Patient With Rare Diagnosis Benefits From a Transplant

GATA2 Deficiency: A Recent Discovery

In 2009, Michael McKinney, then 23, was attending school at Southern Illinois University Edwardsville. He was pursuing a bachelor’s degree in computer management and information systems.

Michael, who was born deaf, went in for a visit with his doctor because he was experiencing unusual fatigue. The visit included a blood test, as they suspected Michael might have the Epstein-Barr virus, which causes mononucleosis. The results revealed Michael had a low blood count. Unsure of the cause, his doctor recommended he change his diet to include more iron to increase his blood production.

When Michael’s blood counts were not improving and his doctor was unable to determine the cause, he was referred to a specialist. After many tests and additional referrals to other doctors, they still could not diagnose Michael. He was put on several medications, but none improved his condition. One even caused a grand mal seizure. Eventually, a doctor requested a bone marrow biopsy. The results came back abnormal. The doctor was unsure how to interpret Michael’s results, so he was referred to Siteman Cancer Center.

Initially Michael was diagnosed with a disease called dyskeratosis congenita, a rare genetic disease that causes bone marrow failure. After this diagnosis, Michael took a hiatus from doctors’ visits — he was tired of all the appointments and tests. After a few years, Michael reached back out to his doctor at Siteman, as the typical symptoms of dyskeratosis congenita did not align with his symptoms. She referred him to John DiPersio, MD, PhD, Washington University’s Chief of Oncology at Siteman Cancer Center.

After further clinical findings and genetic testing, as well as an assessment by the National Institute of Health, Michael was finally diagnosed with GATA2 deficiency, a rare genetic disease that was only just discovered in 2011. GATA2 is a protein that controls when certain genes are expressed. A deficiency of it can cause low blood counts and bone marrow failure, which can eventually develop into leukemia. It can also cause hearing loss.

Trust in His Care Team

Though Michael was experiencing several symptoms, such as fatigue, his condition had not progressed enough to receive the standard treatment — a bone marrow transplant. But Michael was steadily feeling worse and his blood counts were still low. He was also at a very high risk for leukemia.

Fed up with being tired and sick all of the time, Michael asked Dr. DiPersio about having the bone marrow transplant despite his stable condition. After another bone marrow biopsy, Dr. DiPersio agreed a bone marrow transplant was the right course.

Michael with his daughter, Zoe, during his treatment. See Michael’s photo gallery.

In preparation for the transplant, Michael received chemotherapy. In March 2017, Dr. DiPersio performed the bone marrow transplant using stem cells from Michael’s brother.

Following his transplant, Michael spent one month as an inpatient at Siteman Cancer Center. Typical of most transplants, he experienced some side effects, including symptoms of graft-versus-host disease. Michael was lethargic, sleeping most of his stay in the hospital.

Despite these side effects, Michael was confident in his treatment and comforted by the expertise of his care team. “The process was much easier because of the doctors, nurses and staff. They were more capable and understanding than any others I had experienced,” says Michael. “They addressed any and all of my concerns. I wanted to know as much possible, and they gave me very in depth, technical answers. They helped me to understand my unique diagnosis.”

While in the hospital, Michael also found comfort and support from his family. His wife, Idalia, was by his side through it all. After a long inpatient stay, Michael was able to return home to Wood River, Ill.

Hope for the Future

In just a few short months after his transplant, Michael has been steadily improving. While he still has some weakness in his immune system, his blood counts are almost back within the ideal range. “I know it will take a while to recover, but I’m starting to feel normal again,” says Michael.

Michael with his family at Disney on Ice.

Michael enjoys spending time with his wife and their young daughter, Zoe. He also enjoys traveling and scuba diving. Now that Michael’s health and energy have been restored, he hopes he can travel again soon, particularly to visit Honduras where Idalia is from.

Unfortunately, Zoe inherited the same genetic disease Michael has, GATA2 deficiency. So far, Zoe has experienced some hearing loss, but her disease doesn’t seem to be as severe as Michael’s. Because of the continuous advancements in medicine and the growing understanding of the disease, Michael is very hopeful his daughter will encounter fewer difficulties than he has.

“Medicine today is advancing so quickly,” says Michael. “And Siteman is part of that. There is no better place you could go or better doctors you could see.”