Potential Magazine Winter 2022

potential A publication of Kennedy Krieger Institute Winter 2022

Violet’s Voice

Helping Violet communicate in her own unique way The Sky’s the Limit

Hailey’s journey from injury to graduation— and beyond

Super Tripp

He had so much fun, he didn’t want to leave!

Bennett Blazers Changing lives through adaptive sports

potential A publication of Kennedy Krieger Institute Winter 2022 Volume 22, No. 2 3

IN MY OWN WORDS Going Anywhere At Kennedy Krieger, Valerie received the rehabilitation and encouragement she needed to pursue her dreams of college, grad school and beyond.

Greetings From Our

President

FEATURES 5

The Sky’s the Limit A brain injury interrupted Hailey’s high school journey, but she didn’t let that stop her from graduating with the rest of her class on graduation day.

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Super Tripp Tripp had so much fun during his stay at Kennedy Krieger that he didn’t want to go home.

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Violet’s Voice A team of experts in neurological and therapeutic care is helping Violet, who has a rare disorder, enjoy life and communicate with others in her own unique way.

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RESEARCH FRONTIERS

Dear Friends, At Kennedy Krieger Institute, communication is an important part of our focus and care.

In this issue of Potential, you’ll read about Violet and how she and her family have been working with our Assistive Technology Clinic to find ways to help her communicate. Violet, like many of the children under our care, has a rare, progressive neurological condition that makes oral communication difficult. But there are many other ways to connect, and she’s learning them from our team! Technology plays an increasingly important role in providing a means of communication for kids like Violet.

A Priceless Hug, Years in the Making Rett syndrome research is giving kids and teens like Catalina new opportunities—like the possibility of being able to hug her grandparents.

Likewise, we’re always looking for novel ways to share news and information with you!

In July 2021, we began a podcast series called “Your Child’s Brain” in collaboration with Baltimore public media provider WYPR. Each month, my colleagues and I host a conversation about a topic related to children’s neurological development, care and education. This December’s podcast episode is about rare diseases—also called orphan diseases—and why it’s so difficult to secure funding for research to treat these disorders.

I’m joined by the Institute’s chief medical officer, Dr. Ali Fatemi, and our associate chief science officer, Dr. Erika Augustine.

These two brilliant physicians, scientists and leaders discuss their efforts to find cures, treatments and funding for life-threatening neurological diseases. We tackle difficult questions about how to provide families with hope while navigating the realities of their children’s serious illnesses. For them, and us, there is no time to waste. Children like Violet need our research and help today.

To access the podcast, visit KennedyKrieger.org/YCB or search for “Your Child’s Brain” on any podcast app. And please visit KennedyKrieger.org/Orphan if you’re interested in supporting our work to find cures and treatments for rare diseases.

Thank you so much for your support for our mission. We hope you enjoy the free podcast and your Potential magazine!

Wishing you and your family a very happy new year,

Bradley L. Schlaggar, MD, PhD President and CEO Kennedy Krieger Institute

On the cover: Violet shares a hug with her mom.

Read more on Page 8.

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PROGRAM SPOTLIGHT Changing Lives Through Sports Kids join the Bennett Blazers, Kennedy Krieger’s adaptive sports program for young athletes, to improve their motor skills. Many go on to compete in collegiate sports and the Paralympics.

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HOW IT WORKS Communication Tools Augmentative and alternative communication gives voice to individuals who are nonspeaking or minimally speaking, or who have unclear speech. Here’s how it works.

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NEWS AND EVENTS New Podcast, Neurodiversity Conference and More Here’s what’s been happening around Kennedy Krieger, and a preview of what’s to come.

POTENTIAL EDITOR

PROOFREADER

CREATIVE SERVICES MANAGER

PHOTOGRAPHY

CONTRIBUTING WRITERS

AVP MARKETING, PR AND COMMUNICATIONS

Laura Thornton Sarah Mooney Laura Farmer Valerie Piro DESIGNER

Tom Czajkowski

Nina K. Pettis Nahir Moreno Cortes and others Lisa Nickerson MEDIA INQUIRIES

Jessica Gregg

PUBLICATION INQUIRIES

443-923-7330 or TTY 443-923-2645

For appointments and referrals, visit KennedyKrieger.org/PatientCare or call 888-554-2080.

Potential is published by the Marketing and Communications Department of Kennedy Krieger Institute, 707 North Broadway, Baltimore, Maryland 21205. Kennedy Krieger Institute recognizes and respects the rights of employees, trainees, and patients and students, and their families. At Kennedy Krieger, we ground our care, services, training and research in treating others with respect and civility. We respect the cultural identity of every person. Kennedy Krieger does not discriminate against people based on, but not limited to, perceived or actual race, color, ethnicity, national origin, age, language spoken, accent, marital status, veteran or military status, immigration status, disability, religion, pregnancy status, sex, sexual orientation, or gender identity or expression. We strive for equitable care for all individuals for whom we provide services, training, education and research participation. We encourage employees, trainees, and patients and students, and their families, to become active partners in the services provided by asking questions, seeking resources and advocating for their needs.

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Visit KennedyKrieger.org/Potential for more remarkable stories, news and updates.

IN MY OWN WORDS

Going Anywhere At Kennedy Krieger, Valerie received the rehabilitation and encouragement she

By Valerie Piro needed to pursue her dreams of college, grad school and beyond.

I sustained a C7-level spinal cord injury in a motor vehicle accident as a junior in high school.

At the time, I had a growing list of colleges that I wanted to visit over the summer. The visits were no longer viable, due to my inpatient physical and occupational therapy schedules, but I still intended to apply to college. I had used my time in high school to become a competitive college applicant, and had dedicated my life to my studies and extracurriculars. I didn’t want to believe it was now for nothing, but I also didn’t know if I had to modify my list of colleges to accommodate my spinal cord injury.

After my injury, I went to a rehabilitation hospital that was close to home. The doctor who headed the pediatric floor entered my hospital room one day and saw that I was studying for the SAT, and promptly told me not to bother. She encouraged me to travel instead, believing that it would be a more productive use of my time. Her words went unheeded, and I took the SAT in that very hospital.

Five months into my inpatient rehabilitation, I transferred to Kennedy Krieger Institute’s International Center for Spinal Cord Injury. There, I pedaled for the first time on a functional electrical stimulation (FES) cycle. I spent more time in a standing frame and took my wheelchair on the Baltimore subway system for a day trip to the city’s Inner Harbor. I began to see a future in which I was independent, mobile and active.

My SAT scores came in while I was at Kennedy Krieger, and they were better than I could have expected. At the same time, I was struggling to learn how to self-catheterize. My right hand could barely grip the catheter, and so I tried to learn with my left hand, which had sustained less nerve damage.

My father asked the head nurse on my floor whether or not I would be able to go to college, or if the daily demands of a spinal cord injury would limit my options.

Her reply? “She can go anywhere.”

I returned to my list of colleges. After each day of physical therapy, I would go to my hospital room and work on my college search and start drafts of Common Application essays. I began to apply to schools in California, Missouri, Georgia, North Carolina, New York and Massachusetts. I finished my applications after I returned home from Kennedy Krieger, in the beginning of my senior year of high school. The following spring, I received acceptances to seven of the eight schools to which I had applied, including Harvard University.

“Truly, I could go anywhere.”

– Valerie Piro

It would take a gap year of physical therapy and catheterization practice before I felt fully prepared to start college, but I eventually left for Harvard with my FES cycle and standing frame in tow.

Since then, I’ve graduated from Harvard, the University of Cambridge and Harvard’s Graduate School of Education, and I am now the first wheelchairusing doctoral candidate in Princeton University’s Department of History.

Truly, I could go anywhere.

Visit KennedyKrieger.org/ICSCI to learn more about the International Center for Spinal Cord Injury.

Photo courtesy of Emma Dove, indie Bird Photo and Video.

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The Sky’s the Limit A brain injury interrupted Hailey’s high school journey, but she didn’t let that stop her from graduating with the rest of her class on graduation day.

By Laura Farmer

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A surge of applause erupted through

Understandably, seeing Hailey so unresponsive was very hard on her parents. Dan remembers the moment they saw a glimmer of hope that their daughter was returning to them.

ceremony last May. Two of her physical therapists supported her—one on either side. Her steps were halting, but determined, as she moved slowly, step by step, across the stage. As the school principal handed Hailey her diploma, the cheers swelled and Hailey’s joyful face beamed.

“Hailey and Heather were doing a sitting exercise, and Hailey had the 1,000-mile stare and wasn’t overly responsive to anything except pain,” Dan remembers. During the exercise, Heather put her hands on Hailey’s head and asked her questions only – ROBIN Hailey and her family knew the answers to. Heather felt the minuscule head movements Hailey was trying to make and translated them to “yes” or “no.” To Dan’s surprise, every answer was correct. “Dan was floored when it happened time and time again,” Robin recounts.

At that point, Dan realized, “Hailey was in there; she was just really locked in her body.”

the auditorium as hailey approached the stage at her Florida high school’s graduation

The journey to this celebratory moment was not easy.

A little over a year ago, Hailey was a typical high school junior.

She’d set her sights on earning an associate degree while still in high school, to put herself on the fast track to becoming an anesthesiologist. These dreams came to an abrupt halt when she suffered a brain aneurysm while she slept.

A series of surgeries addressed her brain’s bleeding and swelling. Because of the constant care Hailey needed, her family made sure someone was by her bedside, 24/7.

Eventually, her condition stabilized. But her parents, Robin and Dan, felt unprepared for the level of care Hailey would need after being discharged from acute care. Their search led them to Kennedy Krieger Institute, both for its reputation for helping patients with brain injuries, as well as its convenience—it was a direct flight from their home near Tampa to Baltimore’s airport, allowing them to tag-team care of Hailey and their other two children back home in Florida.

Robin and Dan were so relieved once Hailey was at Kennedy Krieger and receiving full-time care again. But their relief was short-lived: A few days later, her brain functioning started to deteriorate further, and she was transferred to The Johns Hopkins Hospital, just a few blocks away. Doctors determined Hailey’s brain was producing excess fluid and that she would need another surgery.

Slow but Steady Progress After several weeks of recovery at the Johns Hopkins Children’s Center, Hailey returned to Kennedy Krieger. Finally, she was ready for the Institute’s team of specialists to begin helping her recover the communication and motor skills she had lost due to her brain injury. Her interdisciplinary team included speechlanguage pathologist Dana Wanyo, physical therapist Heather McLean and occupational therapist Danielle Gilboy.

“Dana, Heather and Danielle were absolutely stunning,” Robin recalls. “Hailey was still extremely disabled when she was at Kennedy Krieger, but we were just floored by how good they were with her.”

Yet initial progress was slow, as Hailey’s brain continued to heal.

“When Hailey first came to us, she was pretty much dependent on us for all her mobility,” McLean says. “She needed full support for transitions, sitting, transfers and standing.”

“We were just floored by how good they were with her.”

“We felt it was proof that Hailey was in there—just really trapped,” Robin adds.

These glimmers of hope continued to build, as Hailey continued to heal. McLean helped her relearn how to activate the muscles in her legs and torso. Her communication improved, too.

“She started to show more expression,” Wanyo says. “She was able to smile at things that were funny, particularly with her parents and their family jokes. And she also was a little bit more consistent with answering yes-or-no questions.”

Meanwhile, Gilboy helped Hailey with daily living skills like eating and brushing her teeth, to help her function more independently once she got home.

“Progress was slow, but she made great gains overall during her inpatient stay,” Gilboy says. “For example, she went from requiring total assistance to get dressed, to being able to get her shirt on and off with very minimal assistance. She was such a hard worker and never gave up. When therapy became tough, she was always down for an arm wrestle—which she always won!—or a few licks from a lollipop to lighten the mood.”

The Journey Continues After two months of rehabilitation, Hailey’s Kennedy Krieger team determined she was ready for outpatient therapy back home in Florida, at the Child Development and Rehabilitation Center at Johns Hopkins All Children’s Hospital in St. Petersburg.

Hailey admits that physical therapy is hard, but that doesn’t change her determination to reach her next goal: walking unassisted. And after that? Attending college.

“Hailey is stubborn in all of the best ways,” Robin says. “She’s very strong-willed and works really hard. I think she’s going to make a really good recovery, which we weren’t sure she’d be able to do a year ago. After everything she’s been through, I feel like the sky is the limit!”

Her communication, too, was nearly nonexistent.

“Hailey didn’t really have a lot of responsiveness to her environment at first,” Wanyo says. “She didn’t turn her head if you called her name. She had no way to communicate. She couldn’t gesture or vocalize.”

Visit KennedyKrieger.org/Inpatient to learn more about the Institute’s inpatient rehabilitation hospital.

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Super Tripp Tripp had so much fun during his stay at Kennedy Krieger that he didn’t want to go home.

The night before her son’s surgery, Michele wondered if she and her husband, Larry, had made the right decision. “I was worried about putting him through an elective surgery,” followed by weeks of inpatient rehabilitation. “I was scared he’d be miserable and want to go home.”

Tripp, 5, was born nine weeks early. When he was 2, Michele and Larry noticed he was walking on his tip-toes, with his left foot turned inward. As the months went by, they noticed more: Tripp could walk and run, but couldn’t jump or hop, and stairs were challenging. His gait was uneven, and his balance wasn’t great.

“This place... is amazing.”

– Michele

In January of 2020, Tripp saw Dr. Alec Hoon, who directs Kennedy Krieger Institute’s Phelps Center for Cerebral Palsy and Neurodevelopmental Medicine. An MRI scan revealed a periventricular leukomalacia (PVL)—a brain injury associated with Tripp’s early birth. Dr. Hoon diagnosed Tripp with spastic diplegic cerebral palsy, a neurological disorder, with spasticity— or tightness—in Tripp’s legs. Later that year, Tripp began outpatient physical therapy at the Institute.

While researching her son’s diagnosis, Michele learned about a surgery called selective dorsal rhizotomy, or SDR, that could help alleviate the spasticity. In May of 2021, Michele, Larry and Tripp met with the Institute’s Spasticity Clinic to learn more.

Recovery would be lengthy: Tripp would need to lie flat on his back for the first three days after surgery, and would then need to learn how to walk with an even gait and his heels touching the floor with every step, through daily inpatient rehabilitation at Kennedy Krieger.

They decided to go for it. “We wanted to give Tripp the best possible chance of living his life to the fullest,” Michele says.

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‘Off and Rolling’

On March 29, 2022, at The Johns Hopkins Hospital, pediatric neurosurgeon Dr. Shenandoah Robinson made a small incision in Tripp’s lower back. After determining which nerve rootlets at the base of his spine were causing muscle tightness, she cut them. Tripp still had plenty of nerves running from the base of his spine to the tips of his toes to be able to move his legs, but without the tightness caused by the spasticity, his legs were very weak.

“He needed to build new strength in his legs and train his gait to be more symmetrical,” explains physical therapist Patricia Turlington.

Six days later, Tripp transferred to Kennedy Krieger, where his interdisciplinary care team eagerly awaited him. They fitted him for a special standing wheelchair, called a stander. With two big wheels on each side at the front, and two smaller wheels behind, it allowed Tripp to remain in a standing position for much of the day, building strength in his legs and torso.

“He was off and rolling,” Michele says. “He loved exploring in it.” While Michele met with Tripp’s new care team, Tripp got an in-person tour of the hospital he’d call home for the next month—and a glimpse at all the fun he’d have.

Fun-Filled Days

Tripp’s days at Kennedy Krieger were packed, with three hours of intense physical and occupational therapies every weekday, and half days on Saturdays.

“Tripp did amazingly well,” says Marianna Kogut, his inpatient physical therapist. “It’s important that after SDR surgery, kids relearn to walk the right way, so they don’t have an injury or further complications later on. The therapy can get a little boring, but Tripp made it fun.”

Tripp practiced walking with assistance, and then without. He loved being suspended in a harness over a treadmill—that way, he wouldn’t put more weight on his legs than they could handle, and Kogut could retrain his leg movements to improve the quality of his walking.

“I’m flying!” he’d call out. He also loved letter hunts: Kogut would hide letter magnets in the hallway for Tripp, an early and avid reader, to find. He’d wear his cape—in orange, his favorite color, and emblazoned with a large “T.” As he picked up strength and speed, the cape would billow out a little more.

“We called him ‘Super Tripp,’” says Danielle Gilboy, his inpatient occupational therapist. Tripp began most of his days with Gilboy, who turned getting dressed and toothbrushing into fun therapy sessions to help Tripp develop his motor skills.

“After SDR surgery, kids are with us for a while, which gives us a unique opportunity to offer more intensive services,” she explains.

Between therapy sessions, Tripp would visit the therapeutic recreation room, where he’d play games like UNO and balloon volleyball, draw and paint, and do other fun activities. Therapeutic recreation specialist Patrick Pare coordinated with Tripp’s therapists to offer activities that would support his rehabilitation goals. One evening, Pare organized a hide-and-seek game. Caught up in the excitement, Tripp wheeled himself into hiding places in his stander, not realizing he was also getting a hefty dose of therapy. For Easter, the therapeutic recreation team organized a glow-in-the-dark Easter egg hunt.

Another evening, Pare organized a mini-golf game. “We like to introduce patients to different leisure activities so when they leave us, they already know some fun activities they can take part in. We’re looking ahead to long-term goals and getting back to being a part of the community, and just being a kid.”

The Road Ahead

“Tripp had a blast at Kennedy Krieger,” never once asking to go home, Michele says. But after four weeks of fun and incredible progress, it was time to move on to the next stage of rehabilitation: six weeks of daily physical therapy with Turlington at the Institute’s Specialized Transition Program, a neurorehabilitation day hospital, followed by ongoing outpatient physical therapy.

Michele tried to break the news gently, but Tripp was deeply saddened.

“He actually cried when we were preparing to be discharged,” Michele says. “He didn’t want to leave.” Michele and Larry cheered Tripp up by reminding him of all the fun things that awaited him back home— playing with his dog, visiting with friends and returning to school.

Dr. Hoon credits Tripp’s tremendous improvement to both the integrated and personalized care Tripp received at the Institute, and to Michele and Larry, who “balance worry and apprehension with hope, love and determination, guiding Tripp to be his best,” Dr. Hoon says.

Michele has worked at Kennedy Krieger for the past 19 years, and had heard stories about how kids often don’t want to leave Kennedy Krieger, “but it’s hard to believe it until you see it,” she says. As director of special events for the Institute, Michele manages the Institute’s annual Festival of Trees and other major fundraising events. Her son’s experience at Kennedy Krieger has given new meaning to her work.

“I have a new outlook on the ways I want to get more involved in Kennedy Krieger,” she says. “This place, and the people here and the care they provide, is amazing.” – LT Visit KennedyKrieger.org/CP to learn more about the Institute’s Phelps Center for Cerebral Palsy and Neurodevelopmental Medicine.

Violet’s Voice

A team of experts in neurological and therapeutic care is helping Violet, who has a rare disorder, enjoy life and communicate with others in her own unique way.

The first thing you notice about Violet is her smile.

“It lights up the room,” says Dr. Ryan Gill, her pediatric neurologist at Kennedy Krieger Institute.

“Violet loves balloons, bubbles, balls, blowing raspberries and Cabbage Patch Kids dolls,” her mom, Inez, adds. “She laughs when she sees a new show that she likes. She has this condition, but she still enjoys her life, and she’s very content.”

Violet, 6, has TBCK syndrome, also known as TBCK-related encephalopathy. She’s the only Marylander known to have it.

Caused by a mutation of the TBCK gene, the syndrome was first described in 2015.

It can cause seizures, low muscle tone, respiratory and gastrointestinal issues, and developmental delays and regression.

Fewer than 50 people in the world have been diagnosed with the condition, which is more common in individuals of Caribbean descent than in the general population, explains Dr. Mahim Jain, a bone health specialist at Kennedy Krieger.

Violet wasn’t diagnosed until she was 2.

Until then, her parents kept searching for answers as to why their little girl struggled to meet her milestones. In 2018, they brought her to Kennedy Krieger for whole exome testing, one of the most extensive genetic tests available.

The biomarker for TBCK syndrome had recently been found, and testing revealed that Violet had the condition.

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A New Journey

Positive Energy

That was just the start of a new journey for Violet’s family. “It’s hard when you’re first learning about something your child has,” Inez says. Seizures, she was told, would begin soon, and could be severe. “When she had her first seizure, that was the scariest thing.”

To keep her bones strong, Violet uses a stander for about half an hour a day at school. It’s a device that allows her to stand—putting weight on her leg and hip bones—while she engages in classroom and learning activities. She also does physical therapy, both at school and at Kennedy Krieger, to stay strong and maintain the mobility that she has.

But at Kennedy Krieger, Violet’s parents found a care team for Violet with a wide breadth of expertise and an equal amount of care and concern for Violet and her family. “Every person Violet has come across at Kennedy Krieger is so genuine—it’s like we’re family.

They’re giving her the stepping stones she needs to experience and enjoy life.”

Violet sees Dr. Gill a few times a year. She monitors Violet’s seizures, and tweaks her antiseizure medications as needed. “Dr. Gill is amazing,” Inez says. “She lets me pick her brain all the time.” That’s important—since TBCK syndrome is such a newly described condition, there’s not a lot of information available on it yet. Anything that Inez has a question about, Dr. Gill looks into. Any concern Inez has, Dr. Gill takes very seriously.

Violet also meets once a year with Dr. Jain, and about every six months with Dorian Butler, a nurse practitioner for the Institute’s Bone Center. “Because Violet is not very mobile and has a history of osteoporosis, it’s important to monitor her bone health and ensure she’s doing things to keep her bones strong, even though she doesn’t walk,” Butler explains.

“I’m so happy she’s coming to our clinic now, when she’s young, so we can establish a baseline for her,” she adds.

“We want to monitor her bone health as she grows and minimize her risk for fractures.”

Violet also benefits from occupational therapy at Kennedy Krieger. “We work a lot on developmental fine motor skills,” such as picking up an object with one hand and putting it in the other hand, explains Rachel Cassidy, Violet’s occupational therapist. Cassidy is also helping Violet learn to feed herself by picking up a spoon and putting it in her mouth. “My goal with Violet is to make functional gains,” Cassidy says. “I want Violet to be as independent as possible.”

Many of Violet’s sessions with Cassidy take place in the Institute’s sensory gym, with swings, floor mats, bubble tubes and other equipment designed to activate the senses. Violet loves the room and always brings her smile to therapy. “When I meet her in the lobby to bring her back to the gym, she’s always very excited,” Cassidy says. “She has such a positive energy.”

Violet recently did outpatient oral motor therapy with speech-language pathologist Claire Warren of the Institute’s Speech and Language Department to determine the types of foods she can chew, given that her oral strength and oral motor skills aren’t very strong.

“We determined that Violet could continue with pureed foods and liquids, and that she could tolerate up to about 10 bites of more solid food on each side of her mouth per meal,” Warren says. During feeding sessions, Warren got a chance to see Violet’s spunky personality. “Working on chewing became an activity that Inez and Violet enjoyed doing together, with Inez finding new foods that Violet would like.”

“I’m so glad to have the team at Kennedy Krieger.

I don’t know what I’d do without them.”

– Inez

An Active Communicator While Violet is nonspeaking, she communicates through facial expressions, pointing and reaching. An evaluation last year by speech-language pathologist Mary Boyle indicated that Violet could use a communication system—pointing or looking at objects or pictures on cards or an iPad-like screen—to express herself. “She’s an active communicator. She engages with people, and will look at the person or thing she wants,” Boyle says.

“We have to watch her eyes, because her eyes are telling us what she is trying to communicate,” she adds. “If we’re waiting for a large motor or vocal response, we may miss so many interaction opportunities. And by missing them, they’re not reinforced, and without reinforcement, they get diminished.”

That reinforcement is also an opportunity for personal connection. “She’s asked for something and has been heard. We are attending to her in the ways in which she can communicate. Interaction builds communication,” Boyle explains.

Recently, Violet and Inez met with Alexis Tutor, a speech-language pathologist for Kennedy Krieger’s Assistive Technology Clinic, to start to put together a communication system for Violet that she can try out at home with her family. “Our biggest goal for Violet is to help her be as independent and communicating as possible,” Tutor says.

“While Violet doesn’t talk, I want her voice to still be heard,” Inez says.

Shortly after Violet’s diagnosis, Inez connected with the TBCK Foundation, which formed in 2018 to raise funds for research on TBCK syndrome, and to bring together families from around the world affected by the disorder. The foundation recently held its second in-person conference.

Being part of the group has helped Inez not feel so alone, as the parent of a child with a very rare disorder.

And, as the foundation has empowered her, she wants to help other families of children with TBCK syndrome.

She now serves on the foundation’s Parent Leadership Advisory Board, and is spreading the word about the importance of research and ongoing therapies—to give people with TBCK syndrome a voice in the world.

Inez is grateful that Kennedy Krieger is only an hour’s drive away from home. “I’m so glad to have the team at Kennedy Krieger. I don’t know what I’d do without them, or the TBCK Foundation. It was hard at first, learning about Violet’s diagnosis, but to see her thriving through it is amazing. Every little milestone, everything she does just makes me happy.” – LT Visit KennedyKrieger.org/SLD to learn more about the Institute’s Speech and Language Department.

Dr. Ryan Gill, Violet and Dr. Mahim Jain

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RESEARCH FRONTIERS

A Priceless Hug, Years in the Making Rett syndrome research is giving kids and teens like Catalina new opportunities—like the possibility of being able to hug her grandparents. By Laura Farmer In many ways, Catalina is a lot like other teenagers.

She loves Taylor Swift. She can be sassy, rolling her eyes at her mom one minute and teasing her brother the next. She recently attended her high school’s homecoming dance. But in other ways, behaving like a typical teen is hard for Catalina. That’s because she has Rett syndrome.

Rett syndrome is a rare genetic neurological and developmental disorder that affects the way a child’s brain develops, causing a progressive loss of motor and communication skills. It primarily affects girls and women, becoming apparent sometime between 6 months and a year old.

For people with Rett syndrome, a wide range of medical and therapeutic supports can help maintain existing skills. Catalina first came to Kennedy Krieger Institute to meet with a speech-language pathologist, who helped her improve her communication skills through an eye-gaze communication device. She also does physical therapy at the Institute with Dr. Jennifer Brashears, who has helped her sit and stand independently, and walk up and down stairs.

Maintaining existing skills is generally the goal. But Catalina, remarkably, has demonstrated that it’s possible for people with Rett syndrome to improve their

“She’s able to hug!”

– Dr. Jennifer Brashears

Dr. Constance Smith-Hicks

skills, which may be due, in part, to the research of pediatric neurologist Dr. Constance Smith-Hicks, director of Kennedy Krieger’s Center for Synaptic Disorders, a program that includes the Institute’s Rett Syndrome and Related Disorders Center of Excellence and SYNGAP1 Center of Excellence.

ADVANCES IN RETT RESEARCH

Under Dr. Smith-Hicks’ leadership, Kennedy Krieger has participated in significant studies and clinical trials, including a recent multiple-site clinical trial of a new investigational drug. “Although we know that Rett syndrome is caused by mutations in the MECP2 gene, identifying treatments that target the core features of Rett syndrome has been challenging,” Dr. Smith-Hicks says. “But having several new drugs at different stages in development makes for an exciting time in Rett syndrome research.”

Dr. Smith-Hicks has coauthored a study on QTc prolongation—when the heart takes longer than normal to recharge between beats—a possible cause of sudden death for people with Rett syndrome. She’s also collaborated with Dr. SakkuBai Naidu, a pediatric neurologist at Kennedy Krieger, on a clinical trial studying the effectiveness and safety of the drug dextromethorphan. Preliminary results suggest the drug may lessen core symptoms of Rett syndrome by increasing language reception and reducing seizures and behavioral hyperactivity. Other ongoing studies by researchers elsewhere look at how similar drugs may be used to treat Rett syndrome.

Significantly for Catalina, Rett syndrome research may have helped her gain one very important skill: the ability to hug.

“For a long time, Catalina held her hands and arms close to her chest,” Dr. Brashears says, speculating that “The combination of physical therapy and a treatment approach based on the latest research may have helped her better control her arm movements, so she’s able to hug! After not seeing her grandparents in two years, because of the pandemic, she was able to give them each a hug when she finally got to see them again.”

Philanthropy helps fund research on rare diseases like Rett syndrome. Visit KennedyKrieger.org/Give to learn more about giving to support this work.

KennedyKrieger.org/Potential

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PROGRAM SPOTLIGHT

Changing Lives Through

SPORTS Kids join the Bennett Blazers, Kennedy Krieger’s adaptive sports program for young athletes, to improve their motor skills. Many go on to compete in collegiate sports and the Paralympics.

Penelope, 10, loves racing. “My favorite part is feeling the wind blowing through my hair,” she says.

She’s good at it, too. Last July, she participated in Move United Junior Nationals, an annual multisport event organized by Move United for athletes with disabilities, 6 to 22 years old. Over the course of a week, she participated in 14 races—nine swimming and five track and field—taking home 14 medals, 13 of them gold.

Penelope is a member of the Bennett Blazers, Kennedy Krieger Institute’s adaptive sports program for young athletes with physical disabilities. She joined the program when she was 7 to supplement her physical therapy. Little did she know of the incredible opportunities and friendships that awaited her.

“When Penelope came here, her world changed,” says Gwena Herman, who started the Bennett Blazers program more than three decades ago with her husband, Gerry Herman. They continue running the program to this day. “She entered the gym and found that she wasn’t the only kid with canes or a wheelchair.

She was home.”

AN IMMEDIATE WELCOME

About a week after Penelope was born, her parents noticed that her legs were moving unusually—in a frog-like way. But doctors noted nothing of concern. Eight months later, her parents found her writhing in pain in her crib, and within a couple of weeks, she was paralyzed from the waist down. An MRI scan revealed a cancerous tumor growing in Penelope’s spinal canal, compressing her spinal cord. Surgery and chemotherapy got rid of the tumor, but the paralysis remained. That’s when Penelope came to Kennedy Krieger.

After a couple 0f years of twice-weekly activity-based restorative therapies at the Institute’s International Center for Spinal Cord Injury, Penelope was walking with the support of a walker. She kept up with her therapy, and within a few years, she was ready for a new challenge—sports.

“We were relatively new to the adaptive sports community, so I didn’t know how it would go,” says her mom, Heather. But they were welcomed immediately by the Bennett Blazers, and Penelope discovered her love for competitive sports.

“Gwena and Gerry are fantastic,” Heather says. “They don’t allow disability to be an excuse for not performing at one’s best. They hold the kids accountable. It’s very empowering.”

Penelope, 10, has won numerous medals while competing for the Bennett Blazers.

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Photo courtesy of sportsnspokes.com.

AN INCREDIBLE OPPORTUNITY

The Hermans started the Bennett Blazers, named after a former Kennedy Krieger physician, with just a few athletes.

Initially, they worked with children ages 6 and up, teaching them a wide variety of adaptive sports, including basketball, soccer, swimming, tennis, and track and field. They quickly expanded the program to include children as young as 2, and added a motor skills development class to meet the needs of very young children. Today, the program serves 60 to 100 athletes ages 2 to 18 with physical disabilities each week.

Bennett Blazers athletes compete across the country, and many go on to the collegiate level, where there’s a growing demand for athletes for competitive parasports teams, and the Paralympics. “When we go to junior national championships, the college coaches are there, watching the kids with an eye toward recruitment,” Gwena says.

The Hermans run the program with help from parent volunteers and alums, who mentor up-and-coming athletes like Penelope. Recently, Penelope got to meet Tatyana McFadden, a Bennett Blazers alum, six-time Paralympian and champion marathoner. “I was a little scared because there was a celebrity with us,” Penelope says. “I tried to keep a straight face, but I was so hyped up to meet her!”

“The athletes are awesome, and the community and coaching are like no other.

It’s an honor and a privilege for us to be a part of the team.” – Heather

A COMMUNITY LIKE NO OTHER

Penelope loves being part of the Bennett Blazers. “It’s really fun, and I’ve made a lot of friends,” she says. And she likes being around kids like her. “In school, people stare at me,” walking with canes.

“But at Bennett Blazers, everyone is like me, and it’s not an issue.”

When Penelope grows up, she wants to be a professional athlete. She trains year-round with the Blazers, swimming, doing track, and playing wheelchair basketball, lacrosse, softball and tennis. She also works out at home, practicing basketball and other sports in her driveway.

“Gerry and Gwena push me to be the best that I can be,” she says.

“They say: ‘We’re here to work hard and try our best.’ And if we lose, they don’t say: ‘We lost.’ They say: ‘We learn.’”

While the program is competitive, its focus isn’t on medals and trophies, but on using adaptive approaches so each child can make sports, including competitive sports, a part of their lives.

“The kids and their families are genuinely a community where everyone looks out for each other,” Heather adds. “Everyone helps each other out. It’s unlike anything I’ve ever seen. The athletes are awesome, and the community and coaching are like no other. It’s an honor and a privilege for us to be part of the team.”

Heather credits the Blazers for helping her family move on from the trauma of Penelope’s diagnosis, surgery and partial paralysis.

“They’ve helped us shift from just barely surviving and barely keeping it together, to thriving.”

Now that Penelope has been with the Bennett Blazers for a few years, she’s starting to take her place as one of the older kids, helping and encouraging younger teammates at practice.

To anyone thinking of trying something new and challenging, Penelope advises: “Just give it a try. If you don’t like it, you can try something else. If you like it, do your best to get better.” – LT Email Gwena Herman at HermanGw@KennedyKrieger.org for more information about the Bennett Blazers.

Gwena Herman (center) with Blazers athlete Landon Brown (left) and Blazers alum and Paralympian Daniel Romanchuk

Photo courtesy of sportsnspokes.com.

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HOW IT WORKS

Communication Tools Augmentative and alternative communication gives voice to individuals who are nonspeaking or minimally speaking, or who have unclear speech. Here’s how it works.

Think about the last time you asked someone a question. Maybe you asked if they wanted to meet for lunch, or where the nearest gas station is. Imagine trying to ask that question without speaking.

For individuals who are nonspeaking, have unclear speech or use minimal speech, communication can be difficult. Writing can be cumbersome for those with motor difficulties, and nonverbal forms of communication—gesturing, facial expressions, body language—aren’t always precise.

That’s where augmentative and alternative communication (AAC) can help.

Some forms of AAC—including pointing and looking at people, things, words and pictures—use no technology at all. Other forms use the latest communication technologies: apps for smartphones, iPads, and tablet and personal computers, and separate AAC devices designed specifically to help people communicate.

“AAC devices and apps are tools that improve daily communication for someone who is unable to communicate fully using natural methods,” explains speech-language pathologist Lauren Tooley, who manages the Institute’s Assistive Technology Clinic. “Using an AAC device or app allows someone to communicate whatever they want, when they want. They can request, comment, reject—it allows for all kinds of different intentions.”

Evaluation Is Necessary

AAC devices and apps run the gamut, from simple to complex. Some use pictures or icons, with the user selecting a picture or icon of what they want the AAC device or app to say aloud for them. Other devices and apps use words, or a combination of words, pictures and icons. Many also include common phrases, such as “How are you?” and “I need a break.”

An evaluation with a speech-language pathologist is necessary to determine which form of AAC is best for someone who is nonspeaking or minimally speaking.

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At Kennedy Krieger’s Assistive Technology Clinic, speech-language pathologists work with individuals who are nonspeaking or minimally speaking—and often with their families as well—to match each individual’s communication needs and motor abilities with the right form of AAC for them. For example, individuals with motor difficulties may find touching buttons on a screen too arduous or time-consuming, but may benefit from an eye gaze-tracking device, which tracks where their eyes look on a screen, and says aloud whatever word, phrase, picture or icon they’re looking at.

Once an AAC device or app has been selected, the speech-language therapist will work with the individual and their family to preprogram additional useful words or phrases in the device. A football fan may want “Touchdown!” added to their device. Chess players will want “Checkmate!” to be among their phrases.

“Our assistive technology clinicians customize the device and figure out what vocabulary the child needs, including how much vocabulary makes sense for them right now,” explains Dr. Katheryn Boada, Kennedy Krieger’s director of speech-language pathology and assistive technology.

AAC devices and apps use various strategies for displaying words, pictures and icons on a screen, often in different categories, to take advantage of users’ strengths in language, organization and picture discrimination skills.

Speech-language pathologists determine the best format for each user.

Once someone is fluent in using their AAC device, “It’s pretty amazing,” Tooley says.

“Now that they have control over their communication, they can tell people what they want and how they feel.” Their behavior and interaction style may even change, as they get used to knowing what it’s like to be able to direct their daily needs and engage in spontaneous conversation.

“Sometimes, family members can get a little teary-eyed,” she adds, “especially when their child uses the device to say ‘I love you!’ for the first time.” – LT Visit KennedyKrieger.org/ATC to learn more about the Institute’s Assistive Technology Clinic.

“Using AAC allows someone to communicate whatever they want, when they want.”

– Lauren Tooley

Jack, a student and patient at Kennedy Krieger, uses an AAC device to communicate with his teacher, Jessica Berry.

NEWS & EVENTS

Kennedy Krieger Institute’s events are a great way to bring family and community members together! Visit KennedyKrieger.org/Events to explore all the exciting things happening, and to support our work.

Please note: Current infection control protocols will be followed for all Institute events, and if necessary, event format changes will be made.

TOP DOCS AND MORE Baltimore Magazine included three Kennedy Krieger doctors in its 2022 Top Doctors list: • Dr. Doris Leung, director of the Institute’s Center for Genetic Muscle Disorders • Dr. Carmen Lopez-Arvizu, director of the Institute’s Psychiatric Mental Health Program • Dr. Michelle Melicosta, director of the Institute’s Pediatric Comprehensive Neurorehabilitation Unit The Maryland Daily Record honored Dr. Bradley L. Schlaggar as one of its 2022 Most Admired CEOs of Maryland.

And Kennedy Krieger is one of 12 recipients of the 2022 Mayor’s Business Recognition Awards, which honor organizations that have demonstrated significant leadership and service to improve quality of life in Baltimore. Recipients are chosen by the Greater Baltimore Committee and the Baltimore Development Corporation.

NEW EPISODES EVERY MONTH Kennedy Krieger’s monthly podcast series, “Your Child’s Brain,” brings together experts in child brain health, including researchers, educators, physicians and therapists, as well as families, to discuss contemporary topics about child and youth brain health and development. Recent topics include concussion and brain injury, adaptive sports, long COVID-19 in children, and orphan diseases.

Visit KennedyKrieger.org/YCB to check out our entire podcast library.

SAVE THE DATE

MARCH 22–24, 2023 | WASHINGTON, D.C.

KENNEDY KRIEGER IN THE NEWS

Baltimore INJURED OFFICER TO COMPETE IN HAND CYCLING PORTION OF BALTIMORE RUNNING FESTIVAL

(10/14/22)

Visit KennedyKrieger.org/NBC101422 to watch the story.

WHAT’S A CONCUSSION?

(10/4/22)

Visit KennedyKrieger.org/TWP10422 to find out.

WITH HELP FROM MARYLAND FAMILIES, SCIENTISTS FIND OVERLOOKED GENES FOR AUTISM

(9/6/22)

Visit KennedyKrieger.org/TBS92622 to learn more.

Visit KennedyKrieger.org/News for more news from the Institute.

Neurodiversity in the Workplace: A Collaborative National Conference Join us for our first national conference on neurodiversity in the workplace! Attendees will learn from expert presenters and engage in discussions on using diverse and inclusive employment practices to build a dynamic workforce, enhance the workplace and help ensure equal access to employment. Be part of a network of changemakers who are creating opportunity and helping each person pursue all that’s possible! Visit KennedyKrieger.org/NDW23 for more information.

Join us on social media! Visit: KennedyKrieger.org/Connect

Join our year-end giving campaign!

Help us continue to lead the way to cures and care for patients and students at Kennedy Krieger!

Connect your company’s brand, and your staff, with helping Kennedy Krieger and the kids we serve. Visit KennedyKrieger.org/Corporate to learn more.

Help our patients and students by becoming a monthly donor. Visit KennedyKrieger.org/Monthly to learn more and sign up.

Include Kennedy Krieger in your estate and charitable gift plans. Leave a legacy to reflect the values you want to express and pass down to future generations. Visit KennedyKrieger.org/PlannedGiving to learn more.

Or give through a donor-advised fund. Donate the amount you want, when you want to give it, in a way that is tax-advantageous to you.

Visit KennedyKrieger.org/DonorAdvised for more information.

KennedyKrieger.org/Potential

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NON-PROFIT U.S. POSTAGE

PAID

PERMIT #7157 BALTIMORE MD

707 North Broadway Baltimore, Maryland 21205

Your support helps amazing patients like Violet.

When you give to Kennedy Krieger Institute, you’re helping us pursue every possibility—and beyond—for children like Violet. Your gift supports groundbreaking education, research and care that bring hope and transform lives.

Thank you so much!

Make your donation today! Visit us online at KennedyKrieger.org/PW22 or use the QR code to the right, or mail us your donation using the return envelope inside this issue.

The individualized care that Violet, 6, receives at Kennedy Krieger allows her to learn, play, grow and thrive. Read Violet’s story on Page 8.

Giving to Kennedy Krieger WHY I G IVE “Before Cordelia’s birth and diagnosis, I had heard of Down syndrome, but I didn’t know much about it. Now, I fundraise directly for the Down Syndrome Clinic and Research Center at Kennedy Krieger Institute, partly because of how much it’s helped Cordelia, but also because I want to make a difference for the Down syndrome community. I want to spread awareness about Down syndrome and what it is, and that having Down syndrome or a different disability does not define a person.”

– Angela White, organizer of DS Can’t Bowl Me Down,

a bowl-a-thon to support Kennedy Krieger’s Down Syndrome Clinic and Research Center

Angela with daughter Cordelia