The story of Renee
Sean Ferrer Hepburn, Audrey Hepburn’s son, is today’s Rare Disease Day Ambassador. When his mother Audrey was diagnosed with adenocarcinoma treatment options were limited, but thankfully this has since changed (though we are not there yet). Standard of care for mucinous adenocarcinoma, which usually originates from the appendix , is now cytoreductive surgery with hot chemo treatment. This treatment yields a pretty good long-term outcome, but unfortunately recurrence rates are fairly moderate, with additional surgery sometimes, but not always, possible. Diagnosis rates are ~2 cases per million people per year, but likely the number of affected people is much higher. Diagnoses are missed due to lack of awareness and because symptoms are often quite vague.
Jason, my husband, was diagnosed with mucinous adenocarcinoma with clinical condition pseudomyxoma peritonei (PMP; the adenocarcinoma cells produce abundant mucin) at age 41. His symptoms had been ongoing for years: gastric reflux, feeling uncomfortably full for long periods of time after he ate, and general discomfort. When he was in his late 30’s he had gone to a gastroenterologist doctor for diagnosis, but they were unable to provide an explanation beyond “gastric reflux, hiatal hernia”. Several years passed, with increased feelings of general crumminess; meanwhile, tumors continued to grow and envelop his organs. Finally a different doctor suggested CT scan, which immediately revealed that cancer was widespread throughout his entire abdomen.
Jason had a 12 hour surgery plus 1 1/2 hour hot chemo treatment (Heated Intra-peritoneal chemotherapy, HIPEC), June 2012. During surgery all visible tumors and deeply affected tissue, which included most of his colon, part of his small intestine, part of his stomach, spleen, the lining of his abdomen (peritoneum), and other bits, were removed. After that he went through 6 months of IV chemo. He is now doing quite well (dare I say amazingly well), with good energy and nearly normal life. The time we have together now is an incredible blessing. We don’t know if his cancer has returned: some doctors think yes, others think no. So who knows; we are learning to sit with this ambiguity. Our relationship is now stronger having gone through this, but it took time and patience to get to this point.
i am forever grateful to the medical professionals who paved the way for developing PMP treatment, but we still have a long ways to go.