Two Decade Search Ends with Answers at UAMS

By kelly

Brian Cortez and his mom, Maria Borja, are relieved finally to have a diagnosis for his lifelong medical condition.

“I was always told that he was a very special boy and that his case was very complicated,” Borja, of DeQueen, said. But as he aged, his symptoms continued, and all treatments proved unsuccessful.

In addition to these symptoms, Cortez experienced fatigue and weight loss; physical and developmental delays; inflammation in his fat, liver, spleen and skin; pain in his hands, arms and legs; and general discomfort.

“He never wanted to run or play. He just felt bad all the time,” Borja said.

During this childhood, Cortez underwent a bone marrow biopsy and multiple biopsies of his skin lesions. Doctors suspected he had smoldering myelomonocytic leukemia, a condition that can develop into acute leukemia. But none of the tests proved conclusive.

As Cortez neared his 19th birthday in early 2011, his symptoms persisted. A dermatologist in Texarkana offered him a diagnosis of atypical Sweet’s syndrome, a treatable condition marked by fever and skin rashes, and started him on a low dose of prednisone.

The dermatologist also referred Cortez to the University of Arkansas for Medical Sciences (UAMS) where he saw a series of physicians, including Peter Emanuel, M.D., director of the Winthrop P. Rockefeller Cancer Institute, who is highly recognized for his research and treatment of pediatric and adult leukemia.

When Emanuel determined that Cortez’s condition was not in fact leukemia, he referred him to a UAMS colleague and dermatologist, Ling Gao, M.D., Ph.D.

And that was when everything changed.

“I examined Brian’s medical records and researched his symptoms in medical journals. That’s when I came across articles describing similar conditions under several names, including CANDLE syndrome,” said Gao, assistant professor in the Department of Dermatology in the UAMS College of Medicine.

She also spoke to the pathologist who examined Cortez’s latest biopsy specimen and discovered that his findings did not seem to correspond with what she saw during her clinical examination.

She continued her research and conducted more biopsies until a diagnosis became clear — Cortez had a rare condition characterized by a gene mutation and known as proteasome-associated auto-inflammatory syndrome.

“We prayed and prayed to find a doctor who could discover what was happening to Brian, and God put the right person in our way,” Borja said. “Our lives changed when we met Dr. Gao.”

After presenting Cortez’s case at the Arkansas Dermatological Society annual meeting in April 2012, Gao was approached by two of the conference presenters about the possibility of receiving assistance for him from the National Institutes of Health (NIH).

She contacted NIH and was put in touch with a physician who was a co-author of studies of similar syndromes, including CANDLE syndrome, and happened to be enrolling patients in a clinical trial.

As a trial participant, Cortez and his mother make monthly visits to Washington, D.C., where he receives drug therapy and undergoes tests. As time goes on, his visits will decrease in frequency, with the expectation that he will eventually only have to return for periodic follow-ups with Gao. In return for his participation, their travel, lodging and medication are paid for by NIH.

Since beginning the trial, Cortez’s fever has stopped, he has gained weight and he has exhibited more energy. He also experiences less pain and discomfort.

“The most important thing is that he isn’t hurting anymore. The quality of his life has improved greatly,” Gao said. “With more knowledge about this condition, I am hopeful that more cases will be recognized. I am so lucky to have met this family. This was an important learning experience for me.”

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