Grant: Planning and Dissemination Grant - Institute Community Support

Individuals living with a hereditary connective tissue disorder (HCTD), a family of more than 200 rare genetic diseases that affect the production and composition of connective tissues, are at increased likelihood of experiencing stigma, symptom invalidation, misdiagnosis and poor access to quality care. This is in part due to the rare nature of the illness, the multitude of symptom presentation, the high degree of comorbidities with mental health symptoms, and the high prevalence of symptoms like chronic pain. As stated in the Ministerial Quebec Action Plan for Rare Diseases 2023-27, there is an urgent need for 1) training and awareness of rare diseases, 2) improved and equitable access to diagnosis, care and services, and 3) promotion of research, data collection and innovation. This planning grant has two parts. First, we will conduct a synthesis of the literature to assess the availability and quality of existing clinical practice guidelines for HCTDs and identify gaps limiting evidence-based practice in HCTDs. Second, we will organize a one-day workshop to share knowledge from the synthesis, and consult with key partners (patients, clinicians, managers, organizations) to prepare the grounds for a Patient Journey Mapping research project. These two undertakings will set the stage for a subsequent research grant application to portray how people living with a HCTD enter, experience, maintain, loose access to healthcare and identify gaps in care and unmet needs and opportunities for mitigation. Ultimately, this line of research will improve understanding of the experience of people living with a HCTD and support the development and improvement of care and services.