Metastatic Paraganglioma with SDHD Mutation
I never thought I would hear my doctor utter the words, “You have malignant paraganglioma in your liver, and it’s not very good.” I was 31 when I first heard those words. He told me he had never heard of paraganglioma before, and he was clear about the gravity of my situation. The only option left for me was palliative care. I was shocked and all I could do was laugh. It was surreal. My husband and I didn’t know what to say to each other during the drive home.
First Tumour
It started when I was 23 and I found a lump on my neck in the bathroom. I went to see my family physician to have it checked. He promptly asked me if my mother’s name was C. I replied, “That’s my Grandma!” He told me she had a carotid body tumour called paraganglioma, and it was likely what I had. My grandmother and I share the same genetic mutation, SDHD. She had two carotid body tumours.
I had just turned 24 when they removed the carotid body tumour from the right side of my neck. Right after I awoke, the surgeon said, “It was much bigger than we thought, and it looked more like cancer. We will wait until the results come back.” I waited for three weeks for the results, and they came back benign! I thought I was free and clear, and I didn’t give it much thought, since I was told these tumours were always benign with my specific genetic mutation. I went on with my life, finished school, started a great career, and married my soul mate.
Second Surgery
The SDHD mutation is loosely associated with thyroid cancer. My grandmother developed thyroid cancer and I had a nodule in my thyroid discovered in 2002. In 2008, my endocrine surgeon removed the right lobe to ensure it wasn’t cancer like my grandmother. The pathology results came back as benign, and again I carried on with life.
Delayed Diagnosis
I came to a junction in my career, having to choose a profession as a project manager or an environmental specialist. At that time, I was feeling sick to my stomach. My stomach would hurt right after coming home from a business trip. Some nights, I would lie on the bathroom floor in a fetal position while holding onto my stomach. I went to see the doctor several times over a period of eight months, and finally he diagnosed me with indigestion. He wouldn't listen to me or look at the whole picture. Not that I thought it was anything as serious as cancer. I thought it was the food I ingested while on the business trip, some kind of food allergy, or maybe it was just time to change things up in my life.
I started an exercise program, transferred to another department, and got that dream environmental job I had always wanted. I celebrated with co-workers and bought everyone a round of drinks, but then I started to feel sick to my stomach — so sick that I had to get someone to drive me home. At home, the pain was unbearable. We went to the nearest hospital, and I was in agony, writhing in pain on the floor. The triage nurse told us it would be a 12-hour wait before I would be seen. I started to feel better so we left, thinking that I’d wait and see the doctor in the morning. The pain only subsided temporarily, and the next day we went to the neighbourhood walk-in clinic. They took me in right away, saying I most likely had kidney stones. They then wrote me a physician’s referral to another hospital in Calgary. The hospital did an ultrasound and concluded I had gallstones. And yes, I did have gallstones and I needed surgery. I went home with strict instructions not to eat any fat until after the surgery. My family physician would follow up and schedule the procedure for me.
The pain was unbearable, so after the third visit to the hospital, they were going to take the gall bladder out. During the pre-op CT scan, it was discovered that my liver was 3-4 times the normal size and filled with an innumerable amount of lesions (or tumours). Finally, after two months of tests, they diagnosed me with metastatic malignant paraganglioma to the liver. The initial tumour from 2002 had actually been cancer, and it had spread to my liver! My doctors were shocked to have an SDHD mutation patient who had metastatic malignant paraganglioma.
Treatment
I was told by several doctors that I was dying, and there wasn't anything they could do for me other than chemo. Treatment would only slow progression of disease, not cure it. I wasn’t a candidate for MIBG and my tumours were “octreo-positive.” Octreotide based radiotherapies weren’t available in Canada so I started an experimental chemotherapy called Sutent. Sutent was in clinical trials at the Princess Margaret Hospital and shown partial response in two pheochromocytoma patients. My oncology team obtained approval from the cancer board to cover the costs of my treatment and started in April 2009. I took 50mg per day for four weeks on with two weeks off. My hair turned white. I couldn’t eat and felt weak and tired. My oncologist dropped my dosage down to 37.5mg and body adjusted well to the treatments. The tumours shrunk!
These non-functioning parasympathetic paragangliomas started to secrete serotonin after the liver biopsy, and my resting heart rate was 120 beats per minute. I received monthly Sandostatin Lar 20mg injections to suppress the excess serotonin production. It took two weeks for the Sandostatin to work and my resting heart rate went down to 80 beats per minute.
Getting Listed, Overwhelming Health Issues
I wasn’t giving up without a fight, so I inquired about a liver transplant. At first, they said no, since getting an organ transplant for someone who has metastatic cancer is an absolute contradiction. The life-long anti-rejection medication given to organ transplant patients suppress the immune system, causes the cancer to become aggressive, and results in rapid decline. I convinced one doctor, my endocrine surgeon, to at least inquire about it and fortunately, the transplant team in Edmonton, Alberta, was willing to take a look at me.
I barely made the criteria, as they were questioning whether the cancer had spread beyond the liver. My lymph nodes near my liver were swollen and there was one suspicious spot on my vertebra T7. I underwent many tests and scans (e.g. PET, Octreoscan, CTs, ultrasounds, spinal biopsy of T7, endoscopic biopsy, bone scan, etc.). Plus, the release of serotonin was affecting my heart valves which could have made me ineligible for a transplant so they did a heart catheterization.
During this yo-yo period of whether to list me or not, my weight plummeted to 77 pounds. I had a tube sticking out of my abdomen to drain the gall bladder and it was colonized by bacteria. In September 2009, it led to a serious blood infection called sepsis and my body went into shock. I spent about 2 weeks of it in the ICU and four days in isolation due to the possibility of having H1N1. I was treated with a four week course of IV antibiotics. During my 5-week stay in the hospital, I experienced GI bleeds, a stroke (subarachnoid haemorrhage) with subsequent seizures and, of course, more testing to see if I was a candidate for a liver transplant. The transplant team was still unsure if the paraganglioma had spread to my lymph nodes and decided against a laparoscopic biopsy.
November 2009, I was activated on the liver transplant list with one qualifier; if a suitable liver did become available, they would open me up, check to see if there were any signs of cancer outside of the liver. If there were any signs of cancer, they would perform an emergency biopsy in the operating room to verify. Another potential recipient would be called in to wait so the donated liver wouldn’t go to waste. I wouldn’t know if I received the transplant until I woke up from surgery!
The Call
At approximately 5:30pm on February 26, 2010, I received the lifesaving phone call that an organ was available. I was ecstatic and emotional. Will I finally get my second chance? We grabbed our pre-packed bags and drove to Edmonton, AB. The lungs were being donated first so my transplant didn’t begin until 4am the next morning. My husband and my family, and the back-up recipient and her family, waited in the same room for five hours before someone told her that my transplant went ahead. My husband noticed them leaving and inquired. Yes! It was really happening for me! I was probably going to live.
It was still a hard battle to recover from the transplant, but at least I knew I had a fighting chance for a normal life. About a week afterward, I started to feel better, almost healthy again.
Fourth Surgery
Six months after the transplant, I had a second (bilateral) carotid body tumour removed from the left side of my neck. The surgery was successful and spent one night in the hospital. It was small tumour, and the pathology results indicated it was well encapsulated and benign. This time, I’m confident this one was benign. I returned to work a week after that surgery.
Living Well
I have to say, not a day goes by that I'm not thankful for life. I’m grateful that someone out there was generous to make that decision to donate organs. I found a new zest in life and cherish every moment I have. I’m 18 months post-transplant and there’s no sign of disease. I’m working full-time and enjoy the activities like travelling, mountain biking, hiking, and shopping.
Tisa Perra
September 5, 2011