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April 2020 Newsletter

Publication date: 27 Apr 2020

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Unrare Challenges

Besides physical and medical challenges, rare disease patients frequently confront social obstacles similar to those experienced by more commonly recognized minorities. Being “different” can mean becoming categorized into stereotypical classes with ambiguous connotations. Acknowledging health issues and physical limitations can be beneficial in promoting empathy and a community environment that is universally accessible. On the flip side, the same medical issues can seemingly cap human potential as society underestimates the abilities, needs and aspirations of those with rare diseases. At school, at work, at home and in dealing with institutions, navigating through a forest of obstacles to strike a proper balance between wanted support and unwanted discrimination is not easy.

Rare diseases are varied in prevalence and severity. Some are debilitating, some are barely noticeable, some may take many years to develop and some can be effectively controlled. Consequently, there are no simple rules or policies that can address all patient concerns. Experiences from real patients communicated to RareShare can help further broader understanding.

COVID-19 Impact on Rare Disease Patients

With COVID-19 having devastating effects worldwide, non-emergency healthcare priorities have seemingly been set aside until the pandemic crisis comes under control. For some rare disease patients, depending upon severity and locality, treatments may be postponed due to resource and staffing constraints. Face-to-face interactions with caregivers may be harder to come by. Obtaining maintenance medications could become difficult. For those with immunocompromised conditions or physical disabilities who may be at high risk for severe complications from coronavirus exposure, extreme social distancing measures may be warranted. And, despite best efforts, certainly some rare disease patients will acquire COVID-19. Some real-life stories may be found in the RareShare news link section: https://rareshare.org/news_links.

RareWear Program

Rare Genomics Institute seeks to encourage the development of wearable monitoring devices through its RareWear program. Companies with candidate devices can donate them to select rare disease patients to assess their potential utility in addressing specific monitoring needs. To learn more about the program visit the website here. If you haven’t already done so, participate in a program survey RareWear survey link.

RareShare User Survey

Web developers on the RareShare team are working on improvements to the design, organization and functionality of the website. To help us build a website that is user friendly and continues to fit your needs, please provide input in the brief survey below.

User Survey

CBC Podcast Series
Unlocking Bryson's Brain is a new eight-episode podcast series produced by the Canadian Broadcasting Company chronicling deeply personal experiences of a family with a son having an ultra-rare neurodevelopmental disorder. The first three episodes describe early signs of the disease, the search for a diagnosis, and the potential for gene editing treatment. The podcasts may be accessed through the following link: https://www.cbc.ca/radio/podcasts/unlocking-brysons-brain/.

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