Living With a Rare Genetic Disorder
Despite the challenges, a Gaithersburg boy moves ahead
Six-year-old Bryce Goldblatt wasn’t expected to walk. Now he’s doing that and more. Photos 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.