Case Studies

Helping Henry Find His Quality of Life

When we met Henry, he had been experiencing pain in his left shoulder, neck, and lower back. He had recently undergone a CT scan which showed concerning areas in his lungs, thyroid, lymph nodes, and bones that were highly suspicious for cancer. Henry had been told that he might have lung cancer, thyroid cancer, or lymphoma and a biopsy was needed to determine exactly what kind of cancer he actually had.

At 70, Henry knew he needed help understanding this new health concern and he wanted to be sure he received the correct diagnosis. Looking for solid answers and advice, he engaged Private Health Management and his Personal Care Team immediately took action to ensure he benefited from the latest diagnostics and treatments.

Henry soon underwent a biopsy, and the results came back a few days later: non-small cell lung cancer. While this diagnosis was possible based on the information available, in reviewing his initial imaging, Private Health noted that the tumor in his thyroid was larger than the lesions on his lungs, and that while lung cancer is four times more common than thyroid cancer, it’s rare that the primary lung tumor would spread to the thyroid. Henry’s Personal Care Team knew they needed a more detailed assessment of his tissue than the standard of care pathology analysis to make sure his treatment was as personalized as possible, so they sent the tissue off for comprehensive genomic profiling.  

While awaiting the results, Henry began standard of care treatment – a combination of two different chemotherapy drugs – but after experiencing severe adverse side effects, he asked that the treatment be stopped. Henry was at a loss at what to do. He knew his disease needed treatment, but the treatment seemed to be doing more harm than good. His oncologist suggested he consider hospice, but the results of the genomic profiling came back and immediately raised suspicions for his Personal Care Team.

Henry had a mutation in his cancer cells in a gene called a rearranged during transfection (RET). This particular mutation, C630R, was known in medical literature to be associated with medullary thyroid cancer (MTC), a rare and aggressive subtype of thyroid cancer. Knowing that Henry had disease in his thyroid as well as his lungs, they wondered whether Henry might have been misdiagnosed. The team began exploring the possibility that Henry’s primary cancer wasn’t lung cancer at all – that maybe Henry had medullary thyroid cancer that had spread to his lungs.

The team quickly identified a world-leading expert in medullary thyroid cancer and arranged for him to review Henry’s case remotely. He agreed that Henry most likely had medullary thyroid cancer and recommended several key additional tests to confirm the diagnosis. Private Health expeditiously arranged the follow-up testing and, shortly thereafter, Henry’s diagnosis was officially changed to medullary thyroid cancer.

Even more impactful than the change in Henry’s diagnosis was the implication the genomic profiling results had for his treatment. The RET mutation meant that Henry’s cancer cells would very likely be sensitive to a new therapy that had been designed specifically to target cells with mutations in the RET gene. This targeted therapy, called vandetanib, is an oral medication that is not only much better tolerated than chemotherapy, but also more effective at killing cancer cells with RET mutations. Henry started on this treatment, and over the following six months, he regained a sense of normalcy. His symptoms improved, his energy and appetite returned, and he began doing things he enjoyed again, like gardening, playing golf, and spending time with his family. For six months, Henry enjoyed a quality of life that he thought was gone forever.

Henry’s journey underscores the ways that Private Health can go further for cancer patients than what standard of care often allows. The technology that helps us understand cancer cells is advancing every day, resulting in more accurate diagnoses and better-informed treatment options, such as targeted therapies. Private Health stays on top of the newest research and findings to ensure that cancer patients benefit from the latest advances.

Henry’s cancer was unique, and without the expert advice of Private Health, it’s possible that he could have never received the correct diagnosis and treatment.


* Name changed to protect privacy

* Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition.

Authors

Eva

Eva Gordon

Senior Vice President, Research | Chief Scientist

Dr. Gordon brings more than 20 years’ experience leading clinical research efforts in biotechnology, pharmaceutical, and non-profit research organizations. At PHM, she sets the vision and direction for how to follow the science to ensure our clients receive the best of what is possible in medicine.