Patient of the Month: Joshua

April 2019

Shortly after Joshua was born, his mother began to notice he was constantly coughing and sneezing. As any new mother would, she asked the doctor what was wrong with her newborn. He told her that nothing was wrong and that it was completely normal.

Two weeks later, Joshua's cough worsened. Anxious and worried, his mother took him to see a pediatrician who suggested she take him to the emergency room. Following three visits to the emergency room, Joshua was finally admitted for five days. Being sick became a constant pattern, causing Joshua to be in and out of emergency rooms and urgent cares.

At two months, he became very lethargic and began to show blood in his stool. His mom decided to return to the emergency room where he tested positive for influenza A and swine flu. Time passed and Joshua remained sick. He developed mono, constant ear infections, respiratory infections and bronchitis – all within a year of life.

His mother took him to many different specialists, with all visits resulting in different answers. The gastroenterologist would take care of the blood in his stool, the pulmonologist was helping him with breathing issues and the allergist was focused on all his allergies. This is where Pablo Laufer, MD, Infectious Diseases Specialist at Nicklaus Children's Hospital cracked the case.

Joshua had an immune deficiency called immunoglobulin A (IgA) deficiency – the most common immune deficiency amongst children. One out of 200 children will have IgA deficiency. The second condition Joshua had was low white blood cells caused by a viral infection, presenting as if he had leukemia.

After more than a year of scares, Joshua's mom was relieved to learn that he finally received the proper diagnosis. Since being diagnosed by Dr. Laufer, Joshua has not had any hospital encounters. Today, Joshua is a healthy and active five-year-old who attends school and enjoys playing baseball as well as the guitar.

“When I look at what I do with children, I always put myself in the position of the parents. Every single day, you can make the decision of helping somebody, or not helping somebody go the extra mile. It makes me feel better when I go the extra mile,” concluded Dr. Laufer.

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