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Cutting-edge device approved for compassionate use saves leg, life of cancer patient

When 7-year-old Naomi Adrian took a spill on the school playground early 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 she 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 the Riverside girl’s left distal femur, the area of the leg just above the knee joint.

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

Thus began a medical journey that showcases CHOC’s commitment to outside-the-box thinking when it comes to patient care, including investigational therapies, diagnostics, and devices — as well as the benefits of CHOC’s partnership with UCI Health.

In Naomi’s case, her lead physician at CHOC, Dr. Amir Misaghi, an orthopaedic surgeon with specialties in pediatric orthopaedics and musculoskeletal oncology, was able to secure a 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.

Dr. Amir Misaghi, pediatric orthopaedic surgeon at CHOC 

“I’ve used it before,” Dr. Misaghi said of Onkos Surgical cutting guides, “but this was the first time I’ve used it in a pediatric patient.”

Ruling out other surgical options that he deemed less promising and more onerous on young Naomi’s growing body, Dr. Misaghi, who came to CHOC in October 2019 from Children’s Hospital of Philadelphia, used the Onkos device after his one-time compassionate use trial request was approved by the FDA.

In the surgery, in which Dr. Misaghi was assisted by orthopaedic surgeon Dr. Carl Weinert, the Onkos 3D resection guides, which were customized to Naomi’s leg and the growing tumor on it, helped the surgeons make extremely precise cuts as they removed the baseball-sized tumor and surrounding bone while sparing Naomi’s knee joint and the part of her bone that grows through adolescence.

Dr. Raj Vyas, chief 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 along with the artery and vein that supply that segment of bone.

The fibula bone runs on the outside of the leg from the knee joint to the ankle joint and can be mostly removed without affecting one’s ability to bear weight.

Drs. Misaghi and Vyas then worked together to hollow out a cadaveric arm bone (humerus) and insert Naomi’s fibula bone into its core. The cadaver humerus bone was custom selected to match the size of Naomi’s femur and provide structural support. Dr. Vyas then connected the artery and vein supplying the fibula bone to a nearby artery and vein in the leg using microsurgical techniques. This allowed the vascularized fibula to “bring back to life” the cadaveric 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 said.

Naomi with her mom and Dr. Misaghi

Said Dr. Vyas of the 10 hours he worked 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. 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 to Naomi state-of-the-art reconstruction.

“A while ago,” Dr. Vyas added, “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.”

Alternative treatments that Dr. Misaghi ruled out for Naomi included a rotationplasty, which would have resulted in the loss of her knee joint and a large portion of her leg, thus requiring a prosthesis; and another technique that also would have meant the loss of her knee joint and a prosthesis that would have required several subsequent surgeries as Naomi grew.

A very active child, Naomi loved to participate in ballet and gymnastics before her diagnosis on March 3, 2020.

“Hopefully we can get her back dancing,” Dr. Misaghi said. “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 sister, Itzel, or other relatives push her in her wheelchair.

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

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

So far, Naomi is progressing very well, said Dr. Misaghi, who keeps regular tabs on 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 said. “But the survival part of her prognosis is very good since she had clear margins and she’s gotten back on the chemo, 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.”

In a Zoom call, Naomi, wearing a white bow on her head, was asked how her leg felt.

“Good,” she said.

Can you walk and do normal things?

“Not yet. Maybe in a year.”

Naomi’s oldest sibling, Itzel, 20, said Naomi has been a champ through the entire process.

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

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

“We knew that it would be very hard for her to accept losing her leg,” Itzel said. “We were happy that there was a way that that could save not only her life, but her leg.”

Said Maria: “We are extremely grateful to God for listening to our prayers and with 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. May God continue giving them the intelligence and determination to continue to save other kids’ lives.” 

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 said.

For more information about the Hyundai Cancer Institute at CHOC, click here.

Collaborative effort involving milestone procedure saves premature baby 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).

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

When Becca first set eyes on Hope a couple of days after she was born, she was very concerned about her baby’s health.

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

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.

Dr. Amir Ashrafi, neonatologist 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.

Her baby had no kidneys, Becca was told. She 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.”

She 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, she 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 that 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 holes 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 renowned 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.

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 (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 her check-ups, is very pleased with her progress.

“She basically has a normal circulation,” he said. “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.

Baby Hope

Dr. Ellini said 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,” he said. “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 she did well.”

Becca can’t praise Hope’s team at CHOC enough. “They’re totally lifesavers,” she said. “It was a roller coaster — heartbreaking and exiting. I was pretty much afraid all the time, but they treat you like you are family.”

Multi-Focus Seizures Complicate Surgical Treatment for Pediatric Epilepsy Case

During Celeste’s pregnancy, an ultrasound showed that her baby had heart abnormalities. Once baby Jaylynn was born, further diagnostic evaluation confirmed she had tuberous sclerosis complex (TSC), a disorder that causes growths in multiple organs, including the heart, brain, kidneys and lungs. TSC is a genetic disorder, and patients with this condition are known to have a high seizure burden.

In the days after her birth, the right side of Jaylynn’s body seemed to twitch, and Celeste’s instincts told her Jaylynn was having seizures. Celeste mentioned this to her nurse at the hospital where Jaylynn was born, but her worries were dismissed. After being sent home, Celeste called CHOC Children’s and met with Dr. Lily Tran, a pediatric epileptologist at CHOC’s level 4 pediatric epilepsy center.

Over the next three years, Jaylynn tried several different treatment options, including medications, ketogenic diet and steroid treatment. Most treatments followed the same pattern: the seizures would stop for a few months, but then come back stronger than before. She regressed significantly in terms of development, no longer made eye contact, could not sit up even with support and was lethargic all day due to the high seizure burden. She started losing weight and had to have a G-tube placed for adequate nutrition. Her medication regimen was at high doses to control seizures, which led to side effects, such as vomiting and lethargy, which impacted her quality of life significantly. Her days consisted of seizures, vomiting and sleep. At that point, Celeste said her family was simply trying to survive.

“Jaylynn’s refractory case of epilepsy was quite complex because we couldn’t pinpoint where her seizures were coming from based on Phase I surface EEG monitoring,” says Dr. Tran. “We used several different imaging techniques to locate the focus of her seizures, including a virtual reality simulation program. Through these tests and Phase II invasive EEG monitoring, we found her seizures were coming from the left side of her brain, but on this one side, we then found the seizures were coming from three distinct areas. Her case was discussed extensively at our comprehensive epilepsy surgery conference, but there was no clear-cut answer and consensus on what to do next. Each approach had various pros and cons, and each option had questions and concerns. As a team, we constantly asked ourselves, ‘What’s best for Jaylynn?’ when considering these treatment options. Mom was updated at every step of the way so she could make the most informed decision for her daughter.”

Because the seizure focus came from three different areas in the left hemisphere, it was not reasonable to resect these regions separately without significantly more post-operative side effects. Dr. Tran elected to proceed with a functional hemispherectomy to give Jaylynn the best outcome for seizure control and to turn her quality of life around. The procedure essentially “quieted down” the electrical activity in the left side of her brain.

“For Jaylynn, I used everything I learned in fellowship, consulted with other colleagues and leveraged the tools we have at CHOC — such as our ability to perform invasive surgery and our research capabilities — to determine the best course of treatment for this complex epilepsy case. When you have a multidisciplinary team like ours that includes a dedicated neurosurgeon, neuroradiologists, neuropsychologists, educated nurses, EEG technologists, epilepsy pharmacists, social workers and parent champions who work cohesively together, it helps make the patient’s journey a little bit easier.”

Today, Jaylynn is seizure-free and on fewer medications. She is now laughing and smiling, more interactive, enrolled in school and even got to visit Disney World.

“What makes CHOC different from similar centers, I think, is our focus on the patient journey and how we value the quality of life for each patient,” says Dr. Tran. “We treat every child and their family as a whole unit. When you come to CHOC, you’re not just our patient. You truly become part of our family.”

Our Care and Commitment to Children Has Been Recognized

CHOC Children’s Hospital was named one of the nation’s best children’s hospitals by U.S. News & World Report in its 2020-21 Best Children’s Hospitals rankings and ranked in the neurology/neurosurgery specialty.

Learn how CHOC’s neuroscience expertise, coordinated care, innovative programs and specialized treatments preserve childhood for children in Orange County, Calif., and beyond.

The transition from child to adult care must start early with education, pediatric neurologist emphasizes

Navigating from child to young adult can be very challenging in the best of circumstances.

Add a chronic or rare medical condition to the journey, and the process can get very scary.

Teens with chronic conditions face a higher risk of non-adherence to taking their medication or even obtaining it when transitioning from a pediatric to adult primary care provider, medical experts say. And statistically, the chance of them having to be admitted into an ER or have surgery increases, as does the prospect of them dropping out of treatment – which could have fatal results.

Dr. Mary L. Zupanc, co-medical director of CHOC’s Neuroscience Institute and a pediatric neurologist who specializes in epilepsy and rare conditions, stressed in a recent webinar that she’s passionate about preventing patients transitioning to adult care from falling through the cracks.

Dr. Mary L. Zupanc, co-medical director of CHOC’s Neuroscience Institute

“We begin with introducing the concept of transitioning to adult care when our patients are 12 years old,” Dr. Zupanc said while speaking on a four-person panel hosted by Global Genes, an Aliso Viejo-based non-profit that advocates for the rare disease community.

The topic of the 50-minute discussion on Sept. 24, 2020 was “Navigating the Transition of Care for Young Adult Patients.”

In addition to her position at CHOC and as a faculty member at UC Irvine, Dr. Zupanc sits on the board of directors of the Child Neurology Foundation (CNF) in Minneapolis, Minn. On its website, the CNF details several resources about transitioning to adult care.

“We at CHOC have followed the CNF’s template to develop a formal transitioning program here,” Dr. Zupanc said.

Starting the conversation with families when a patient is 12 years old may seem too early, Dr. Zupanc said. But transitioning is a process that doesn’t have a one-size-fits-all solution, and it’s critical to start the discussion when patients are young.

The other panelists agreed. They were Dr. Leah Ratner, a fellow at Brigham and Women’s Hospital in Boston; Sneha Dave, 22, a student at Indiana University who since age 6 has lived with ulcerative colitis; and moderator Amy Ohmer, director of the International Children’s Advisory Network in Marietta, Ga., and the mother of two daughters, ages 17 and 19, who have chronic and rare conditions.

“I think it’s important to introduce the concept (of transitioning) early – to let the parents and patient know, ‘We’re not just going to throw you out,’” Dr. Zupanc said. “Rather, ‘We’re going to work with you so you can learn to self-manage your disease and your medications. And we’re going to go over your plan on a yearly or bi-annual basis.’”

Under the transitioning plan adopted by CHOC thanks to a grant, a healthcare transition program is initiated when patients turn 12 years of age.

Clinicians, social workers, and others continue to prepare their patients and their families for increased independence and management of their care, as well as to the adult model of care, Dr. Zupanc explained.

The actual transition to adult care varies from 18 to 22 years of age—often dependent on insurance—and ideally occurs in stages, as these young adults may have multiple subspecialists. Between the ages of 23 and 26 years, the young adults are integrated into adult care.

“It’s a partnership,” Dr. Zupanc said. “It takes a community.”

Sneha, the Indiana University student, said the transition must go slow because there are so many components to it, such as having to navigate health insurance.

“Young adults diagnosed with a condition at childhood tend not to be as prepared because their parents or guardians took care of everything and they had no ownership of their own care,” Sneha said.

When she was a freshman, Sneha founded the Health Advocacy Summit, which empowers young adults with chronic and rare diseases through advocacy events and programs. In August 2020, the organization hosted an international virtual summit.

“It’s a process,” Dr. Zupanc agreed of transitioning to adult care. “And I think it’s a process of self-empowerment. Most parents are used to taking care of everything. We try to empower our teenager and young adults as much as possible. Parents have to let go at some point, but it’s a process.”

The bulk of Dr. Zupanc’s patients have severe epilepsy that started in infancy. A high percentage also have intellectual disabilities.

“Sometimes they take a step forward and two steps back,” she said.

The path toward a successful transition to adult care begins with knowledge, she explained, followed by support, confidence and, finally, independence.

Dr. Zupanc noted that patients who leave CHOC are welcomed to stay in touch.

“As a pediatric provider for children with rare diseases,” she said, “I let my families and adolescents know that I have their backs and that I’m not going to let them fall into the abyss. If there are issues, I’m here to help them.”

November is epilepsy awareness month. To learn more about CHOC’s Comprehensive Epilepsy Program, click here.

Virtual pediatric lecture series: Bladder function and dysfunction

CHOC’s virtual pediatric lecture series continues with “Bladder function and dysfunction: Woes for primary care clinicians.”

This online discussion will be held Friday, Nov. 13 from 12:30 p.m. to 1:30 p.m. and is designed for general practitioners, family practitioners and other healthcare providers.

 Dr. Antoine “Tony” E. Khoury, medical director of urology at CHOC, will discuss several topics, including:

  • The basics of normal bladder function.
  • Understanding the relationship between bladder and bowel dysfunction.
  • Diagnosing the different causes of urinary incontinence.
  • Managing the different therapeutic modalities to correct bladder and bowel dysfunction.

This virtual lecture is part of a series provided by CHOC that aims to bring the latest, most relevant news to community providers. You can register here.

CHOC is accredited by the California Medical Association (CMA) to provide continuing medical education for physicians and has designated this live activity for a maximum of one AMA PRA Category 1 Credit™. Continuing Medical Education is also acceptable for meeting RN continuing education requirements, as long as the course is Category 1, and has been taken within the appropriate time frames.

Please contact CHOC Business Development at 714-509-4291 or BDINFO@choc.org with any questions.