Frontline Cancer: A few people can have an exceptional impact on rare diseases

Few words strike as much fear in our hearts as “cancer,” and no one wants to hear it combined with “rare.”

I’ve written before about UC San Diego Moores Cancer Center’s Dr. Jason Sicklick and his ongoing relationship with Debra Melikian and her family.

He is a highly skilled and sought-after surgeon, a brilliant translational scientist and compassionate clinician specializing in patient care and research of gastrointestinal stromal tumors, or GIST, a form of sarcoma.

She is a mother on a mission helping to raise awareness and support for GIST cancer research. You’ll remember that her only child, Merak, was diagnosed with a very rare and aggressive form of GIST, known as SDH-deficient GIST, in 2014. Their chance meeting at The Life Raft Group’s GIST Day of Learning in November 2015 changed the course of her son’s care and all of their lives forever.

More than 25 million Americans are impacted by rare diseases, with rare cancers affecting fewer than 40,000 Americans each year. This may seem small, but as a group, rare tumors make up more than a quarter of all cancer diagnoses and a quarter of all cancer deaths each year in the United States.

Merak was one of about 4,000 to 6,000 cases of GIST diagnosed in the U.S. each year and one of only about 150 to 200 patients diagnosed with the aggressive and hereditary subset known as SDH-deficient GIST. Currently there is no cure for this subtype.

After a valiant five-year-plus battle, Debra’s son passed away in 2020. His fight inspires Dr. Sicklick’s dedication to GIST research and his quest for a therapy for SDH-deficient GIST for patients like Merak.

The National Organization for Rare Disorders has been in existence for nearly four decades since mobilizing support to pass the Orphan Drug Act of 1983. When NORD put out its annual call for nominations for heroes in rare disease, Debra submitted a most heartfelt and deeply moving nomination of Dr. Sicklick. He was selected as one of four Heroes of Rare Disease, an honor bestowed on health care professionals and researchers.

The award was announced at this year’s Rare Impact Awards program in Washington, D.C., as part of the Living Rare, Living Stronger NORD Patient and Family Forum, an annual conference that brings together patients and families, advocates, health care professionals and others for learning, sharing and connecting.

On June 28, Dr. Sicklick virtually accepted the NORD Rare Impact Award. In his acceptance, he said: “It is truly an honor to be receiving this award from NORD. It is my goal to beat GIST and prevent stories like Merak’s. Bringing our work from the laboratory to the clinic, we are aiming to make a difference for patients in San Diego and beyond.”

Others receiving awards included a leader in rare-disease medical genetics, a mouse modeler, the U.S. Food and Drug Administration’s director of the Center for Biologics Evaluation and Research, and legislators including a state representative from Massachusetts and a senator from Washington. Sicklick was the only cancer physician recognized with the 2021 Rare Impact Award.

July is Sarcoma Awareness Month, and July 13, GIST Awareness Day, is commemorated around the world. On GIST Awareness Day, Dr. Sicklick was in Moores Cancer Center’s rare-tumor clinic dedicating his day to his patients and their families. Moores’ clinic is one of only a handful of clinics dedicated to the treatment of rare cancers. Dr. Sicklick splits his time between the operating room and his GIST research lab, developing new models, screening chemotherapies and moving them to patients in a clinical trial that is now open at four centers across the U.S., aiming to treat this rare hereditary variant of GIST.

Also on that day, his research team, along with other experts on SDH-deficient GIST from around the country, presented an update on their work in The Life Raft Group’s SDH-deficient GIST Consortium and live Q&A.

Every day, Debra Melikian remembers her son, Merak, and honors him by continuing her mission to help raise awareness and financial support for GIST cancer research.

Thank you, Debby, for letting us tell your story. We are forever indebted to you and inspired by your commitment.

Dr. Scott Lippman is director of the Moores Cancer Center at UC San Diego Health. His column, “Frontline Cancer,” appears periodically in the La Jolla Light. He can be reached by email at slippman@health.ucsd.edu. ◆