PUBS: "Potential" Magazine Fall Issue (v12 #2)

potential A publication of Kennedy Krieger Institute

Bringing Back

Matthew

A father and son’s story

A New Life, Half a World Away A mother’s journey to save her son

More Than Just Fun and Games

The unlikely role of video games in neurorehabilitation

We are all born with great

potential

shouldn’t we all have the chance to achieve it?

A publication of Kennedy Krieger Institute Volume 12/Number 2

INSPIRING POTENTIAL Getting Her Voice... Again: Suzanne Prestwich, MD, helps a patient recover from a respiratory condition and learn to ‘sing’ again.

Letter from our

President At Kennedy Krieger Institute, we are inspired every day by children and adolescents who have the will to succeed, despite seemingly insurmountable circumstances. When 12-year-old Matthew Slattery emerged from a coma after a horrific car accident that left him with a traumatic brain injury, he could barely lift his finger. Through hard work with his therapists, the love and support of his family, and sheer determination, today, Matthew can talk and laugh again, and participate in many of the activities he’s always loved, from biking, to Boy Scouts, to camping.

Across the globe, a little boy in Africa was born with a developmental disability that neighbors believed was a bad omen for their people. His mother’s quest to find him treatment and a better life led her to Kennedy Krieger, where she found therapy for her son and help in seeking asylum.

Parents who come to Kennedy Krieger are the ones who refuse to accept hearing others say, “I’m sorry, there is nothing more we can do.” There is always something more we can do, whether that means finding ways to bring a child back after a brain injury, providing physical and occupational therapy to help a child with a developmental disability, or in the case of 6-year-old Maci Janiski who recovered from a seizure, using video games to turn the hard work of neurorehabilitation into fun.

Also in this issue: 18-year-old John Manison isn’t letting paralysis stop him from pursuing his athletic dreams. Aside from being a nationally ranked competitive swimmer, he ran in the Baltimore Marathon with the help of braces and canes.

Some may call them miracles, but it is really a combination of children and adolescents who are determined to work hard, families who do everything possible to help them, and employees who give their all to help patients and students unlock their potential.

Sincerely,

Gary W. Goldstein, MD

FEATURES A New Life, Half a World Away: Ostracized by her own people because of her son’s developmental disabilities, a mother’s journey to save her son leads her from Africa to Kennedy Krieger and its affiliate PACT.

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More Than Just Fun and Games: The unlikely role of video games in neurorehabilitation.

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Bringing Back Matthew: After surviving a horrific car crash, Matthew Slattery defied expectations in his recovery from traumatic brain injury.

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Program Spotlight

RESEARCH Frontiers

Infant Head Lag May Raise a Red Flag for Autism

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IN MY Own Words

John Manison, Patient at the Institute’s Spinal Cord Injury Program: “You can do whatever you want, as long as you put your mind to it.”

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News briefs & Events

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potential Editor: Kristina Rolfes Contributing Writers: Martie Callaghan, Lauren Glenn Manfuso, and Suzanne Prestwich, MD Graphic Designers: Emily Lee and Amy Mallik Creative Services Coordinator: Sarah Mooney AVP of Marketing and PR: Bryan Stark Media Inquiries: Elise Babbitt-Welker Publication Inquiries: 443-923-7330 or TTY 443-923-2645 Patient Referrals: 888-554-2080; kennedykrieger.org potential is published by the Marketing and Public Relations Department of the Kennedy Krieger Institute,

707 North Broadway, Baltimore, Maryland, 21205. Kennedy Krieger Institute recognizes and respects the rights of patients and their families and treats them with courtesy and dignity. Care is provided in a manner that preserves cultural, psychosocial, spiritual and personal values, beliefs, and preferences. We encourage patients and families to become active partners in their care by asking questions, requesting resources, and advocating for the services and support they need.

To learn more, get involved, and stay connected, visit kennedykrieger.org/connect.

Photography by Steve Parke

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Bringing it all Home for Patients with Tuberous Sclerosis

To view this issue and past issues online, visit potentialmag.kennedykrieger.org.

On the cover: Matthew Slattery biking with his father, Ed Slattery.

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Inspiring potential

Inspiring stories from the staff of Kennedy Krieger Institute

Getting Her Voice... Again

Many of the children admitted to the inpatient rehabilitation unit at Kennedy Krieger have experienced a trauma or illness that resulted in needing a procedure called a tracheostomy. The procedure involves placing a tube in a patient’s neck to help with breathing, but the downside is that it robs the patient of the ability to speak. Seeing a child with a “trach” tube in place may be heartbreaking for the casual observer. Seeing your own child with it is devastating.

As a mom, it is hard to imagine my boys without the ability to speak.

Not hearing their voices greet me or say, “I love you, Mommy” would be unbearable. I am inspired by parents who learn to live with this loss.

However, many of our patients are able to recover and ultimately get their tracheostomy tubes removed.

I should probably tell you that I am a huge Disney fan. And every time I encounter a child who’s undergone a tracheostomy, I’m reminded of one of my favorite Disney characters, Ariel, from “The Little Mermaid.” When her voice was stolen from her by an evil witch, it was only through the miracle of love that she recovered the ability to speak and sing.

For kids with a tracheostomy, though, it takes much more than a kiss to restore their voices. The first step in the process is the placement of a speaking valve.

And, even without the kisses and fireworks, the first time that valve is placed is an emotional experience. covered er, who re b E h ra a ld S me 17-year-o ss Syndro ry Distre Respirato

te from Acu

One of my patients, Sarah Eber, was a typical bubbly teen until she had a severe illness called Acute Respiratory Distress Syndrome (ARDS). ARDS is a life-threatening condition in which an infection causes an inflammatory response that can destroy lung tissue. Many do not survive ARDS, especially older people. Luckily, Sarah was young and healthy before she ended up in the ICU on a machine that was breathing for her.

Thankfully, Sarah survived ARDS. She was left weak and required a ventilator to help her breathe when she became my patient on Kennedy Krieger’s inpatient rehabilitation unit. During her time with us, she grew stronger and stronger. She eventually recovered enough to breathe on her own and started using a speaking valve. Once she could speak again, Sarah’s true spirit and personality were able to shine. I will never forget Sarah’s smiling face as she used her voice for the first time in months.

It was beautiful.

I remember watching Sarah call her parents for the first time with her speaking valve. She was beaming. I can only imagine how relieved her mother and father were to hear their girl again.

Their joy was evident on their faces when they saw her in person following that special phone call.

Of course, for our patients, the process of recovering their speech and voices isn’t as quick as for Ariel.

It takes time and practice and therapy. But just like Ariel, our kids face enormous challenges to return to health and ‘sing’ again. And just like Ariel, their emotional triumphs seem made for the big screen. n by Suzanne Prestwich, MD

potential

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A new life, half

Ostracized by her own people because of her son’s developmental disabilities, a mother’s journey to save her son leads her from Africa to Kennedy Krieger and its affiliate PACT. In rural Africa, where 3-year-old Fabian Ndungu Githinji was born, his mother Maureen could feel the eyes of her neighbors on her when she held Fabian, and hear their whispers behind her back. It was obvious that Fabian was different, with his abnormally large head and delayed development. In her culture, many still believed that children with developmental disabilities were a bad omen or a curse. Their stares said it all: “Those are the kind of children she makes,” and knowing that Maureen had previously had a daughter who died of cancer added more support to their paranoia. Maureen and her family—her husband Patrick, daughter Francisca, and Fabian—lived in a constant state of fear and were ostracized by their own people. Even in this modern age, it is not unheard-of for children with developmental disabilities to be abandoned, chained, or even drowned in Africa. Maureen and Patrick began to fear for their son’s life.

Maureen took Fabian to a local doctor and was eventually referred to the best hospital in Africa, where he was diagnosed with Dandy Walker syndrome—a congenital brain malformation—in addition to hydrocephaly and cerebral palsy.

The doctor’s prognosis was grim: Fabian would have severe cognitive and physical limitations, and his head would continue to swell and would eventually shut down his brain. The doctor told Maureen to go home and accept Fabian as he was—there was nothing he could do.

Hope Through a Cyber Café

Maureen refused to accept that there was no hope for her son. She knew she had to try to find him help. Every day she 2 potentialmag.kennedykrieger.org

walked from her family’s farm to a cyber café in the nearby village to research treatment options for Fabian. She searched online for “best pediatric neurosurgeon in the world,” and found the name of renowned neurosurgeon Ben Carson. She wrote to Dr. Carson and sent Fabian’s medical history, and heard back the words she had been hoping for: “We can help your son.”

The family received assistance that helped pay for plane tickets for Maureen and Fabian to fly to Baltimore. When she got on the plane, she didn’t know if she would ever see her daughter or husband again, but she knew she had to try to save Fabian’s life.

When they arrived in Baltimore, they had little more than the clothes on their backs, but Maureen was driven by the quest to find treatment for her son. She took Fabian for a comprehensive initial evaluation with doctors from Johns Hopkins neurosurgery and Kennedy Krieger neurology and orthopaedics, where she learned that occupational, physical, and speech therapy would help Fabian’s developmental delays.

But the most powerful moment came when Kennedy Krieger attending orthopaedic surgeon Charles E. Silberstein, MD, told her what she had always hoped to hear—that her son would one day walk.

Fabian underwent brain surgery to treat his hydrocephalus, and the surgery was a success—but he still needed therapy, and the family had no money, no insurance, and no place to live.

Maureen feared being sent back to Africa, where Fabian’s life could be in danger and he wouldn’t have access to the therapies he desperately needed.

a world away ”I never imagined this could happen.

We came to this country with no family, but now through Kennedy Krieger and PACT, we have a very large extended family.”

—Maureen Wanjiru Kimani

With the help of Kennedy Krieger, Fabian, his parents Patrick and Maureen, and his sister Francisca have been granted asylum to stay in the U.S. so Fabian can continue his treatment.

It Takes a Village

Along the way, Maureen told her story to child life specialist Anna Hernandez, who began reaching out to resources within the Institute on Maureen’s behalf. Anna introduced the family to Alexander Hoon Jr., MD, who agreed to see Fabian at the Institute’s Phelps Center for Cerebral Palsy and Neurodevelopmental Medicine despite the family’s limited financial resources. Dr. Hoon was so moved by Maureen’s story that he connected Maureen with his personal attorney.

Anna and Dr. Hoon also called the Institute’s director of social work, Mary Snyder-Vogel, who along with her team facilitated dozens of contacts to help secure legal representation for Maureen through the Immigrant Rights Clinic at the University of Baltimore School of Law. Dr. Hoon wrote an affidavit for Maureen to request asylum so that Fabian could stay in the country and receive the treatment he needed. Within months, Maureen’s husband, Patrick, and her daughter, Francisca, came to the United States, and the family was reunited.

As Fabian continued to improve, the family was connected to the Institute’s affiliate PACT—the only program in Central Maryland that offers specialized child care for children with complex medical needs, as well as support for families. There, Fabian received the critical child care his parents needed, in addition to occupational and physical therapy. “We look at children holistically and provide a really rich environment for them,” says social worker Mary Coster.

When Maureen shared her story, Mary sprang into action, helping them find a place to live and securing donations from PACT, Institute employees, and their extended family and

friends for needed items, including furniture, food, clothes, toys, beds, a computer—everything they needed to make a home.

“I can’t even describe it,” says Maureen. “Having strangers care—people who don’t even know you reaching out to help— it means so much. I never knew strangers could be so kind, loving, and caring.”

Daring to Dream

Indeed, 3-year-old Fabian seems to be thriving. He grins widely as he tries to take a few tentative steps from his mother, Maureen, to Mary, who hugs Fabian, while his mother, father, and sister clap and cheer. Other children his age are running and climbing, but for Fabian, learning to walk will be a new accomplishment. He is a remarkably happy child, given all that he’s endured. According to his mother, he spends hours smiling and “talking” to himself in the mirror. “Fabian is a joyous child,” says Mary. “He’s so full of life.”

In June, the family received official notification from the Department of Homeland Security that they were granted asylum to stay in the U.S. They are now eligible to work and receive medical coverage for Fabian’s care so that he can get the therapy and equipment he needs to continue his progress.

For Maureen, knowing that Fabian will be safe from harm, receive the therapies he needs, and grow up in a society that values him is more than she ever dreamed possible.

“I never imagined this could happen,” she says. “We came to this country with no family, but now through Kennedy Krieger and PACT, we have a very large extended family.” n by Kristina Rolfes potential 3

More than just fun and games

The unlikely r ole of video g ames in Neuro rehabilitation .

Tell a kid to do three repetitions of 15 pushups or 25 leg lifts or any of the other myriad exercises that physical therapists assign during a regular session, and the automatic response might be a roll of the eyes and a groan before relenting—only to tucker out and lose focus or motivation before it’s over. But hand this same kid a Nintendo Wii video game controller and tell him to play a game of basketball or a few innings of baseball, or—in the case of 6-year-old patient Maci Janiski—a round of Just Dance, and suddenly 200 repetitions are no problem.

For kids who may need up to six or seven hours of therapy a day, keeping therapy fun and motivating can be key to successful rehabilitation, because as every parent knows, if kids don’t want to do something, even if it’s good for them, they won’t. But offer a reward and make it fun, and suddenly you will see boundless enthusiasm, which is exactly what happened with Maci.

The trouble with Maci started one morning in May 2011.

She’d gone to bed seemingly healthy and had never had any major illnesses or injuries. But when she woke up the next morning with an extremely swollen face, her mother, Ronda Janiski, took her straight to the hospital, where she was diagnosed with nephrotic syndrome, a condition affecting the kidneys with symptoms that include protein in the urine, low blood protein levels, high cholesterol levels, high triglyceride levels, and swelling. In most cases, the condition is not debilitating. But Maci had a bad reaction when doctors tried to wean her off a regimen of steroid medications initially prescribed to stabilize her condition. In addition to vomiting and diarrhea, she developed severe edema and could barely move. On August 27, 2011, she had a seizure and stopped breathing. She spent the next two weeks attached to a ventilator and couldn’t sit up on her own, walk, or stand.

Turning Hard Work Into Fun After a 28-day hospital stay, she was discharged and referred to the Specialized Transition Program at Kennedy Krieger, a program for patients who no longer need acute care but still need intense therapy before transitioning back home.

She began outpatient physical therapy for several hours a day. Her sessions included the mainstays—balance, strength training, and endurance exercises, for instance—but sometimes she would get tired and give up. So Maci’s therapists, who knew she had loved dance classes and video games before her illness, introduced her to the Wii game Just Dance, which she loved best of all.

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Physical therapist Erin Naber tailors activities to the interests of patients like Maci, who enjoys Wii games.

“When Maci was playing the Wii and earning points and getting rewards, she was much more motivated,” says Ronda. “I don’t think she even realizes that it’s helping her get better. She just sees it as fun.”

For many, video games and therapy are hardly synonymous. “There are definitely people who just see kids playing video games and think, ‘How is this hard work?’” says physical therapist Erin Naber, PT, DPT, who worked with Maci. “But for these kids, even though it’s fun, it really is work.”

ld mes, she wou ti e v fi d n ta s and aci had to sit M if , y as playing the p w ra e e h th s g n e n h ri u w “D ut ore and give up, b d re ti t e e was much m g h s s e s, rd a w re sometim g ints and gettin ing her get o lp p e g h in ’s it rn t a a e d th zes Wii an she even reali k in th ci’s mother ’t a n o M d i, I k . is d n te a Ja v a moti ond as fun.” — R it s e e s t s ju better. She At Kennedy Krieger, where behavioral therapists work side by side with occupational and physical therapists, incorporating video games into therapy was a natural fit— finding out what motivates a child and adding that to therapy is what therapists do every day. “Patients get excited, and as a result, you see a better performance from them,” says Kennedy Krieger occupational therapist Scott Frampton, MS OTR/L, CPST.

Targeted Therapy With a Twist Video games with motion-sensing systems like the Nintendo Wii and the Xbox Kinect offer games that require a lot of physical involvement, dexterity, and exertion, which can improve endurance for patients like Maci who have the capability for a wide range of motion.

Video games may be even more beneficial for patients with damage to the brain. For these patients, who may have significantly reduced strength, endurance, or cognitive abilities, even the simplest tasks—like holding a pencil or a remote and manipulating buttons and switches—can prove challenging.

Researchers know that neuroplasticity—a process of brain repair in which the neurons in the brain begin forming new connections to replace the damaged ones—can be fostered through repetition, provision of feedback, and motivation.

Video games provide all of these elements, making it an ideal supplement to therapy. When kids can see a cause and effect from pushing a button or they see their scores improving, they are motivated to try again, and with every repetition comes progress. A recent study found that children with cerebral palsy may benefit from the use of video games, and another study found that video games and virtual reality can help improve motor function in patients who have suffered a stroke.

Eight-year-old patient Connor Fox uses a robotic device with built-in video games during rehabilitation therapy.

For patients who need more targeted therapy for specific joints or movements, the Institute has scores of rehabilitation equipment that incorporates video game technology.

Therapists use robotic devices with built-in video games, such as the MediTouch HandTutor™ and LegTutor™, to help elicit movement while tracking the patient’s progress. With the Armeo®Boom and Armeo®Spring, patients can activate video games to improve motor control of arms and hands.

The Institute even uses a virtual reality–based therapeutic training system—Myomo®—that encourages brain-injured patients with upper limb motor disorders to practice physical exercises.

“One of the benefits of using video game technology is that we can incorporate different adaptations based on desired motor movements and the patient’s abilities,” says Frampton. “As a result, we can gear the game experience toward helping the patients achieve more function. We may target certain areas and be able to tell which muscles they’re using for certain movements. And because they’re more motivated, we see more effort.”

From iPads to GameCycles to Lumosity—an internetbased cognitive training program used to improve cognitive impairment—everywhere you look you can see an example of innovative rehabilitative technology at Kennedy Krieger.

And it’s not hard to find a rehabilitation patient or parent who attributes their good outcomes at least in part to the incorporation of video game technology into their regular sessions.

It certainly paid off for Maci, who less than six months after her therapy began, grew fully capable of running and playing with other kids. n by Lauren Glenn Manfuso

potential 5

Bringing

BackMatthew

After surviving a horrific car crash, Matthew Slattery defied expectations in his recovery from traumatic brain injury.

In an instant, the Slattery family was shattered.

Susan Slattery and her two sons, Matthew and Peter, were on their way home from visiting family in Ohio on a sunny August day in 2010 when tragedy struck. A truck driver fell asleep at the wheel, barreling into Susan Slattery’s car and pushing it under a tractor trailer, killing her and critically injuring 12-year-old Matthew and 16-year-old Peter.

Peter fractured his pelvis and eye socket, while Matthew suffered a severe traumatic brain injury, losing 80 percent of his blood.

Matthew’s father, Ed Slattery, was at work when he received the unimaginable phone call. Ed raced to Ohio to be with his sons, while friends and family in the Baltimore community held vigil and prayed.

Matthew underwent brain surgery, and spent 30 days in an Akron hospital before being stabilized and transported to Johns Hopkins, and then to Kennedy Krieger’s inpatient pediatric rehabilitation unit.

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Matthew works on strengthening his arm with occupational therapist Teressa Garcia Reidy, MS, OTR/L.

“Kennedy Krieger Institute is the hope center of the universe.”

­ — Ed Slattery, Matthew’s father

Never Alone

Matthew, who was a happy, exuberant 12-year-old before the accident, lay in an unconscious state. Matthew’s eyes were opening, but held a blank stare—he was not responding to his name or to pain. Brain scans showed he had damage to his brain stem, the part of the brain responsible for vital functions, such as breathing and heart regulation. His prognosis looked grim. But Ed never stopped believing that Matthew would recover, in large part because he knew he was in one of the best rehabilitation hospitals in the world. “Kennedy Krieger is the hope center of the universe,” he says.

Ed, who was the only parent now, had to take on the role of both mother and father for his sons while grieving for his wife and trying to help Matthew recover. He worried that Matthew would wake up alone and scared at a moment when he was at home with Peter. “The thought of Matthew waking up alone was unbearable,” says Ed. So family, friends, and neighbors rallied around, taking turns sitting with Matthew when Ed couldn’t be by his side. “Matthew was never alone, ever,” recalls Ed. Slowly, Matthew began to show some progress, but even the smallest movement came only after herculean effort.

At first he could move only his left index finger, and only slightly. “I would watch him trying to move his finger for minutes, and his finger would just quiver,” recalls Ed. One of the pivotal moments early in his recovery came when doctors capped his tracheostomy tube to see if he had the ability to breathe unassisted. The seconds ticked by and Matthew began to breathe on his own, first one minute, then two, and when the timer hit five minutes, everyone clapped. Ed put his head down and sobbed. With the help of doctors, therapists, and sheer determination, Matthew was one step further on his path to recovery.

Coming Home

When Matthew was stable enough to return home, the moment came for Ed to tell Matthew that his mother had died. He told Matthew how much his mother loved him and how proud of him she was. He held Matthew as he said the words no parent should have to utter to a child. Matthew couldn’t articulate his feelings, but he could still cry. His therapists took turns hugging him as the tears flowed.

At that point, Ed had no idea how much or how little progress Matthew would make. The only thing Ed was sure of was that Matthew still needed intense therapy. So when Matthew was ready to be discharged, he began outpatient therapy through Kennedy Krieger’s Specialized Transition Program (STP), spending up to six hours a day engaged in occupational, physical, and speech therapy, as well as education. This intense therapy helps repair the brain in a process known as neuroplasticity, in which the neurons in the brain begin forming new connections to replace the damaged ones.

STP fills a unique niche in rehabilitation from severe injuries; it provides treatment for patients who no longer require round-the-clock medical observation and therapy, but who still require intensive therapy before full return to the community.

“For patients like Matthew who have sustained a severe traumatic brain injury, returning home is often a catalyst for a burst of recovery,” explains Joan Carney, EdD, director of STP. “Being able to be in their home and with family every evening, yet still have the advantages of therapyrich activity every day at STP for the continuation of their recovery, is often the perfect prescription.”

“My attitude is that Matthew can do whatever we imagine him doing.” ­— Ed Slattery potential 7

Never Alone

Matthew, who was a happy, exuberant 12-year-old before the accident, lay in an unconscious state. Matthew’s eyes were opening, but held a blank stare—he was not responding to his name or to pain. Brain scans showed he had damage to his brain stem, the part of the brain responsible for vital functions, such as breathing and heart regulation. His prognosis looked grim. But Ed never stopped believing that Matthew would recover, in large part because he knew he was in one of the best rehabilitation hospitals in the world. “Kennedy Krieger is the hope center of the universe,” he says.

Ed, who was the only parent now, had to take on the role of both mother and father for his sons while grieving for his wife and trying to help Matthew recover. He worried that Matthew would wake up alone and scared at a moment when he was at home with Peter. “The thought of Matthew waking up alone was unbearable,” says Ed. So family, friends, and neighbors rallied around, taking turns sitting with Matthew when Ed couldn’t be by his side. “Matthew was never alone, ever,” recalls Ed.

Matthew today, two years into recovery.

Slowly, Matthew began to show some progress, but even the smallest movement came only after herculean effort.

At first he could move only his left index finger, and only slightly. “I would watch him trying to move his finger for minutes, and his finger would just quiver,” recalls Ed. One of the pivotal moments early in his recovery came when doctors capped his tracheostomy tube to see if he had

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“The day Matthew started talking was huge. Everybody remembers that day— we were all incredibly excited.” ­— Joan Carney, EdD the ability to breathe unassisted. The seconds ticked by and Matthew began to breathe on his own, first one minute, then two, and when the timer hit five minutes, everyone clapped. Ed put his head down and sobbed. With the help of doctors, therapists, and sheer determination, Matthew was one step further on his path to recovery.

Coming Home

When Matthew was stable enough to return home, the moment came for Ed to tell Matthew that his mother had died. He told Matthew how much his mother loved him and how proud of him she was. He held Matthew as he said the words no parent should have to utter to a child. Matthew couldn’t articulate his feelings, but he could still cry. His therapists took turns hugging him as the tears flowed.

At that point, Ed had no idea how much or how little progress Matthew would make. The only thing Ed was sure of was that Matthew still needed intense therapy. So when Matthew was ready to be discharged, he began outpatient therapy through Kennedy Krieger’s Specialized Transition Program (STP), spending up to six hours a day engaged in occupational, physical, and speech therapy, as well as education. This intense therapy helps repair the brain in a process known as neuroplasticity, in which the neurons in the brain begin forming new connections to replace the damaged ones.

STP fills a unique niche in rehabilitation from severe injuries; it provides treatment for patients who no longer require round-the-clock medical observation and therapy, but who still require intensive therapy before full return to the community.

“For patients like Matthew who have sustained a severe traumatic brain injury, returning home is often a catalyst for a burst of recovery,” explains Joan Carney, EdD, director of STP. “Being able to be in their home and with family every evening, yet still have the advantages of therapyrich activity every day at STP for the continuation of their recovery, is often the perfect prescription.”

Program Spotlight

One-year-old Mason Ditch receives treatment for seizures and tumors in his heart and brain at the Institute’s new Tuberous Sclerosis Clinic.

Bringing it all Home

for Patients with Tuberous Sclerosis New interdisciplinary clinic brings world-class research, care, and support for families of patients with complex neurodevelopmental disorder. hen Chris and Crystal Ditch delivered their baby boy, Mason, they burst into tears of joy. It had taken them four years to get pregnant, and they finally held the baby they had awaited for so long. But two hours before Crystal and Mason were scheduled to be discharged, doctors told them that Mason had tumors in his tiny heart.

A few days later, doctors found tumors in his brain, and diagnosed him with tuberous sclerosis, a rare complex genetic disorder occurring in one out of 6,000 births that causes non-cancerous tumors to grow in multiple organs, including the brain, eyes, heart, kidneys, skin, and lungs.

The Ditches left the hospital with a referral to Tanjala Gipson, MD, at Kennedy Krieger Institute, where the new Tuberous Sclerosis Clinic is one of only 30 clinics in the United States dedicated specifically to the care of individuals affected by tuberous sclerosis and their families.

For parents, a diagnosis of tuberous sclerosis in their child can be daunting because the disease can affect so many organs and requires lifelong monitoring and treatment—and because the prognosis is unknown. Some patients have very few symptoms, while others develop severe intellectual disabilities. Up to 60 percent of children with tuberous sclerosis develop autism, and as many as 90 percent experience seizures.

Dr. Gipson, a former clinical research fellow who now heads the clinic, takes the time to explain the diagnosis to parents and answer all of their questions, offering advice, understanding, and support. “In addition to educating

families about medical care for their child, we take time to learn about their interests and needs, and how we can support them.”

“Dr. Gipson has been our rock through all of this,” says Crystal. “With all the uncertainty that comes with this diagnosis, to have that peace and confidence with your doctor is a huge blessing.”

Although there is no cure for tuberous sclerosis, early diagnosis and treatment are key to optimal outcome. In particular, control of seizures can be vital in order to prevent brain damage and cognitive impairment. In Mason’s case, Dr. Gipson was able to successfully treat his seizures with medication when they first appeared, and he is now seizure-free.

“Early intervention for seizures and direct targeting with medications that attack the underlying cause of tuberous sclerosis have both led to improved outcomes in children like Mason.”

– Tanjala Gipson, MD, director of the Tuberous Sclerosis Clinic continued on page 12

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research frontiers

Infant Head Lag May Raise a Red Flag for Autism

A simple diagnostic test may help parents and pediatricians identify babies at risk for autism as early as six months of age. xperts agree that early intervention in children with autism can lead to better outcomes later in life. Typically, autism is not diagnosed until age three or four, when delays in speech and social interaction become evident. New research by Dr. Joanne Flanagan and Dr. Rebecca Landa, director of the Center for Autism and Related Disorders at the Kennedy Krieger Institute, has identified a simple test that can raise a red flag for autism as early as six months.

In the study, a simple “pull-to-sit” test was given to a group of infants with a family history of autism. Researchers looked at head lag in these babies at 6, 14, 24, and 30 months of age.

They found that 90 percent of subjects diagnosed with autism had exhibited head lag as infants; 54 percent who met criteria for social and communication delay had exhibited head lag as infants; and 35 percent of children not meeting the criteria for social or communication delay or autism had exhibited head lag at six months.

In a subsequent study, the head-lag test was given only to six-month-olds. The researchers found that the high-risk infants were more than two times as likely to display head lag as the low-risk infants, further suggesting that head lag is more common in infants at risk of developing autism.

“When we see these kinds of indicators that development is disrupted so early in life, we really have a huge advantage,” Dr. Landa says. “We will not have to wait until after the first birthday—after seeing that first words are not emerging—to begin taking action.”

“People think about infancy and ask, ‘What can we do?’”

Dr. Landa says. “Actually, there is a lot you can do with an infant to help him with motor skills development and to begin to understand communication and social interaction, and how to play. We teach parents how to use certain strategies with their babies during everyday activities—feeding, bathing, diapering, and playing—and how to recognize the little steps that signify progress.”

This important finding has led to the recent funding of related research. Two subsequent studies will examine in depth the relationship between motor development and social and communication skills.

Dr. Landa hopes that every parent of a six-month-old who learns about this research will try the head-lag test.

“It’s very easy for doctors and parents to do this test in babies six months and older,” Dr. Landa says. “If we know a baby has increased genetic risk factors for autism and we see the head lag, we should refer the baby for further developmental workup, monitor the baby’s development, and make sure parents learn strategies for helping the baby to develop motor control.”

The “pull-to-sit” test for head lag is performed with the baby lying on his back. He should be able to control his neck muscles when gently but firmly pulled up by the arms to a sitting position. His head should follow his torso and not lag backward.

Many babies who show head lag do not go on to develop autism or other social or communication problems. “For some, the motor problem may be very transient, disappearing in the first nine months,” Dr. Landa says. “But don’t ignore it. Talk to your pediatrician. If it is a sign of delay, early intervention can improve the outcome.” She adds, “We want intervention to begin when brains are more malleable and still developing their circuitry.”

To learn more about this research and see how to perform the “pull-to-sit” test, visit kennedykrieger.org/headlag. n by Martie Callaghan

T ips for P arents

The “Pull-to-Sit” Test for Head Lag This test is recommended for babies over the age of 6 months with a family history of autism.

1. Place the baby on his back on the floor.

2. Kneel over the baby and make eye contact.

3. Gently tug on the baby’s arm to give him a cue.

4. F irmly but gently pull the baby up by his arms to a sitting position.

If the baby is distracted, be sure to get his full attention before beginning the test. The baby’s head should follow his torso up and not lag backward. If the head does appear to lag, be sure it’s not just that the baby is trying to keep an eye on something behind him.

If the baby continues to exhibit head lag after doing the test a couple of times, have a pediatrician examine the baby for other signs of developmental delay.

To learn more about current research initiatives at the institute, visit kennedykrieger.org/research.

In My own words

“You can do whatever you want as long as you put your mind to it.”

John Manison

In November 2009 I felt a sudden, severe pain in my legs. I was diagnosed with a disease called transverse myelitis, which attacked my spinal cord and paralyzed me from the waist down. I had some feeling in my legs, like pins and needles, but I had no movement whatsoever. I started coming to Kennedy Krieger for intensive therapy four to five hours a day. Thanks to my amazing therapists and because I was religious about continuing therapy at home, I made a lot of progress. I started walking with crutches, but at first I was straining really hard to get anywhere. Now I have 65 to 70 percent of my function back.

Kennedy Krieger is like my second home. I love it here, and I love the people here. I have a special connection with Stephanie Jordan, who was my first therapist, and Sara Shippen, my current therapist, is absolutely amazing—I couldn’t ask for anyone better to motivate and push me.

Before I was in a wheelchair, I wasn’t a competitive swimmer, but I’ve always loved the water. One of my goals has always been to letter in a sport, so I decided that swimming for my high school team was a way to achieve that goal.

I qualified for districts and swam in the 200-meter medley. After qualifying for districts, I wanted to see what happened if I swam against people with disabilities.

I ended up placing fourth in the nation in the 50-meter freestyle. This year, I’m swimming for my college at Ashland University, and I’m hoping to represent my country in the 2016 Paralympics in Rio. In October, I ran the Baltimore half-marathon on crutches. I knew if I told myself I would do it, I would, even if I had to crawl across the finish line.

My inspiration is Patrick Rummerfield, who not only learned to walk again after quadriplegia, but went on to run the Antarctica Marathon and compete in the Ironman triathlon. His is one of the most moving stories on the planet.

My advice to others is, don’t let others tell you “you can’t.”

If you want to do it, do it. You can do whatever you want as long as you put your mind to it. isn’t Manison n h o J ld o om 18-yearp him fr ralysis sto reams. a p g in lett tic d his athle pursuing

John Manison is an 18-year-old freshman at Ashland University in Ohio. He is dedicated to his rehabilitation at Kennedy Krieger’s International Center for Spinal Cord Injury and focused on achieving therapy goals en route to living his life without a wheelchair. anek

s by Ken St

Photograph

potential 11

Bringing it all Home

for Patients with Tuberous Sclerosis continued from page 11

“Early intervention for seizures and direct targeting with medications that attack the underlying cause of tuberous sclerosis have both led to improved outcomes in children like Mason,” says Dr. Gipson.

In many cases, lesions or heart murmurs indicating tuberous sclerosis can be detected during prenatal ultrasound, but they can also be easily overlooked. Early screening and genetic testing will be among the main goals of the new clinic.

The Tuberous Sclerosis Clinic has an interdisciplinary team of specialists in epilepsy, neurology, cardiology, ophthalmology, nephrology, and genetic counseling to handle the complex needs that can occur with this diagnosis. Patients who develop neurodevelopmental symptoms may benefit from speech, physical, and occupational therapy, behavioral intervention, and other medical or rehabilitation services.

In Mason’s case, he will continue to have his heart tumors monitored by a cardiologist. So far they are not blocking any blood flow, and are expected to shrink and disappear as his heart gets bigger. He will need a brain MRI every year to monitor the lesions in his brain, and he will need to have his kidneys and eyes monitored, possibly for the rest of his life.

In the meantime, Dr. Gipson and her team are conducting research that may offer promising new treatments. Current research efforts are aimed at finding options for treatment through clinical trials of drugs that have shown to be especially effective in patients with tuberous sclerosis.

Dr. Gipson is examining whether drugs proven effective for seizures and brain tumors also have an effect on behavioral difficulties occurring with tuberous sclerosis, like self-injury and aggression.

The importance of Dr. Gipson’s research at the Tuberous Sclerosis Clinic has been recognized by the National Institutes of Health—Kennedy Krieger received the Neurological Sciences Academic Development Award, which provides three years of protected time for Dr. Gipson to continue her clinical research for children affected by tuberous sclerosis.

The clinic has also been designated as a member of the National Tuberous Sclerosis Alliance.

One-year-old Mason is now seizure-free thanks to early intervention at the Tuberous Sclerosis Clinic.

For families like Mason’s, the Tuberous Sclerosis Clinic offers a beacon of hope. “We’re so fortunate to have this resource practically in our backyard,” says Chris. “Without it, I don’t know where Mason would be.” n by Kristina Rolfes

Learn More. Get Involved. Stay Connected.

Receive News, Updates, & Alerts Learn about news, advancements, inspiring stories, great events, and more through our publications, e-mail updates, SMS alerts, and online communities. kennedykrieger.org/subscribe potential 14 potentialmag.kennedykrieger.org

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Join Us Online Visit our online communities to follow, watch, read, listen, and join the conversation. kennedykrieger.org/connect potential 13

news briefs & events

If Santa had a theme park, this would be it!

Kennedy Krieger Institute’s Festival of Trees is right around the corner! The 23rd annual holiday event will be held November 23-25 at the Maryland State Fairgrounds Cow Palace in Timonium. Festival of Trees is a winter wonderland, featuring more than 600 spectacular holiday trees, wreaths, and gingerbread houses created by local designers. Once you’ve feasted your eyes on the decorations, enjoy the live holiday entertainment, seasonal merchants, a children’s craft area, a magical carousel, “reindeer” pony rides, a train garden, and of course, Santa. Over the years, Festival of Trees has become an eagerly anticipated holiday tradition for many area families. Why not make it one of your family traditions? For more information, please visit festivaloftrees.kennedykrieger.org or call 443-923-7300.

Use this coupon for $1 off Admission

(PTL)

Maryland State Fairgrounds, Timonium, Maryland November 23, 24, & 25, 2012 Fri. 10 a.m. - 9 p.m. • Sat. 10 a.m. - 9 p.m. • Sun. 10 a.m. - 6 p.m.

Admission Prices: Adults $13 • Kids & Seniors $7 Must present original publication as coupon.

unity Baltimore Comm rieger yK “Likes” Kenned mmer, Kennedy

Kennedy Krieger Resear chers Featured in the Wall Stre et Jour

nal

Promising research from Ke Last su nnedy Krieger experts Drs . Rebecca s wa te Lan itu st da and Amy Bastian recent In r Kriege ly att rac ted the att ent ion of the part Wall Street Journal. In May, selected to take the prominent newspaper published l’s ua a feature article about Dr. in Liberty Mut Landa’s efforts underway at ou g r in Center for Autism & Relate est. Dur d Disorders to change outco Community” cont y M e ik “L al me nu s for an children with autism by inte nizations rvening at the earliest possib cal non-profit orga ity le un age the contest, six lo m . m Jus co t e a month later, a second sto ry highlighted findings from lping the Baltimor of s committed to he ek we Dr. Bastian’s Motion Analy t sis Lab that suggest use of $30,000. After eigh a split-belt ng, competed to win gi sa tre es admill and non-invasive bra m xt te d an ok bo in stimulation may have po ce Fa via g tin vo ily e tential da in improving stroke rehabi voted th litation. Want to read more? cated supporters g Fin in d thousands of dedi rn ea link n, io s to these articles by visiting number two posit Potential magazine online s nd fu e at Institute into the Th 0. potentialmag.kennedykri 00 eger.org. ograms over $30, in n our community pr re lp child rty Mutual will he donated by Libe s foster care, Save the Date our special need ed sports, physically challeng cy programs. and legal advoca r your support We thank you fo and for voting!

ROAR for Autism April 28, 2013

Benefits the Center for Autism and Related Disorders at Kennedy Krieger Institute ROAR.kennedykrieger.org

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P lanned

G iving

P r o gram

Leave a Legacy that Unlocks a Child’s Potential It’s human nature to want to be remembered for something great. Today, many of our donors are investing in a child’s future by creating a legacy gift. These planned gifts allow for a great deal of flexibility and choice, depending on your personal financial needs. Some options offer immediate tax benefits, while others provide a guaranteed lifelong income. But each ensures that as long as there are children with developmental disabilities, Kennedy Krieger will be there to help them unlock their potential.

To find out more, contact the Kennedy Krieger Office of Development at 1-800-HELPKIDS or visit plannedgiving.kennedykrieger.org.

“Now I know why they say the real miracles happen at Kennedy Krieger.” ­– Joanne, mother of Ben

“Sharing our blessings by supporting the medical research at Kennedy Krieger creates a personal legacy, one that will transcend our own lifetimes and touch others far into the future.”

– Sandra and Clement Alpert

Your support is the key to unlocking a child’s potential.

helpkids.kennedykrieger.org