Tween stays active through multiple respiratory problems

Adrianna enjoys an active childhood, even as she deals with respiratory issues such as including tracheomalacia and a genetic mutation for cystic fibrosis.

Wheezing is a common sign of asthma in children, but sometimes symptoms of one illness can be caused by another. When that happens, pediatric experts and determined parents must work together to solve the mystery.

As a baby, Adrianna Linett experienced frequent congestion with recurrent cough and ear infections. Misdiagnosis made her discomfort even tougher.

“She was 18 months old and had been congested literally since birth,” said Robin Linett, Adrianna’s mother. “We couldn’t get her diagnosed properly — the pediatrician kept looking for reactive airway disease [asthma].”

Yet her mother persisted, and finally brought Adrianna to meet Maria Santiago, MD, chief of pediatric pulmonary medicine and the Cystic Fibrosis Center at Cohen Children’s Medical Center.

Dr. Santiago examined Adrianna’s respiratory structures with a nonsurgical, fiberoptic system called a bronchoscope. Her assessment revealed that the cartilage in Adrianna’s trachea was too soft — a condition called tracheomalacia. This abnormal tissue in Adrianna’s airway collapses as she exhales, making it hard to breathe.

The condition can cause wheezing, so it’s often misdiagnosed as asthma. But Dr. Santiago knew to look deeper and tested Adrianna’s blood and DNA. “Extensive testing showed she has a deficiency in mannose binding lectin protein,” she said. Not having enough of the protein affects her ability to fight infections of her sinuses and lungs.

Her tests also revealed that Adrianna carries a genetic mutation for cystic fibrosis. The disease causes persistent lung infections, among other problems. Carriers of the mutation usually don’t show symptoms, but Adrianna’s case is rare. She sometimes experiences troublesome mucus buildup.

Ms. Linett remembered learning that several issues were at the root of Adrianna’s respiratory health problems. “I walked out of the doctor’s office feeling a sense of relief,” she said. “I thought, ‘At least we’re finding answers.’”

Life with chronic respiratory infections

Adrianna is now 11 and Dr. Santiago is cautiously optimistic about her conditions.

“We have treatments that loosen the mucus, and she takes antibiotics for the sinus and bronchial infections,” she explained. “It should get better as she gets older, but it should be watched carefully.” At Dr. Santiago’s suggestion, an otolaryngologist (ear, nose and throat specialist) and an immunologist monitor Adrianna’s progress, and the multidisciplinary team consults with Dr. Santiago regarding any new treatments.

“Adrianna is really sweet and she’s done well in school. If there’s a way we can make things easier, we do,” said Dr. Santiago. This includes scheduling surgery to coincide with school breaks so Adrianna doesn’t miss class. “Her mom incorporates the treatments into her day-to-day life as much as possible.”

“It hasn’t stopped her. It hasn’t slowed her down,” said Ms. Linett. In fact, her daughter sticks to a typical school schedule and enjoys activities such as tap dance and summer camp. “Adrianna is really compliant with things,” her mother said. “She takes four to five medications a day, morning and evening to stay healthy.”

“She is a model patient for a kid with a chronic illness because she’s so on top of what she needs to do,” said Dr. Santiago.

“The way that Dr. Santiago has been so responsive and believed me has made a huge difference,” said Ms. Linett.

Already Adrianna’s doctor for 10 years, Dr. Santiago will be part of her life for a long time to come, added Ms. Linett. “I told her, ‘I’m not getting care outside of Cohen Children’s, I need you by my side.’ It’s so important for a child with a chronic illness to have a relationship with the same doctor.”

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Kids First 2018