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Treating a Rare Genetic Syndrome to Prevent Cancer

Headshot of Maria, a MonoMAC Syndrome Survivor

Maria’s decision to participate in an NCI clinical trial brought her great relief, and she credits it with preventing her from developing leukemia.

Credit: Photo courtesy of Maria.

Maria watched with dismay in the spring of 2020 as COVID-19 sent the nation and the world reeling. “Physical distancing” and “rigorous hygiene practices” were trending phrases that Maria was already well acquainted with. 

A Medical Mystery

A decade and a half prior, a medical exam that was required for Maria’s application to join the Peace Corps raised a flag. It revealed a very low white blood cell count. She was stunned, as she had always felt healthy and had played soccer, run track, and competed in triathlons in high school and college.

For the next 10 years, Maria ran the gauntlet of medical tests and saw numerous physicians at five large hospitals without receiving a clear answer to explain the low white blood cell count. During this time, she was experiencing gynecological pain, and her doctors eventually found precancerous lesions and recommended surgery. And she still had not been given an explanation for her low white blood cell count.

Eventually one of her doctors connected Maria with Steve Holland, M.D., at the National Institute of Allergy and Infectious Diseases (NIAID). In late December 2016, she talked with his team about her precancerous lesions and other medical history, and they thought they could help her. She arrived at the NIH Clinical Center 6 weeks later for a thorough examination to determine if she had a rare condition that would make her eligible for a clinical trial.

Leukemia Prevented with a Bone Marrow Transplant

Test results identified a deficiency in a gene called GATA2. Research had shown that sporadic gene mutations on one copy of the GATA2 gene can lead to a syndrome called MonoMAC, which is characterized by a compromised immune system leading to debilitating infections and, often, progression to leukemia. Dennis Hickstein, M.D., a senior investigator in NCI’s Immune Deficiency Cellular Therapy Program, was conducting a trial to address MonoMAC syndrome, and Maria agreed to participate in it.

In the fall of 2017, Maria underwent chemotherapy followed by a bone marrow transplant. “The transplant saved Maria’s life,” Dr. Hickstein said. “There’s a 90% survival rate in this disease when it’s treated.” He noted that about half the people with MonoMAC progress to leukemia. The key to helping Maria was identifying the GATA2 mutation and making the MonoMAC syndrome diagnosis, something that had eluded her doctors for more than a decade.

Maria is extremely grateful for her opportunity to participate in Dr. Hickstein’s clinical trial and attributes the transplant to preventing her from developing leukemia. “I saw the impact of science firsthand. I watched the lesions melt away over a 6-week period.”

Until her new immune system kicked in following the transplant, however, Maria was very susceptible to infections. She spent 3 months in isolation in and near the NIH Clinical Center to ensure that she did not come into contact with infectious agents—viruses, bacteria, and fungi—and, once released from isolation, she continued taking antifungal medicines as a precaution. Also, anything she touched was sanitized: purse, wallet, phone, keys, doorknobs, steering wheel, and other surfaces.

In March 2020, to help fellow Americans struggling with isolation and fear of COVID-19, she drew from her experiences and shared her successful practices in remaining virus-free in an online article. “I had no immune system for months after my bone marrow transplant,” she wrote. “Here’s how I avoided viral illness, and how you can, too. It’s easier than you think.”

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