Beyond One in a Million: James’ Story

James is being treated for an extremely rare disease, which can affect vital organs.

By Erica Gadbois

At just a year old, James Cheatham has been through more medical challenges than many people experience in a lifetime — and it all started within minutes of his birth.

His mom, Alyson, was under observation for high blood pressure during the later stages of her pregnancy, and when her levels spiked dangerously at 36.5 weeks, Rancho Springs Medical Center physicians delivered James via emergency cesarean section. Alyson was thrilled to meet her little boy, but she says she and the doctors immediately noticed that he had “what looked like popped blisters” all over his tiny body. James was taken to Rady Children’s Neonatal Intensive Care Unit (NICU) at Rancho Springs, where neonatologist Richard Song, M.D., diagnosed him with Hashimoto-Pritzker histiocytosis. “Hashimoto-Pritzker is extremely rare,” says Dr. Song. “It occurs [in] approximately two to five cases per million each year, so James was certainly beyond that ‘one in a million’ case.”

A form of Langerhans cell histiocytosis (LCH), the disease increases a particular type of immune-regulating cell called Langerhans cell histiocytes. In the case of Hashimoto-Pritzker, this increase leads to congenital, or appearing at birth, lumps or papules on the skin. Other forms of LCH can cause a type of tumor called granulomas, which can affect the bones, vital organs and some of the body’s natural processes, such as puberty and metabolizing food. “[With Hashimoto-Pritzker], the skin lesions typically go away within weeks to months and patients generally do fine,” Dr. Song explains. “However, complete evaluation and subsequent assessment of the other organ systems is essential because the histiocytosis can involve other organs in time.” As such, James remained in the NICU under Dr. Song’s care for three days and then went home to his family.

“We went home, and everything was going fine,” Alyson says, and recalls James’ rash clearing up. “But then he started to drop weight.” She took him to the pediatrician, who said that, because of the minor degree of weight loss, he was alright for the time being. However, his weight continued to decrease, and by his second week of life, James had lost an entire pound. “He’s my fourth child,” explains Alyson, whose other children are 8, 6 and 3, “and none of my kids have ever dropped weight.” Concerned, she took James back to Rady Children’s NICU, this time to the main San Diego facility. Her family often travels from their Lake Elsinore, Calif., home to this location to see Michael Gottschalk, M.D., Ph.D., who treats her 6-year-old for type 1 diabetes.

“They did a bunch of different scans. Bloodwork, ultrasounds, everything checked out,” Alyson says. James returned home, where his weight increased and his skin continued to improve. However, a few weeks later, he began abnormally vomiting and stooling, spurring his rapid return to Rancho Springs and Dr. Song. Physicians ordered a new blood panel, and this time, it showed alarmingly low levels of multiple factors, including hemoglobin. James would immediately need a blood transfusion, Dr. Song told Alyson — and because of his history and the results of his bloodwork, the hematology/oncology tea0m would need to conduct further assessments. “That is what kicked off a month-long stay in the NICU,” remembers Alyson.

Another Complication

Over the next few days, James received multiple biopsies, an endoscopy, an MRI and a bone marrow aspiration. On October 5, 2017 — a date drilled into Alyson’s mind — doctors told her the LCH had spread throughout James’ body, attacking his spleen, liver, stomach, intestines, rectum, colon and bone marrow. Barely 2 months old, James began treatment under the supervision of Hilda Ding, M.D., M.S., a Rady Children’s hematologist/oncologist, and Eric Won, M.D., a fellow in the Rady Children’s and UC San Diego School of Medicine hematology/oncology fellowship program. Upon his diagnosis, doctors also found that James had a BRAF gene mutation in his LCH cells. The BRAF gene is an oncogene, which means mutations increase its potential to make normal cells cancerous, and since it is an underlying gene in the body’s natural cellular growth and division process, something awry can cause cells to proliferate at an abnormally high and dangerous rate.

Biological processes related to the BRAF gene also contribute to a baby’s normal development before they are born, making mutations fairly common in those with LCH. “Mutations in the BRAF pathway are found in about 50 to 60 percent of patients with LCH that involve[s] multiple systems,” says Dr. Ding. Although innovations in cancer treatment are increasingly tailoring therapies toward patients’ unique genetic makeups, this is still an emerging approach. In many cases — including James’ — traditional therapies are still recommended for initial action against cancer. “Agents available to target [BRAF] mutations [are] relatively new,” Dr. Ding explains. “There is not data supporting [their] use as first-line therapy. In cases where [these have] been used, though response is often seen, it is not yet clear the duration of therapy that is needed, [and there is still] concern that disease may recur once therapy is stopped.”

In keeping with best practices, James was placed on the most recommended form of chemotherapy — then another, and another and another. Through each round, his LCH was not responding. But his care team refused to give up, and added to their numbers with Kenneth L. McClain, M.D., Ph.D., director of the Histiocytosis Program at Texas Children’s Cancer and Hematology Centers and an internationally recognized expert in LCH. “We often consult with him when we encounter difficult cases [like James’],” says Dr. Ding, “[and] we consulted him early … due to a combination of [James’] young age, [the] rarity of LCH [and] his subsequent suboptimal response to standard therapy.” In early summer 2018, Dr. Ding and Dr. Won, along with Dr. McClain, agreed upon a third-line regimen for James, which “has finally induce[d] good response,” per Dr. Ding.

By July 6, 2018, James’ gut and bone marrow were completely free of diseased cells. He has a few more procedures left, but his prognosis is good, and his family will know if he is in full remission in October. While he will have an additional year of maintenance chemotherapy ahead of him, Alyson and the rest of the Cheatham clan are looking forward to a normal life for their littlest member and toughest fighter. Alyson credits James’ physicians — the “absolutely amazing” Dr. Song and “wonderful” Dr. Ding and Dr. Won — for where her son is today. It is safe to say the feeling is mutual. “What it comes down to is that [Alyson] is an amazing mom,” praises Dr. Song. “[When he was born], I told her to trust her maternal instincts and continue to be a strong advocate for her son, which she was from the beginning.”

Published October 2018