Cutting-edge device approved for compassionate use saves leg, life of young girl

When 7-year-old Naomi Adrian took a spill on the school playground earlier this year and a schoolmate fell on top of her left leg, she got up with a slight limp.

After what appeared to be a bruise kept growing, and as Naomi continued to walk awkwardly, her mother, Maria Nino, took her to the doctor.

A subsequent visit to a specialist revealed a tumor – an osteosarcoma, a type of bone cancer — on Naomi’s left distal femur, the area of the leg just above the knee joint.

When a doctor who was supposed to remove the tumor at a hospital near their home was unable to see Naomi on the day of the planned surgery, Maria rushed her to CHOC.

This began a medical journey for Naomi that, among other lessons, would give her and Maria a firsthand look at CHOC’s commitment to outside-the-box thinking when it comes to patient care, including investigational therapies, diagnostics and cutting-edge devices — as well as the benefits of CHOC’s partnership with UC Irvine.

Naomi’s lead physician at CHOC, Dr. Amir Misaghi, an orthopaedic surgeon with specialties in pediatric orthopaedics and musculoskeletal oncology, was able to secure a cutting-edge device — that doesn’t have U.S. Food & Drug Administration approval yet for use in pediatric patients — to help him successfully remove the tumor and reconstruct Naomi’s leg. He had used the cutting-edge device, Onkos Surgical cutting guides, before, but this would be the first time using it on a pediatric patient. These guides help surgeons make extremely precise cuts to remove tumors and surrounding bone.

Naomi with her mom and her CHOC doctoer
Naomi with her mom and Dr. Misaghi

When creating a personalized treatment plan for Naomi, Dr. Misaghi ruled out several surgical options that he deemed less promising and more burdensome on Naomi’s growing body. These included a rotationplasty, which would have resulted in the loss of her knee joint and a large portion of her leg, and required a prosthesis. He also ruled out another technique that likewise would have meant the loss of Naomi’s knee joint and a prosthesis that would have required several more surgeries as Naomi grew.

Dr. Misaghi then applied for a one-time compassionate use trial request with the FDA, which was approved.

In the surgery, Dr. Misaghi, assisted by CHOC orthopaedic surgeon Dr. Carl Weinert, used the Onkos 3D resection guides which had been customized to Naomi’s leg and the growing tumor on it, and removed the baseball-sized tumor and surrounding bone. This allowed them to spare Naomi’s knee joint and the part of her bone that grows through adolescence.

Dr. Raj Vyas, chair of plastic surgery at CHOC and vice chair of plastic surgery at UCI School of Medicine, then began to reconstruct Naomi’s femur. To do this, he dissected free a segment of Naomi’s fibula bone – which runs from the knee to the outside of the ankle, parallel to the tibia or shin bone — along with the artery and vein that supply blood to that segment of bone.

The fibula bone can be mostly removed without affecting someone’s ability to bear weight.

Drs. Misaghi and Vyas then worked together to hollow out a humerus bone – which runs from the shoulder to the elbow — and insert Naomi’s fibula bone into its core. The humerus bone was custom selected from a cadaver to match the size of Naomi’s femur and provide structural support to her leg. Dr. Vyas then connected the artery and vein supplying the fibula bone to a nearby artery and vein in Naomi’s leg using microsurgical techniques. This allowed the vascularized fibula to “bring back to life” the cadaver’s humerus bone so that it can continue to grow with Naomi.

“This was pushing the envelope as far as reconstructive surgeries go for this type of thing,” Dr. Misaghi says.

Dr. Vyas spent 10 hours working on Naomi’s leg.

“In kids, it’s especially an advantage to use their own tissue if possible. If we didn’t have the ability to do this miscrosurgery, then we would have just done an inferior operation,” Dr. Vyas says. “Being able to work together and plan to do this at a children’s hospital with Dr. Misaghi’s expertise and our expertise at UCI Health, we were able to provide Naomi with a state-of-the-art reconstruction.”

He added, “A while ago, maybe at some hospitals they would have just performed an amputation. Because we have Dr. Misaghi, who can do a limb salvage using a cadaver graft, we were able to really perform the best operation possible.”

A very active child, Naomi loved to participate in ballet and gymnastics before her diagnosis.

“Hopefully we can get Naomi back dancing,” Dr. Misaghi says. “That would be the goal.”

Trips to the park

These days, as Naomi continues to undergo chemotherapy, the now-8-year-old enjoys trips to the park where her older sister, Itzel, pushes her in her wheelchair.

Naomi, whose family has since relocated to the Fresno area, also loves arts and crafts, her dolls, and playing with her twin sister, Natalie.

twin sisters
Naomi with her twin sister Natalie, during a pre-pandemic trip to Disneyland

“I felt sad, but I knew that someone was always with me,” Naomi says of her cancer diagnosis and journey. “Thanks to Dr. Misaghi, they saved my leg and I’m feeling happier now.”

So far, Naomi is progressing very well, Dr. Misaghi says, who keeps in regular contact with her. A year out from surgery, Naomi will be back at CHOC for a second surgery to remove screws that were placed near her growth plate.

“It remains to be seen how her growth plate responds,” Dr. Misaghi says. “But the survival part of her prognosis is very good, since she had clear margins and she’s resumed chemotherapy, and so the function of her leg prognosis is very good. She has a normal knee joint. And hopefully when everything heals, she’ll have some metal plates remaining but be able to grow normally with her own growth plate.”

Naomi says her leg feels “good” but that she can’t walk yet – maybe in a year, though.

Itzel says Naomi has been a champ through the entire process.

“She never complained about pain even after the surgery,” Itzel says.

Itzel and her mother are grateful for the excellent care Naomi received at CHOC.

“We knew that it would be very hard for Naomi to accept losing her leg,” Itzel says. “She’s so young and she’s such a girly girl; she’s always worrying about how she looks and everything. We were happy that there was a way that that could save not only her life, but her leg.”

Mom Maria echoes that feeling of gratitude.

“We are extremely grateful to God for listening to our prayers and for the amazing doctors, nurses and staff at CHOC. I want to especially thank Dr. Misaghi and Dr. Vyas as they made sure Naomi got the care she needed. They are a great team,” she says.

Naomi already knows what she wants to be when she grows up.

“I want to be a surgeon so I can save other people’s hands and legs,” she says.

Explore the Orthopaedics Institute at CHOC 

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Milestone procedure saves preemie with complex heart disease

Baby Hope looked into her mother’s eyes and gurgled.

Four days short of turning 9 months old, wearing a white onesie with the words “Best Gift Ever” on the front, she made more baby talk.

“You’re always a big chatterbox – what are you saying?” her mother, Elizabeth “Becca” Wyneken, said as she smiled and stared into Hope’s blue eyes.

Becca and Hope endured a lot to get to where they are now— a happy and very grateful mom and a relatively healthy 9-month-old baby girl whose light-brown hair is just starting to fill in.

The odds were stacked against Hope when she was born prematurely at 31 weeks and five days, weighing just 2 pounds, 3 ounces. Today, Hope is alive thanks to a team of doctors, nurses and others who cared for her throughout a four month stay on CHOC’s neonatal intensive care unit (NICU) and cardiovascular intensive care unit (CVICU).

Hope was born with a complex heart disease, as well as only one kidney and defects on her right leg and foot. Her cardiac neonatologist, Dr. Amir Ashrafi, pegged her chances of survival at between 20 and 30%.

“Don’t worry, Mom,” Dr. Ashrafi told Becca. “I think we can help her.”

Dr. Ashrafi and Hope
Dr. Ashrafi with Hope, during her stay in CHOC’s NICU

It would take an extensive collaboration between highly regarded cardiovascular interventionalists, some of whom were consulted at hospitals as far away as London, to do so.

And it would involve a high-risk procedure never performed on a baby so small at CHOC.

Grim news at 20-week scan

At 18 weeks pregnant, Becca, a teacher’s aide, went in for a checkup. Blood tests showed her baby had a high risk for Down syndrome and spina bifida.

Two weeks later, a scan of her baby’s anatomy revealed other potential problems.

Becca was told her baby had no kidneys, appeared to have no bladder, no right leg, no lungs, issues with her bowels, and a heart defect.

“I don’t think I stopped crying for the rest of the day,” Becca recalls. “It was horrible.”

Becca couldn’t drive home from the clinic; a friend had to pick her up. That night, Becca had dinner with her mother and aunt. Later, lying beside her mother, Becca cried.

“I can’t believe this is happening,” she said.

She felt a poke in her belly.

“Over and over again, when I got upset, she would poke me,” Becca said.

At that moment, she decided on a name for her baby.

“Hope,” Becca told her mother.

Second opinion reveals true complications

Becca got a second opinion about her unborn baby’s condition.

Her baby was missing a kidney and had a leg defect, she was told. Most seriously, Becca was told, the baby had a defect on her right ventricle, the chamber within the heart responsible for pumping oxygen-depleted blood to the lungs.

Hope’s aorta and pulmonary artery, which carry blood away from the heart, hadn’t developed properly. She had a hole in her heart as well as one in her left superior vena cava, a vein that helps circulate deoxygenated blood back to the heart. These defects caused blood to drain incorrectly; Hope would need a team of doctors to correct the blood flow.

“Being very small with complex heart disease, your options are very limited with what you can do and the timing of any procedures,” said Dr. Ahmad Ellini, Hope’s primary pediatric cardiologist.

There were lots of sleepless nights as Hope’s team of doctors and nurses monitored her closely. Becca was beside her nearly every night.

Dr. Ashrafi and Dr. Ellini consulted with two outside experts, San Francisco-based Dr. Mohan Reddy, who specializes in complex heart disease in small newborns, as well as thoracic and cardiac surgeon Dr. Glen Van Arsdell of Ronald Reagan UCLA Medical Center on the best course of action.

The team of physicians determined that a stent needed to be inserted under a pulmonary artery that was becoming too narrow making it hard for blood to flow through it. Such a procedure is risky, especially on a baby so small.

“In Hope’s case, the idea was if we could open up the area below the valve while not injuring the valve, that would be a home run,” said Dr. Sanjay Sinha, a CHOC pediatric cardiologist who put the stent in Hope’s heart. “Two things made this difficult: she was very small, and we had no stents this size.”

A vendor was able to secure the small stent needed a day before Hope’s surgery.

newborn baby in CHOC’s NICU
Hope as a newborn in CHOC’s NICU

Assisting Dr. Sinha during the procedure was Dr. Michael Recto, medical director of CHOC’s Cardiac Catheterization Lab.

Observing the recently developed procedure, known as valve-sparing RVOT — or right ventricular outflow tract — stent placement, were several cardiologists from CHOC and other pediatric hospitals.

“In some patients, there is very little room for a stent. Hope had just enough room for the stent to be placed,” Dr. Sinha explained. “We knew we had the technical skills and ability to do this, but this had never been done before at CHOC on a baby this size.”

A very scary moment

After the surgery, Hope got seriously ill with a viral infection. At one point, Dr. Ashrafi said, her heart stopped but the team was able to revive her.

In cases like Hope’s, where a newborn’s state of health is fragile, members of her clinical team often must pivot in an instant, making their work schedules long and unpredictable.

Hope was at CHOC for four months before she was able to go home. After that, physicians at another hospital removed the stent, closed the hole in her heart, and corrected her left superior vena cava.

Dr. Ellini, who continues to see Hope at check-ups, is very pleased with her progress.

“She basically has a normal circulation,” Dr. Ellini says. “She needed a pacemaker. Overall, she’s doing great. She’s only on one medication and is gaining weight.”

In fact, she’s up to 13 pounds.

Dr. Ellini says he’s proud of the extensive collaboration that was involved in Hope’s care at CHOC.

“We try to really foster a collaborative team approach in our interventional lab, and this is a great example of that,” Dr. Ellini says. “Having a dedicated neonatal cardiac intensive team of physicians and nurses who are really experts in what they do really was paramount in making sure Hope did well.”

Becca can’t praise Hope’s team at CHOC enough.

“They’re totally lifesavers,” she says. “It was a roller coaster – heartbreaking and exiting. I was pretty much afraid all the time, but they treat you like you are family.”

Learn more about the Heart Institute at CHOC Children's

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Wired for hope

Every morning when she awakes, Sydney Amato begins her daily battle with her body.

If she’s lucky, the 16-year-old will have gotten a handful of hours of uninterrupted sleep – dreaming, perhaps, of doing what most healthy kids her age take for granted:

Hanging out with friends. Going to school. Learning to drive.

Because of a neurological condition called dystonia, Sydney, who is in excellent cognitive health but speaks and walks with some difficulty, suffers from involuntary and near-constant contraction of muscles in her neck, arms, legs and trunk.

Her mind is unable to control the painful jerking that makes most of her body twist and go rigid, her muscles moving out of normal sequence.

Born a right-hander, she can feed herself with some struggle using her left hand. She wants to dress and put on makeup herself, but those normally simple tasks become lengthy ordeals.

“My body fights me all the time,” says Sydney, trying to distract herself in her hospital bed one morning by watching an old episode of “Keeping Up with the Kardashians.” Listening to her favorite music – Ariana Grande, Lauren Daigle, Drake – can only temporarily transport Sydney away from her debilitating condition.

“She knows what she wants to do,” says her father, Louis. “But her body won’t let her.”

Specialists at CHOC are working hard to change that.

CHOC patient and her father
Sydney, pictured with her father.

A first for CHOC

Recently, a team led by Dr. Terence Sanger, a physician, engineer and computational neuroscientist who joined CHOC in January 2020 as its vice president of research and first chief scientific officer, and Dr. Joffre E. Olaya, CHOC’s functional restorative neurosurgeon, implanted several temporary electrodes into Sydney’s brain. Collaborating with CHOC physicians was CHLA neurosurgeon Dr. Mark Liker.

Dr. Terrence Sanger, chief scientist at CHOC Children's

The surgery marked the first time a patient with a movement disorder at CHOC underwent a procedure called deep brain stimulation (DBS).

Working in perfect harmony as a team, Dr. Sanger and Dr. Olaya oversaw the first portion of a three-stage surgery on Sydney. As the surgeon, Dr. Olaya placed the leads following advice from Dr. Sanger, the neurologist, on where they should go.

 In the procedure, millimeter-thick electrodes were precisely positioned into the basal ganglia region of Sydney’s brain – about 3 inches deep. The surgery involved the use of the ROSA robot, the same tool that has been used during brain surgery on epilepsy patients at CHOC since 2015.

Considered one of the most advanced robotized surgical assistants, ROSA — which stands for robotic operating surgical assistant — includes a computer system and a robotic arm. It’s a minimally invasive surgical tool that improves accuracy and significantly reduces both surgery and anesthesia time.

The ROSA robot helped with implanting and targeting the electrodes and a portable operating-room CT scanner confirmed their position.

Turning down the volume

 DBS is designed to ease Sydney’s condition by sending electrical currents to jam her malfunctioning brain signals.

Think of turning down the volume on your car radio.

“Nobody really understands the cause of dystonia,” Dr. Sanger explains, “but there’s probably too much electrical stimulation going on in the motor areas of the brain. We’re trying to calm down that extra noise.”

Although DBS dates to the 1960s, it wasn’t until the 1980s that the modern era of using it to treat adult patients with tremor and Parkinson’s disease began.

In 2000, Dr. Sanger, working with engineers, data scientists, neurosurgeons and others, began implanting electrodes in pediatric patients.

Instead of the established method of placing the leads at predetermined sites and hoping they worked, Sanger and his team, just as they did in Sydney’s case, placed temporary leads to best assess where they should go permanently based on patient response.

In 2016, Dr. Sanger began honing DBS to treat children with dystonia. Before the surgery on Sydney, Dr. Sanger had overseen DBS on 26 children using the same three-stage technique. He says 80% of those children have seen successful results.

Early signs

Sydney began showing symptoms of dystonia – tremors in her hands – when she was 5 ½ years old.

A year later, she was using a wheelchair. She had her first brain surgery at age 7.

Since then, “she’s been all over the U.S.” seeking the right treatment for her condition after several setbacks, her father says.

But her condition was not improving.

Early this year, a neurologist in Kansas City, Missouri, recommended that Sydney see Dr. Sanger.

“I asked him, ‘If Sydney was your kid, where would you go?’” Louis Amato recalls. “He said, ‘Hands down, Dr. Sanger.’”

The COVID-19 pandemic pushed Sydney’s surgery to mid-August.

Sydney already had two electrodes in her brain that were only partially working when she came to CHOC in early August for surgery.

After two extensive run-throughs with their team, Dr. Sanger and Dr. Olaya, in a six-hour procedure that at one point required nearly 20 people in the operating room, implanted more electrodes to give Sydney a total of nine.

Dr. Joffre Olaya, a pediatric neurosurgeon at CHOC Children's
Dr. Joffre Olaya

After surgery, optimism

On Thursday, Aug. 20, six days after Sydney’s surgery, Dr. Sanger stopped by her room at CHOC Hospital. The room was decorated in purple, Sydney’s favorite color.

Dr. Sanger greeted her as CHOC staff members, joined by members of Sanger Lab, Dr. Sanger’s research laboratory that conducts research in pediatric movement disorders, prepared to have Sydney walk back and forth down a hallway while connected to electrical equipment programmed to record signals in her brain and muscles.

A thick coil of multicolored wires snaked from under a large white bandage covering Sydney’s head. Extending about 6 feet, the wires were plugged into specialized recording equipment controlled by Jennifer MacLean, a CHOC pediatric nurse practitioner whose job was to manipulate the strength of electrical charges affecting the four points of contact on each electrode.

The goal: determine which charges worked best and on which electrodes.

“It could have turned out that the DBS procedure made no difference,” Dr. Sanger says. “But we’ve seen a very good response in Sydney.”

For example, her once mostly useless right hand was working much better.

“It gives you goosebumps,” Louis Amato says.

After taking a bite of a veggie burger and sipping some water, Sydney started to walk.

Following her were seven CHOC and Sanger Lab specialists.

“Go nice and slowly,” Jennifer told Sydney. “You’re going too fast for us!”

Perhaps Sydney was anxious to get back to riding Tigger, a quarter horse, in her hometown of Carthage, Missouri. She has been riding him for six months.

CHOC patient horseback riding
Sydney is eager to get back to riding her favorite horse, Tigger.

“Her balance isn’t bad on the horse,” says Louis Amato.

Sydney also loves to tan by her pool and swim.

What she wants most, however, is to be freed from her body so she can return to school and do what most teens enjoy.

“It’s stressful,” says her mother, Angie. “She has a lot of friends her age, but she can’t do a lot of the things they do. She has her days when she can get really upset.”

Now, however, working with Dr. Sanger, Dr. Olaya and the entire team at CHOC, the Amatos are more optimistic than ever.

“We’re hopeful that this is going to be a big life-changer for her,” Angie Amato says. “That would be the best thing that could ever happen – better than winning the lottery.”

‘The A-Team’

After crunching numbers for a week to assess which of the nine electrodes proved to be the most effective based on how Sydney responded to varying degrees of electrical currents, Dr. Sanger and his team settled on four electrodes that were permanently used to treat her condition – three new ones, and one existing one.

The team performed this second surgery on Sydney in late August.

In the third and final surgery, successfully completed in early September, a rechargeable generator that powers the DBS leads was implanted in Sydney’s chest.

“As we get better and better at this and as the technology progresses, we’ll be able to do this on kids who are less sick than Sydney,” Dr. Sanger says.

Dr. Sanger and Dr. Olaya are poised to dramatically improve the lives of many more patients like Sydney at CHOC.

“I’m really excited that we will be doing more of these procedures to help pediatric patients with movement disorders and significantly improve their quality of life,” says Dr. Olaya. “I look forward to continuing to provide this type of personalized care.”

a CHOC patient poses with her mom
Sydney, pictured with her mother.

Angie and Louis Amato say Sydney has never gotten this much special attention during her 11-year-plus medical journey.

“Here at CHOC,” Louis Amato says, “we feel like we’re with the A-Team.”

Says Sydney: “I’ve never felt this much confidence and this good about treatment before.”

Learn more about deep brain stimulation at CHOC 

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A gain against pain

A child, resting in bed, fires up her 7-inch tablet and opens an app.

She selects from a variety of cartoon avatars — such as a panda or penguin — and backgrounds that include a colorful ocean floor with fish and other sea creatures.

Game on.

But this isn’t a typical game. It’s a kid-friendly tool that allows the child, who is being treated for cancer, to report the severity and type of pain she’s experiencing from her home — information her doctor can access in real time.

The app, named Pain Buddy, may aid in the reduction of pain severity in children during cancer treatment, according to results of a pilot study recently published in the online journal Pediatric Blood & Cancer.

The study found that Pain Buddy may be especially beneficial in helping children who have high levels of pain.

Pain Buddy is the brainchild of Michelle A. Fortier, a CHOC pediatric psychologist who is also a faculty member of the UC Irvine Sue & Bill Gross School of Nursing.

A screenshot of the Pain Buddy app
Pain Buddy app

Fortier, who specializes in pain management in children, was principal investigator of the recently published pilot study that was based on clinical studies of CHOC patients monitored by pediatric oncologist Dr. Lilibeth Torno and pediatric oncology nurse practitioner Christine Yun.

“Pain management is an important part of cancer survivorship, and I think Pain Buddy’s potential for use is very broad,” Dr. Torno says.

Most of the 48 children participating in the eight-week study had been diagnosed with leukemia. All were between the ages of 8 and 18. Results of this particular study come amid ongoing studies on the Pain Buddy app at other sites. Results of the comprehensive research effort, which will track 206 children, are expected in three years, Fortier says.

Pain Buddy, Fortier explains, was developed a few years ago to address a gap in pain management of kids at home compared to kids in the hospital, where it’s easier for doctors and nurses to stay on top of patients’ needs. The 48 children who participated in the pilot study spent a lot of time at home.

Tapping the expertise of professional app developers and researchers at UCI in the California Institute for Telecommunication and Information Technology (Calit2), Fortier and several other colleagues came up with a way for children to rate their pain as they were feeling it from home.

“Most kids experience pretty moderate to severe pain throughout their cancer treatment, and this pain just wasn’t sufficiently being addressed when the patients were at home,” Fortier says. “And when we think about pain assessment, we’re really terrible retrospective reporters of our pain experience.”

But with Pain Buddy, users can say how much they’re hurting, and where, as it’s happening.

“Pain can come from the cancer itself, such as a solid tumor, and it can come from treatment procedures,” Fortier says. “For example, lots of skin-breaking procedures occur during cancer treatment. And treatments like chemotherapy can cause nerve pain, inflammation of the gastrointestinal tract and mouth sores.”

In addition to completing a pain and symptom diary twice daily, the app automatically alerted the participants’ medical teams about such symptoms as nausea, itching, sadness and redness.

With a touch of a finger, the patients could select word bubbles to indicate descriptions — such as bad, annoying or terrible — to describe their pain.

A screenshot of the Pain Buddy app
The Pain Buddy app allows users to describe their pain with word bubbles, and can alert the care team.

Clinicians, in turn, could promptly address any symptoms that warranted intervention.

A key component of the Pain Buddy app, which for now only has been used by the pilot study participants, is the incorporation of coping skills shown to be effective in the management of pain, such as deep breathing, progressive muscle relaxation and guided imagery.

During these skills training exercises, patients could accumulate coins and, visiting a virtual store, customize their personal avatar and buy additional background themes.

A screenshot of the Pain Buddy app
The Pain Buddy app can help patients learn coping skills.

Pain Buddy represents an effective partnership between parents, young cancer patients and the health care institutions that treat them, Dr. Torno says.

“Our focus on cancer survivorship begins on the day of diagnosis,” Torno says.

CHOC’s After Cancer Treatment Survivorship (ACTS) program features a multidisciplinary team of clinical experts who monitor the late effects of cancer and develop a plan for long-term surveillance to ensure the best possible outcomes. Every child at CHOC who has gone through cancer therapy eventually lands in the ACTS program.

Fortier said the ultimate goal is to further refine Pain Buddy and license the app to hospitals for widespread use.

“The goal is to have every kid undergoing cancer treatment — from sarcoma patients to those with bone and other cancers — to have the ability to use Pain Buddy.”

Learn more about the Hyundai Cancer Institute at CHOC Children's

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Olivia’s Journey with Music Therapy

Olivia was unexpectedly born two months premature and spent the first seven months of her life in the CHOC neonatal intensive care unit (NICU). During some moments of their extended NICU stay, her parents weren’t sure if they would ever get to take their baby girl home.

From the day she was born, Olivia had been exposed to a high level of stimulation in the hospital setting. Despite the NICU’s environment of healing, the beeping of machines, and steady flow of clinicians in and out of her room had overwhelmed Olivia and made her weary of physical touch.

“Even though the doctors and nurses were very gentle with her, and everything was done with her best interest in mind, it’s a natural outcome for someone who has spent their entire life thus far in a hospital to be apprehensive of physical touch,” says Leilani, Olivia’s mother.

The NICU’s developmental team quickly saw that Olivia would benefit from music therapy, and introduced Olivia’s family to Brie Mattioli, a board-certified music therapist at CHOC who specializes in the NICU setting.

Initial goals of music therapy for Olivia included pain management, learning how to self-soothe, and self-regulation. Once her pain improved, she could show more self-expression and even develop preferences for certain types of music. (Her favorite song is “Rise Up” by Andra Day.)

Sometimes Brie’s goal was to help Olivia get to sleep, which is healing. During other sessions, their goals were focused on development and stimulation.

The calming effects of music therapy was just what Olivia needed.

Afterall, she underwent her first in a series of surgeries when she was just 2 weeks old. During prenatal scans, doctors discovered that Olivia had enlarged kidneys, and at birth they discovered her stomach was enlarged as well. Surgery was a priority. Under the care of Dr. Peter Yu, pediatric general and thoracic surgeon, Olivia’s intestines were repaired. Another surgery, when Olivia was 2 months old, shortened her lengthy spinal cord.

Olivia also showed traits of Noonan Syndrome ― a rare genetic disorder that affects one in 1,000 to one in 2,500 people. Noonan Syndrome is commonly associated with physical characteristics like atypical facial characteristics and a short stature, and clinical symptoms like heart defects, bleeding problems, feeding issues, developmental delays and malformations of bones in the rib cage.  Although Olivia seemed to exhibit mild physical characteristics of the syndrome, she displayed prominent clinical symptoms.

While she underwent genetic testing for Noonan Syndrome, Olivia’s care team also indicated that she was a candidate for genomic sequencing, the process for determining someone’s complete DNA sequence. Through a partnership with Rady Children’s Hospital, some critically ill infants and children in CHOC’s intensive care units have access to rapid whole genome sequencing. The research collaborative intends to decrease the time between an acute diagnosis and the implementation of effective treatment for difficult-to-diagnose cases. Olivia was genetically tested as were her parents. Two weeks later, the results came in. Neither parent tested positive for Noonan Syndrome, but Olivia did. Since neither parent was a carrier, this meant that Olivia had a uniquely altered gene that resulted in the syndrome.

“When the results came back, we were in disbelief and grieving,” Leilani recalls. “The news was unexpected and heartbreaking. We had never heard of Noonan Syndrome and we had done most of the genetic testing offered during my pregnancy. Our baby was so innocent, and she didn’t ask for any of this. I found myself fast-forwarding to the future and wondered what life would look like for her.”

Music as a journey to healing

While in the hospital, Olivia saw Brie four times a week for music therapy. The more music therapy sessions Olivia had, the more relaxed she became in a sometimes-stressful hospital environment.

“When bodies are relaxed, they heal better,” Brie says. “More opportunities for relaxation mean more opportunities for healing, positive gains and progress.”

In addition to helping patients make progress towards clinical goals, music therapy can provide a sense of normalcy to families in the midst of an emotional time.

“Music promotes a sense of positivity and peace in the room,” Brie says. “It wasn’t the nursery they planned to bring their baby home to, but it provides a sense of normalcy to families.”

The practice resonated with Leilani, who had even considered pursuing a career in music therapy in college. While pregnant with Olivia, she would frequently play music, everything from Ed Sheeran to N*SYNC for her daughter.

“My pregnancy was difficult, and music had always been a form of therapy to me,” Leilani says.

When Olivia was discharged from the NICU, her parents were given a CD specially recorded by Brie with Olivia’s favorite music therapy songs so she could continue healing at home.

“No parent signs up to be in the hospital for all those months,” Leilani recalls. “But I am so happy that CHOC was there when we needed them. CHOC was the right place for Olivia.”

Learn more about music therapy at CHOC

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