Living With a Rare Genetic Disorder - Bethesda Magazine

Despite the challenges, a Gaithersburg boy moves ahead

By Cindy Rich 

Six-year-old Bryce Goldblatt wasn’t expected to walk. Now he’s doing that and more. Photo by Lisa Helfert.

Like many kids his age, Bryce Goldblatt would spend all day at the playground if he could. There’s a small one near his townhouse in Gaithersburg, with just a slide and a rock climbing wall, and if his parents let him, he would run and play there until he was too tired to move. If he falls, he gets up and keeps going—he could get hurt and he wouldn’t even notice. When it’s time to go home, he often pulls on his mother’s hand, trying to get her to turn back.

Bryce, 6, also loves the beach and the pool. And pancakes, peekaboo and his little truck book. The more bubbles in his bath, the better. Everyone who knows him talks about his smile. He likes waterslides, unhooking the straps on his car seat, shopping at Wegmans and chasing his 9-year-old brother, Bennett. If somebody hides the TV remote, he’ll find it. In preschool, he used to give his Goldfish pretzels to a classmate and then take that little boy’s egg rolls.

But Bryce won’t sit down and play with a toy or draw a picture. He doesn’t get excited for his birthday or Halloween. He watches three shows—Mickey Mouse Clubhouse, Bubble Guppies and The Fresh Beat Band—but only the same episode of each, over and over again. He has to be buckled into his chair for meals, and has trouble using a fork or spoon.

His mom, Jenna, carries cooling towels, Children’s Tylenol and Diastat, a medication that can help stop seizures, everywhere she goes. Strangers have asked her why she lets her son play outside in shorts on a winter day. “I can’t believe you have him in that,” one said.

Jenna could tell people that Bryce has a rare chromosomal disorder called Phelan-McDermid syndrome (PMS), which causes him to overheat easily. She could explain that he can only go on an air-conditioned school bus, and if the family goes on a plane, they have to check with the pilot to make sure the cabin temperature isn’t too warm. But she doesn’t really respond to those comments anymore—she feels like she shouldn’t have to.

Until about a year ago, Bryce rarely made eye contact with his parents. He would never have handed Bennett a book to read to him, the way he does now, or guided Jenna’s hands as she sang “The Wheels on the Bus.” As a baby, his muscle tone was so poor that he couldn’t sit on his own. His cute cooing sounds disappeared before his first birthday, and he couldn’t sleep, even at night, for more than an hour at a time. He was so delayed that a neurologist told Jenna and her husband, Dan, five years ago that their son would never walk, talk or amount to anything. They decided not to listen.

A sign on the wall of the office where Bryce goes for pediatric physical therapy reads: “Life is a series of thousands and thousands of tiny miracles.” Jenna takes Bryce to Early Intervention Associates in Rockville twice a week, before his school day starts, to work on balance, spatial orientation and sensory processing. When he started therapy there in 2012, he couldn’t stand still because his body always had to be moving. He didn’t follow instructions because he wasn’t able to process what people were saying. His feet curled and he couldn’t put them flat on the ground. Now he’s riding a two-wheel bicycle with training wheels. “Steering and everything,” Jenna says.

When people ask Jenna about Bryce, a first-grader at Germantown Elementary School who’s in a special education class for children with severe disabilities, she’ll often tell them he has autism. According to the Phelan-McDermid Syndrome Foundation, there are only about 1,200 known cases worldwide of PMS, which is listed in the National Organization for Rare Disorders’ database right between Pfeiffer syndrome and phenylketonuria, so most people have never heard of it. Many children with PMS, including Bryce, are also on the autism spectrum, which is one reason the syndrome is underdiagnosed, according to experts. Whenever he watches television, Bryce makes the same groaning noise, which his parents say is a form of “stimming” or self-stimulation. He likes to repeatedly open and close car doors.

According to the National Institutes of Health, there are more than 6,800 rare diseases—also known as “orphan diseases”—currently identified, affecting an estimated 25 million to 30 million Americans. PMS, also called 22q13.3 deletion syndrome, is caused by the loss of a small piece of chromosome 22. The severity of symptoms vary, but PMS is typically characterized by developmental delays, moderate to profound intellectual disability, sleep disorders, seizures, decreased muscle tone, high pain tolerance and absent or delayed speech.

Doctors never mentioned PMS to Bryce’s parents when they were trying to figure out what was wrong with him. Jenna read about the disorder online and became convinced that Bryce had it, but no one believed her. “The parents are really the experts,” says Dr. Katy Phelan, director of the cytogenetics laboratory and associate professor of pediatrics at Tulane University School of Medicine, who was one of the first to study the 22q13.3 deletion. “They’re the ones that teach the doctors about this condition.”

Dan, a senior sales executive for Massachusetts-based Sentinel Benefits & Financial Group, and Jenna, now a stay-at-home mom, moved to their Lakelands neighborhood from New Jersey in 2011, in part because they’d heard great things about the county’s Infants & Toddlers Program and the special education services at MCPS. They also liked the idea of being close to NIH, where Bryce is now part of a study involving 90 children with PMS. “NIH has done every test known to mankind,” Jenna says. “I had to fill out this 12-page survey about things he can do and things he can’t. You don’t think about it in your day-to-day life, but then you see it on paper: Can he do this? No. Can he do this? No. It’s hard to see that.”

Bryce’s older brother, Bennett, who often reads to him, says he wants to be a physical therapist when he grows up because he’s seen the way therapy has helped Bryce. Photos by Lisa Helfert.

Bryce can only say a few words clearly—“hi,” “yes,” “more” and “Cara,” the name of the physical therapist he adores. “He doesn’t say ‘Mom,’ but Cara he can say for hours,” Jenna says with a smile. “She’s always like, ‘I’m sorry.’ I’m like, ‘It’s OK—it’s a word!’ ” He finds other ways to communicate—if Jenna closes her eyes for a second, Bryce will gently lift her eyelids. If she’s on her iPad and he wants her attention, he’ll take it right out of her hand. “I really think he has a lot of comprehension that he just can’t express,” says Bryce’s grandmother, Barbara Seiden, who moved to Gaithersburg from New Jersey last year and now lives a few blocks away from him. “There’s a lot going on in that little boy’s head.”

Jenna and Dan can’t let Bryce out of their sight because he’ll try to unlock a door or grab a banana and start biting the peel. In ways, Jenna says, he’s like a 2-year-old in a 6-year-old’s body. He likes to take off his clothes and walk around naked, and if he has to pee, he might do it wherever he’s standing. He used to try to eat the top of his coat, so now he wears chewable coil necklaces. But he’s also starting to hit a ball off a tee—he lights up when people clap for him—and last year in kindergarten he learned how to push a cart in the grocery store and find certain items on the shelves. This summer he went on carnival rides with his mom, wearing a shirt with the words: Never Count Me Out.

“They have expectations for him beyond what anybody ever told them they should expect—honestly, I think that’s a good thing,” says Jessica Ditto, Bryce’s pediatric nurse practitioner at the Kennedy Krieger Institute in Baltimore. She met Bryce after other medical professionals had given his parents little to be optimistic about. During an appointment with Ditto last fall, Bryce sat on her lap and put his hands on her face to get her to look him in the eyes, something she’d never seen him do. “We don’t want to push kids too fast, in general, when they have developmental delays, but we don’t want to expect nothing from them, either.”

When Jenna took Bryce to a cardiologist for a routine exam—children with PMS can have heart problems—the doctor looked at her at the end of the appointment and said, “I’m sorry this is your life.”

“Don’t be,” she said. “He’s amazing.”

Soon after Dan and Jenna bought an adaptive bike for Bryce, his physical therapist suggested they try a regular two-wheeler.  “Let’s just see if he can do it,” she said. Now he rides all the time. Photo by Lisa Helfert.

Bryce’s father, Dan Goldblatt, made it out of the South Tower of the World Trade Center on 9/11 minutes before the building fell. His fund company had an office on the 33rd floor, and as he made his way down a stairwell after the first plane hit the North Tower, he heard an announcement that his building was secure and that everybody should return to their desks. He was on the ninth floor by then, and the elevators on that level didn’t go back to the 33rd floor, so he kept going. He could see the other building on fire, and then saw people jumping out of windows. He eventually found a way out and called his father in New Jersey.

“Can you call Jenna and tell her I’m OK?” he said. “I’m outside the building.” At the time, he and his girlfriend, Jenna Cohen, who’d met as camp counselors, were living together in Manhattan. Jenna was working as a child life specialist at The Bristol-Myers Squibb Children’s Hospital in New Jersey, helping families cope with the challenges of hospitalization, and could only be contacted via pager. Right after Dan’s father told Jenna that his son was safe and standing outside the South Tower, it collapsed. For seven hours, Jenna thought Dan was dead.

“I survived,” says Dan, now 43. “I wanted to do things like get engaged and get married.” He proposed to Jenna three months later, and they had their first child, Bennett, in 2006.

He was happy and healthy, an early talker who decided one day that he wanted to use the potty and taught himself how to do it.

Jenna got pregnant again when Bennett was 2, and she and Dan found out during the first ultrasound that something might be wrong with their baby. A doctor in New Jersey saw cysts on one of the developing baby’s kidneys. The couple went to see a specialist, and soon learned that their son had multicystic dysplastic kidney, a condition that results from the malformation of the kidneys during fetal development. Bryce’s left kidney was damaged, but the other was OK.

“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