Luke's story: Infant underwent open-heart surgery, now proving strong

May 16—METHUEN — Of all the lessons that come with parenthood, Stephanie and Matt Turmel never expected to have to learn the signs of sudden heart failure first.

But when doctors discovered multiple congenital heart defects in their 5-pound newborn, Luke, the first-time parents were told cardiac arrest was a possibility.

Open-heart surgery at some point in the near future was guaranteed.

And so, a new awareness came quickly; of any tint of blue on their son's tiny lips, prolonged disinterest in food, extreme lethargy.

The Turmels also learned within weeks of welcoming Luke that there was something larger at play — a genetic disorder caused by the deletion of a chromosome, called Williams syndrome.

As the now-16-month-old reaches highly anticipated milestones, the Turmels are sharing their story with the goal of advocacy.

"My husband and I just want to help parents who are processing an unexpected diagnosis or raising a child with complex medical needs," said Stephanie Turmel, a 10th grade U.S. history teacher at Methuen High School.

Experts say Williams syndrome affects 1 in 10,000 people worldwide, including an estimated 20,000 to 30,000 people in the United States, making it rare.

It's characterized by cardiovascular issues — discovered extremely early in Luke's case — developmental delays and learning challenges. Those diagnosed are also known to have striking verbal abilities, an affinity for music and highly social personalities.

Despite the 4-inch scar down Luke's chest where it was opened at six months old, photographs from his first holiday season, birthday and ordinary days in between all highlight his smile.

Stephanie Turmel proudly posted a video of Luke on her social media when he learned to clap, a feat for a Williams Syndrome baby with low muscle tone and trouble with coordination.

"After what he's been through already, we really celebrate everything he's able to accomplish," Matt Turmel said. "Whether he's at physical therapy working on crawling or rolling over, these days it's walking, he's amazing."

The largest, most dire hurdle Luke has already overcome was emergency surgery in July 2021. His mom explained that Luke was under anesthesia while doctors performed an exploratory procedure when he went into cardiac arrest.

"They came into the waiting room to tell us, and it took them 20 minutes to save him," she said. "We didn't know if he was going to make it. and he may not have if the anesthesiologist didn't notice so quickly what was happening."

The medical community has recognized cases of sudden death in people diagnosed with Williams syndrome while under anesthesia, meaning certain precautions need to be taken.

What Luke's mom calls a miracle survival didn't come without a fight. He was in the hospital for 25 days to recover from several complications.

Lifelong residents of Methuen, the Turmels say they're thankful to live within an hour of Boston Children's Hospital and Massachusetts General Hospital, two of only nine Williams syndrome clinics in the country.

"So much of this has just been really shocking," Stephanie Turmel said. "Without any real warning we had a doctor drawing a picture of a heart for us, showing us where Luke had these defects."

She added, "we had never heard of this. and part of the reason we want to share our story now is to get the word out about Williams, so more people know."

She has taken on the job of coordinating an annual walk for Williams Syndrome following a two-year pandemic hiatus. The Turmels were joined by family and friends in their Methuen neighborhood for an abbreviated version in 2021.

This year's event is scheduled for Sept. 25 at Franklin Park Zoo.

In the meantime, they're continuing to learn about their son's resilience.

"You can have some perspective, definitely," Matt Turmel said. "If I'm having a bad day, or something didn't go right in my day, I look at Luke and see what he's overcoming; what my infant has been able to survive."

More information about the syndrome can be found online at williams-syndrome.org. Details of the walk this fall are also there.

Stephanie says she is active on social media, and encourages any other parent looking for support through a child's medical difficulties to reach out.