My Cancer Turned Out to Be a Rare Disease

As told to Jacquelyne Froeber

“I’ve never seen anything as invasive as this in my life,” my surgeon said.

I was still groggy from the anesthesia, but the look on his face meant what I heard was true. Apparently, I was in surgery for six hours — not two — and whatever was growing in my ear was also in the layers of tissue protecting my brain.

“It looks like cancer,” he said.

Shock doesn’t even begin to describe what I felt at that moment. I went in for an ear infection. Now I have brain cancer?

It all started innocently enough. In January 2011, my right ear was full of pressure and everything sounded muffled, like I was underwater. But I didn’t think it was too serious. January was actually a really happy and exciting time. It was the month my first granddaughter was born, and I couldn’t think of a better way to start the new year.

I was diagnosed with a mild ear infection, so I took antibiotics but they didn’t help. Nothing did. I was eventually referred to an ear, nose and throat (ENT) specialist, but it took months to get an appointment. When I finally got in to see the specialist, I had a scan of my ear. The imaging showed that there was a mass, so they did a biopsy right away.

It was after the biopsy surgery that I learned that the mass was also in my brain and probably cancerous. But the pathology report came back negative. “How is that possible?” I asked. My provider was stumped. He said the tumors acted like cancer, so we were going to treat it like cancer — very aggressively.

I had surgery to remove the tumors — and that surgery was a success — but six weeks later, the mass was back. And two weeks after that, another mass was growing in the left side of my head. It took five surgeries to remove that one.

We still didn’t have confirmation that the tumors were cancer, but I started radiation to try to stop them from growing. I’m a radiologic technologist by trade, so I understood the effects of radiation treatments — but I didn’t know how terrible the side effects were going to be for me. The treatments left me weak and drained of all my energy. I was also having debilitating headache attacks that felt like a sledgehammer to the skull.

On top of everything, the radiation wasn’t working. And at that point, the mass had damaged the hearing structures in my right ear, and I needed surgery for a cochlear implant.

(Photo/Courtesy of Sabrina Riddle)

By November 2013, I was worn down. Exhausted. Depressed and unable to hear out of my right ear. With my granddaughter’s second birthday approaching, I could only think one thing: I’ve been in this fight for two years and here comes another year I’m going to have to deal with whatever this undiagnosed thing is.

I’d seen many specialists in effort to get a diagnosis and treatment plan. But one particular rheumatologist was curious enough to order a spinal tap. When the results of the spinal tap came in, she said, “I think I know what you have, but I can’t diagnose you. I need you to go to Massachusetts to see the leading researcher for this disease.”

She didn’t have to tell me twice. I packed my bags and met with the specialist the next week. His name was Dr. Stone, and he told me I had immunoglobulin G4-related disease (IgG4-RD) — an extremely rare inflammatory disease. He explained to me that IgG4-RD causes tumors to form in different parts of your body and it looks and behaves just like cancer because it’s so aggressive — but it’s not cancer.

I sobbed with relief right there in his office — I finally had a diagnosis. But I was also crying for the past three years of my life. All of the surgeries, multiple hospitalizations, the boatload of steroids — and they have their own set of issues — none of it helped. I don’t fault the doctors for any of it, but I’d been through a lot. And if that was the treatment for cancer — what would treatment for a rare disease like this one be like?

Dr. Stone is known as the godfather of IgG4-RD, and he reassured me that my new treatment plan was going to work and it wasn’t as harsh as radiation. I started a biologic infusion and right away I began to see signs that the disease was going into remission. It felt like a weight was being lifted off of my life. For the first time in a long time, I felt hope for the future.

I started feeling better — I had way more energy, fewer headache attacks and visual disturbances, and improved joint pain. I even got a little cocky, thinking I was a one-and-done and I could put the disease behind me.

But that wasn’t the case. In 2015, I had a relapse. It started with blurred vision and severe headache attacks — and this time the cognitive decline was swift and shocking. I was devastated. I had the treatment infusion, and within about two months, I started to feel more like myself again. But when I relapsed again in 2017, I realized that this was probably going to be a pattern for the rest of my life.

Each time takes a toll. The effects of IgG4-RD disease on the layers of my brain (called meninges) can cut off oxygen to the brain and arteries and cause seizures, so I am really concerned with each flare because I don’t know what might happen each time it comes back.

Last November, I was on the phone with my sister and I just lost it. I felt like the disease was looming over my life, even when I was in remission. The loneliness that comes with having a rare disease adds another layer of sadness and despair. I didn’t have a single person to talk to who really knew about what was happening to me or understood that I looked OK on the outside, but I was the furthest thing from OK. I told her I wished there were more advocacy around the disease.

About a week later, I got my wish. An advocacy group called me and asked if I’d be interested in speaking at a conference about IgG4-RD. I was so shocked I nearly dropped the phone. By December, I was on a plane to the conference, and since then I’ve been working as a patient advocate for IgG4-RD.

Through my new platform, I connect with other patients with IgG4-RD, as well as caregivers and healthcare providers trying to advance treatment for the disease. Having a community has been a life changer for me. Having a rare disease is exhausting — especially one that affects your brain. But I now know that I don’t walk this road alone.

Right now, I’m going through a relapse and it’s hard. The pain is sometimes unmanageable and the heavy doses of pain medication weigh me down. But in the past year I’ve seen so much advocacy and research that makes me hopeful for the future. And sometimes all you can do is keep hope alive while you wait.

This educational resource was created with support from Amgen, a HealthyWomen Corporate Advisory Council member.