Mary Bernier and her son Samuel embrace at their home in Westbrook. Bernier is the primary caregiver to her 18-year-old son, who has an extremely rare genetic disorder called Johanson-Blizzard Syndrome. The Robbie Foundation gave Bernier the gift of a spa getaway day to recognize her hard work and dedication to her son. Staff photo by Brianna Soukup

Every Saturday, Mary Bernier and her 18-year-old son, Sam, have a routine.

They order breakfast sandwiches and iced coffees at Dunkin’ Donuts – a favorite treat. Then they drive from their home in Westbrook to the Portland International Jetport to watch the airplanes take off and land.

“Hazelnut swirl, cream only,” Bernier, 44, said, recounting her son’s coffee order.

It is a morning of calm in a life that can be chaotic.

Sam was 5 months old when he was diagnosed with Johanson-Blizzard syndrome, an extremely rare genetic disease that affects multiple organ systems. The symptoms can vary from person to person, but for Sam, the disease has prevented him from growing and gaining weight at the expected rate. It also means he is intellectually disabled and mostly nonverbal. His movement can be limited, and he sometimes uses a wheelchair. Since infancy, Sam also has been diagnosed with epilepsy, type 1 diabetes and hypothyroidism.

“You don’t plan to have a child with special needs,” Bernier said. “But it was one of the best things to happen to me as a human being. Not as a mother, but as a human being. It has made me a better human being.”

Last weekend, Bernier was able to treat herself, too. Twice a year, the Robbie Foundation, a Scarborough-based nonprofit that supports children with special needs, selects families for a relaxing getaway. Founder Lynn Gierie said many parents who are caregivers for their children do not spend money on themselves or have time to recharge. So the organization chose Bernier for a spa day Saturday at the Inn by the Sea in Cape Elizabeth.

“Parents, often just being the primary care providers for kids, don’t get that break that they need,” Gierie said.

Samuel Bernier plays with his toy train as his mother watches. She said that having a child with special needs is “one of the best things to happen to me as a human being. … It has made me a better human being.” Staff photo by Brianna Soukup

NOMINATED BY HER BOSS

Gierie said the Robbie Foundation received more than 100 nominations, all deserving, for the getaway prize. Bernier stood out in part because of the severity of her son’s diagnosis and her desire to provide Sam in-home care for as long as possible.

“She’s just a superhero to a lot of her friends and family,” said Gierie, whose family started the foundation in honor of their son Robbie, who has cerebral palsy.

The Robbie Foundation also raises money to buy adaptive equipment, therapy treatments and communication devices for children with special needs. Many of those items are too expensive for families and not covered by insurance.

Bernier said she knew of the Robbie Foundation, but she was not aware of their prize for parents. Her boss nominated her, and she said she was humbled when she got the news. The Robbie Foundation offered her a couple of options for a getaway, and she chose to spend her spa day with her fiancé, Chris. Sam spent the day with his dad.

“A lot of us, we just go through the motions every single day,” Bernier said. “To be able to step away from that and not have to worry about somebody else or take care of somebody else is nice. It’s not the norm, but it’s nice.”

Mary Bernier runs over to the fridge to stop her son Samuel from grabbing something from the top of it. Bernier spends most of her time and energy on Sam. Staff photo by Brianna Soukup

The couple enjoyed lunch at the inn, facials and massages. Bernier said her favorite part was the facial – a new experience for someone who describes herself as “a low-maintenance girl.”

“I would never have spent this amount of money on myself,” Bernier said.

She spends most of her time and energy on Sam.

When her son was born, Bernier said she immediately knew something was wrong. The baby did not seem to be interested in people’s faces like her older daughter, Emma, had been. A geneticist at Eastern Maine Medical Center in Bangor soon diagnosed Sam with Johanson-Blizzard syndrome, which can be fatal in some infants. The National Organization of Rare Diseases reported the exact incidence of the disease is unknown, but the frequency has been estimated to be 1 in 250,000 births.

Bernier learned everything she could about the disease. She got medical journals on interlibrary loan at the Portland Public Library and read what information was available on the internet. Because Johanson-Blizzard syndrome is so rare, she said she often has to educate service providers and medical professionals about her son’s diagnosis.

As Sam has gotten older, he has developed his own way of communicating. Some words and sounds are more clear than others, but Bernier always knows what he means. Sitting on their couch Friday, he touched his mother’s face and made a sound. No, she told him, we don’t have any lasagna.

“I understand what he says,” Bernier said. “It’s Sam language.”

Samuel has developed his own means of communication, and his mother always knows what his words and sounds mean. Staff photo by Brianna Soukup

PEOPLE ASK: ‘HOW DO YOU DO IT?’

At Westbrook High School, Sam works with a one-on-one aid who has known him since he was in third grade. Every morning, Bernier takes him to the bus stop at 6:50 a.m. and gets to her job at Target in South Portland at 7 a.m. She has worked there for 15 years, she said, and her managers always have been understanding if she needed to leave to get Sam or stay home when he is sick. School and work both end at 2:30 p.m., so Bernier rushes home to meet Sam at the bus stop.

In the afternoon, he likes to play with toys or watch videos on his Kindle. His favorites are videos of snowblowers. The refrigerator at their house is decorated with his drawings. They eat dinner, and sometimes Sam gets a shower. His mom checks his blood sugar every three or four hours. Sometimes she has to carry him, or he rides in an adult stroller. He can’t use the bathroom or bathe by himself. He spends a couple of nights a week with his father, who is divorced from Bernier. When his mom tucks him into bed between 8 and 9 p.m., she whispers in his ear, “I love you.” He always whispers it back.

Bernier said she wants to take care of Sam as long as she can, and she does not want to put him in a group home or residential care. She and Sam’s dad are his guardians, as is his sister Emma, who is now 20. He will spend two more years in school, and then the family will work with his case manager to determine the best option for him during the day.

“You do mourn what you thought you were going to have,” she said. “He didn’t play sports. He won’t get married. I won’t have grandchildren through him. But you move on. People say, ‘How do you do it?’ Because I have to. We’re parents, and that’s what we do.”

She gets upset when adults stare at her son in public, wanting to protect him from their judgment or rudeness. But Sam never notices or cares, and Bernier said it is a reminder to focus on the good in life – like a plane taking off, or the spray of snow from a snowblower, or an afternoon at the spa.

“I see life so differently,” Bernier said.

Megan Doyle can be contacted at 791-6327 or at:

[email protected]

Twitter: megan_e_doyle

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