Chris and Kerry Lynch were blindsided by the “5 p.m. news”on Dec. 8, 2011.
Not by a TV anchorman, but by a doctor’s diagnosis of their daughter’s odd and curious condition. It came nine long and torturous hours after she was born by Cesarean section with a breech birth.
“Your daughter has Apert syndrome,” a geneticist finally told the first-time parents.
Apert syndrome? Their minds raced. Their hearts sank. They searched the Internet for more answers about their new bundle of question marks, who they named Mary Catherine.
“Her face looked kind of scrunched up, but I didn’t know the complexities involved at that point,” recalls Chris, a certified public accountant.
Apert syndrome is a craniofacial condition affecting the head, feet, and hands; a spontaneous genetic mutation that occurs at conception. It’s very rare and occurs in only 1 in 120,000 to 200,000 live births each year in the U.S., according to conflicting studies.
It’s so rare that the couple heard different pronunciations of it by doctors, who appeared baffled by its characteristics: fusion of the fingers and toes, premature fusion of cranial sutures, a sunken mid-face, with physical and cognitive development impairment.
“There were no warning signs at all during the pregnancy,” says Kerry, a registered nurse. “But we were initially told to expect anywhere from 20 to 60 surgeries over her lifetime. Plus, countless therapy sessions – physical, occupational, speech, developmental – to alleviate expected impairments.”
Rare diagnosis
Chris and Kerry, who are both 32 and married for three years, quickly learned more about the syndrome, named for the French physician who first described it in 1906.
A child’s skull is made up of several “plates” that remain loosely connected to one another, gradually growing together to form an adult skull. But a child’s skull with Apert has a premature fusion of these plates, restricting brain growth and causing increased pressure in the brain as it grows.
It’s called craniosynostosis.
“The middle part of her face will never grow and develop properly, which will lead to many other severe craniofacial issues and require numerous intensive surgeries,”Kerry says.
Like most parents of children with special needs, Chris and Kerry quickly have become proficient about such complex medical jargon. They also found an internationally-renowned physician who has treated roughly 150 children with Apert, nearly double that of any other doctor or practice in the world.
“The prognosis for Apert syndrome in part depends upon how the condition is treated, especially in the first few years of life when development is so critical,”says Dr. Jeffrey Fearon, whose Craniofacial Center practice is located in Dallas, Texas.
At 18 months old, Mary Cate has undergone four major surgeries on her hands, feet and skull. But Fearon believes she may need 10 more operations by the end of her teenage years, a relatively low number compared to other Apert children.
Life expectancy predictions for kids with Apert are limited because no one specifically has followed children with this condition for that long, Fearon says.
“I would say that (life expectancy) has been shorter than it should be, but with the right care, life expectancy should be the same as for those without the syndrome,” he says.
Chris and Kerry rely on Fearon and his staff to help manage their select team of physicians, therapists and other health professionals located in the Chicago area.
“There are so many things going on directly from this syndrome that you need a team to handle all her medical needs, and also a quarterback to lead the team,” Chris says. “Dr. Fearon is our quarterback.”
Awareness important to family
The couple, however, has installed their own shotgun offense, of sorts, to spread awareness about their daughter and Apert syndrome. In fact, they started writing their silver-lining playbook just minutes after Mary Cate’s diagnosis.
“Please don’t feel sorry for us. We’re proud of Mary Cate, we love her, and we’ll be fine,” they wrote in a mass email to family and friends.
In the days after, Kerry started a blog and website to educate everyone about Apert syndrome.
“In the short time she has been here, Mary Cate has taught us more about courage and love than we have ever known,” Kerry wrote. “She is a calm and easygoing presence in our home. She could not be more loved.”
This past Mother’s Day, Kerry posted: “When I look back at my post from Mother’s Day 2012, I am sometimes amazed that we are still standing… and smiling. It has been a whirlwind of a year, and at points I feel like we have been to hell and back.”
“There have been days that my heart has been broken into a million pieces and I have laid on the floor and cried right along with Mary Cate,” she wrote. “There have been days when she has woken up with a smile brighter than the sun, and hugged me so tightly that I thought I would burst!”
Because of the blog and website, the couple has received more than a dozen queries from new parents of Apert children seeking the same answers the Lynches once sought.
They also routinely take Mary Cate into the world, not only to get her familiar with other people but to get people familiar with her.
“I took Mary Cate to the park yesterday and the kids just flocked to her,” Chris says, proudly showing off a cellphone photo. “They asked questions about her looks, but then they moved on and just played with her.”
“We are determined to spread awareness. Educate, educate, educate,” says Kerry, who recently gave birth to the family’s second child, Maggie.
The family’s educational campaign includes visiting several schools around their Beverly neighborhood to chat with students, host fundraisers for medical bills and share Mary Cate’s unique story.
“My Mary Cate is a well-known organization in our neighborhood and most of the students knew of Mary Cate and her condition before our fundraiser,” says Kristin Avram, a teacher and student council moderator at Christ the King Catholic School.
The school hosted a “Dress Down for Mary Cate” day and invited the family to meet with every class.
“The students were extremely receptive to Mary Cate,” Avram says. “This fundraiser gave them an opportunity to meet her and ask any questions that children frequently have when they are greeted with someone who is different from them.”
“Mary Cate smiled and giggled the whole time. She stole the hearts of hundreds of students,” Avram adds.
This is all part of the Lynches’ game plan, to educate the world about Apert syndrome while Mary Cate steals the heart of everyone she meets.
“We want the world to know about our beautiful, wonderful daughter,” Kerry says as Mary Cate shows off by scampering across the living room floor into her mother’s arms.
Just like every other parent on the planet.
