Living With a Rare Genetic Disorder | Page 2 of 2

Living With a Rare Genetic Disorder

Despite the challenges, a Gaithersburg boy moves ahead

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“They said, ‘He can live with one kidney—everything’s functioning fine,’ ” Jenna says. She and Dan went on with their lives, working and taking care of Bennett. Then a sonogram at 38 weeks showed that their baby had stopped growing. “That’s when they were starting to question what was wrong,” Jenna says. “Then I worried.”

Bryce was born a few days later and weighed just under 5 pounds. He spent a week in the neonatal intensive care unit, where he was fed through a tube because of his size, but doctors said he was fine. “I just noticed that when I would hold him, he was just so floppy. I know newborns are floppy, but he just had no control whatsoever of his body,” says Jenna, 39. She thought his face looked different than other babies. “I kept saying to Dan, ‘Something’s not right.’ ”

Later, when her friends started putting their babies in infant swings at the park, Jenna could barely keep Bryce from falling out of her arms. Other moms stopped calling her for playdates. When a highly respected New Jersey pediatrician came to speak at Bennett’s preschool, Jenna begged him to fit Bryce into his schedule. “Please, I need this appointment,” she said. “You have to tell me what’s wrong with him.”


Left: Bryce’s parents, Dan and Jenna, often take the boys to the playground in their Gaithersburg neighborhood. Right: Bryce goes to see his physical therapist, Cara Tommer, twice a week before school. “He’s a very persistent kid,” says his dad, Dan. “All these things we need him to do, he’s excited about doing them.” Photos by Lisa Helfert.

“Brycey, are you ready for night-night?” Jenna says on a Monday evening. It’s been a busy day for him—school from 9 to 3, then speech therapy with Emily Lascari, who worked with Bryce at his previous school, Stone Mill Elementary in North Potomac, and now comes to his home. “Yes,” Bryce says. It’s not a perfect Y-E-S, but it’s close, and his parents know what it means. His dad recently heard him trying to say “truck” while they were reading.  

“No, no, you’re not cheating,” Dan says with a smile as Bryce tries to crawl up the steps instead of walk. He usually puts Bryce to bed while Jenna reads with Bennett, a fourth-grader at Rachel Carson Elementary School in Gaithersburg. He brushes Bryce’s teeth, lets him splash his hands around in the sink, and gives him his melatonin supplement to help him fall asleep.

“Dan tickles him to death—that’s why he’s cracking up,” Jenna says.

Bedtime wasn’t always like this. For the first three years of Bryce’s life, his mom slept on a mattress on the floor in his room because he woke up so often. “I don’t know how I functioned,” she says. “I looked awful, I was always sick.”

Doctors were stumped. A neurologist sent Dan and Jenna home with a list of blood tests Bryce needed and a referral to a clinic for children with muscular dystrophy; another physician said there was no way it was muscular dystrophy and ripped up the paperwork. As they waited for answers, they enrolled Bryce in early intervention services—speech, occupational and physical therapy—in New Jersey. “He qualified for everything,” Jenna says. Dan asked one of the doctors they saw if therapy might make a difference for Bryce. “If it makes you feel better, go for it,” he remembers the man saying.  

When Bryce was a year old, a friend of Jenna’s told her about Cuevas Medek Exercises, also known as MEDEK, a psychomotor therapy used to help infants and children who have movement disorders due to neurological dysfunction. The woman had seen MEDEK work wonders on a young girl who had decreased muscle tone like Bryce. “It’s very controversial: Three to four times a week, and you have to sign a waiver,” Jenna says. “They say, ‘We could break a bone, we could dislocate his shoulder.’ ”

Bryce’s therapist, Deborah Goldberg, would place him in a variety of positions so that his body had the chance to experience them with as little hands-on support as possible. “The exercises…are designed to provoke automatic movement responses that contribute to functional mobility,” she says. Goldberg would have Bryce sit cross-legged for 5 to 10 seconds while balancing on her forearm; once he began to gain control of his trunk muscles, she would stand him up and support him only at the thighs, lower legs, ankles or shoulders.  

“It’s all about gravity and training the muscles,” Jenna says. “She would throw him up in the air—the craziest things.”

Within a few months, Bryce was sitting up and rolling on his own. Soon he had control of his head, and his reflexes started working. When Dan got a job offer in Montgomery County in 2010, he and Jenna looked for a MEDEK program in the area but couldn’t find one that was accepting new patients, so Jenna moved in with her mom and kept the boys in New Jersey until Bryce was done with therapy. Dan took the job and drove back to New Jersey on weekends. After a year and a half of MEDEK, Bryce was crawling. “We went back over winter break [last year] and saw his therapist, and she’d never seen him walk before,” Jenna says. “He walked in and just…tears. She couldn’t believe it.”

When Jenna moved the boys to Gaithersburg in June 2011, she called the Infants & Toddlers Program to set up an evaluation for Bryce. Three therapists and a special education teacher showed up at her door for the first appointment, she says. They brought Bryce a walker he’d needed for months and started scheduling physical, occupational and speech therapy. In New Jersey, she and Dan had to pay for early intervention services, which was hard to do on only one salary, and the therapists didn’t work as a team. She was impressed by what Montgomery County offered. “I looked at them like: What’s going on? This is free?” Jenna says.

Bryce was 2½ when Dan and Jenna brought him to the Kennedy Krieger Institute. The symptoms Jenna had seen in Bryce—weak and floppy muscles, overheating, flaky toenails, and a high tolerance for pain—matched the description of PMS she had read about when she was doing research online. “You have to test for this one syndrome,” Jenna told Jessica Ditto, Bryce’s nurse practitioner. She and Dan had waited six months for the appointment. “I’m telling you—this is what he has.”

Ditto had never met a child with Phelan-McDermid syndrome; she asked colleagues about it, but they hadn’t, either. She looked it up in the medical literature and ordered a variety of genetic tests for Bryce, including a chromosomal microarray which looks for duplications or deletions. “In the 10 years that I’ve been in developmental pediatrics, the technology has improved exponentially,” Ditto says. A decade ago, she says, Bryce’s disorder may not have shown up in the testing. “It’s gone from looking at hundreds of points of genetic material to thousands upon thousands.”

Ditto called Jenna with Bryce’s test results a few weeks later. “I can’t believe it—you were right,” she said.

Finally, Jenna thought.

She’d already done her mourning, she says, and faced the realization that Bryce wasn’t like most kids. But at least she had an answer now. At least she could start looking for other parents who might understand.

On a warm, humid Saturday morning at Washington Nationals Miracle Field in Germantown, Bennett is helping his little brother get from third base to home plate. In the Miracle League of Montgomery County, a baseball program for children and youths with mental or physical challenges, every player is paired with a “buddy,” so Bryce already has someone to help him hit and round the bases. But Bennett wants to walk with him, too. He likes being a part of everything Bryce does: He takes notes during Bryce’s physical therapy appointments, and with his parents’ help he turned an upstairs loft at home into a therapy room where he helps Bryce with his exercises. When Bryce wants cereal, Bennett wants to be the one to give it to him.

“What’s wrong, Boo?” Bennett asks as Bryce lies down on the players’ bench and rests his head on Bennett’s lap. The heat is hard on Bryce—he can only play outside for short periods of time before he starts developing red splotches on his face and legs. “You OK?”  

For a while, Jenna says, Bennett would get frustrated because he wanted to play with Bryce, and his brother wouldn’t respond to him. But over the last year, Bryce has started bringing Bennett the TV remote, his way of asking to watch a show, instead of handing it to Jenna or Dan. “He’ll walk up the stairs holding my hand and show me where he wants to go,” Bennett says. One of Bennett’s friends recently told Bryce that he had great dance moves. “None of them see Bryce as any different anymore,” Jenna says.

When Bennett swam butterfly in a swim meet for the first time this summer, something he’d been trying to accomplish, he got out of the pool and ran to his brother first. He’s usually the first to open Bryce’s backpack after school and pull out the electronic device that Bryce’s teacher uses to record short voice messages about his day at school: “I ate all my lunch, but I threw lots of my cucumbers; we did writing on the chalkboard and calendars.”

Bennett has told his parents that when Bryce gets hurt, he feels it. “Like a twin thing,” Jenna says. When the family traveled to the Bahamas last spring, Jenna and Dan put Bennett in their king-size bed, thinking they’d move him later, and let Bryce fall asleep on the pullout couch that was lower to the ground. Every night, they’d come in from the balcony to find Bryce in their bed snuggled up next to his brother. “In the morning, we found him sleeping on my head,” Bennett says.

Jenna and Dan decided early on that they weren’t going to keep anything from Bennett. He’s mature for his age—Jenna calls him an “old soul”—and if he’s away from his brother for a night, he calls to check on him. “The love that’s there—you can see it between both of them,” Seiden, the boys’ grandmother, says. “What better way to teach a child that kind of compassion?”

Last fall, when Bryce had a febrile seizure brought on by high body temperature, Dan and Jenna had to bring Bennett with them to the hospital because they didn’t have anyone to watch him. It was Bennett’s first time at the hospital with Bryce, and after his seizure stopped, Bennett stood by his brother’s bed and sang to him. It was the only thing that seemed to calm him down.

When Jenna saw her 4-year-old son walk for the first time, in the middle of a physical therapy session, she texted Dan to tell him, and he didn’t believe her. “I was so angry,” she says. “He came home from work and I literally didn’t want to speak to him.” He’d heard his wife say things like that before—“Bryce just said a new word!”—but whenever that happened, he couldn’t get Bryce to do it again. That night, while Dan was doing work in the living room, she stood Bryce up near the fireplace and he walked across the room.

“He walked!” Dan yelled. “He walked. We need a video!”

“I told you he could walk,” Jenna said through tears.

Over time, he started walking faster, then running. “No looking back,” Dan says.

After Bryce’s diagnosis, Jenna joined a Facebook group called “The 22q13 Deletion: PMS Family Support Group” and began reaching out to other parents. She heard about families making index cards for their kids to carry around that read: “My name is xxx and I have this syndrome called Phelan-McDermid. If you’re curious about it, why don’t you Google it?”

When a group of families from all over the country got together at the Lakelands Clubhouse in Bryce’s neighborhood—Katy Phelan came to speak—Jenna and Dan saw a young girl in a wheelchair who had a breathing tube. They have plenty of tough moments, Jenna says, like when Bryce throws himself on the ground and won’t move (she has back problems from lifting him), or when kids at the park ask her why Bryce doesn’t talk. “He was born that way,” she’ll say. But they realize how lucky they are. They’ve met parents who can barely leave the house because their kids can’t handle public places. Jenna’s heard about several couples whose children have PMS who’ve separated or divorced; she knows the toll a child’s illness can take on a marriage. “If you go anywhere—NIH, any of the doctors appointments, they’re always like: ‘Your husband’s with you?’ ” she says.

Jenna’s brother, Lee, lives with the couple and her mom has a townhouse down the street, so Jenna and Dan get to take walks and go on dinner dates. On weekends, they put Bryce in his room to nap for an hour and a half. “It’s more for our sanity than his,” she says. “It’s too long of a day.” They don’t agree on everything—she thinks therapeutic horseback riding lessons are helping Bryce; Dan doesn’t—but they balance each other, she says. She’s the nervous Nellie; he’s the rock. “He stops everything to go to all of Bryce’s appointments and to be as much a part of it as me,” she says.

When Bennett was a toddler, Jenna and Dan got used to taking him everywhere, and they didn’t want that to change because his baby brother had special needs. So even though Bryce gets loud at restaurants and grabs food that isn’t his, and some people stare or roll their eyes, the family goes out anyway. “I said to Dan, ‘Looking back, before we had kids, how would we react?’ ”

Jenna says. “He looks so normal, so I guess people think he’s just a misbehaved kid.” Two years ago, a woman they didn’t know approached them at Silver Diner in Rockville and said, “Kids shouldn’t have iPads at the dinner table.” You try sitting here with him, Jenna thought, this is the only way we can go out to eat.

Alicia Thompson, Bryce’s classroom teacher at Stone Mill Elementary, where he spent more than two years beginning at the age of 3½, made a scrapbook for him and his family when he graduated from the Preschool Education Program (PEP) in June 2014. She filled it with photos of Bryce in the classroom—playing on a sensory board, holding a crayon on his own, turning the pages of a book—along with handwritten notes about what he’d accomplished.  

“Here you are sitting still with no supports, with a little shadowing, at the computer. Before, you would jump around and push yourself back making sitting on the bench impossible,” one note reads.

In her 11 years at Stone Mill, Thompson has taught many children with rare syndromes that she didn’t know about. Most are more medically fragile than Bryce; some need to be fed through tubes. At the beginning of her time with Bryce, he could only move around with a gait trainer, then he moved on to a walker. Over time, he needed only a teacher’s hand. He eventually was cruising the hallways—he likes to explore—and Thompson had him help bring the class attendance to the office every day.

“That was one of the most rewarding experiences of my life—to see him walking,” she says. “I always tell the parents, ‘Yeah, doctors know a lot, but you can’t lose hope.’ ”

Recently, in speech therapy, Jenna saw Bryce pick out eyes, a nose and a mouth for Mr. Potato Head—scanning a board for the part he needed, pointing to it, vocalizing on command. “Every day is a new thing with him,” she says. When he intentionally throws something on the ground, which children with PMS often do, she’s started telling him to pick it up.  It’s hard for her to follow through, she says, because Bryce looks at her with a sweet smile she can’t resist. But she tries. “He knows what he’s doing—he’s just starting to understand.”

Jessica Ditto wishes she had a crystal ball so she could tell Bryce’s parents what his future holds, but it’s hard for anyone to know. There aren’t many studies available about adults with PMS—the Phelan-McDermid Syndrome Foundation recently started a group for adolescents and adults to learn more about what happens as children age. Katy Phelan, who helped organize the foundation, knows of adults who lost skills as they got older, including the ability to walk, but says it’s often the unusual cases that make the medical journals.

“You’re not going to publish [on] the adult that’s 40 years old and doing great,” Phelan says.

Jenna has read about the regression, and about people in their 20s and 30s who develop life-threatening medical issues, but she won’t let herself think about that. For now, she’s focused on the day to day—getting Bryce on the school bus (which he loves), making sure Bennett does his homework before swim practice. A few months ago, she saw drops of sweat on Bryce’s forehead for the first time, a sign that his body might be starting to regulate itself.

In May, she found out about a new clinical trial involving a hormone called oxytocin, which has been shown to ease social deficits in rats. Researchers want to see if administering oxytocin to children with PMS, through a nasal spray, will improve their social skills. Jenna posted a link to the story on her personal Facebook page and wrote, “HOPE for Bryce and others with Phelan McDermid Syndrome!!!” She and Dan were excited to tell Bennett that there might be a medicine available soon that could help Bryce, maybe even get him to talk more. They couldn’t believe Bennett’s reaction. “I don’t want him to take it,” he said. “I like him the way he is.”

Senior Editor Cindy Rich can be reached at cindy.rich@bethesdamagazine.com.

 

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