It’s a Tough Time…but It’s Even Tougher for Rare Disease Patients

Rare disease patients are carrying extra baggage in this pandemic-dominated world. This virus is unpredictable, both in whom it infects and in how it manifests in each individual. And rare disease patients know that COVID-19 can affect them in multiple ways beyond just the physical. Over the last several months, rare disease patients have been facing two fears: getting infected with COVID-19, and not being able to continue treating the condition they are already trying to manage.

This strain of coronavirus is highly contagious, and it is understandable that people fighting a rare disease wonder if it can invade their bodies easier than it does a healthier person. To compound this fear, many rare diseases require hands-on treatments, such as infusions, which are administered in hospitals or other healthcare facilities. To stay alive, they have to put their lives at risk by going out of their homes to heavily-trafficked places and interact with healthcare professionals who are treating many sick people. It is more than a little unsettling.

Beyond the fear of the risk the virus poses to their health, rare disease patients fear that they may not be able to acquire the drugs and treatments they rely on to stay alive. First of all, they may not be able to afford their medications. According to the National Organization for Rare Disorders, NORD, 29% of rare disease patients have lost their jobs as a result of COVID-19, and 11% of that group also lost medical insurance.

Additionally, the drug supply chain has experience interruptions with recent manufacturing plant closures, and even the ones that are open have experienced significant staff reductions in order to maintain social distancing in the workplace. Many of the treatments that are human-derived, such as plasma-based therapies, cannot be manufactured in the usual quantities, because donors are not as plentiful while people are afraid to come out of their homes. In the heightened security environment, safety protocols are more involved, further delaying production. And once the drugs are manufactured, travel restrictions have caused delivery delays, also impacting supply.

The effects of the medical industry’s reactions to COVID-19 will extend beyond the short term. In the rush to find treatments and a vaccine, resources including funding and scientific investigators have been detoured away from research on rare disease therapies toward research on the virus. We cannot predict how far back that will set the development of new, lifesaving therapies. We cannot calculate how it will impact the loss of life.

So what do we do until this situation passes? There is some help out there for individuals to help with immediate needs. If your condition requires infusion therapies, many providers are working with home care companies to switch to at-home infusions. Check with your provider to see if you can be accommodated. If affording your medicines has become a challenge, check with the drug manufacturer. Many pharma companies have expanded patient access programs to help those newly in financial need due to the pandemic. And if your living expenses are now beyond your means, NORD has established the Critical Relief Program to provide financial assistance with non-medical needs such as rent/mortgage payments, cell phone/internet charges, utility bills and auto maintenance.

To help make sure that assistance like the examples above continue and maybe even expand, visit the Rare Disease Clinical Research Network (RDCRN) website and fill out the online survey to help measure the effect of COVID-19 on people with rare diseases at www.rarediseasenetwork.org/COVIDsurvey.

Online Survey Debuts to Discover Effect of COVID-19 on Rare Disease Patients

As the country continues the monumental effort to respond to an unprecedented health threat, it is becoming increasingly obvious that the impact of COVID-19 goes beyond the effects experienced by many of the virus’ patients. In fact, this disease may be detrimental even to rare disease patients who never contract it.

When the threat of this virus first hit the news, many rare disease patients worried primarily about contracting the illness. They wondered if they would be more susceptible to falling victim to it, and whether they might develop a more serious case as a result of their underlying conditions.

In response to these concerns, the Rare Disease Clinical Research Network (RDCRN) has developed an online survey to better understand the effect of COVID-19 on people wit rare diseases, their families and caregivers. The RDCRN, comprised of clinical research organizations and patient advocacy groups, studies rare diseases of the brain, heart. Lung, kidney, immune system and more. A disease is considered rare if it effects less than 1 in every 200,000 people in the US. While each rare disease effects between a few hundred and a few thousand patients, collectively, the rare disease patient population includes more than 30 million people in the US.

The RDCRN survey covers a range of topics, from access to care and medication to experiences navigating the Emergency Department should a visit become necessary. Their objective is to discover the particular challenges the rare disease community faces and how the RDCRN can help them meet their needs by providing information and advice from its network of clinicians and patient advocates. They also hope that the survey responses can help the researchers understand why certain subgroups of patients fare better and some worse and whether certain individuals are more prone to COVD-19 infection as a result of underlying conditions.

The RDCRN hopes to receive 5,000 responses. To learn more and have your voice heard, visit www.rarediseasenetwork.org/COVIDsurvey.

First Do No Harm: An Open Letter to Administrators Crafting Policies for Ventilator Allocation

What happens to the disabled and rare disease patients if ventilators have to be rationed?

As the number of cases of COVID-19 escalate, the much-feared shortage of medical resources, particularly ventilators, seems to be approaching fast. Should this very real threat come to pass, physicians will be in the agonizing position of needing to ration life-saving support devices. So how do physicians decide who gets a ventilator and who goes without, potentially dying?

Italy has been facing this dilemma for weeks now, and that country has chosen the utilitarian approach. In that country, clinicians’ choices must be based on the largest benefit for the largest number of people. To do this, Italian clinical guidelines state that physicians must consider comorbidities as part of the equation when allocating resources because patients with other conditions may take longer to recover than otherwise healthy patients. This same standard appears in multiple states’ Crisis Standard of Care plans. Some states go so far as naming particular conditions that make a COVID-19 victim unlikely to receive ventilator support, including intellectual disabilities, metastatic cancer and AIDS.

Theoretically, this utilitarian approach may save more lives, but it is a moral failure. Choosing which lives are more worthy of saving, instead of allocating resources on a first-come, first-serve basis is a violation of the covenant physicians enter into when they take the Hippocratic Oath.

In the modern version of the Hippocratic Oath, physicians make a promise to their future patients – to care for them holistically and compassionately. How does discriminating against a disabled patient fulfill this promise? The oath reads:

I will apply, for the benefit of the sick, all measures [that] are required, avoiding those twin traps of overtreatment and therapeutic nihilism.

Overtreatment is an issue we have been struggling with in this country for many years. Many elderly or terminally ill patients spend their final days, weeks or months attached to life support machines that cannot heal them, but only prolong suffering as they crawl toward certain death. We are not advocating this approach, nor would we advocate using a ventilator on someone whose death is unavoidable. If treatment is futile for an individual, it seems obvious that lifesaving equipment should not be used. But that logic should not lead us to the belief that those with pre-existing conditions are not worth the resources. I will remember that there is art to medicine as well as science, and that warmth, sympathy, and understanding may outweigh the surgeon's knife or the chemist's drug.

We cannot imagine how warmth, sympathy and understanding can be part of a decision to value one life over another, especially if the undervalued life is a person who already struggles with a disability, a life-limiting condition or a rare disease. Have they fought the good fight to stay healthy, to follow their treatment regimen, to work in partnership with their physician merely to be told in their hour of need that they are not worth saving?

I will not be ashamed to say "I know not," nor will I fail to call in my colleagues when the skills of another are needed for a patient's recovery.

The utilitarian approach to rationing ventilators has a practical flaw as well. We are assuming that we can accurately predict the trajectory of the illness in all patients. While we see major complications in many patients with certain comorbidities including diabetes and COPD, not all patients in high risk groups experience life-threatening complications. There is the example of a young man in London with cystic fibrosis whom everyone would expect would suffer a highly aggressive manifestation of the virus. Yet he never felt as sick as many previously healthy patients did, and returned home to convalesce. Can physicians be sure that they know how a patient will react? Can they know how long a patient will need breathing support? Or are they making educated guesses? Are we prepared to make life or death decisions based on educated guesses? I will respect the privacy of my patients, for their problems are not disclosed to me that the world may know. Most especially must I tread with care in matters of life and death. If it is given me to save a life, all thanks. But it may also be within my power to take a life; this awesome responsibility must be faced with great humbleness and awareness of my own frailty. Above all, I must not play at God.

Choosing to give a non-disabled person ventilator support over a disabled person is horrible enough, but New York state takes it one step further. The state department of health, in their Ventilator Allocation Guidelines, submits that when a new patient arrives at a hospital whose medical history suggests that he or she would recover faster than a patient already intubated who is not improving fast enough, the ventilator be taken away from the patient using it and given to the new patient. This is the preferred course of action even though it may well lead to the first patient’s death. The physician is asked to actively take one life to save another. How is this not playing God? I will remember that I do not treat a fever chart, a cancerous growth, but a sick human being, whose illness may affect the person's family and economic stability. My responsibility includes these related problems, if I am to care adequately for the sick.

If we accept that physicians should make these kinds of decisions, what does that say about how we value the life of a human being? The utilitarian model suggests that the value of life is simply a mathematical equation: it is acceptable to take the life of one person if we later save two. But how do we accurately value any human life? What is a value of a person to those who rely on him for financial support, or her for emotional assistance? If we take one life, what becomes of the others that person was caring for, such as children or infirm parents? Do we lose more lives as a later result of this decision? There is no calculus to determine the value of a life, which is why the only fair and equitable way to allocate ventilators is first come, first serve. A patient’s place in the queue is not attached to a valuation of their life. I will remember that I remain a member of society, with special obligations to all my fellow human beings, those sound of mind and body as well as the infirm.

How physicians approach ventilator allocation will both reflect and inform our values as a society. In 1977, former Vice President Hubert Humphrey, himself a healthcare provider, stated that our country must protect “those who are in the dawn of life, the children; those who are in the twilight of life, the elderly; those who are in the shadows of life; the sick, the needy and the handicapped.” What kind of people do we want to be?

If I do not violate this oath, may I enjoy life and art, respected while I live and remembered with affection thereafter. May I always act so as to preserve the finest traditions of my calling and may I long experience the joy of healing those who seek my help.

Physicians are healers. Choosing which patient gets a ventilator and which patient dies is an immense burden to place on a clinician for a number of reasons. First of all, harming any patient is antithetical to their purpose. Second, in decisions revolving around a predicted outcome, there is a large margin of error, and the uncertainty they will feel regarding the accuracy of their choice will weigh on their minds. And most of all, the practice of medicine revolves around a patient-centered mindset. When a physician is treating a patient, in the moment, the patient believes that his or her well-being is topmost in the doctor’s mind, not some impersonal concept of “the greater good.” Doctors feel this obligation to the patient they are treating and violating this trust may well lead them to moral injury, psychological harm caused by betraying one’s deeply held moral code. Their feelings of moral failure will come back as crippling psychological harm that haunt their future, and we must care about the damage we are doing to those who are now risking their lives to care for us on a daily basis.