Story highlights

Paisley Morrison-Johnson was diagnosed with a rare genetic disorder

She had two operations on her tongue to help her breathe and eat

Babies with this condition have a higher risk of tumors, but are expected to lead long lives

Atlanta CNN —  

Paisley Morrison-Johnson took her first steps three days ago at age 16 months, a milestone her parents sometimes thought would never happen.

Paisley was born with Beckwith-Wiedemann syndrome, a genetic pediatric overgrowth disorder characterized by macroglossia (enlarged tongue), asymmetric overgrowth of limbs, and a predisposition for abdominal tumors.

Beckwith-Wiedemann is uncommon, affecting approximately one in 13,000 infants, said Dr. Patrick Munson, Paisley’s ear, nose, and throat pediatric doctor.

“One of the greatest hallmarks [of Beckwith-Wiedemann syndrome] is the significant abnormal enlargement of the tongue and often, as a result, the children have difficulty breathing and feeding and in Paisley’s situation, those [factors] were both present soon after birth,” Munson said.

In ultrasound pictures, Paisley’s mother, Madison Kienow, noticed Paisley always stuck her tongue out, but no one made the connection to the syndrome until after she was born and the blood work for the test came back positive.

“We never knew about the syndrome. We are both still young parents and we never thought this could happen to us,” Kienow said.

Munson works at Sanford Children’s Hospital in Sioux Falls, South Dakota, where Paisley spent more than three months in the NICU. He typically sees one or two patients a year with this condition and said Paisley is on the rare end of the spectrum.

“One of the initial striking features was how significant her enlarged tongue was, even compared to previous cases to the children I have seen; she had the largest tongue for her age,” Munson said.

In addition to sleep apnea and not being able to nurse or drink from a bottle, the risk of Paisley choking on her tongue was high.

“We had monitors on her and she was under nurses’ care 24/7,” Kienow said. “[When we brought her home] we had to place her on her side or stomach because she couldn’t lay on her back, they were afraid of the risk of her tongue choking her to death, because when the body is relaxed the tongue slides back. We watched her breathing at night. Basically our sleep schedule was, I sleep, [Paisley’s father] watches, I watch, he sleeps.”

Kienow, who is also a parent to a 6-year-old, said compared to her first pregnancy, this journey with Paisley has been “the worst nightmare of my life.”

When Paisley was 3 months old, Munson recommended tongue reduction surgery.

“Initially we tried a feeding tube in the stomach but she still progressed to where she was stopping breathing and was unable to do oral feeding, so then I discussed doing what is called tongue reduction surgery. Paisley is one of the youngest that we have done this on, we did it at 3 months, we take an anterior wedge from the front of the tongue and take enough tissue out and take the two sides and sew them together. It improves movement with breathing and swallowing and postoperatively, she was able to start breathing, there was no apnea, and she was able to feed.”

The surgery took about an hour, but it wasn’t without its complications.

Munson said Paisley’s tongue swelled so much in the postoperative period that the sutures loosened and the tongue separated, but doctors were able to sew it back together with no further issues.

However, because the tongue is a muscle and can continue to grow, when Paisley was about a year old, her parents noticed her tongue had grown, causing her problems when she was eating and breathing.

“Her tongue has significantly increased in size and she is the first patient that I have ever had to do a repeat anterior wedge resection on,” Munson said. “That operation was done at 13 months of age and she has been able to resume appropriate oral feeding.”

Munson said they continue to monitor her tongue growth and airway.

“The long-term impact of this surgery is not that significant. She should develop near normal taste and speech functions,” Munson said.

Though the operations are behind the young family, Kienow said she worries about what lies ahead.

Paisley is now in speech, occupational and physical therapy.

“She was also born with hemihypertrophy, where one side of the body is a little bigger or longer, so one of her legs is longer than the other one, so she is not walking right now. She has just taken her first steps three days ago, we have achieved quite a few milestones this year,” Kienow said. “My mom tells me ‘there’s always a rainbow after a rainstorm,’ so we can kind of see the rainbow but we still have many years ahead of us [before we are in the clear].”

Munson said the plan for Paisley is to keep moving forward. She continues to have checkups with him and her pediatric geneticist.

“We just manage the symptoms and the outcomes of the syndrome to provide her with the best quality of life possible,” Munson said.