Batten disease patients highlight CHOC’s growing reputation as a destination for kids with rare conditions

In the yard of his home just outside Boise, Idaho, Ely Bowman loves to toss balls and play with Bobo, the family Goldendoodle. He also loves the trampoline.

“If you were to come over and just watch him,” says his mother, Bekah, “you would not believe me if I told you he was blind.”

Ely, who turns 8 in July, lost his sight when he was 6 due to the rare neurological disorder CLN2 disease, one of the most common forms of a group of inherited disorders known as Batten disease.

Kids with CLN2 disease are missing an enzyme that chews up waste products in the brain. This lack of a cellular “Pac Man” to gobble up the bad stuff eventually leads to the destruction of neurons, resulting in blindness, loss of ability to speak or move, dementia, and death – usually by the teens.

There is no cure for CLN2 disease. But thanks to genetic scientists, neurosurgeons and nurses at CHOC, there is hope for delaying progression of the disease – one that claimed the life of Ely’s older brother, Titus, at age 6 in September 2016 before a cutting-edge therapy became available at CHOC six months later.

Ely Bowman and his older brother, Titus. Both were diagnosed with Batten disease. Titus passed away in 2016 at age 6.

The therapy, Brineura, is a medication that treats the brain via a port under the scalp with a synthetic form of the missing enzyme. CLN2 patients come to CHOC every two weeks for the four-hour infusion to keep the drug working effectively.

Largest infusion center in country

CHOC since has grown into the largest Brineura infusion center in the country and the second largest in the world. Kids from all over the United States have come to CHOC for Brineura treatment since it first was offered in March 2017 following a three-year effort by Dr. Raymond Wang to get the green light for CHOC to become the second infusion site in the U.S.

Dr. Raymond Wang, director of the multidisciplinary lysosomal storage disorder program at CHOC

“When a family has a child with a rare disease,” Dr. Wang says, “and if the South Pole were the only place that was offering treatment, the family would find a way to get there. Those are the lengths that a rare disease family would go to help their child.”

CHOC now has treated 13 Brineura patients, the latest being 3-year-old Max Burnham, whose parents having been making the trek to Orange every two weeks from their home in the Bay Area since Max’s first infusion on Feb. 8, 2021.

CHOC’s Brineura program underscores its growing reputation as a destination for kids with rare diseases.

Recently, CHOC specialists started treating a 3-month-old with Hurler syndrome, another serious and neurodegenerative condition. The family drove across the country because CHOC is the only site in the world that has a clinical trial of gene therapy for their son’s condition.

Because the family will be staying at CHOC for at least through April 2021, a team of three study coordinators — Nina Movsesyan, Harriet Chang, and Ingrid Channa – helped the family get settled in at an Airbnb in Irvine.

“Our case managers and financial coordinators were crucial in getting the infant’s weekly enzyme therapy approved within a week’s time, and our excellent nurse practitioner, Rebecca Sponberg, asked purchasing to procure the enzyme drug for the baby on two days’ notice,” notes Dr. Wang, a metabolic specialist and director of CHOC’s Campbell Foundation of Caring Multidisciplinary Lysosomal Storage Disorder Program.

Dr. Wang says CHOC became an active site for the RGX-111 gene therapy after treating a child from a family in Indio in 2019. Another 14-year-old girl from West Virginia has received the same treatment.

“All of these cases wouldn’t be possible without the awesome teamwork from team members, who all are dedicated to the mission of CHOC,” says Dr. Wang. “I think it’s pretty remarkable that people from all over the country are coming here for clinical care and research studies because of our expertise and what we offer them: hope for their beloved children.”

A true team effort

For the Brineura infusions, which are administered by pediatric neurosurgeon Dr. Joffre Olaya, CHOC metabolic specialists work closely with providers in CHOC’s Neuroscience Institute.

Dr. Joffre Olaya, pediatric neurosurgeon at CHOC

Susan See is nurse manager of CHOC Hospital’s neuroscience unit, where the patients receive their infusion and stay for care afterward.

“We quickly put together a comprehensive program that really treats the patient and family not just medically, but also from an emotional support standpoint,” she says.

Batten disease especially is terribly cruel because its symptoms typically hit just as parents are starting to enjoy their child reaching several developmental and cognitive milestones such as walking and talking.

Untreated, the disease eventually takes all that away.

“What makes them who they are gets rapidly erased,” says Dr. Wang. “As a practitioner, it’s hard. I’m trying to imagine being in the shoes of a parent knowing this is going to happen to their child.”

For Bekah Bowman and her husband, Daniel, the diagnosis for Titus and, two months later, Ely, was like being on a high diving board and being shoved off and belly flopping into the water.

“We had to learn what little control we have in life,” Bekah says.

The Bowmans worked closely with Dr. Wang to get the Brineura clinical trial launched at CHOC.

“When we met Dr. Wang,” Bekah says, “he told us: ‘We don’t have the answers for you right now, but I want you to know we’re going to keep fighting and we’re not going to give up.’”

Brineura families form tight bonds with their team at CHOC, which includes eight nurses who have been trained to care for them: Allison Cubacub, Genevieve Romano-Valera, Anh Nguyen, Melissa Rodriguez, Kendall Galbraith, Annsue Truong, Monica Hernandez and Trisha Stockton.

Some families, including the Bowmans, have moved on from the program at CHOC when Brineura infusions became available near their hometowns. The Bowmans returned to their native Idaho outside Boise in October 2018. Leaving CHOC was difficult.

“That was one of the hardest goodbyes we had to say,” Bekah says.

All Brineura patients receive the transfusions on the same day – something unique to CHOC, See says.

“We learn what is unique about each patient and we become very close to them,” she adds. “It really reminds us why we said yes to nursing. What we thrive on is being able to care for families.”

Quick to action

Laura Millener, the mother of Max, CHOC’s latest Brineura patient, says she selected CHOC for Max’s condition, diagnosed in January 2021, because he needed to be treated right away. She first spoke to Dr. Wang on Jan. 11, and Max got his first infusion less than a month later.

“You could just tell how much he cares about his patients,” Laura says of Dr. Wang.

Max Burnham had his first infusion at CHOC on Feb. 8, 2021

Says Dr. Wang, who has three children ages 10 to 18: “I count [my patients and my families] as my extended family, and I want the best for all of them.”

Laura and her husband, Matthew, a C-5 pilot in the U.S. Air Force, will be relocating to Quantico Marine Base in Virginia this summer from Pleasantville, Calif. Max, who has a 6-year-old sister, Ella, will continue his Brineura infusions at Children’s National Hospital in Washington, D.C.

“I don’t want to leave CHOC,” Laura says. “CHOC has done such an amazing job of making this easier on us. I am so grateful for the team.”

Dr. Wang says the Brineura infusions have made it possible for the patients to maintain meaningful interactions with their parents and siblings – despite having such conditions as, in Ely’s case, blindness.

Ultimately, the goal is for CHOC to be considered for a gene therapy clinical trial aimed at giving brain cells the ability to produce the missing enzyme by itself so Batten disease patients wouldn’t have to receive infusions every two weeks. Dr. Wang says such a trial could happen this fall.

“If there’s anything in my power I can do to help these families,” says Dr. Wang, “I’m going to try to make it happen.”

Learn more about CHOC’s robust metabolic disorders program.

Clearing pediatric patients for sports after COVID-19: Tips for pediatricians

While there is less data about pediatric patients, emerging evidence shows that people infected with COVID-19 are at increased risk for myocarditis. Because of this, it is important that pediatricians appropriately evaluate patients before they are cleared to return to play as sports resume after a prolonged COVID-prompted off season.

Here, Dr. Matthew Kornswiet, a sports pediatrician in the CHOC Primary Care Network, and Dr. Chris Koutures, a CHOC pediatrician and sports medicine specialist, share what providers ought to know when clearing young athletes or students for a return to sports following a COVID-19 infection.

Patients should be seen in the provider’s office for an in-person, formal evaluation and physical exam to determine clearance, recommend Drs. Kornswiet and Koutures. The following decision tree can aid in triaging patients, as well as providing consistent patient care. This decision tree is applicable to middle and high school athletes, as well as to those who compete in high-exertion activities and to other patients on an individual basis.

The California Interscholastic Federation recommends that if a patient’s infection was over three months ago, they had an asymptomatic, mild or moderate illness, and the patient has regained fitness or is back to full activity without symptoms, then they can return to sports as long as they have an active/recent preparticipation physical exam.

Once an athlete is cleared for a return to sports, Drs. Kornswiet and Koutures recommended that they go through a gradual and step-wise return to play. This is similar to the return-to-play protocol for concussions, and should be performed under the supervision of a physician and athletic trainer, if possible.

Each phase should last at least 24 to 48 hours and should not cause return of symptoms. If the athlete/student experiences a return of symptoms or develops unexpected fatigue, dizziness, difficulty breathing, chest pain/pressure, decreased exercise tolerance, or fainting, then they should stop their return progression and return to their physician for further evaluation.

These protocols are not substitutes for medical judgment, and additional queries should be directed to pediatric cardiologists or sports medicine specialists.

Following are more general return-to-sports guidance for parents and coaches:

Refer a patient to CHOC Cardiology

Virtual pediatric lecture series: A whirlwind tour of the current state of AYA cancer

CHOC’s virtual pediatric lecture series continues with “A whirlwind tour of the current state of adolescent and young adult cancer.”

This online discussion will be held Wednesday, April 14 from 12:30 to 1:30 p.m. and is designed for general practitioners, family practitioners and other healthcare providers.

Dr. Jamie Frediani, pediatric oncologist at CHOC’s Hyundai Cancer Institute, will discuss several topics, including:

  • Unique challenges to adolescent and young adult (AYA) cancer patients, including accessing optimal treatment
  • Helping AYA patients navigate the health care system as a primary care provider
  • Supporting the AYA population during treatment by implementing key tenets of multidisciplinary care in your practice
  • The survival gap seen in AYA oncology patients

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.

CHOC surgeons thriving as productive researchers outside the operating room

CHOC surgeons are known for performing the latest procedures, no matter how complex, in areas including heart, trauma, gastrointestinal, urology and neurosurgery.

Outside the operating room, the seven physicians who make up CHOC’s pediatric general and thoracic surgery team also are excelling in another realm that is critical to CHOC’s mission of developing into one of the nation’s leading pediatric healthcare systems —

Research.

In the last five years, the surgery team has published some 35 papers, bolstered by recent new hires and a renewed commitment to dramatically transform CHOC from its roots as a community children’s hospital to an academic institution.

“It’s unprecedented in the history of pediatric surgery at CHOC – there’s no question about that,” pediatric surgeon Dr. Peter Yu says of the volume of research going on with his team.

“We are proud to be one of the most academically productive divisions at the hospital, and we have some impressive partners in other specialties here,” Dr. Yu says. He calls fellow pediatric surgeon Dr. Yigit S. Guner  the leader behind the recent flurry of research.

“The number of papers that we’ve published in the last several years would be something to be proud of at any children’s health system, even the ones that have a longstanding academic tradition,” Dr. Yu says.

Dr. Yu also cites two more recent hires as critical players: John Schomberg, PhD, a biostatistician in nursing administration and trauma, and Elizabeth Wallace, MPH, a clinical research coordinator in the trauma department in Research Administration.

Schomberg has been instrumental in the team’s research efforts, providing statistical expertise to help investigators, both experienced and new to research, formulate and refine their research questions, Wallace says.

“The research team’s accomplishments are due in large part to the progressive leadership of CHOC executives and the CHOC Research Institute for prioritizing research and providing support needed to make these research endeavors possible,” she adds.

“Though we rarely think of it when we’re waiting for our child to be seen by their physician, ultimately research is the foundation for providing our pediatric patients with leading, innovative and excellent care,” Wallace says. “This group’s research has potential to inform best practices, policy and advocacy that addresses the needs of our community and to advance pediatric care on a more global level. I’m excited to see what the future brings.”

Dr. Guner says conducting research is a central part of his effort to care for children. “We always strive to provide great care, but research raises the bar on what can be done to help our patients,” he says.

Three general areas

The research being conducted by doctors in CHOC’s pediatric general and thoracic surgery division falls into three general categories: general pediatric surgery, trauma and extracorporeal membrane oxygenation (ECMO), a critical care technology that can be used to bypass a failing heart or lungs.

One trauma study, expected to be submitted for publication in February 2021, looked at legal intervention — any injury sustained from an encounter with a law enforcement officer. While studies have been conducted in adults, none have focused on the pediatric population. Legal intervention as cause of traumatic injury in the pediatric trauma population is infrequent yet reported.

Schomberg, Wallace, Dr. Guner and Dr. Yu were among the researchers who examined the National Trauma Data Bank (NTDB) for health disparities related to legal intervention in the pediatric population.

The team’s key finding: Legal intervention in children disproportionately affects the African American population.

Of the 1,069,609 pediatric trauma patients identified in the NTDB, according to an abstract of their paper, 622 sustained injuries involving legal intervention. When these patients were compared to the general pediatric NTDB, they were more likely to be older, male and test positive for illegal drugs or alcohol.

They were more likely to be African American (44.37% vs 17%), Latino (22.82% vs 15.10%), or Native American (0.96% vs 0.94%).

Mortality was higher in trauma involving legal intervention than in the general pediatric trauma population (4.82% vs 1.11%,), particularly in African Americans (63.33% vs 36.66%). Understanding the issue can hopefully point to more effective strategies to minimize harm while protecting public safety.

Variety of research papers

Several of the pediatric general and thoracic surgery division’s research papers concern congenital diaphragmatic hernias (CDH), a rare birth defect in which a hole in the diaphragm allows the intestines, stomach, liver and other abdominal organs to enter the chest, impairing typical lung development.

In another research project in collaboration with St. Louis Children’s Hospital-Washington University and The Children’s Hospital of Philadelphia, Dr. Yu looked at the incidence and length of stay for pediatric appendicitis during the initial days of the COVID-19 pandemic.

Dr. Yu is also currently working on a model to predict a rare traumatic injury referred to as blunt cerebrovascular injury (BCVI) and an interactive web app that would allow a trauma team to better understand their patient’s risk for BCVI.

Dr. Mustafa Kabeer, a CHOC pediatric surgeon, has published work in trauma and neonatology as well as basic science research on the stress response following splenectomy in mice. Dr. Kabeer’s most notable work includes research on the pioneering use of newborn umbilical cords to repair congenital birth defects such as gastroschisis.

Dr. David Gibbs, director of trauma services at CHOC, has been a staunch advocate for research, pushing CHOC to become the leading institution for pediatric trauma research in Orange County while pursuing a Pediatric Level 1 Trauma Center designation.

Dr. Gibbs’ published work includes developing prediction models in the trauma population to better understand prolonged hospital stays and return visits to the emergency department, revisiting the practice of X-rays post chest tube removal, and trauma case reports.

A true team effort

Dr. Yu  says the surgeons in his division work as a team on many research projects.

“Just like you can be a great surgeon,” he explains, “if you go in to operate and you don’t have any anesthesiologists or a nurse or a scrub tech to hand you instruments, there’s only so much that you can do by yourself.”

Dr. Guner says he enjoys understanding as much as possible about the diseases that he treats, and that research is an ideal vehicle to deepen that understanding.

“I really respect people who come here to work and take care of patients – it’s a vital service that people need,” he says. “In addition, I’ve always felt that I really wanted to know about the diseases themselves. Conducting research allows me to contribute to my field and to society at large.”

Another important aspect of research, Dr. Guner adds, is that it helps residents.

“Part of their training is more than taking care of patients,” Dr. Guner explains. “Learning and research go hand in hand. Research makes residents more motivated to work with their mentors and gives them something to do in the early stages of their career by increasing the energy they devote to academia.”

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CHOC telehealth visits continue at a rapid pace

As the world surpasses the one-year anniversary of the COVID-19 pandemic, the resulting rapid rise of telehealth continues to propel forward in 2021, with CHOC patients consistently reporting a 90-plus percent satisfaction rate in surveys, hospital officials say.

Virtual visits with a CHOC provider via a smart phone, tablet, or computer not only are here to stay, but are expected to continue growing at a rapid pace – not just in Orange and surrounding counties, but nationally and globally.

The rapid growth and acceptance of telehealth is a definite sign that consumers want easier access, convenience, and comfort as they seek medical care,” says Dr. Michael Weiss, vice president of population health. “CHOC is committed to providing the highest quality and service to fulfill these needs.”

Kathleen Lear’s son, Matthew, 18, was diagnosed with intractable epilepsy when he was 6 and the last 12 years have been a non-stop roller-coaster, she says.

In mid-February 2021, Matthew became the first epilepsy patient at CHOC to undergo a procedure called Deep Brain Stimulation (DBS), in which electrodes were placed in his brain to help reduce his seizures by sending electrical currents to jam his malfunctioning brain signals. In another first, CHOC recently conducted DBS on a patient with the movement order dystonia.

Kathleen and Matthew recently have had neurology and hematology telehealth visits with Dr. Joffre Olaya and Dr. Mary Zupanc, as well as a consultation with Dr. Antonio Arrieta and Dr. Loan Hsieh.

“I think it was amazing that we even could have a virtual neurology visit,” Kathleen says. “The doctors were able to assess a lot by watching Matthew walk and run and touch his finger to his nose.”

Kathleen says the telehealth session was especially helpful because her husband is working from home during the pandemic and he, too, could participate.

“It was really nice,” she says.

Growth projections

According to Fortune Business Insights, the global telehealth market size was valued at $61.4 billion in 2019 and is projected to reach $559.52 billion by 2027, exhibiting a compound annual growth rate (CAGR) of 25.5 percent during the forecast period.

The U.S. telehealth market size was valued at $9.5 billion in 2020, up a whopping 80 percent over 2019, and is expected to exhibit a CAGR of 29 percent between 2020 and 2025, according to market research firm Arizton.

Quick pivot

At CHOC, a lot of teamwork was necessary for the quick pivot that began in the early days of the pandemic, says Lisa Stofko, CHOC’s telehealth manager.

“There is a difference between a two-way video and telehealth,” Lisa says. “We are committed to making telehealth a seamless experience for both patients and providers, and ensuring that it replicates the safe, quality care patients are used to receiving in person.”

The information services department, Lisa says, worked feverishly to get technology set up so clinicians could use video conference software that came with extra layers of protection that allowed them to safely consult with patients virtually.

Training videos were delivered to more than 700 providers so they could replicate the in-person visit as closely as possible, Lisa says. And a 20-member steering committee was established from key stakeholders from across CHOC’s health system — including administrative executives and physicians — to further improve the telehealth experience and capabilities at CHOC.

In December 2020, Dr. Robert Hillyard, CHOC neonatologist, and Dr. Kenneth Grant, CHOC pediatric gastroenterologist, began serving as co-medical directors of CHOC’s telehealth program, while each retaining existing clinical responsibilities.

Some statistics

Dr. Weiss tracks telehealth visits daily.

From March 2020 through April 2020, CHOC telehealth visits zoomed to 14,457, from 2,233 prior to the pandemic, he says.

Since the pandemic began through early February 2021, CHOC telehealth visits totaled 95,757. The average number of telehealth visits per month during COVID-19 have remained in the 8,500 range.

Telehealth visits at CHOC have grown dramatically in both primary and specialty care.

In January 2021, the most visits (370) in CHOC’s Primary Care network were recorded at Orange Primary Care, followed by Pediatric and Adult Medicine (338), Clinica Para Ninos (286), Breathmobile (176), Los Alamitos Pediatrics (149) and Boys and Girls Clinic Santa Ana (92).

In January 2021, the most visits (1,498) in CHOC’s Specialty Care network were recorded at Providence Speech and Hearing Center, followed by endocrinology (1,017), mental health (991), gastroenterology (893), neurology (481), pulmonary (450), the Thompson Autism Center (407), and outpatient rehabilitation (301).

Kathleen says she looks forward to continuing Matthew’s treatment at CHOC – in person when possible, and virtually, too. She finds telehealth visits especially useful when doctors want to go over test results.

“There’s definitely a time and a place for it,” Kathleen says. “And I just feel so privileged to have CHOC so close to us.”

Learn more about telehealth at CHOC

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