Scott's cancer (August 21, 2022)

This week is Pheo Para Awareness week. Scott's cancer was metastatic paraganglioma (or "para"), an extremely rare cancer that in his case was caused by an even rarer genetic mutation. There is a closely related condition known as pheochromocytoma, or "pheo". Pheo/paras are a type of neuroendocrine tumor that can cause the excessive release of catecholamines, which include adrenaline, that prepare the body for "fight or flight" reactions. Symptoms can include high blood pressure, anxiety, heart palpitations, sweating, and headaches.

Scott suffered many of these symptoms for years, and it is likely that his tumors developed over many years since they are typically slow growing. It is highly unlikely that Scott's cancer could have been caught early since he never had another reason to get a scan, his routine blood work always came back normal even at the time of diagnosis, and his symptoms were general and associated with other health conditions that he had. It was not until he had his PET CT scan that we learned that his cancer had spread to his liver, lymph nodes, and throughout his bones. The widespread and advanced nature of his cancer shocked even his doctors, as Scott's only "unusual" symptom at the time was a sore shoulder due to bone lesions caused by the cancer. Most of the time, shoulder pain is caused by something much simpler and we thought maybe he had a rotator cuff injury. None of us foresaw that the cause would be an extremely rare cancer that had gone Stage 4 and spread throughout his body.

Pheo/paras are one of the diseases called "the Great Mimic" because their non-specific symptoms are often attributed to other diseases. Even after Scott underwent a biopsy, he was initially misdiagnosed with pancreatic neuroendocrine tumor (PNET) which is a related but different condition. Surgery is the best option for treatment for pheo/paras, when possible. Due to the widespread nature of Scott's cancer when he was diagnosed, this was not a realistic option. 

There is limited data on this disease and almost no data on how his genetic mutation can inform treatment. We consulted with pheo/para experts around the country in addition to our medical team, looked at clinical trials, reached out to researchers, and surveyed the medical literature. All eligible treatments had a mediocre rate of success and a high incidence of serious side effects. Still, we hoped that they would buy him more time, enough to try out new treatments as they became available. Because of how rare this condition is and how general the symptoms can be, more research is needed for effective treatments, especially for patients with Stage 4 (metastatic) cancer.

https://pheopara.org/education/paraganglioma
https://www.youtube.com/watch?v=6ZPS5hdc-YI