KEY POINTS

  • Lily Jones was born with Nager Syndrome
  • Before treatment, she could only open her mouth about three millimeters
  • 'Distraction osteogenesis' technique has helped her eat and breathe properly

A 12-year-old girl suffering from a rare disorder where she could barely open her mouth has finally got a "life-changing" treatment. The girl's family is happy that she can now eat and breathe properly. 

Lily Jones, of California, was born with the extremely rare Nager Syndrome, because of which she was unable to open her mouth properly. People with this syndrome face craniofacial challenges, including the absence of ear canals and extremely short forearms. Lily also had difficulty breathing and eating.

"It got to a point where she couldn't open her mouth at all. I mean, we could barely get a toothbrush between her teeth to brush her teeth. There's something not right," her mother, Elysia, told CBS13.

Despite treatments, she could open her mouth only about three millimeters, which is the width of two pennies. By the time she was 7, Lily had undergone 15 surgeries. 

That's when the family approached UC Davis Medical Centre in California. A team led by Dr. Craig Senders, director of the UC Davis cleft and craniofacial team, decided to perform a surgical technique called distraction osteogenesis.

"It's very challenging. In fact, you don't know for sure you're going to get to the finish line," Dr. Senders was quoted by CBS. 

The girl underwent four-six surgeries using the technique. "That's where you make a cut in the jaw bone and as it's healing you move it further and further apart. So you're sort of fooling the body to grow new bone," Dr. Senders added.

The team used distraction hardware, a device with screws that attaches to both sides of the jawbone. The screws are gradually turned to create a longer jawbone and more space for her tongue,  the hospital said in a statement.

The surgery worked and Lilly can now open her mouth to about 20 millimeters. "It doesn't sound like a lot, but for her it's huge," said Elysia. "She was able to enjoy her first peanut M&M."  Lily has also added cheeseburgers and tacos to her favorite menu.

Elysia was delighted to see her daughter stick out her tongue at her brother for the first.

Nager Syndrome is a rare disorder that is mainly caused by mutations in the SF3B4 gene. Only 100 such cases have been reported so far as many go without a diagnosis. While most individuals with Nager syndrome are healthy, a few severely affected cases involve serious internal malformations in the kidney or the heart. 

surgery-1807541_640 (3) Representational image Photo: pixabay