PCCSF Treats Infant with Rare Immunodeficiency Disease

Pediatric Critical Care of South Florida recently treated a patient suffering from an underlying immune deficiency disorder. The life-threatening diagnosis was discovered when the patient was just three months old.

Ryan Norton looks every bit a happy and healthy infant, a positive turn of events that his parents desperately needed.

Life is a little more normal for Sarah and Kevin Norton of Naples, yet their guard is always up for coughs and sniffles from anyone who comes into contact with Ryan. They want to avoid a new round of chaos.

Ryan, who will turn 1 next week, has a rare immunodeficiency disease called x- linked hyper IgM syndrome CD40L. It could land him back in a hospital on a ventilator and feeding tube, needing blood transfusions and antibiotics. He came home in late March after being hospitalized for all of those frightening interventions since mid-December. His parents never knew whether he would make it.

Ryan will have a bone marrow transplant, planned for next summer when he is a little stronger and older. His sister, Sophie, is a perfect bone marrow match. Sophie is 2½ years old.

The sibling match is a blessing that helps Sarah Norton, 27, and her husband, Kevin Norton, 29, stay upbeat that all should turn out well.

“We stay positive because we have to,” she said. “I wouldn’t be able to take care of him.”

She does Ryan’s immunoglobulin replacement infusions at home, and the family stays close to home to avoid Ryan being exposed to ill people. The sacrifices are hardest on Sophie who wants to go and do fun things, she said.

Finding more current research and medical information on Ryan’s condition also was difficult, Kevin Norton said.

The family has a good support network.

Sarah Norton’s parents live in the main house off Oakes Boulevard, with Sarah and Kevin in the guest house.

Publix has been a help — Kevin Norton is a grocery manager at the Publix at the Vineyards shopping center in North Naples.

Sarah Norton stays home now to take care of Ryan, but colleagues at her former job as manager of Pavilion Royal Scoop Ice Cream — near Paragon Pavilion theater in North Naples — did a fundraiser.

The couple has health insurance, but out-of-pocket expenses will mount when the bone marrow transplant gets done for travel and other costs. A GoFundMe account was established by Sarah Norton’s sister.

Broadly speaking, Ryan’s disease means part of the body’s immune system is missing or does not function properly, according to the Immune Deficiency Foundation in Towson, Maryland. These conditions are caused by hereditary or genetic defects. Some conditions affect a single part of the immune system. Others might affect more components of an individual’s immune system.

“He has a problem making the proper amount of immunoglobulins, which are vital for the body to fight infection,” Dr. Allan Greissman, a specialist with Pediatric Critical Care of South Florida at Joe DiMaggio Children’s Hospital in Hollywood, Florida. He admitted Ryan last December into Joe DiMaggio after he was transferred from NCH North Naples Hospital.

To read the full article, visit Naples Daily News.