I’ve been sick my entire life, and no one could tell me why. I was 54 years old when I was finally diagnosed with an invisible illness last year.
For years, I had tried to explain what was going on to doctor after doctor. I had these really weird symptoms, so doctors had these really weird responses. They would get mad at me, blame me. I could see them rolling their eyes, hear them sighing. It was all very unprofessional. They would look at me like I was wasting their time. To be fair, they didn’t understand.
I remember once trying to describe muscle spasms or cramps I was having. I was in huge amounts of pain from these spasms all over my body. The doctor told me, “They’re not cramps or spasms. You’re perfectly normal.” I knew this was not normal. But rather than admitting there’s something wrong but we don’t know what it is, the default was to say I was normal.
I hid as much of my disease as I could. I pretended to be normal. The person I was projecting on the outside was very different from me on the inside.
A lifetime of symptoms—with little help
My mom had mysterious symptoms of her own. She always had problems going to doctors; they couldn’t work out what was wrong with her—or with me. She had taken me to many doctors, but when my symptoms got worse when I was 10, a doctor told her for the first time it was probably all in my head.
Frustrated that neither of us could get a diagnosis, she gave up on taking me to the doctor—they did nothing to help. Test after test after test showed nothing was wrong.
From her own experience, my mom knew some ways to help me, at least a little. For example, years before, she had worked out on her own that to manage her symptoms, she needed to eat sugar basically all the time. She made me eat this way too.
I was always cold; my body couldn’t maintain its temperature. I was always dressed way too warm for what anyone else thought was appropriate, so it seemed like almost on a daily basis people would make derogatory comments or make fun of me for being overdressed.
I was always smart, but I had trouble learning; sometimes words sounded jumbled. Even today, it’s hard to retrieve information I know. Throughout my career, there have been gaps in my progress where I’ve struggled with my health and hardly accomplished anything.
During my postdoctoral work, I got really, really sick. I was so weak I couldn’t exercise—at times I could hardly walk. I had been diagnosed with asthma, but it turned out that my breathing problems were due to muscle spasms. I had also been having seizures and what’s called “metabolic crashes” at home. I had even lost some short-term memory.
One doctor I saw around this time brought a psychiatrist into the room to talk to me without asking me first. I refused to talk to her because I knew this was a physical problem. The doctor made a permanent record in my file that I was a patient with a psychological problem. He made it clear he thought I was wasting his time: He told me no one would believe me, and that if I wanted to pursue treatment for a physical problem, I’d have to go to doctors outside of my university’s system. I was a student and couldn’t afford to do that.
Because I looked normal, and because my symptoms didn’t make sense within the medical framework we knew at the time, my husband of nearly 20 years sided with the doctors. It didn’t matter that I was saying I had these symptoms: the tests weren’t proving anything. He didn’t understand why I couldn’t, say, go out for a hike for hours without eating. He didn’t want to stop for food and rest. He didn’t understand why I was so cold or sometimes couldn’t walk. He thought I was having emotional tantrums or didn’t want to do what he wanted to do. It was just an impossible situation. We got divorced in 2014.
Piecing together the puzzle
Even though my symptoms made school challenging, I had always been high-functioning enough to figure out workarounds. I would have trouble understanding my teachers, but I’d be able to figure out things like reading or math more easily on my own. I didn’t have good grades, but I continued to pursue a PhD because I was so interested in science, and ultimately landed a job in research. When I first started working at Mayo Clinic in 2015, where I research myocarditis and sex differences in inflammation, I went to see a neurologist who specializes in migraines.
He recognized my symptoms right away as signs of a type of mitochondrial disease, an umbrella term for a group of genetic disorders that affect around 1 in every 5,000 people. One of the common symptoms of mitochondrial diseases is migraine, so my neurologist was familiar with both conditions. He referred me to a geneticist who finally was able to diagnose me with mitochondrial disease after 54 years using a test called a whole exome sequence. He also tested the genome of my mitochondria.
We all have mitochondria in our cells. If a cell is a car, mitochondria are the engine. Sugar provides energy—it’s the gas for the engine. If you have a mutation in your mitochondria, your body may not make or use energy correctly, which can lead to all different kinds of symptoms. For this reason, it can be very difficult to diagnose mitochondrial disease.
I really was having classic symptoms, but it never occurred to me or my doctors then that I had a genetic disease that no one knew about. Now, there are ways to detect what was wrong on a cellular level, but of course this didn't show up on a blood test or CT scan or tests that were available when I was younger.
It was incredibly overwhelming to finally get a diagnosis. For so long, I had been afraid to tell people my really weird symptoms because I was afraid they’d think I was crazy. Now I was able to start putting everything in context. Suddenly I had a frame of reference for all these things that had happened to me. Everything started making sense.
But it was traumatic at the same time. I had faced so much rejection and there was so much I had never been able to tell anyone. I always felt alone. That was the very worst thing about living with an invisible illness. But telling people in my life what was really going on made me feel rejected all over again. People responded in many different ways: Some didn’t want to hear about it; others would say unsupportive things like, “Well, you’re not dead,” or “You’re not in a wheelchair, so you’re fine—what’s the big deal?”
People close to me found it hard to hear about, wondering how this could all have been going on with my health and yet I had never told them. Other friends and colleagues were surprisingly compassionate and understanding. I’ve considered contacting my ex-husband now that I have a diagnosis, but I haven’t done that yet because it’s still so emotionally charged.
Staying healthy with my invisible illness
There is no cure for mitochondrial disease, and treatment options are limited. For many patients, there’s nothing that helps. I appear to be low in a specific enzyme, CoQ10, that I can get in a special supplement for patients with mitochondrial disease. I also take antiviral medications—for so long I had chronic viral infections that I couldn’t get rid of, so that has helped a lot. I was in agonizing pain every day, but I didn’t realize how bad it really was until these treatments started to provide some relief. I’m going to research medications that seem to be helping my muscle spasms and stopping my seizures to see if they could have a benefit for other patients with mitochondrial disease.
As a teenager, I decided to rebel against my mom and eat my own way. But I got really, really sick and went back to eating sugar every few hours. Now I know I feel my best if I eat sugar and fat every few hours. I even set an alarm to wake up during the night to eat. When I was feeling my worst, I ate a lot of chocolate truffles and I was just gaining and gaining weight. With my medications, I have been able to diet for the first time in my life without having a metabolic crash.
There’s some preliminary evidence that getting complex carbs and plenty of fat can help people with mitochondrial disease. I’ve found starchy foods, like potatoes, work better for me than simple sugar, which the body burns too fast, so I keep 150-calorie snack bags of potato chips with me all the time.
Along with my snack supply, I carry a backpack with an emergency letter explaining step-by-step instructions for my medication. And my phone is full of alarms that I depend on to remember the times to eat and take my medicine.
When healthy mitochondria make energy in the body, they also give off heat—I finally understood why I’m always cold. I wear a winter jacket all the time, and I live in Florida. I keep my office very warm, and I have an electric blanket and a heating pad there. I travel with an electric blanket too.
I’m learning how to take more time off to rest and recover. Instead of working late, I go home and sleep. I didn’t do that before because it was my habit to just keep going because I was always behind.
I have to think about my health all the time every day to stay stabilized. I’ve been doing it my entire life, but now I know why. It is tiring, but when I don’t, I have terrible symptoms, so it’s worth it.
Today I have “white coat hypertension”—doctors literally make my blood pressure rise. Every time I visit a new doctor, my blood pressure goes through the roof, but I have great relationships with the doctors I see now. I think I also have what people are just starting to call “medical PTSD,” or post-traumatic stress disorder, after a traumatizing medical experience.
I worked all my life to appear “normal,” but now I can start to discover who I really am. Now that I can explain what’s going on, I can become a new person. I feel like I recognize myself in the mirror for the first time.
If you have a story to share about living with an invisible illness, email us at firstname.lastname@example.org