Rare genetic abnormality can’t touch Ben’s love of life

“Ben was losing weight, vomiting all the time and getting life-threatening pneumonias,” Mary said. “Unfortunately, the doctors who first saw him, who were not with UW Health, essentially dismissed my concerns about the seriousness of Ben’s condition. One even wrote in the medical record that I should have a psychiatric evaluation. I was crying my eyes out because I was afraid we would lose my son, but nobody was really listening.”

Not until Ben was 11 months old did Mary embark on a path that would allow her to exhale by unlocking this medical mystery. She credits UW Health pediatric surgeon Peter Nichol, MD, with being the first doctor to take her concerns seriously.

“Ben just didn’t look right to me,” Nichol said. “He had some unusual facial features that indicated something genetic might be going on.”

Mary was incredibly relieved. Finally, she thought, a doctor was asking the right questions and listening intently as Mary described what was going on with her son.

Nichol’s testing confirmed that Ben was experiencing reflux from his stomach up to his airway. He was also aspirating, causing chronic problems with his lungs. Anti-reflux surgery, also known as Nissen fundoplication, would be needed to correct this problem.

During the operation, which Nichol has performed more than 100 times, he wraps the top 10 percent of the stomach around the lower five percent of the esophagus, creating a valve to stop the backflow of stomach acid into the airway. Nichol’s next step was sending Mary and Ben to Dr. Greg Rice, a UW Health pediatric geneticist located at the UW’s Waisman Center, just across from American Family Children’s Hospital.

Genetic test at age one reveals highly rare condition

In 2012, not long after Ben’s first birthday, Rice conducted chromosomal micro-array testing – the standard at the time – revealing the culprit. Ben’s genetic code, which governs everything from breathing to eye color, was missing one of the usual two copies of a gene known as NKX2-1, which normally lies on the 14th chromosome. This genetic abnormality, known as Chromosome 14q Deletion, is extraordinarily rare; only about 10 cases about this condition have been published in the medical literature.

“You can think of a chromosome like a necklace with hundreds of pearls that each represent one gene,” said Dr. Rice. “We don’t know every gene’s purpose, but we know that Ben’s lack of a copy of this important gene explained much of what was going on. His condition is sometimes called brain, lung and thyroid syndrome because it severely impacts a child’s cognitive development, pulmonary system and physical growth. It also makes a child very prone to respiratory and sinus infections, and Ben has had many of them.”

As devastating as the news was for Mary, her husband Rick and their four other children, she was grateful to finally have a diagnosis for her son.

“We had a million new questions," she said, "but at least we had a name for it."

Soon, Ben became a “frequent flier” patient at American Family Children’s Hospital, with care coming from specialists not only in genetics, but also immunology (due to his susceptibility to infection), pulmonology, endocrinology and neurosurgery. Helping coordinate Ben’s specialty care from within the hospital is AFCH’s Pediatric Complex Care Program.

“We also serve as a first contact point for families, so they don’t have to contact more than one specialist when they’re unsure which doctor to call first about their child,” said Dr. Ryan Coller, who co-founded the Complex Care program in 2014.

Dr. Chris Seroogy, a pediatric immunologist who sees many complex patients, said that children like Ben do best when the family advocates forcefully while being willing to tolerate ambiguity.

“Caring for children like Benny means dealing with many shades of grey, because the body of knowledge about his condition is not that large,” said Seroogy. “Definitive answers are often hard to come by. As an immunologist, it’s my role to monitor Benny carefully to minimize risk for infection.”

Seroogy said Mary is one of the most dedicated parents she has met.

“She is so engaged with the care team and her love for Benny flows so freely. This makes our job so much easier.”

A laugh, a hug or a twinkle in the eye

Nothing about Ben – cognitive or physical – has escaped being impacted by his genetic condition. Among his deficits is speech, so he expresses himself nonverbally. Sometimes it’s a laugh or a hug; other times, it’s a glowing twinkle in his eye.

“When he’s happy, he giggles a lot,” said Mary. “He also loves having people around, so if he is left alone for too long, he might pound his fist. As a parent, you become very familiar with his nonverbal cues and body language.”

A fifth-grade student at Elvehjem Elementary School on Madison’s east side, Ben has a special education assistant (SEA) by his side at all times.

“The SEA has to be within arms’ reach of Ben at all times,” Mary said. “This person helps him in and out of his wheelchair, tends to his needs and keeps him safe. Sometimes, my little ‘Evel Knievel’ likes to rock in his wheelchair. He also has to be kept away from stairs to prevent falls.”

Many of Ben’s classmates are eager to help however they can. All Ben has to do is hit his large “Big Mack” switch button, audibly signaling that he needs something, and a friend is at the ready.

Friends and teachers are wonderful

“When Ben started school, I was afraid he would be left alone in the corner,” Mary said. “It has been anything but that, and many of his friends understand how important it is to stand up to bullies who might pick on a kid like Ben. Most of the kids and staff just adore him. We have been very lucky.”

Looking back, Mary feels nothing but gratitude to have a son like Ben. After 18 surgeries, several bouts of pneumonia and other respiratory infections, life is a bit less hectic now that Ben spends far less time in the hospital and more time at parks, beaches and the Henry Vilas Zoo in Madison. None of these fun activities would happen today without the attentive ear of a UW Health pediatric surgeon nine years ago.

“I will always credit Dr. Nichol for saving his life by taking me seriously and getting Ben on the right track,” Mary said. “Kiddos like him teach you not to mind life’s little irritations or take a minute for granted. You enjoy every cuddle, every giggle and every hug. We are very blessed.”