The reality of having a rare genetic disease during a global pandemic

“People living with a rare disease (PLWRD) are a vulnerable population that is disproportionately impacted considering the chronic, highly complex, progressive and severely disabling nature of their disease, which generate specific care needs.”
- Rare Diseases International (RDI)”

Since the emergence of the novel coronavirus SaRS-CoV-2, the global focus has shifted towards developing preventative and curative measures for this virus. Total confirmed cases as of January 17, 2021 have reached 94,702,284 and total recorded deaths are at 2,025,474¹. As a result of the virus’s prevalence and apparent lethality, governments around the globe are working tirelessly to contain the outbreak and prevent further spread. The evolving nature of COVID-19 carries with it substantial uncertainty. It is currently known that the virus is particularly threatening to people living with rare diseases (PLWRD). This pandemic has placed PLWRD at significant disadvantages; such that individuals must continue to seek treatment for their disease with the added danger of contracting COVID-19. It becomes clear that there exists an abundance of secondary consequences affiliated with COVID-19 that will have a lasting effect on PLWRD. For instance, individuals with rare diseases are facing the challenge of delayed health services, blood shortages, delayed access to vital medication, and cancelled clinical trials of developing treatments². According to a global survey conducted by Rare Diseases International (RDI), 50% of respondents in Canada have experienced interruption in the care they typically receive since the onset of the pandemic³. Furthermore, the RDI reported that 40% of Canadian respondents have experienced challenges in accessing their medicines and treatments throughout the pandemic³.

Evidently, the potential for drug supply issues can be exceptionally frightening, especially for PLWRD who rely on such medications to survive. The complexity and vulnerability of Canada’s prescription drug supply chain have become evident over the course of this pandemic. Unfortunately, Health Canada has no power over pharmaceutical companies in the quantity or type of drug they produce and distribute. At the beginning of the pandemic, patients began to stockpile their medications in anticipation of a lock-down, causing drug supplies to quickly become scarce⁴. On March 20, the Ontario Ministry of Health released a notice recommending that pharmacists only dispense a 30-day supply of Ontario Drug Benefit (ODB) medications to patients. This notice resulted in unfortunate increases in dispensing fees for patients, however, it favourably minimized the strain on the drug supply chain and helped to mitigate further shortages⁵.

Major pharmaceutical companies for rare diseases such as Alexion, Pfizer, and Boehringer-Ingelheim have released statements regarding the possible implications of COVID-19 on drug supply and clinical trials. A representative from Boehringer wrote, “we consider the continuous availability of medicinal products and the supply to our patients and customers of utmost priority to us”⁶. In a survey released by the Canadian Organization for Rare Disorders (CORD), many of the integral pharmaceutical companies pledged their continued support to those suffering from rare diseases. Despite these positive messages, many pharmaceutical companies, such as Boehringer Ingelheim and Pfizer, also announced temporary pauses on the recruitment portion of new and ongoing clinical studies in an effort to “avoid adding to the demands on the healthcare system during this unprecedented time”⁶. Although the majority of these temporary pauses have since been resumed, the Government of Canada has announced that “clinical trial applications that investigate how to prevent, mitigate or treat COVID-19 are given top priority”⁷. The re-directed focus of combatting COVID-19 means that new trials investigating rare diseases are at a standstill. Ongoing clinical trials studying rare diseases remain functional, albeit with added caveats associated with mitigating the risk of contracting COVID-19. The unfortunate reality is that PLWRD often lack effective treatments and desperately need further research that has been greatly disrupted by the pandemic.

Throughout the pandemic, there has been an increased strain on the healthcare system and demand for life-sustaining supplies such as ventilators and intensive care unit beds. Despite the provincial governments’ obvious efforts to increase hospital capacities, the reality is that Ontario hospitals are projected to reach capacity by mid-February 2021 at the time of writing this article. Consequently, PLWRD fear they may be discriminated against by triage protocols in emergency rooms, a fear that is not unwarranted. As Ontario continues to navigate the uncharted territory this pandemic has provoked, substantial ethical debates have surfaced. On March 28th, Ontario Health released a draft entitled “Clinical Triage Protocol for Major Surge in COVID Pandemic”, which outlines how the province will “minimize mortality and morbidity for a population overall, as opposed to individual mortality and morbidity risk.”⁸. Individuals who meet the exclusion criteria have either (1) a low probability of surviving an acute illness or (2) a low probability of surviving more than a few months regardless of the acute episode of critical illness⁸. Ontario Health’s tertiary critical care triage criteria references several rare diseases such as advanced Amyotrophic Lateral Sclerosis and Cystic Fibrosis as meeting the “exclusion criteria”.

This triage protocol draft prompted hundreds of disability organizations to challenge its ethical soundness. On April 8th, an open letter that was signed by 204 organizations and 4828 individuals was sent to the Premier of Ontario, Deputy Premier and Minister of Health of Ontario, and the Minister of Seniors and Accessibility of Ontario. This letter highlights many of the concerns associated with a triage protocol and places an emphasis on ensuring that individuals with underlying health concerns, including rare diseases, are not deprioritized for critical care on the sole basis of their condition⁹. On October 16th, the newly appointed Chief Commissioner of the Ontario Human Rights Commission (OHRC) released a letter vocalizing his concerns with the Government of Ontario’s lack of public communication regarding the drafted triage protocol¹⁰. After months of criticism, the Ford Government finally announced in a press conference on November 9th that they had rescinded their deeply unethical protocol¹¹. Despite this favourable motion, many individuals with rare diseases rightfully remain fearful that in the case of a “second wave” a similar framework will be implemented regardless of their approval.

Although this pandemic has been challenging for all Ontario citizens, PLWRD have faced many additional obstacles. It is essential that government leaders continue to make strides towards ensuring that Ontario is properly prepared to endure another surge. Such preparations must include difficult conversations regarding how Ontario will approach future scarcities in resources. Decisions must be ethically sound and openly reviewed and discussed with the general public. This pandemic has showcased many of the weaknesses in Ontario’s currently enacted policies. Organizations and patients must continue to advocate for their rights and hold Ontario’s legislation accountable for its decisions. As the global race towards developing a vaccine nears its end, governments must responsibly organize its distribution. Currently, Health Canada has approved the Pfizer-BioNTech vaccine and the Moderna vaccine for use in Canada. It is imperative that governments recognize the differential degrees of susceptibility in their populations, and prioritize those who are at a heightened risk. It was determined that “individuals with high-risk chronic conditions and their caregivers'' can expect to be offered the vaccine as early as March 2021¹². Ontario, and all governments, must continue to learn from their past mistakes and work tirelessly towards mitigating the hardships PLWRD face as a result of this pandemic.

Melanie Peck

Special thanks to Dr. Craig Campbell at London Health Sciences Centre for their professional assistance.

1. Dong E, Du H, Gardner L. An interactive web-based dashboard to track COVID-19 in real time. Lancet Inf Dis. 2020;20(5), 533-534. doi: 10.1016/S1473-3099(20)30120-1. Updated January 21, 2021. Accessed January 21, 2021

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2. COVID-19 impact on rare disease patients: letter to ministers of health & responses. Canadian Organization for Rare Disorders. http://www.raredisorders.ca/covid-19-impact-on-rare-disease-patients. Published April 28, 2020. Accessed January 21, 2021

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3. RDI Statement on COVID-19 response and recovery. Canadian Organization for Rare Disorders. http://www.raredisorders.ca/content/uploads/RDI-STATEMENT-Not-leaving-behind-RDs-in-COVID-19_Final.pdf. Published July 2020. Accessed January 21, 2021

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4. Notice: Ontario Drug Benefit (ODB) Program Changes and Guidance for Dispensers during the COVID-19 Public Health Emergency. http://www.health.gov.on.ca/en/pro/programs/drugs/opdp_eo/notices/exec_office_20200320.pdf. Published March 20, 2020. Accessed January 21, 2021

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5. Briggs V, Riordon M. Why are there drug shortages during the COVID-19 pandemic? Ask a pharmacist. https://deptmed.queensu.ca/dept-blog/why-are-there-drug-shortages-during-covid-19-pandemic-ask-pharmacist. Published June 8, 2020. Accessed January 21, 2021

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6. Corporate Responses re: Impact of COVID-19 Pandemic on Rare Disease Patients in Canada. http://www.raredisorders.ca/corporate-partners-response-to-impact-of-covid-19-pandemic-on-rare-disease-patients-in-canada/

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7. Government of Canada. Management of clinical trials during the COVID-19 pandemic: Notice to clinical trial sponsors. Government of Canada; 2020. https://www.canada.ca/en/health-canada/services/drugs-health-products/drug-products/announcements/management-clinical-trials-during-covid-19-pandemic.html

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8. Ontario Health. Clinical Triage Protocol for Major Surge in COVID Pandemic. Ontario Health; 2020. https://med.uottawa.ca/pathology/sites/med.uottawa.ca.pathology/files/clinical_triage_protocol_for_major_surge_in_covid_pandemic_-_march_28_20205.pdf

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9. Open letter: Ontario’s COVID-19 Triage Protocol. Accessed January 21, 2021. https://archdisabilitylaw.ca/wp-content/uploads/2020/04/April-8-2020-Open-Letter-Ontarios-COVID-19-Triage-Protocol-PDF.pdf

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10. Ontario Human Rights Commission. Letter to the Minister of Health on Bioethics Table recommendations and proposed framework for a COVID-19 triage protocol. Toronto, Canada: Ontario Human Rights Commission; 2020. http://www.ohrc.on.ca/en/news_centre/letter-minister-health-bioethics-table-recommendations-and-proposed-framework-covid-19-triage

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11. Accessibility for Ontarians with Disabilities Act. Ford Government Says it Rescinded its Widely-Condemned March 28, 2020 Protocol Directing Which Patients Will be Refused Life-Saving Critical Medical Care if the COVID-19 Surge Exceeds Hospital Capacity – But Won’t Reveal How It Will Fill that Vacuum. Accessibility for Ontarians with Disabilities; 2021. https://www.aoda.ca/ford-government-says-it-rescinded-its-widely-condemned-march-28-2020-protocol-directing-which-patients-will-be-refused-life-saving-critical-medical-care-if-the-covid-19-surge-exceeds-hospital-capacit/

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12. Government of Ontario. Getting a COVID-19 vaccine in Ontario. Government of Ontario; 2021.https://covid-19.ontario.ca/getting-covid-19-vaccine-ontario

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Cite This Article:

Peck M., Sritharan A, Charron B., Nakhoul R., Liang, A., Lombo, L., Chharawala V. The reality of having a rare genetic disease during a global pandemic. Illustrated by F.Choudhary. Rare Disease Review. February 2021. DOI:10.13140/RG.2.2.28163.43045.