Having a Rare Disease

It is hard to fully describe what it is like to be diagnosed with a rare disease. I have had my diagnosis now for 14 months and I still feel lost. Denial and disbelief are common emotions to feel when sick. They are even more common in a population of patients that has no one to commiserate and empathize with. You see, that’s the catch, a rare disease is… well, rare.

I know this may seem obvious. A rare disease being rare, but have you truly considered what that means? It’s not just rare to the patient, but also to the patient’s family and friends. A rare disease is also rare to the doctors as well as, and most importantly, rare to the researchers – the people who are responsible for future treatments and cures.

But what does this mean? Practically, in every-day life for someone who has to live it? Aside from my family, who also have what I have, I have never met another person who has the same disease. There are no commercials for my disease. No one has even heard of my disease. So support from friends? Almost non-existent. Partially due to the fact that I don’t bother to tell many people, but also due to the fact that when I do tell some, they just don’t understand it. This isn’t for lack of concern or sympathy, but how do you understand something that you have absolutely no background knowledge in? I at least know first-hand what the rare-disease does to my body, if you can consider that a good thing. I don’t.

So what did I feel when I was diagnosed?

At first there was relief. I had an answer. Even more importantly, I had a name that I could use as a sort of defense. Before diagnosis, doctors would often say that I was either not feeling the symptoms as I said I was, or that my symptoms were due to anxiety. In case you don’t know, “anxiety” is a favored diagnosis for female patients who complain of any heart-related symptoms.

“Oh she has an increased heart rate with palpitations? Poor thing, her innately weak constitution (as is inherent in the female condition) is getting to her. Tsk tsk.” *sarcasm*

My diagnosis has been a defense against that. An almost unbeatable trump card. But what I hadn’t counted on is that doctors still don’t know what to do. Again with that tricky word: “rare”. I am often the first patient with my disorder that a doctor has seen. Most haven’t even encountered my disease aside from a brief text-book explanation years ago in medical school.

So what do I feel now, over a year after being diagnosed with a rare disease?

Loneliness and defeat. What do I do now? When does the fight stop? Fighting for care, fighting for support, fighting for understanding… all of that is something that people don’t consider to be automatically lumped in with “fighting for my health. Fighting for my life.”

I now understand that it all is lumped together. And I am tired.


Rare Disease Awareness

Rare Disease Day came and went (in February) and I didn’t write a blogpost. That makes me a pretty bad rare-disease advocate doesn’t it? Oh well, better late than never….

So what does it feel like to have a rare disease?

It’s like I can’t breath. I am going through my day, and all of a sudden something catches me, draws me back, and I’m left gasping.

It’s like I can’t function. I will be living my life normally, when all of a sudden I am reminded that my life is far from normal. Nothing says “abnormal” like wearing a heart monitor to your 8am class.

But most of all? Having a rare disease is like being gagged. I feel constantly silenced. In a society were it is expected that people are always cheerful, optimistic, and ok, while looking on the bright side of things, there is very little empathy for someone who says “well, actually, I’m not doing very well.” There is even less empathy for someone who is not doing well because of a disease that is very rarely known and never heard of.

Admitting to having a rare disease is like admitting that your skin is actually purple. It’s incomprehensible to most people, hard to relate with, and the real tragedy of a rare disease is the fact that even most doctors have never heard of them.

Imagine watching a loved one live and possibly die with a disease that no one knows and that has no treatment.

Imagine the loneliness and sorrow and having to deal with all of the pain on your own.

Because, you see, there are no commercials for a rare disease, no charity walks, no people showing up at your door with a cooked dish…nothing. There is nothing in the way of support with rare diseases.

It really is enough to take your breath away.