Why a Rare Disease Diagnosis Matters Beyond Treatment

Recently, a friend of mine, Fiona, visited her cardiologist. She has been having some troubling symptoms that have been going on for several years now.

Although she had been to this doctor previously, she felt she hadn't been taken seriously. Because of this, Fiona was back at it, trying to figure out why she doesn't feel "normal." This time, she brought her own research to the table.

Advocating for a diagnosis

When Fiona spoke to her doctor, he confirmed that the diagnosis she suspected would fit the symptoms she was experiencing. However, he explained that even with a diagnosis, it "wouldn't change anything."

She pushed back, asking that he perform the test to confirm the diagnosis anyway. Through this act of determined patient advocacy, she stood her ground. After some back and forth, he relented and agreed to the testing.

Within minutes, someone in his office performed the test. As suspected, Fiona "failed" it. The result was confirmed immediately, and Fiona was diagnosed with POTS, or postural orthostatic tachycardia syndrome.

The validation of a diagnosis

After leaving the doctor's office, Fiona called me and recounted the whole episode. She shared her relief about finally having a name for the group of symptoms that she experiences.

After years of medical professionals and family members dismissing her symptoms, she finally felt validated. It felt as though a huge weight had finally been lifted, and she knew I could relate.

Does having a diagnosis change anything?

We talked about the doctor's hesitation and the idea that having the diagnosis wouldn't change anything. He was right in one sense. Medically speaking, having a name for the symptoms does not change her current treatment plan.

Following the diagnosis, she wasn't given any new medications. She wasn't told that she would need more frequent trips to the doctor to follow up, either. The doctor simply suggested a few small lifestyle changes and sent her on her way.

Relief and understanding

We agreed that the doctor's view was decidedly limited when he told her that confirming the diagnosis wouldn't change anything. As soon as she "failed" the test, she said that she was flooded with relief.

Fiona finally has an explanation for the constellation of symptoms that disrupt her life. As so many people with rare diseases know, getting a diagnosis can be very validating, even when it doesn't change the day-to-day management.

Connecting with a community

In addition, she now belongs to a community of others who live with the same condition. With a formal diagnosis, it's much easier to seek out and connect with others on a similar journey. 

People who live with the same condition can share their lived experiences about what has helped them and what has exacerbated their symptoms. In my own experience, I have found building this kind of patient support system to be invaluable.

Beyond treatment: The benefits of a rare disease diagnosis

I'm not currently on any medications for the management of my own disease. But having an official diagnosis and being a member of many neuroendocrine communities online has been extremely beneficial for me and many others navigating rare conditions.

Oftentimes, I'm able to get a more nuanced view of something when I speak to other patients. Medical professionals can explain the clinical expectations of a procedure or a new medication. However, there is nothing quite like hearing directly from people who have actually been through it.

The practical tips that other patients provide are incredibly helpful. They're often things that my doctors just haven't thought of, simply because they haven't lived through it themselves.

Finding strength in numbers/h2>
Doctors gave me one lens through which to view my illness, but the community has given me many different lenses through which to view my condition.

An online support system has helped me feel less alone as someone living with a rare disease. Not only that, but my community has inspired me, motivated me, and shown me everything that is still possible while living with this illness.