Area families navigate craniofacial differences

Advocates want public to know about conditions such as Crouzon

February 12, 2020 Cranberry Local News

Lisa Bowers pulls back her daughter Madisyn's hair to show Rowan Elementary second-graders Madisyn's zigzag scars. Nick Wiese, sitting next to Lisa, has been acting as a mentor to Madisyn when it comes to talking about her craniofacial differences in public.

Madisyn Bowers is eight years old and adopted. She's a second-grader at Connoquenessing Valley Elementary, can do a split, and wants to be a veterinarian. She likes math. Her favorite vegetable is ketchup.

“I'm just a normal person,” Madisyn said. “And nobody can make fun of me.”

Madisyn is a normal person who has a craniofacial syndrome called Crouzon. It's pronounced like “crouton,” but with a “z” is what her adoptive mother, Lisa, tells strangers.

Lisa also tells strangers that Madisyn is adopted and is going through developmental treatments for Crouzon.

It's best to get these things out of the way, she believes. Craniofacial differences are often difficult not to notice.

“It's the most common thing you've never heard of,” said Dr. Jesse Goldstein, director of the Cleft-Craniofacial Center at UPMC Children's Hospital.

One in 600 to 700 children is born with some craniofacial difference, according to Goldstein.

Some craniofacial differences, like cleft lips, are fairly common. Others, like Crouzon syndrome, are considerably rarer. The National Organization for Rare Disorders estimates Crouzon affects 1.6 out of 100,000 people.

Crouzon is a syndrome, which means it has a hereditary component. A person who has Crouzon has a 50 percent chance of passing it on to his or her child. Madisyn's biological mother has Crouzon and there was a chance Madisyn had it too.

The situation was at first overwhelming. Lisa's mother asked her what she was going to do about the adoption.

“I said, 'I think there's only one thing to do,'” Lisa said. “I'm going to try to make the best of it.”

Madisyn wasn't diagnosed in utero. She wasn't even diagnosed as a newborn. Her official diagnosis didn't happen until she was 15 months old.

It's possible to diagnose this syndrome before a child is born. But it can also be missed by professionals.

“Every year, we are recognizing more causes of craniofacial differences,” Goldstein said. “We're identifying the genetic causes of more and more.”

Goldstein said Crouzon syndrome in particular can be “extremely variable.” Madisyn's level is — though serious — functional.

“She dances,” Lisa said. “She sings.”

Madisyn had her first major surgery — a cranial vault remodeling — in 2013 at 19-and-a-half months old. Doctors made a zigzag cut over the top of her skull to pull back the bones and give her brain space to grow. If the brain doesn't have enough room to grow, developmental issues and blindness can ensue.

Her second surgery was in 2015. This was a fronto-orbital advancement, to bring Madisyn's forehead forward.

Madisyn underwent a posterior cranial vault distraction in 2018. Her doctors installed special hardware that, when turned with a screwdriver twice a day, broadened the back of her skull.

Some of the metal poked through the side of her head like “tentacles,” according to Lisa. The hardware was removed in February of 2019.

Madisyn's next major operation will be a LeFort 3 osteotomy. Her skull will be cracked just above her upper teeth to realign her bite. Lisa hopes to put this surgery off until late spring of 2021. This lets Madisyn spend the summer recovering from surgery.

“So we can go into fourth grade hardware-free,” Lisa said.

Every time doctors cut into Madisyn's skull, they follow the same path to be consistent.

“It always hurts,” Madisyn said. “It's also always sensitive.”

Goldstein said the Cleft-Craniofacial Center at UPMC Children's Hospital has about 7,000 patients and handles around 5,000 visits annually. About 15 medical professionals work in the center, aided by a support staff of 10 to 15 people. A craniofacial team includes everyone from surgeons to dentists.

“There's a growing group of people who are trying to understand the basic science behind these disorders,” Goldstein said.

Madisyn sees nine specialists on a regular basis. The list, which has shrunk over the years, includes professionals who monitor her teeth, eyesight, brain, behavior and over-all growth.

Originally, Madisyn received treatment at UPMC Children's. Now, her surgeries are in Children's Hospital of Philadelphia. It's inconvenient to be so far away from Madisyn's surgeons, but Lisa is careful to keep communication channels open between doctors and specialists.

There are organizations that try to make understanding craniofacial differences easier. Children's Craniofacial Association is one of them.

CCA hosts a national summer retreat every year that gives craniofacial families a special networking opportunity.

These annual retreats help Lisa and Madisyn better understand Crouzon and how to manage it. They also give parents a chance to meet new people and swap stories. Kids have the chance to make new friends.

“It makes me feel good to make sure I'm not alone,” Madisyn said.

Support is key to treatment, according to Goldstein.

“The most important thing they should know is this is a team effort,” Goldstein said.

Lisa wants Madisyn to have the confidence to talk about her condition.

One of the people who is helping Madisyn overcome any reservations is Nick Wiese, a Cranberry Township man who has Apert syndrome. Apert is a “cousin” to Crouzon, affecting bones in the arms, legs and skull. Wiese teaches people about his condition by doing presentations in local school districts. Sometimes Madisyn presents with him.

Wiese always encourages people — adults and kids alike — to ask questions about why he looks the way he does.

“We don't like stares,” Wiese said. “We'd rather you'd be open and honest with us.”

Most of the treatments that comes with craniofacial differences are related to function: Biting, breathing and sight all need to be corrected.

Sometimes, surgeries are also aimed at improving appearance. Kids especially can be aware of how they look before, during and after a surgery.

The goal of craniofacial medical professionals is to improve function and normalize appearance.

“We want to make sure they're breathing well,” Goldstein said. “And make sure they're as healthy and as happy during childhood as they can be.”

Lisa is very realistic when it comes to each procedure. When Madisyn asks if her next surgery will hurt, Lisa tells her it will. It's the truth, after all. And Lisa doesn't want Madisyn to be afraid of the truth.

“I'm happy to talk to people,” Madisyn said. “I'm never shy.”

It takes opportunity and practice. Lisa's seen local interest in Madisyn's story over the years. Seneca Valley senior Madelyn Karchut was inspired enough by Madisyn's journey to use it as part of her senior project.

With Lisa as a mentor, Madelyn organized a spaghetti dinner Feb. 1 to raise money for CCA. Twenty-five volunteers raised $7,000. Six local craniofacial families attended and 200 dinners were served.

That show of support helps families like the Bowers' more than many people know.

Lisa wants the public to be able to follow Madisyn's progress. She'll be putting together a Facebook page called “Madisyn's Mighty Mission” in the coming months.

After all, sharing Madisyn's story might help other people with craniofacial differences. Lisa and Madisyn know first-hand what connecting with similar families can do.

“I navigated this all on my own,” Lisa said. “Now, I can help other parents not navigate it (alone).”

Lisa is getting married in June. After the wedding, she plans to start training to become an official advocate for people with craniofacial differences. She wants to educate the public on conditions like Madisyn's.

“It does get better,” Lisa said. “(But) people also need to learn the good, the bad and the ugly.”