Families with Apert syndrome find similarities, not differences

Apert syndrome
Madilynn and her father Rocky

For some families in the waiting room on the day of the Apert syndrome clinic, it’s a reunion. For others, it’s a revelation. Coming to Boston Children’s Hospital from as far away as China, some have never met another child with Apert syndrome. Before long, parents and kids of all ages and ethnicities are taking group selfies as the younger children run around and play.

“These kids have the brightest smiles, they’re very resilient,” says Tambra Milot, mother of 3-year-old Madilynn.

Each year, the clinic sees about 50 children with Apert syndrome, a rare genetic disorder in which the skull, face, hands and feet develop abnormally. The clinic is held at least twice a month, bringing together the specialists each child needs to see. Today, families are also here for the weekend, to exchange information and learn about the latest research at Boston Children’s 2016 Apert Family Symposium.

Cameron Elliott, age 6, from North Carolina, is also here for surgery. His operation, called a fronto-orbital advancement, will move his forehead and brow rim forward. This will provide more protection for his eyes, which are prominent in children with Apert syndrome. For Cameron, the operation can’t come soon enough.

“In February, Cameron fell and hit his eye,” says his mother Jessica. “His retina detached, and he’s now blind in that eye. It was incredibly traumatizing for our family.”

Facing differences

Many families have referred each other to Boston Children’s through Facebooks. There are at least three groups: the Apert Syndrome and Syndromic Craniosynostosis Awareness Group, Apert International and Apert Owl.

Cameron
Cameron

When the Elliotts learned that Cameron would be born with Apert syndrome, they were told not to Google it — the images would be too scary. Today, Jessica and Cameron visit elementary schools, giving presentations about Apert syndrome and facial differences. “All kids have questions,” Jessica says. “It’s all about how you answer them. They’re genuinely curious.”

Children whose parents have not had good conversations with them are more hurtful, she notes. On their school visits, she brings along the popular book Wonder, about a boy with a craniofacial condition who starts middle school after being home-schooled. While he doesn’t have Apert, the storyline is much the same.

“Kids can be cruel, saying, ‘what’s wrong with his face? He looks like a monster,’” Jessica says. “Differences can be scary.”

Cameron has already had two hand operations to release fingers that were fused together because of Apert syndrome. In his 6 years, he’s had multiple other operations to correct separate medical conditions.

In the clinic with Madilynn

Like the Elliotts, Tambra and Rocky Milot learned something was wrong with Madilynn after a prenatal ultrasound exam. “Her hands look clenched,” they were told. They were warned this could signal a neurologic problem.

Instead, Madilynn was diagnosed with Apert syndrome two weeks after she was born. To date, she’s had three hand operations, two operations on her feet to release fused toes and an operation to correct craniosynostosis, in which the plates of the skull fuse together too soon and put pressure on the brain. Boston Children’s surgeons coordinated to do some operations on the same day, minimizing Madilynn’s exposure to anesthesia.

The clinic gets underway. An army of specialists — craniofacial surgeons, hand surgeons, dentists, oral surgeons, ophthalmologists and more — circulate from room to room.

Olivia Oppel, a nurse in the Department of Plastic and Oral Surgery, is first to enter Madilynn’s room. She examines Madilynn, measures her head and asks about her sleep: is she showing signs of sleep apnea, or pauses in breathing during sleep? If so, it could indicate the need for surgery to keep her airway more open at night.

“She doesn’t snore, but sometimes she wakes with a gasp,” says Tambra. Oppel suggests an overnight sleep study closer to the family’s home in Texas. They discuss Madilynn’s most recent eye exam, which went well, and her speech, which seems to be on track.

Plastic surgeon Dr. John Meara and neurosurgeon Dr. Mark Proctor, who performed Madilynn’s craniosynostosis surgery, are next to come in.

“Her eyes look good,” says Meara, examining Madilynn’s face. He supports the idea of a sleep study. “They tend to underdiagnose sleep issues in Apert, so I just want to make sure we don’t miss anything. Her brow looks good, and the relationship of the brow to the eyebrows.”

“How is she doing cognitively?” Proctor asks.

“She’s very smart — sneaky, too,” says Tambra. “But she’s very excitable, so we wonder about hyperactivity.”

apert syndrome
Madilynn with Brenna Hogan from the Department of Plastic and Oral Surgery

Proctor suggests that the local pediatrician refer Madilynn for a developmental evaluation.

“Next thing we’ll seriously talk about is when to move the midface,” says Meara. He’s referring to a procedure called the LeFort III or midfacial advancement. It brings the middle part of the face forward, opening up the airway. “If she’s not having sleep apnea, we could wait until she’s 9, 10, 11 or 12.”
Tambra asks about the pronounced height of Madilynn’s head. Meara thinks they should leave well enough alone.

Proctor agrees. “The brain likes getting more room,” he says. “It doesn’t like being pushed down.”

Dr. Amir Taghinia, an attending surgeon specializing in hand surgery, enters next. He examines Madilynn’s fingers as she squirms, explaining to the Milots that every child with Apert has a different hand grasp and that use of her hands will improve as she develops.

“Can I take some pictures of your hand?” he asks Madilynn, pulling out a toy to distract her. “Let’s take some pictures of the other hand.”

Hand surgeon Dr. Brian Labow joins him. Taghinia quickly briefs him: Madilynn’s pinky sticks out to the side. “She also bypasses her index finger,” he adds. “She could use some more treatment, certainly on the right side.”

The surgeons check Madilynn’s toes, too. “If the big toes are causing problems with shoes, we can address that as well,” Labow tells the Milots.

They discuss the options for doing further operations on Madilynn’s hands and feet.

“We need to prioritize,” Labow says. “Do we want to do arms first or legs first? She will not want four casts.” He says “arms” and “legs” because each operation requires the entire limb to wear a cast.

“I definitely don’t like the idea of two arms at once,” says Rocky. “I like the idea of doing a foot and a hand.”

“We can put it off for a year. We’re at that point where we can pick and choose timing,” Tambra adds.

“So let’s get some pictures [X-rays] today and see what we can do,” Labow says. When you’re ready, we’re ready. It’s worth starting to think about these things.”

Last to examine Madilynn is orthodontist Dr. Richard Bruun.

“As her teeth start coming in, it’s kind of crowded,” says Tambra. “How is that addressed?”

“We look at that on a case-by-case basis,” says Bruun. “We look for permanent teeth that are really getting in the way of one another.”

He looks inside Madilynn’s mouth as she sits in her dad’s lap. “The width of Madilynn’s upper arch is remarkably good,” he tells the Milots. She does have smallness in the side-to-side direction, he adds, but he doesn’t think it will cause much of a problem with eruption of permanent teeth.

“You should be good for a number of years,” he tells them. He suggests they find a dentist in Texas who’s comfortable with kids who have differences, but jokes that Madilynn’s mouth is “incredibly boring.”

“We like boring,” says Tambra.

Surgery for Apert: How much is enough?

Tambra, Jessica and a third parent spoke on a panel at the Apert Family Symposium about their experiences raising a child with Apert, which the surgeons also heard. One common question parents face is when to stop doing operations. It’s an individual decision. Some families choose only operations that are medically necessary, like craniosynostosis surgery to relieve pressure on the brain, and midfacial advancement to address sleep apnea. While most families opt for hand surgery so their children can have finger dexterity, foot surgery is more optional.

Apert syndrome
Apert patient Kyle Johnson with his brother Brandon

The same is true for cosmetic surgery to make the face look more typical. Some families put off further operations until their child is old enough to have a say.

“Of course we want our kids to look as normal as possible, but at what risk?” says Tambra. “I’ve heard some say that it isn’t worth it. We put her health first. As rare as this condition is, every kid writes their own book.”

Learn more about the Boston Children’s Cleft and Craniofacial Center.