Nar, Jr.’s mother, Meaghan, describes the 10-year-old as, “An energetic, go, go, go early bird. He loves the outdoors and really loves basketball right now and fishing. He does really well in school, too, and he’s a very good big brother to his sister.”
But it wasn’t always this way. As a baby, Nar was sick often, with frequent ear infections and recurring pneumonia. And when he was almost two, pneumonia nearly killed him. He had just had ear tubes placed to address his frequent infections when, a few days after that surgery, he developed a high fever. Despite several trips to the doctor’s office, the fever refused to come down. When he developed shortness of breath, too, his parents brought him to the local hospital emergency room. There, a chest x-ray showed that he had severe pneumonia and his white blood cell count was very low.
The hospital immediately sent him to Connecticut Children’s. And a good thing, too, as Nar’s condition was rapidly going downhill. Within 24 hours, he was on a ventilator, his kidneys were failing and he was not responding to aggressive treatment with antibiotics. Teams from across the hospital came together, looking for a diagnosis and a treatment for this boy. And the immunology department finally found it: Nar has a condition that affects only two out of every million births called x-linked hyper IgM syndrome. In this condition, the body usually produces too much of one kind of antibody and little or none of several others. That’s why the infections were so devastating: Nar had almost no immune system.
With that diagnosis, the medical team could begin targeted infusions that boosted his system and knocked down the disease. And Nar continued with those treatments for two more years. While the infusions offer greatly improved protection to children with syndrome, they do not eliminate the risk of infection, and most kids treated in this way do not live beyond age 20. So Nar’s parents elected to have a highly specialized kind of bone-marrow transplant done—a grueling procedure that takes months. Connecticut Children’s helped coordinate this process, and it worked: 10 months to the day after Nar had his transplant, the doctors said he had a fully functioning immune system, and while they won’t use the word “cured,” that’s the practical reality of it. “The team at Connecticut Children’s saved Nar’s life,” says his mother, Meaghan. “There’s no other way to describe it.”