Rare Disease in the Media: Documentary 'Bend or Break' Brings Unmet Medical Needs Front & Center
Our research team has been very busy throughout the past few months conducting primary research, speaking with stakeholders and leaders in the social pharmaceutical innovation space, and working to meet our research goals. However, bringing attention to unmet medical needs is still at the front of our research goals.
In Canada, our team continues to work to establish a better understanding of how previous examples of social pharmaceutical innovation can work to pave the way for future funding and innovation arrangement so that patients with rare diseases can get earlier and better access to treatments, and how increased research in this space can be stimulated.
We recently heard about a captivating documentary, based on the lived experience of a patient, named Mitch, with a rare disease. His diagnosis with Ehlers-Danlos syndrome was one he waited on for many years, being misdiagnosed for years, and therefore having his medical needs unmet.
Ehlers-Danlos syndromes (EDS) are a group of related rare disorders which are caused by genetic defects in collagen, which is a major structural components of the body. Patients with EDS commonly experience irregularities in their skin, muscles, skeleton, and blood vessels (National Organization for Rare Diseases, 2017). Patients with EDS often have skin that can be too easily stretched away from their body (National Organization for Rare Diseases, 2017). This skin characteristic predisposes patients to problems with wound healing (National Organization for Rare Diseases, 2017). Patients also have excessively flexible and loose joints, which predisposes them to chronic pain that is often misunderstood and at times, is misdiagnosed as a mental health condition (National Organization for Rare Diseases, 2017). Patients, like Mitch in the documentary, are often told that their pain is as a result of psychological conditions, leading them to feel incredibly alone, disempowered, and without access to the treatments they need.
The care of patients with EDS is generally focused on implementing preventative measures against serious or life-threatening complications (National Organization for Rare Diseases, 2017). However, there is currently no treatment for the progression of this rare condition. Based on 2015 population estimates, 2,762 individuals in Ontario are affected by EDS, with even more across Canada (Critical Care Services Ontario, 2015). As such, patients are in desperate need for treatments to address this condition which can worsen over time.
In the rare disease space, we understand the value of stories. We know the importance and impact of patient voices. Hear Mitch's story free as part of the True Colours Festival: https://vimeo.com/showcase/8849452/video/624093593
Critical Care Services Ontario. (2015, December). Ehlers-Danlos expert panel report: Report to the Ministry of Health and Long-Term Care. Government of Ontario. https://www.health.gov.on.ca/en/common/ministry/publications/reports/eds/eds_expert_panel_report_en.pdf
National Organization for Rare Disorders. (2017, September 27). Ehlers Danlos Syndromes. NORD (National Organization for Rare Disorders). Retrieved 8 December 2021, from https://rarediseases.org/rare-diseases/ehlers-danlos-syndrome/