Three Generations, One Gene Mutation, No Cancer
Lucy Godley, MD, PhD, at the University of Chicago Medicine, slid her fingers over the blotchy, red rash covering her patient's legs. Thirty-eight-year-old Shannon Wilson's skin had an "electrifying itch" over the past three days. She'd had chemotherapy and a stem cell transplant to treat a rare cancer six weeks before this appointment. One of her antibiotics was possibly causing the reaction.
Seated on the examination table with a baseball cap covering the wisps of hair chemotherapy left behind, Wilson sighed with irritation. She gestured for her mother, Mica Witt, 57, to pass her the grocery bag full of rattling pill bottles that she has to carry around every day.
Witt knows exactly what her daughter is going through. She even struggles with thoughts that this is her fault. Eight years ago, Witt herself was the one complaining to Godley, associate professor of medicine, about the aftershocks of cancer treatment. Their cancer came from a RUNX1 genetic mutation, located on chromosome 21, that leads to leukemia. They are one of 32 known families in the world found to have the mutation.
Witt was diagnosed with acute myeloid leukemia (AML) in June 2002, after her primary physician near her home in Mahomet, Ill., found that her platelet levels had dropped to 40,000 per microliter. Normal range starts at 150,000. The physician said she only had a 10 percent chance to live.
"I thought 'God, you handle this one," Witt recalled. "From that moment on, I knew I wasn't going to die."
Her physician recommended that Witt come to the University of Chicago Medicine campus, where Godley was confident she could be treated. "It wasn't like, 'You have AML; you're older; let's turn out the lights,'" Witt said. "They said, 'We can do this, or that or this.'"
Witt had an autologous stem cell transplant in February 2003. With this type of transplant, Witt was first treated with chemotherapy. Then her own bone marrow, also treated with chemotherapy, was infused back into her body. Still, her platelet levels would not rise above 100,000. Just as her hair was starting to grow back, her cancer relapsed as a myelodysplastic syndrome (MDS).
Not suspecting a genetic link, Godley performed an allogenic stem cell transplant in December 2003, using bone marrow donated from Witt's older brother. Six months later she was celebrating at the NASCAR race in Michigan and back to work part time.
In March 2009, the family was dealing with cancer again. Witt's daughter, Shannon Wilson, had been diagnosed with the same rare cancer. Godley told them, "You're either living on a toxic waste dump, or you have a genetic mutation."
Godley tested the whole family for the gene. By October 2009, the results were in. Witt, Wilson and her two teenage children packed into the office of Kenan Onel, MD, PhD, director of the medical center's Pediatric Familial Cancer Clinic. Only one other person had the genetic mutation -- it was Wilson's 16-year-old daughter, Kelsey.
Fortunately, Wilson's only sibling, Ashley, was able to donate bone marrow for Wilson's stem cell transplant in April 2010. The treatment took just as much of an emotional toll as the diagnosis. Wilson credits Godley and staff nurse Lisandra Ayala, RN, OCN, for being "the best" at coaxing her through it.
"You have to put yourself in their position," said Ayala, who recently won the Morgan Award for Excellence in Oncology Nursing during Nursing Week 2010. "I just let her know, 'This is just the hard part; you'll get through it."
Wilson and her mother have Godley's personal cell phone number just in case anything happens between follow-up appointments. Even while on vacation, Wilson said Godley answers every call to coach Wilson through side effects like the red, itching body rash.
Despite such side effects, Godley had good news -- the blood work for Witt and Wilson showed healthy platelet levels and no sign of cancer. "And Kelsey," Godley said smiling, "you're totally fine, too."