University of California San Francisco
Helen Diller Family Comprehensive Cancer Center

How a Powerful Genetic Test Matched An Infant's Cancer to a Life-Saving Therapy

By Kate Vidinsky | UCSF.edu | September 11, 2019

How a Powerful Genetic Test Matched An Infant's Cancer to a Life-Saving Therapy

Mignon Loh, MD, is a pediatric cancer specialist whose research has focused on understanding the genomic landscape of JMML. Photo by Steve Babuljak

Lara Stuart and her husband, David Lodge, first noticed the peculiar rash on their son Quincy’s face when he was just shy of 4 months old.

Trips to the pediatrician and a dermatologist didn’t offer up any concrete answers – and within weeks, Quincy’s abdomen started to swell.

Stuart and Lodge drove Quincy to the nearby UCSF Benioff Children’s Hospital Oakland emergency department, and the infant was admitted to the hospital, where doctors ordered a battery of tests.

Later that day, the family received the news that would change their lives forever: Quincy had a rare and aggressive childhood blood cancer called juvenile myelomonocytic leukemia, or JMML.

Through the next few months, Quincy’s treatment would take him and his family across the Bay to San Francisco and to the frontier of using precision medicine to unearth a drug that would save the infant’s life.

Too Ill for Standard Treatment

JMML tends to strike children younger than four years old, and it accounts for 1 percent to 2 percent of all childhood leukemia cases, or about one in a million children each year. The disease develops in the bone marrow and leads to an elevated white blood cell count that interferes with the marrow’s ability to produce healthy red blood cells and platelets.

Currently, the only potential cure for JMML is a stem cell transplant – and only about half of patients who receive a transplant achieve long-term remission – but Quincy was too ill to withstand one.

“Having a sick child is beyond surreal. It is the scariest journey you could ever go through in your life,” Stuart reflected. “After Quincy got the diagnosis, it was like we were suddenly in a twilight zone, taken out of our normal lives, dropped in a foreign place and stuck in a room night and day. It changes you.”

Soon after receiving his diagnosis, Quincy was transferred to UCSF Benioff Children’s Hospital San Francisco, where clinician-researchers, including Mignon Loh, MD, and Elliot Stieglitz, MD, have been at the forefront of JMML research and treatment for years.

 

Read more at UCSF.edu