Coronavirus: The Silent Killer of Rare Diseases

The current COVID-19 pandemic has made each day as uncertain as the next affecting physicians, civilians and politicians worldwide. The pandemic was caused by a novel coronavirus, SARS-CoV-2 which is transmitted by small droplets in the air, causing widespread and detrimental effects. Due to its rapid infectivity, the virus has placed a great deal of stress on the healthcare industry, leading to the implementation of new policies to prioritize vaccine development and social restrictions. In order to prioritize coronavirus vaccine development, many clinical trials for rare diseases have been disrupted or put on hold. This poses an increased risk to individuals with rare diseases as their daily life and hope for effective treatment is compromised.

The effects on individuals suffering from rare diseases can be exemplified through the implementation of new international policies that have become the norm. One such mandate includes social distancing guidelines that aim to prevent Covid-19 transmission. This regulation varies quite significantly both regionally and worldwide, due to the dynamic nature of this pandemic. It is something that people every day are trying to adapt to, yet, this regulation seems to be in constant flux as it has been tightened, loosened and then reinforced again as cases continue to surge. This sense of unpredictability can be very concerning for those who are affected by rare diseases and who rely on clinical trials for hope. Unfortunately, as most clinical trials are deemed non-essential, laboratories focused on rare diseases have closed their doors with a sudden halt in testing, disrupting the lives and hopes of patients awaiting treatment. This is the unfortunate case of a mother of two children with a rare degenerative disorder known as Jansen’s disease. This disease prevents the body from maintaining phosphate and calcium regulation, which ultimately leads to kidney malfunctions and an array of other health concerns. Researchers at the US National Institutes of Health were working on manufacturing a drug to treat Jansen's disease and were preparing to enter clinical trials; however, research efforts have been put on hold in light of the pandemic. This sudden end in research will delay the emergence of treatments for those with the disease, which unfortunately is the reality for many rare disease patients.² According to a biotechnology company based in Geneva, Switzerland, the pandemic is going to delay the start of a clinical trial to treat people with Parkinson’s disease, due to the prioritizing of the coronavirus vaccine.² Closure or delay of other research initiatives also acts as a preventative measure to limit non- essential personnel, in accordance with social distancing and small-group mandates.

Despite these barriers to clinical trials, different parties are working together to continue conducting research for rare diseases in the midst of the pandemic. For example, the American FDA and other governmental agencies are working to provide adjusted procedures with at-home testing and treatment when possible.² Therefore, the government and public health agencies need to ensure there are the appropriate funding and resources allocated to be able to continue to offer services in a virtual setting. In attempts to speed up the process for the coronavirus vaccine, governmental agencies have been forgoing unessential steps that are normally performed in clinical trials, and the same urgency should be applicable for those with rare diseases. Additionally, the experience gained in quickly creating a coronavirus vaccine can better equip the healthcare industry to deal with pressing rare diseases quickly and efficiently. Precautionary measures such as increased laboratories for rare diseases should be inplace. This would allow for simultaneous research of rare diseases and for pandemics or other global crises if they were to arise as a way to better prepare for future health risks. Having such mechanisms in place will ease the strain on our health industry and simultaneously allow it to invest efforts into research and treatment of rare diseases, such as Janssens and Parkinson's diseases. It is pivotal to note that these reduced clinical trials and modified regulations are subject to change as the pandemic progresses, adding yet another wave of uncertainty as to when these trials will restart.

The effects of the virus go beyond the lack of clinical research as it affects the mental, physical and financial well being of people with rare diseases. A study in Hong Kong focused on mental conditions of those with rare diseases and a large number of negative responses from rare disease patients affected during the pandemic were observed. They have reported 20% of individuals have revealed that pandemic has had big impacts on mental health whereas about 15% of individuals are facing a great impact on their mental wellbeing. An can be noted in the figure below. Overall, it is clear the taxing and damaging effects that this virus has put upon such individuals.⁶

Now, to put into perspective how this is affecting those in Canada, we can turn to the Canadian Organization for Rare Disorders. They are a national organization advocating for hundreds of diseases and are a voice for over 2.8 million Canadians affected by rare diseases. After conducting a survey, two-thirds of these individuals have commented that they were scared to seek out treatments and medications because the odds of contracting the virus increases upon entering hospitals.⁵ The same survey revealed many other lifestyle changes to these individuals as they mentioned an increase in, “denied testing, rehabilitation therapy, supportive care, and medicines.⁵ The absence of these health services has taken a toll on their health and safety. However, it is critical to note that both options, to participate or not, pose a concern. Most of these individuals are vulnerable to being infected with the virus, but also dependent on treatment and trials, thus putting them in a difficult position to choose between two high-risk options. These effects can be alleviated through quarantine measures and advocating for new policies. Such measures help those with rare diseases deal with alterations that affect their quality of life and daily routines.

On a global level, different precautions and mandates have been put in place that can help individuals with rare diseases in this situation. Many countries have instilled quarantine measures; however, this is not anything new as it was previously implemented to help with the SARS epidemic a few years ago.³ A quarantine mandate requires individuals to stay in isolation if they have potentially come in contact with someone infected with the virus. Therefore, if enforced and done so correctly, this can aid in facilitating a sense of safety by having potential carriers stay home in isolation, allowing others the ability to seek out medical care. Through government policies, these organizations of rare diseases should also be financially supported. Organizations that are advocating for policy changes include the Cystic Fibrosis (CF) Foundation, which is working diligently to bring about a change in policy that will provide those affected by CF with an expanded version of paid medical leave. An additional way to help cater to those with rare diseases is through RAREwithCOVID; an online registry,aiming to provide resources to help understand the progression of Covid-19 among rare disease communities compared with the general public. This registry provides a database of individuals with distinct rare diseases and it aims to provide accounts of individual experiences, how coronaviruses have created various effects. ¹ With more funding, this could be a useful global tool.

Overall, we need to ensure that people with rare diseases are not at a greater disadvantage as a result of the pandemic and current policies. As a community, we can achieve this by working towards formulating a better health care system and implementing more beneficial policies. We must continue to create a system where promoting new policies when old ones no longer serve us, and advocating for vulnerable members of society, is the standard. In combination with small groups mandates, isolated quarantine measures and new governmental policies, it will provide safety to not only the general public but also the often underrepresented individuals with rare diseases.

Suely Pacheco

---

Works Cited

1. Bichell TJ. 2020. Should Dave open the refrigerator? RAREwithCOVID can help decide. Angelmansyndromenews.com. [accessed 2020 Oct 22]. Available from: https://angelmansyndromenews.com/columns/2020/04/17/rare-covid-19-disease-database-symptom-outcome-tracking/.
2. Ledford H. 2020. Coronavirus shuts down trials of drugs for multiple other diseases. Nature. [accessed 2020 Oct 22]; 580(7801):15–16. Available from: https://www.nature.com/articles/d41586-020-00889-6
3. Hawryluck L, Gold WL, Robinson S, Pogorski S, Galea S, Styra R. 2004. SARS control and psychological effects of quarantine, Toronto, Canada. Emerg Infect Dis. [accessed 2020 Oct 22] 10(7):1206–1212.Available from: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3323345/
4. Paid family medical leave and COVID-19: An overview. Cff.org. [accessed 2020 Oct 22]. Available from: https://www.cff.org/About-Us/Our-Approach-to-Federal-State-and-Local-Policy/Our-Policy-Priorities/Paid-Family-Medical-Leave-and-COVID-19-An-Overview/.
5. Wong-Riege, D. 2020. COVID-19 impact on rare disease patients: Letter to ministers of health & responses. Raredisorders.ca. [accessed 2020 Oct 22]. http://www.raredisorders.ca/covid-19-impact-on-rare-disease-patients/.
6. Chung CCY, Wong WHS, Fung JLF, Chung BHY. 2020. COVID-19 Worsens Health Condition and Financial Status of Rare Disease Patients in Hong Kong: Rarediseasesinternational.org. [accessed 2020 Nov 4]. https://www.rarediseasesinternational.org/wp-content/uploads/2020/07/RDHK-COVID-19-Survey-Press-Release-ENG-Final.pd

Cite This Article:

Pacheco S., Zada D., Carmona A. Coronavirus: The Silent Killer of Rare Diseases. Illustrated by Z. Hasan. Rare Disease Review. December 2020. DOI: 110.13140/RG.2.2.28412.97922