“So, how much do you know about rare diseases?”
This was the first question posed by my patient partner for the Student Voice Prize, D. With a slight sense of shame, I admitted that I didn’t know much. I had become victim to the trap that many medical students fall into, of seeing a low prevalence statistic for a particular disease and concluding that it was very unlikely that I would see anyone with that condition in the future, proceeding to focus my revision on the illnesses that I considered to be more common.
Was I letting down my future patients by not knowing more about rare diseases?
D proceeded to explain to me that while only 5 people per million had the same condition as him, 1 in 17 people will be affected by a rare disease at some point in their lifetime.
My initial reactions to this fact were shock and then a sense of guilt. I entered medical school to become a doctor, not just to pass exams. Was I letting down my future patients by not knowing more about rare diseases?
In the subsequent hour-long Zoom call with D, I was able to explore his fascinating diagnostic odyssey. This included a fulfilling career in the military punctuated by periods of acute illness and a general decline in health. Eventually a diagnosis of Addison’s disease, a condition in which the adrenal glands don’t produce enough hormone, was reached and D was discharged from the military on medical grounds. The diagnosis that he had been searching for spelled the end of the career that he loved. He was left, understandably, feeling a bit lost and unsure of what the future would hold.
Now I see that a group of patients working together is extremely powerful, as patient experience is central to the coordination of the diagnosis and management of rare disease.
Upon first speaking to D, I expressed an interest to learn more about Addison’s Disease and he pointed me towards the website of the Addison’s Self-Help Group. Initially I was skeptical about what I could learn from a support group website, but I couldn’t have been more wrong. The site offers a myriad of useful information, aimed at clinicians, patients and their families.
Through conversation with D, it is clear that the Addison’s Self-Help Group has played a massive role in supporting him to learn more about and manage his disease. Speaking to others on online forums and at in-person meetings has given him the chance to share experiences of Addison’s with others and both receive and provide support. Reading articles on the treatment of Addison’s Disease and prevention of Adrenal Crisis have allowed him to gain knowledge that backs up his lived experiences and helps him to coordinate and manage his care.
Prior to speaking to D, I was of the misconception that patient organisations were (as the name suggests) for patients and were only of limited value to clinicians. Now I see that a group of patients working together is extremely powerful, as patient experience is central to the coordination of the diagnosis and management of rare disease.
Transitioning forward to the present day, D has been contributing to the organisation of the Addison’s Self-Help group and enjoys the feeling of “giving something back” to those who are newly diagnosed. Post-diagnosis, he continued to work in defense in some of the most dangerous places in the world, carrying three months of medication at a time and making sure his colleagues knew what to do in an adrenal crisis. Speaking about his condition now, D says:
“Some people talk of it [Addison’s Disease] as a disability. I don’t see it as that. It is a limitation you have to manage.”
We, as the medical professionals of the future, have the ability to give rare disease patients like D the confidence to manage their conditions and change their own perceptions of illness. It is easy to fall into the trap of telling patients what not to do post-diagnosis, especially with rare conditions where we may be less familiar with the disease. Instead I believe that it is important to work with patients, their families, and other members of a multidisciplinary team to find solutions that allow them to live their lives with as little interference from rare disease as possible.