“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向我解释说，虽然每百万只有5人的状况与他相同，但在他们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?

在随后与D的长时间缩放电话中，我能够探索他引人入胜的诊断奥德赛。这包括在军事领域的充实职业，该职业受到急性疾病时期和健康状况的总体下降。最终，对艾迪生氏病的诊断，肾上腺无法产生足够的激素，并在医疗场上从军队中解散D。他一直在寻找他所爱的职业生涯的终结的诊断。可以理解的是，他感到有些失落，不确定未来会有什么。

现在，我看到一群共同努力的患者非常强大，因为患者的经验对于诊断和管理罕见疾病的协调至关重要。

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家庭.

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.

在与D交谈之前，我误解患者组织（如名称所建议）的患者，对临床医生的价值有限。现在，我看到一群共同努力的患者非常强大，因为患者的经验对于诊断和管理罕见疾病的协调至关重要。

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:

“有些人将[Addison病]作为一种残疾。我不这样认为。这是您必须管理的限制。”

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.