I have an exceedingly rare disease. In September, I was diagnosed with Chronic Active Epstein-Barr Virus (CAEBV). It is a rare complication of the Epstein-Barr Virus, well known for its most common symptom, mononucleosis (colloquially referred to as mono). I’m told by rare disease researchers that the occurrence of CAEBV is rarer than one in 1 million. It is a chronic, progressive disease with a high mortality rate.
Though the immediate prognosis is better than some illnesses – I have a 60 per cent chance at surviving five years as opposed to surviving just a few months as can be the case with some cancers – the end result is that this disease will end my life early. I’m 35 years old and there is no sound curative treatment.
All of the medical professionals I have encountered throughout my diagnostic journey have been incredibly kind, knowledgeable, open and willing to take the extra time to settle any questions I may have had – at least as best they could. The doctors, nurses, receptionists, clerks and technicians have all been exceptional. On some level the journey has been fascinating as modern medicine truly is astonishing. However, a significant piece is missing: How can medical professionals best care for an untreatable patient?
So rare is my illness that there is no known, common path of progression among the few diagnosed globally. No typical path of symptomatic progression, only a common fatal outcome. There is no support group or network to rely on. There are medical publications that speak to the limitations of potential treatments on the disease but not to the likely course the disease may take.
The path and timeline of events to befall me is a vast unknown, harder to process than the reality of the diagnosis itself. Research focuses on the medicine, but not the human.
The crux of my main struggle is how to plan for a future where so much of it is unknown? Do I have two years, five years, or maybe seven remaining? No one knows. When is the right time to take leave from work and focus on myself, family and friends? There is no calculation to help determine that.
Young and ambitious, my wife and I have put ourselves and our careers first – we have both been very fortunate and have excelled. Children have always been part of our dream but what now if my future is limited? Even if I have years left, what will the quality of life during those years be? At the moment, medicine is unable to guide me through many of these gaps. A support network of fellow sufferers, though not able to precisely be applied to my own personal situation, could at least offer examples of how people who have come before me have worked through these issues. At the moment I simply strive forward, one day at a time, with no answer to such questions.
I thrive on data, I always have. The more information I can gather about a situation, the better. Facing a chronic, progressive illness, I am no less information hungry. The problem is, it just doesn’t exist – or at least not that I can find.
I have started tracking my vitals at home in an attempt to try to anticipate “bad days” versus good. Daily, without fail I log my temperature. By chance, prior to the onset of symptoms earlier in the year I began wearing a fitness tracker. The device tracks, among other things, heart rate, respiration rate, sleeping heart rate, oxygen saturation and heart rate variability (or HRV). I log all of this information daily, part of my quest to learn and anticipate my future.
Indeed, there is one measurement that has had some reliability in allowing me to potentially forecast a bad day, heart rate variability. A rapid decline in this metric in the past has been an accurate predictor of a bad day or series of bad days, though I generally know the moment I awake in the morning what kind of day I will be facing, without having to view the data.
I am not alone in this scenario. In fact, these days I have ample company in the category of unusual diagnosis with an unknown progression. The emergence of COVID-19 has been a global lesson in how to deal with a novel disease that induces an uncertain future. Indeed, you may contract COVID-19 and be completely asymptomatic. However, you may contract the virus and go through a terrifying sequence of symptoms, possibly requiring hospitalization. For many, isolation, whether out of fear or public health measures, is a reality. Some who fall ill are forced to battle the disease from home, alone and without immediate medical supervision, feeling symptoms worsen and fearing the worst outcome.
How can the medical profession help, encourage and support those with too rare or too new of a disease that mass-medicine has not yet had the time or resources to focus on the problem?
The professionals who make up our health networks, hospitals and primary care facilities are nothing short of amazing and do their best each day to improve the quality of life for their patients. But there are instances where medicine does not yet have a complete answer for a situation. Then what?
By their nature, rare diseases or novel viruses are difficult to diagnose and to predict because they are indeed just that – rare, or new. However, there is a great commonality between them: each disease has a patient, a person; someone who can offer a perspective to others fighting the same or similar illness; someone who potentially has ample first-hand experience living through a prognosis that could benefit someone else. In a strange way, if I could share my experience with someone and help eliminate the gaps or missing puzzle pieces for them, that would not only help them but me, too. There could be some good to come from a rare diagnosis, rather than decline, uncertainty and a lifespan ended early. I would feel genuinely useful, regardless of whether the good days outnumber the bad.
Medical professionals cannot be available to every patient 24 hours a day, seven days a week. But, networks of likeminded, or in this case, like-symptomed or diagnosed people could be. A reliable, secure network where general information can be shared, and where people going through similar situations can encourage and comfort one another, can have enormous positive impacts. For those suffering with a chronic disease, or otherwise, the simple knowledge that you are not confronting disease alone can add hope, but also strengthen a burdened healthcare system.
For a COVID-19 sufferer who is isolated at home, having a network or simply a single like-diagnosed person to reach out to could mean the difference between panic or a more considered approach to a new symptom. For someone with a rare disease, a connection with a similarly diagnosed patient, or a patient undergoing a similar situation can be a guiding light – a kind of medical sponsor of sorts, not unlike the structure of support groups dealing with addiction.
I find myself in the unique position of being both an “interesting medical case” yet one that has been understudied to date. A medical case for which answers exist as to what does not work for treatment but for which answers do not exist for the patient experience. I might be dying but I still have life to live. What will it be like? More than willing to take part in tests to discover more about CAEBV, I am unable to find current research studies on the issue within Canada. I am willing to be a support for others with the same diagnosis but I am unable to find individuals who are still surviving and who have officially been diagnosed in order to offer comfort and friendship.
There is a famous line attributed to Edward Trudeau and related to health professionals, “cure sometimes, treat often, comfort always.” Where medicine falls short of addressing the full range of a disease, comfort is what remains. Comfort from the medical team but from a reliable support network and yes, other patients, too.
If medical treatment is not an option due to an overwhelmed system in the time of COVID-19 or the limitations of modern medicine mean that “cure sometimes and treat often” may not be options, the promise instead lies within “comfort always,” which can be achieved outside of a hospital room but may in fact be just as medically impactful.