As a medical student training in a tertiary hospital, I was exposed to many rare diseases. We often studied these conditions thoroughly, knowing they were likely to appear in our exams. Although only a small percentage of patients ever reach tertiary hospitals, where they are seen by specialists—and nowadays, often super-specialists — rare diseases are, in fact, not so rare in a medical student’s training. Yet for a general practitioner, it is quite possible to encounter only one or two such patients in an entire career.

I’ve noticed that I become much more alert to these conditions when I know someone personally — a friend, family member, or acquaintance — who suffers from one.

Recently, a patient came to me with extreme joint mobility, widespread joint pain, and overwhelming fatigue. One relatively rare condition that can present this way is Ehlers-Danlos Syndrome (EDS), a group of genetic disorders affecting connective tissue. Since I have a relative with EDS, I was immediately more engaged with this patient. I researched the criteria for assessing hypermobility and consulted a physician at our regional hospital. The opinion was that this was likely not EDS, but rather another hypermobility syndrome. As there is no curative treatment, supportive management was recommended.

Still, I felt determined to help the patient reach a more definitive diagnosis. I arranged for him to be seen at the genetics clinic at the nearest tertiary hospital. A few months later, after his consultation, he forwarded me a detailed specialist report confirming the diagnosis of EDS.

When I saw him again, he was deeply relieved. Even though there is still no cure, the certainty brought peace of mind. He now experiences less anxiety when new symptoms appear, understanding that they are part of his condition. He has also learned to regulate his activities according to his fluctuating energy levels. On days when he feels exhausted, he allows himself to rest without guilt. His family, too, has become more supportive, knowing that his struggles stem from a real, recognized condition. I was also able to facilitate the process for him applying for a disability grant.

Looking back, I’m also mindful of confirmation bias - the tendency to see what we already expect to see. In this case, my prior awareness helped open a door. But bias can also close doors when we only look for what fits our existing frame.

Sometimes, what we can offer is not a cure but clarity. And clarity itself can be deeply healing.