Your Health Seth Stratton | 10 months ago

South Carolina Girl Is Longest Living Survivor of Rare Leukemia

Levine Children’s Hospital, Levine Cancer Institute make medical history; discovery gives doctors new insight into rare leukemia.

Doctors at Levine Children’s Hospital and Levine Cancer Institute say 12-year-old Madie DeBruhl is the first in the world to be born with a rare blood cancer called chronic neutrophilic leukemia, or CNL. The Lancaster, SC, native became the youngest patient ever diagnosed with the disease in August 2014. Months later, following a successful bone marrow transplant, Madie has no signs of cancer and she’s made her way into medical history as the longest-living survivor of CNL. There have been roughly 200 cases of CNL reported worldwide. Until now, the disease typically was found in patients 65 or older, who survived, on average, for two years after being diagnosed.

Collaboration Leads to a Cure

Belinda Avalos, MD, vice chair of the Department of Hematologic Oncology and Blood Disorders and director of Hematologic Oncology Translational Research at Levine Cancer Institute, calls Madie’s case a huge stepping stone. “For the first time, we’ve diagnosed a child with a very rare form of leukemia, and that diagnosis has led to a potential cure of her leukemia,” says Dr. Avalos. “This case will make doctors around the world aware that this form of leukemia may show up in children. And, if caught early, a bone marrow transplant may cure them. “Madie’s diagnosis, treatment and transplant stem from collaboration between Levine Cancer Institute and Levine Children’s Hospital. This is an important example of how clinicians and researchers are partnering at our institutions to advance medicine.”

Madie’s Unusual Journey

Madie’s mom, Monica, describes her pregnancy as healthy and normal. But, during her baby’s four-month check-up, Madie’s white blood cell count varied between 24,000 and 37,000, which is more than double the normal level. They were referred to Daniel McMahon, MD, a physician in pediatric hematology and oncology at Levine Children’s Hospital. Dr. McMahon tested Madie for leukemia, but the results came back negative. So, he ended up seeing Madie regularly for years before pinpointing a cause of her high white blood cell count.
The DeBruhl Family (Monica, left, Ryland Madie) recently visited her social worker at Levine Children's Hospital, Kristine Pelletier-Garcia, at a recent checkup. Rylan donated his bone marrow to his sister that helped her battle a rare form of leukemia. Monica says Rylan is her daughter's hero. The DeBruhl Family (Monica, left, Ryland and Madie) recently visited her social worker at Levine Children's Hospital, Kristine Pelletier-Garcia (right) at a recent checkup. Rylan donated his bone marrow to his sister that helped her battle a rare form of leukemia. Monica says Rylan is her daughter's hero.
Because technology had improved so much since Madie was a baby, Dr. McMahon performed another bone marrow examination and other lab test on her when she was 10. The tests showed she had a high white blood cell count and larger spleen, so he reached out to Dr. Avalos and Larry Druhan, PhD, a senior scientist who studies cancers of the blood with Dr. Avalos in Levine Cancer Institute’s Hematologic Oncology Translational Laboratory. In a matter of weeks, they identified a mutation in the “CSF3R” gene known to cause CNL, and gave doctors and Madie’s family an answer to a question they had for years.

Never Stop Asking Questions

“Even though all her tests were coming back normal, I knew something was off, so I kept searching for answers,” says Dr. McMahon. “It turned out we discovered a very rare case. And because she was the youngest person ever diagnosed with CNL, we had concerns it could evolve into a more aggressive form of leukemia.” The doctors involved in treating Madie published research about her case in the medical journal, Blood, one of the most widely read hematology journals in the world. “Madie is changing the face of CNL, and we’re changing the way we think of CNL,” says Druhan. “Our discovery changes the way we look at the natural history of this disease – and our published research is an extremely important contribution to treating CNL. Any time we can make an impact through our work, it’s very gratifying. It makes the eight times out of 10 that experiments don’t work worth it.” This story also serves as a great teaching tool, says Dr. McMahon. “It reminds doctors, pediatric hematologists and people in general to never stop asking questions, always listen to that voice in the back of your head, and trust your gut,” he says. “The best part? The diagnosis had a potential cure: a bone marrow transplant.”

Brave, Big Brother

Luckily, her older brother, Rylan, 14, was a perfect match. When asked why he did it, the brave young man simply said, “Because she’s my sister.” Rylan’s priceless gift to his younger sister will allow her to keep enjoying all the things she loves like reading, playing games, going online with her tablet, and listening to her favorite musician, Jamie Grace, a Christian artist. Madie’s doctors and nurses describe her as a smart, sweet little girl who loves elephants and misses going to school with other kids. Doctors will follow her closely for the next few years, but they expect Madie to live the rest of her life free of this rare leukemia.
Madie with her family and her team of doctors and nurses at Levine Children's Hospital after a recent checkup. Madie with her family and her team of doctors, nurses and staff at Levine Children's Hospital after a recent checkup.
“The teams at Levine Children’s Hospital and Levine Cancer Institute have been awesome, but Rylan is the hero,” says Madie’s mom. “The doctors and nurses looked after Madie’s every need, from popsicles to whatever. She struggled a little following the transplant, but she’s on the mend and celebrated her 12th birthday on January 17.”