When You Get Misdiagnosed Because You Have a Rare Disease

During the second major hospitalization I had after becoming sick, the local adult cardiologist and my primary care doctor came in my room around 10 p.m.  They looked very serious and announced I had pulmonary hypertension. They talked about transferring me to a better-equipped hospital, and about doing a bunch of other things. Eventually, they decided to let me stay at the local hospital and talk to me in the morning.

That night, as I laid in bed thinking about all those serious faces, how my mom had been so concerned when she said goodbye… I didn’t really get it. So I Googled “pulmonary hypertension.”

And as I read it, I started to cry.

I cried and I cried in my bed, reading how pulmonary hypertension could lead to death and I might slowly die of lack of oxygen.

Eventually one of my nurses came in for rounds. She saw that I was crying and I told her what I had discovered about pulmonary hypertension. She stroked my hair and let me cry. She told me everything would work out one way or another. I cried and cried, thinking I was dying all night. The next morning the adult cardiologist came into my room, and he told me that he was wrong about me having pulmonary hypertension. He had spoken with the head of the adult congenital heart clinic and that with my anatomically backward heart, this was actually a normal echocardiogram for me and that I wasn’t dying.

I had an adult cardiologist read the echo, and the adult cardiologist came to a conclusion anyone would, anyone with any other heart patient besides me —pulmonary hypertension.

But me, being the unicorn that I am, don’t work that way. I have a rare heart defect called congenitally corrected transposition of the great arteries (CCTGA). It is a heart condition I was born with. Basically, my right ventricle and left ventricle are inverted, but my heart kind of made up for it and corrected itself by reversing my valves too. This was when I was new to my illness, when I would still Google everything the doctors told me I had (or apparently what they thought I had).

So let me stop you right there. Here’s my advice:

Try not to Google a medical condition before you are sure of your diagnosis, or if you are having random symptoms.

Google will most likely convince you that it’s not a sinus infection, it’s cancer. It’s not a headache, it’s a brain tumor. Google leads to many a spilled tear, many a self-diagnosis. Googling what the doctors said I had led me to cry myself to sleep, have a panic attack and start planning my own funeral in my head.

Google is not a replacement for a real doctor.

Doctors are doctors for a reason. They go through a lot of school and a lot of training. They can tell things by feeling your body, looking at you, watching you walk, or close your eyes and touch your nose, and by things you don’t even think matter. I had a doctor do a physical exam on me, tell me what was wrong before any imaging, and it turned out he was right. When my adult cardiologist came in the room and told me I had pulmonary hypertension, he was right. That’s what the test showed. Any other adult cardiologist with no training in pediatric cardiology and congenital defects would have thought the same thing. They had to bring in the expert to understand what was going on with me.

Looking back on the whole experience, I realize I was crying over a disease I didn’t have, a misread test result. But to me, when I was experiencing it that night, it was real. I was dying. I was out of time. But doctors make mistakes.  Medicine sometimes is a “best guess” scenario. We have come so far, but there is still so much we don’t know. Doctors go based on the information they have at the time, and they will never say something off-hand because of malpractice issues. If you have a concerning symptom, go to the doctor, Not Dr. Google.

Keep going, until they figure out what is wrong.

This incident was two years ago. Since then, I’ve been working my way through different specialists and doctors, still trying to come up with the right treatment plan and best medical care for me.

It takes time. It takes patience. It takes courage.

And of course, self-discipline, so you don’t start Googling everything again.

Follow this journey on Living Without Limits.