In 2014, Joel, then 37 years old, learned that his father, Gary, had been diagnosed with an MLH1 gene mutation – a condition also known as Lynch syndrome.
The diagnosis was revealed by genetic testing following discovery of cancer in Gary's cecum (a small pouch connecting the small intestine to the colon), and in light of a history of colon cancer in Gary's family.
Joel's sister, Alana, sought out testing soon after and learned that she, too, is Lynch syndrome positive.
"The news was a surprise," Joel remembers. "I felt grateful that it had been shared with me, and for the steps my father in particular had taken to pinpoint family patterns and pursue testing, paving the way for my sister and me to do the same. Right away, I wanted to know more about what such a diagnosis meant for my family, and what I might be able to do with it."
What is Lynch syndrome?
Lynch syndrome is an inherited condition passed down from a parent that increases the risk of certain cancers, most notably gastrointestinal and endometrial cancers. People with Lynch syndrome are also more likely to develop cancer before the age of 50 and to develop more than one cancer in a lifetime. Lynch syndrome affects approximately 1 in every 270 people.
Because one parent had tested positive for Lynch syndrome, Joel had a fifty percent chance of testing positive, too.
"For me, genetic testing was the logical next step," he says.
Joel reached out to his primary health provider at Penn Medicine and was connected with a Genetic Counselor at Penn Medicine's Gastrointestinal Cancer Genetics Program. In June of 2015, Danielle collected a sample of Joel's saliva and submitted it for testing.
"I had a vacation to Australia planned in the weeks following and knew there was a good chance I'd be there when results arrived," Joel says. "I am forever grateful for the way Danielle went above and beyond to accommodate me."
When Joel said he'd rather receive results on vacation than wait until he'd returned home, Danielle stayed late at Penn Medicine one evening to call him in Australia at an hour when he'd be awake.
She broke the news: Like his father and sister, Joel, too, has a gene mutation that causes Lynch syndrome.
Joel's reaction surprised even him a bit.
"When Danielle gave me the results, I said 'thank you' and went about my day feeling more empowered by the information than scared, per se," Joel remembers. "After all, I'd experienced no cancer symptoms, exercised regularly and took care of myself, and knew robust risk management options exist for individuals with Lynch. I had no way of knowing I'd soon be in for a roller coaster ride."
Once home in Philadelphia, Joel pursued risk management with Penn Medicine physicians experienced in Lynch syndrome – a team led today by Bryson Katona, MD, PhD. It included preventative colonoscopies, which are recommended for individuals with Lynch.
When he regained consciousness after his first colonoscopy, though, Joel received unexpected news: Doctors had discovered and removed a sizable mass from his colon wall. They'd also removed a few lymph nodes from surrounding areas.
Accelerating the Timeline
Biopsies revealed that the mass removed from Joel's colon was cancerous, as was one of his lymph nodes. This surprised everyone, considering Joel had been entirely asymptomatic.
Joel met with a colon and rectal surgeon days later to discuss next steps. He underwent CT scans and began preparing for what had quickly become urgent: The partial resection of his colon by Najjia Mahmoud, MD, chief of the division of colon and rectal cancer. That procedure took place successfully in September of 2015.
Joel admits that his memories of this time period are a bit of a blur. He nonetheless remembers how Penn Medicine acknowledged his concerns and provided answers and support. Penn Medicine's Chief of Gastroenterology, for example, offered Joel his cell phone number and was available to answer questions off-hours.
Less than three weeks after the colon resection, Joel started chemotherapy treatment, in October 2015.
"I went from a seemingly healthy 37-year old to being out of work for weeks in less than a year. I'm fortunate that my employer, Swarthmore College, was phenomenally supportive of the sudden disruption."
Joel's complex medical reality also disrupted plans to start a family. As he prepared for chemotherapy, he and his wife, Lela, began visits with Penn Fertility to consider reproductive technologies and options available to families with known genetic conditions. Joel was able to preserve sperm prior to starting chemotherapy so that they could pursue IVF in the future. Ultimately, Joel and Lela attempted IVF in combination with a technology called Preimplantation Genetic Testing (PGT) which can screen embryos for specific genetic conditions like Lynch Syndrome prior to implantation. This resulted in one viable embryo without Lynch Syndrome. While none of their attempts at IVF resulted in a pregnancy, he and Lela ultimately welcomed a daughter in 2019 without IVF.
Life Since 2015
Joel completed twelve rounds of chemotherapy in April 2016.
Now 45-years old, he remains a high-cancer risk management patient at Penn Medicine. He sees Dr. Katona, Mark H. O'Hara, MD, and a number of other specialists specific to health matters that have presented in his family tree.
"I've undergone regular CT scans and yearly colonoscopies and upper endoscopies," he says. "After a few clean results, my care team offered me the option of dialing down screenings or staying the course, depending on my preference. I chose what's probably a more frequent regimen of testing than what some others choose. I appreciate this brand of individualized care. I'm lucky to have an oncology team that's also sensitive to the implications of Lynch, and who can make recommendations accordingly."
Joel and Lela will educate their daughter on Lynch syndrome as she grows so that when she's older, she can decide whether to pursue genetic testing.
"Clearly no one would choose a Lynch syndrome diagnosis, but I find such solace and support in the information Penn Medicine offers, and in the team that's so ready to help in a coordinated fashion. It's been deeply appreciated by my loved ones and me."
Those loved ones include Joel's father, Gary, who is cancer-free today following surgical removal of the tumor in his cecum, removal of his ascending colon, and subsequent targeted immunotherapy for pancreatic cancer.
"My father visited Philadelphia a few years ago," Joel recalls. "His pancreatic cancer diagnosis was fairly recent at the time. Because of this, and because of my father's scientific curiosity and propensity for research, I asked Dr. O'Hara if he'd be willing to meet with us, informally. Dr. O'Hara kindly said 'yes.'"
When they sat down to chat, Dr. O'Hara began engaging Joel's dad using patient-friendly language.
"However, my dad reads all the scientific journals and quickly showed his hand," Joel says with a laugh. "It prompted Dr. O'Hara to shift to more academic vernacular. Seeing Dr. O'Hara's sensitivity and awareness and his ability to switch language to meet the preferences of the person in the room was a powerful thing to behold, and really representative of my Penn Medicine experience overall."
Learn more about Penn's Lynch Syndrome Management Program: To make an appointment, call the Division of Gastroenterology scheduling office at 215-349-8222 and ask to schedule an appointment with Dr. Katona.