got to be involved in the research from start to finish with a like-minded team while putting a completed plan into action and creating a groundbreaking research report,” says Natasha Trehan.

“I’m so excited for what comes next as a PaCER patient researcher,” says Lauren McClinton, PacER graduate from Toronto. 

Partnership is key to project success

Funded by the Alberta Children’s Hospital Foundation, the PacER cohort was conducted in partnership with the international CIHR/Genome Canada-funded research program UCAN CAN-DU, a childhood arthritis network of Canadian and Dutch researchers and care providers jointly working to improve outcomes for children suffering from these debilitating diseases. Cassie and Friends was an instrumental partner, helping to recruit the cohort, and research participants for the JIA-PaCER final project. 

Cassie and Friends was founded by David Porte along with other parents after his daughter Cassie was diagnosed with JIA at 20 months old. After Cassie received the diagnosis, Porte ran in a local charity run raising over $18,000 by sharing Cassie’s story with colleagues, family, and friends. Through this event, the idea of Cassie and Friends, a non-profit organization 100 per cent% focused on kids and their families, was born.

Cassie and Friends is a key partner in this new research project and will be leading the activities of the Patient Advocacy Partners from Europe and Israel. “Partnership is key to this project,” says Marshall. “We will integrate large national datasets and survey results to provide evidence on the real-life socio-economic impacts of living with a rare disease. A critical aspect is the patient and family voice.”

Producing an Arthritis Value-Framework with Economic Evidence – Paving the Way for Rare Childhood Diseases (PAVE) was awarded $4.6 million by the European Joint Programme for Rare Diseases and the Canadian Institute for Health Research.

“I am honoured to be part of this international team supported by this prestigious award, and excited to work with the outstanding research team, passionate patient advocacy organizations, and this truly inspiring group of patient researchers,” says Currie.