Patient Stories

My story begins in College Station back in 1983 when I was just 22 years old. My co- workers noticed a lump in my neck. Only then did I realize that what I thought was a calcified lymph node from having mono a few years earlier had grown. A visit to my doctor raised much concern. The lump was actually pulsating. He thought it must be an aneurysm or perhaps lymphoma – neither were good. I had been seeing him frequently for increasing migraines – complete with visual disturbances – that were becoming debilitating. He sent me to a vascular surgeon in Houston’s medical center. There, after an arteriogram, they diagnosed a carotid body tumor and scheduled surgery almost immediately.

Nobody had prepared me for the fact that I would wake up on a respirator. My neck and throat were so swollen they were afraid I couldn’t breathe. The surgeons were unable to peel the tumor off the artery. As a result, they ended up performing a bypass, removing the carotid artery and building a new one from a vein harvested from my thigh. I had some facial paralysis after surgery, but it eventually got better.

It took several days to get the results back, but the word they used was “benign,” which was good news. No follow-up or treatment was needed. They told me it was a paraganglioma, a very rare tumor, especially in someone so young. I remember their telling me that they had presented my case at a conference to teach other clinicians and students about this type of tumor.

I was in the hospital for 10 days. The day after I was discharged, my husband graduated from vet school. Then within the next week, we closed on our new house, moved to Houston, and started new jobs. My migraine headaches stopped, but the doctors said that was only a coincidence and that migraines and carotid body tumors were not related. My health remained stable for years to come.

In 1990, my father found a tumor in his neck. Same thing – carotid body tumor! He went to my same surgeon who told us he had not operated on a CBT since mine in 1983. That told me that this tumor was really rare. We inquired about the hereditary nature of this tumor, but nobody seemed to know anything about it then. His tumor was removed successfully without a vein graph.

Fast forward to 2003. I was then 42, about 20 years after my original CBT. After falling while water-skiing, I thought I had broken a rib (or two). My sternum and ribs were very sore, and it was difficult to take a deep breath. Knowing there was nothing you could do for a broken rib, I waited to see a doctor. Eight weeks later (yes, I checked the calendar since someone told me it takes 8 weeks for a bone to heal) the pain seemed to be worse, not better. I couldn’t even wear a belt because it would touch my ribs when I sat down. This wasn’t normal.

I saw a doctor. It was my first encounter with her, as we had moved to Dallas and I had not found a new doctor yet. She ordered a chest X-ray. Her concern was that I had not been expanding my lungs, and I could have developed pneumonia. The X- ray showed my lungs were clear but there were funny spots on my ribs and spine. It was not a fracture like I thought. No, it was something more suspicious!

The next test was a bone scan. (They inject you with a radioisotope and see where it lights up in your body in this test.) The patient can see the entire body image on the screen, and I could tell it wasn’t normal. I could see bright spots all up and down my spine, ribs, and on my pelvis. The tech asked me if I had cancer. Really?? Someone should have trained him better.

It was late on a Friday afternoon, so I didn’t get those results until Monday. The doctor called me but asked me to come to her office for the results. In fact, she told me I’d better bring my husband. This couldn’t be good news.

The suspense was killing me, but I knew it was cancer. I was not surprised when she used that “C” word. The only problem was that this looked like metastatic disease, yet we had no idea where the primary was. Bone mets were most common with colon or breast cancer. So they began a battery of tests to search for the primary site. However, everything was negative. The only way to figure it out was to obtain some tissue.

The radiologist performed a CT guided biopsy of the largest tumor in my spine and sent the sample to the lab. Maybe I didn’t mention this, but I worked in the lab (in fact at that time I was the lab director).

At first the pathologists were stumped. But after several stains and different biochemical tests, they finally called it paraganglioma. What? OMG, I hadn’t heard that word for 20 years. Besides, wasn’t it benign back in 1983? How could it have metastasized to my spine? How is it growing in my bones?

My doctor was unable to find an oncologist in the area who knew anything about paraganglioma. That’s when I began researching on my own. After combing the internet, I found that the University of Pittsburgh was doing research on genetic testing for paragangliomas. I sent my blood to them, and they reported that I was negative for the SDHD gene, but there was some variant of the SDHB gene. At the time its significance was unknown, so this information was not particularly helpful.

Having connections in the medical field, I found an oncologist willing to accept me as a patient, even though he admitted he didn’t know how to treat this. After MRI’s, PET scans, CT’s etc., even he believed I didn’t have long to live. The cancer was aggressive. One of the tumors was pressing on my spinal cord and would need to be removed before I became paralyzed.

The first neurosurgeon I saw in Dallas took one look at my films and said he would not operate. He stepped out of the room and told my husband to take me home and enjoy the little time he had left with me. He told him the trauma and pain of the surgery would sacrifice the quality of life I would have for the rest of my days (yes, days). Needless to say, I kept looking for a more optimistic surgeon.

I wasn’t ready to give up. At that point my oncologist started aggressive chemo and radiation. This was probably the roughest time. When your immune system is depressed, it’s easy to get sick. After a stint in the hospital for fever, I was very weak. I fell and broke one of my vertebrae. This tumor sucks the calcium from my bones, so they are very brittle and susceptible to fracture. The radiation had caused damage to my esophagus, which made it impossible to swallow for weeks. Follow- up MRI’s showed no response.

More internet searches revealed some articles about paraganglioma written by an oncologist at MD Anderson who had treated a few patients. I was able to get in to see him right away. He recommended a different chemo regimen. However, after three different chemos and all that radiation, the tumors were not shrinking at all.

I was referred to an oncologic neurosurgeon at MD Anderson. In June of 2004 he agreed to operate on my spine to remove the largest tumor that was compressing my spinal cord. This surgery was a breeze compared to the chemo and radiation treatments. I was back at work within 2 weeks. My only lasting effect of the surgery is a curvature of my spine. It makes it difficult to stand up straight. I have chronic back pain, but it’s controllable with medication (or lying down).

Over the next weeks, months, and now years, we have continued to watch the tumors to be sure they don’t cause paralysis or other neurologic effects. I also have to watch for bone fractures. I can’t really do heavy lifting, rigorous exercise, roller coasters, or anything similar. My oncologist is giving me IV osteoporosis medication to help strengthen my bones. Currently (now Jan. 2013), I’m down to once a year visits at MD Anderson for an MRI.

From 2003/4 until very recently, I haven’t done much searching online for information about paraganglioma or new research in the field. In late 2012, MD Anderson sent letters to all paraganglioma patients in their system to tell them about the new genetic markers that have been discovered. They suggested I schedule a genetic counseling visit, which I had in December. The counselor was so excited that I had saved my genetic tests from the University of Pittsburgh. Now we definitely know that SDHB variant is significant. It’s likely my dad had the same variant, but we were unable to test him. He died of colon cancer in 1997. The genetic counselor is the one who told me about the Pheo Para Alliance, Pheo Para Troopers, the Pheo Para Facebook support group, and more.

Since that visit, I’ve been consumed with reading other patient stories, and I have to say, most of them are much worse than my story. I wanted to write a story that might encourage others who are newly diagnosed or just learning about this disease. My case involved a tumor in my neck early on. Then it remained quiet for 20 years; and, while everyone freaked out about it when they found it had metastasized, it’s really not bothering me very much. My tumors don’t seem to produce the hormone that so many speak of, so I’m lucky in that regard. I lead a pretty normal life, working full-time. I have a beautiful family, and I intend to grow old with them.

My only worry now is that we haven’t been looking for other tumors. It seems the literature suggests that if I have the SDHB variant, I could develop tumors in other parts of my body. I had a catecholamines test last month and it was negative. I think at this point, I’ll wait to have more imaging studies until my deductible is met this year. But I feel confident that there are no new tumors growing inside me. I like to maintain a positive attitude.

I hope you have found this story encouraging. This disease is not necessarily a death sentence, but you do have to watch it. It can definitely creep up on you.