CHOC intraventricular hemorrhage and hydrocephalus patient accepted to medical school

Twenty-four years ago, Dr. Michael Muhonen, who had started his pediatric neurological practice at CHOC only a year earlier, treated a baby born with what essentially was a traumatic brain injury.

The infant boy, born at 23 weeks and weighing 3 pounds, suffered an intraventricular hemorrhage – bleeding inside and around the ventricles, the spaces in the brain containing the cerebrospinal fluid.

It was a grade-four bleed – the worst. Dr. Muhonen gave the boy an 80-percent chance of having some form of serious neurological dysfunction such as cerebral palsy. The newborn also had hydrocephalus, which required a shunt to be implanted in his head to drain excess fluid to his abdominal cavity.

That baby, Eric Rhee, is now 24.

Recently, over coffee, Eric talked about his plans this year: He’s moving to Bethlehem, Penn., to attend the Temple/St. Luke’s School of Medicine.

“Wow, I would never have predicted this,” Dr. Muhonen says, with a wide smile. “I’ve seen many grade-four bleeds in infants, but I don’t recall any who have succeeded to the degree that Eric has.”

Eric, who since summer 2019 has been working as a medical scribe at CHOC and, with Dr. Muhonen, on a research paper on shunts like the one that will stay in his body for the rest of his life, is a bit surprised himself.

Of being accepted into medical school, Eric says: “I just want to be consistent, reliable, and efficient at what I do, learning from superiors who spent years upon decades refining their craft.”

Dr. Muhonen attributes his remarkable recovery, in part, to the high-quality neonatal care that Eric received during his three-month stay in CHOC’s NICU as an infant.

“The odds were extremely stacked against him,” Dr. Muhonen says. “He’s unique. It speaks to the kind of person he is that he’s been able to graduate from high school and UC Berkeley with honors and go on to medical school. I’m humbled that I could be a minor part of his journey.”

Dr. Michael Muhonen

Shunts like the one Eric has for his hydrocephalus typically get replaced every five years due to corrosion and other issues. Eric had his replaced only once when he was a child, and it wasn’t until December 2016 when he had to have it replaced again. Dr. Muhonen, who has seen Eric regularly over the years, consulted with neurosurgeons at a hospital near UC Berkeley before the decision was made to replace the entire shunt.

After graduating from UC Berkeley in 2019, Eric started working at CHOC while studying for the MCAT.

“One of the things I liked about CHOC growing up, I always felt like I was at home,” Eric says. “Even though I felt like I was in a very vulnerable place, I was always at ease.

“They’re kind and really good at what they do,” he says of CHOC clinical and related staff. “I want to be like that, too. Everyone at CHOC is a master of their own craft and essential to accomplishing a bigger objective. Every person is important.”

Eric took the MCAT in January 2020 and found out in December that he got accepted into Temple/St. Luke’s School of Medicine.

Dr. Muhonen has no doubts Eric will make a great doctor.

“It will be a physician like Eric who will make a great discovery,” he says. “Instead of relying on a shunt to treat hydrocephalus, maybe he’ll make a discovery to obviate the need for a shunt and have the brain internally drain water on its own somehow.”

Says Eric: “I just want to be trustworthy and dependable while making meaningful connections and having an impact on others.”

Learn more about CHOC’s Neuroscience Institute.

Boy, 9, showing great progress after deep brain stimulation procedure at CHOC

Ryder Montano is the third and youngest CHOC patient with a movement disorder to undergo a procedure called deep brain stimulation (DBS), which is designed to ease involuntary movements by sending electrical currents that jam malfunctioning brain signals. CHOC treated its first DBS patient in late 2020.

Ryder is also among CHOC’s dramatic DBS success stories.

The procedure is being championed by DBS pioneer Dr. Terence Sanger, a physician, engineer, and computational neuroscientist and vice president, chief scientific officer at CHOC, and vice chair of research for pediatrics at the UCI School of Medicine. The DBS team also includes Dr. Joffre E. Olaya, CHOC’s functional restorative neurosurgeon, who implants the electrodes, as well as collaborating partner Dr. Mark Liker, a neurosurgeon at CHLA.

In January 2021, Ryder underwent surgery at CHOC to replace four electrodes in his brain that help ease the severity of a movement disorder, post-pump chorea, that he developed after he had open-heart surgery at age 2 ½. Since those four electrodes were replaced, he has shown remarkable improvement, Ashley says.

“It’s just incredible and mind-blowing that this is happening because of DBS,” she says.

Ashley says Ryder’s clinical team at CHOC had expectations that were lower than what the outcome turned out to be. They thought his condition would worsen before it got better.

But in February 2021, for a post-op appointment, Ryder walked into Dr. Sanger’s office for the first time by himself. He also stood on a scale and sat in a chair without assistance.

Ryder was diagnosed with Williams Syndrome and a heart defect at age 2. After undergoing open-heart surgery, he developed post-pump chorea, which causes involuntary twitching or writhing.

Now, Ryder also can walk independently, feed himself, and sit down and watch a movie. He is limited verbally and uses an AAC (augmentative and alternative communication)device to say simple things. 

“I’m so happy to see how well Ryder is doing,” Dr. Olaya says. “This procedure has tremendously improved his quality of life.”

Answers at age 2

Ryder was born full term on Sept. 29, 2011. He had a heart murmur, but his mother, Ashley, didn’t get a lot of answers from Ryder’s cardiologist until their son was 2. That’s when doctors at another hospital determined that Ryder had been born with supravalvar aortic stenosis (SVAS) and Williams Syndrome.

SVAS, a heart defect that develops before birth, is a narrowing of the large blood vessel that carries blood from the heart to the rest of the body.

Williams Syndrome is a rare genetic condition that affects many parts of the body. It is caused by missing more than 25 genes from a specific area of chromosome 7. Williams Syndrome can cause mild to moderate intellectual disabilities, unique personality traits, distinctive facial features, as well as heart and blood vessel problems.

Ryder’s Williams Syndrome led to him undergoing open-heart surgery at 2 ½, which in turn led to post-pump chorea, which causes involuntary twitching or writhing.

“He was walking and talking and drinking from a cup prior to surgery,” Ashley recalls. “He woke up one day and wasn’t able to sit up or hold his head up or make eye contact. He made weird movements. I first thought it was withdrawal symptoms from the medications he took for the surgery.”

Ryder first saw Dr. Sanger in 2016 at CHLA (Dr. Sanger came to CHOC in March 2020). Ryder’s first DBS surgery was in 2017, the same year he got four permanent electrodes. One of the leads got entwined with a growing bone, which prompted the January 2021 surgery to replace all four electrodes.

The perfect team for Ryder

Ashley and her husband, Al, are determined to provide Ryder with the best quality of life possible. His DBS treatment at CHOC, they say, has made a huge difference.

“Ryder and Dr. Sanger were a perfect match,” Ashley says. “I’m very thankful for DBS and Dr. Sanger. I feel he thinks outside of the box. There are so many other neurologists who think, ‘Oh, let’s just load (the patient) up with medication.’ But Dr. Sanger wants to get at the root of the problem and fix it.”

Ryder loves to go to the beach and on nature walks. At the beach, he will roll into the shallow waters on a stroller with large, fat wheels.

Dr. Olaya stressed the importance of teamwork in treating Ryder and other DBS patients at CHOC.

“We are so fortunate to have the resources and the team here at CHOC to offer DBS treatment to patients with moving disorders,” he says. “Jennifer MacLean, Ryder’s nurse practitioner, is very involved with his care and treating other DBS patients as well. It’s not just one person. It really is the nurses, the OR staff – it’s a lot of people collaborating.”

“I’m so thankful for everybody at CHOC,” Ashley says. “I just feel that without the entire team, none of this would be possible for Ryder or for really anybody. It makes me so happy to know we’ve not only improved Ryder’s life so much, but we’re helping improve other kids’ lives, too. Dr. Sanger goes the extra mile and it’s so amazing to think, yes, that’s our doctor.”

Ashley says Ryder has worked very hard to get to where he is today.

“We’ve all worked hard together to get to this place and give Ryder the validation to show him how much we realize how hard he’s been working,” she says. “I know it’s defeating for a kid who understands but can’t communicate well, but he’s working very hard.”

Learn more about CHOC’s Neuroscience Institute.

CHOC’s growing thyroid surgery program can compete with the busiest centers when it comes to favorable outcomes, research shows

When Dr. Kevin Huoh arrived at CHOC in September 2013, the hospital wasn’t doing a lot in the way of thyroid surgeries and instead was referring out most cases.

A highly regarded pediatric otolaryngologist, Dr. Huoh has a special interest in thyroid surgery, especially thyroid cancer surgeries. So, working with endocrinologists at CHOC, he spearheaded a multi-disciplinary thyroid surgery program that steadily has grown since then.

Now, in a recently published research paper, Dr. Huoh and co-author Dr. Himala Kashmiri, a CHOC endocrinologist, have shown that the growing program at CHOC enjoys favorable outcomes comparable with those found at the nation’s largest-volume pediatric thyroid surgery centers.

“Other research papers and guidelines say in order to have the best outcomes for thyroid surgery, you need to do 30 surgeries per year,” Dr. Huoh says. “Fortunately, pediatric thyroid surgery is fairly uncommon. This makes it difficult for many newer thyroid surgery programs to achieve these numbers. Our study shows outcomes similar to those at higher volume centers.”

In the paper, published in early February 2021 in the International Journal of Pediatric Otorhinolaryngology, Drs. Huoh and Kashmiri studied 31 patients who underwent thyroid surgery at CHOC between 2014 and 2020. The numbers have grown from two to three a year to nearly nine, and are expected to continue to increase, Dr. Huoh says.

Key finding in the research paper: The 31 CHOC thyroid surgery patients, who ranged in age from 8 months to 20 years, experienced a rate of complications comparable to larger-volume pediatric thyroid surgical programs.

“Recent publications have advocated that patients in need of thyroid surgery should be referred to high-volume surgical centers, asserting that high-volume centers experience fewer complications,” the paper states. “In contrast to recent publications, our study demonstrates that low-volume and intermediate-volume thyroid surgery centers can achieve comparable results.”

A key reason why, according to the paper, is having a multidisciplinary team of pediatric otolaryngologists and endocrinologists, such as the team at CHOC.

Kids at greater risk of cancer

The thyroid is a gland that makes and stores hormones that help regulate the heart rate, blood pressure, body temperature, and the rate at which food is converted into energy.

The prevalence of thyroid masses in children is much lower compared with adults. But such masses in children tend to carry a greater risk of harboring malignancy compared with their adult counterparts. And thyroid surgery in the pediatric population is associated with a higher rate of complications than adult thyroid surgery.

Thyroid cancer is on the rise around the world, including in adolescents, Dr. Huoh notes.

“We saw a definite need for this program at CHOC,” he says.

Dr. Huoh works very closely with Dr. Kashmiri, a pediatric endocrinologist, in CHOC’s thyroid cancer program.

“When I first started here in 2015, as director of the thyroid cancer clinic program here at CHOC, our typical workflow was to find ENT surgeons for our patients in the community of Orange County or even Los Angeles,” Dr. Kashmiri says. “However, rather quickly as a pediatric endocrinologist who puts the patient first, I gained accelerated confidence with Dr. Huoh’s expertise, interpersonal skills, and poise to handle our simple-to-complex neck surgeries.

“This has been a game-changing experience for us to have a surgeon who we trust and value to take care of patients with excellent outcomes whom we recommend fully without any hesitation. I would just like to say thanks to Dr. Huoh for bringing his passion and commitment to CHOC and the children we serve.”

Scary experience, good outcome

In November 2019, Molly Pearce noticed a lump on the left side of her throat.

Then 13, Molly ended up at CHOC after a friend of her mother, Jacqueline, recommended going there and after Jacqueline did a lot of research.

“Dr. Huoh’s name kept coming up,” Jacqueline says.

Molly Pearce had her thyroid removed by Dr. Huoh in 2020 after discovering a lump in her neck.

 The two met with Dr. Huoh in January 2020.

“From the second we met,” Jacqueline says, “we knew we were going to love him. He’s got a great bedside manner. He’s reassuring. He’s thorough. He answered all our questions. He spent a lot of time with us, which isn’t always the case with busy surgeons. We definitely got the impression that he cared a lot.” 

In February 2020, Dr. Huoh removed one half of Molly’s thyroid.

The tumor was encapsulated, but pathology reports after surgery turned up concerning cancerous cells in the mass. Dr. Huoh went ahead with a second surgery, removing the second half of Molly’s thyroid in April 2020.

“It was a very scary time, especially during the pandemic,” Jacqueline recalls, “but CHOC offered us a broad range of resources should we want to reach out and get some support. COVID-19 added an extra layer of fear. I have to say we felt comfortable in terms of the level of cleanliness. Molly had to do COVID tests. I really feel it was a challenging time kicked up to a much more challenging time, and we still felt comfortable and safe and well cared for.”

Jacqueline praises Dr. Huoh’s skill as a surgeon.

“A plastic surgeon could not have done the incision as well as he did,” says Jacqueline, who explained that only a faint pink incision line remains on Molly’s neck.

“You wouldn’t even know she was worse for the wear,” Jacqueline says. “Everything about the care we got at CHOC, from pre-registration to when we got to the hospital, to the post-op follow-ups, was exceptional.”

With regular blood work and ultrasounds, Molly continues to be under the continuous care and careful watch of Dr. Kashmiri.

“He has a great way of communicating and empathizing with his patients in a comfortable setting,” Jacqueline says. “We know we are in good hands. He has truly been a blessing to us on our journey.”

Molly now is 15. She will need to be on a thyroid supplement the rest of her life, but says she feels great.

“I feel good but sometimes feel a phantom thing,” she says. “I feel like my thyroid is still there but it’s not. Overall, I feel amazing.” 

Molly, a freshman at Dana Hills High School who loves beach volleyball and yoga and is a member of the National Charity League, says she appreciates the personal touches CHOC provided went she went in for her surgeries.

Ties to nuclear medicine program

Dr. Huoh notes that some patients need radioactive iodine treatment after thyroid cancer surgery. Such treatment requires a nuclear medicine program. It’s fortuitous, he says, that construction is under way on space that will house CHOC’s first nuclear medicine program.

The new space, which totals some 4,000 square feet, is scheduled to open in fall 2021 in the Bill Holmes Tower at CHOC’s main hospital campus.

 Its opening will be especially important for patients undergoing thyroid surgery who now must go to other hospitals for radioactive iodine treatment, says Dr. Hollie Lai, a radiologist who will be in charge of CHOC’s nuclear medicine program.

“This will be a huge benefit to patients,” Dr. Lai says. “Many of our thyroid cancer patients now have to go to adult facilities.”

Such treatment involves giving patients medicine, usually orally, that has radiation in it that zaps away remnants of cancerous tissue following surgery. Thyroid surgery patients will be one part of CHOC’s nuclear medicine program, which will provide full-service therapies in addition to research.

She praises Dr. Huoh’s skills.

“He’s a great surgeon who relates very well to his patients,” Dr. Lai says.

Dr. Huoh has big hopes for CHOC’s thyroid surgery program.

“Our goal is to be one of those centers doing 30 or more surgeries a year,” he says. “It’s nice to be able to show great outcomes on our way to becoming one of the high-volume pediatric surgery thyroid programs.”

Learn more about CHOC’s otolaryngology program.

Read another recent example of research conducted by Dr. Kevin Huoh.

Surgeon, NICU nurse say their lifesaving professions have made them better fathers

The patient was 6, a boy – the same age as a pediatric general and thoracic surgeon Dr. Peter Yu’s son, “P.K.”

The patient’s kidney cancer had spread to his lungs.

When Dr. Yu recently performed surgery on the boy, he caught himself thinking of P.K., whose full name is Peter Kai Yu – a ball-sport-loving kid with grown-up tastes in food such as sushi.

“When I looked at him,” Dr. Yu recalls of the patient, “I saw P.K. I thought, ‘What would I do for my son?’ And I would do anything for him.”

With Father’s Day this Sunday, Dr. Yu and Gene Paredes, a neonatal intensive care unit (NICU) nurse at CHOC at Mission Hospital, reflected on the challenge of balancing their demanding and often emotionally exhausting work with fatherhood.

Both Gene and Dr. Yu are married with three children.

Both say their professions make them better fathers, and both say having kids makes them better at what they do.

Ample time with children

Gene has been a father almost as long as he’s been a nurse.

His son, Gabriel, is 20. Gene has been a nurse at CHOC for 21 years (23 years overall).

Gabriel is in college, as is his 18-year-old sister, Gillian. Gene’s other daughter, Eliotte, 14, just started high school.

Even though his parents both were nurses, Gene never grew up thinking he wanted to be one, too.

Gene Paredes, a nurse in the NICU at CHOC Mission, and his family

But the Mission Viejo native did just that, joining CHOC in 1999 after completing training for two years in a neonatal intensive care program in Berkeley.

Like his father, who worked three 12-hour shifts per week, Gene has been able to be involved in his kids’ lives because of his work schedule.

“Working three days a week,” Gene says, “I was one of the few dads who were able to be involved in mid-week classroom activities at my kids’ schools. That was kind of rare. You didn’t see a lot of dads there.”

Gene and his wife, Chantelle, who used to teach, decided that the benefits of her being a full-time mom outweighed the challenges of being a single-income family.  

And that decision has paid off.

Over the years, Gene and Chantelle have enjoyed travelling with their children.

They did an RV road trip up the coast to the Pacific Northwest and have been to various national parks and states throughout the U.S. Two years ago, they vacationed in Paris and London.

Gene and his family taking in the sites of England

At CHOC Mission, where for years he was the only male nurse, Gene works throughout the hospital because he has special training in placing PICC (peripherally inserted central catheter) lines, which are used to dispense medications and liquid nutrition. At CHOC Mission, he also performs ultrasound-guided IV placements.

For 2 ½ years, Gene also picked up shifts at CHOC’s campus in Orange in the main NICU and Small Baby Unit.

But he spends most of his time caring for sick babies in the NICU at CHOC Mission.

“I think being in healthcare, you realize there are a lot of things that can go wrong in childhood, such as illnesses and accidents,” Gene says. “I definitely had an appreciation for having healthy children. Knock on wood, I’ve never had to bring any of my kids to the hospital.”

Being a nurse has huge benefits when raising kids, Gene says.

“I approached fatherhood with a lot of confidence,” he says. “I taught my wife how to give our babies a bath. And she never worried about the kids getting sick. She was like, ‘Gene’s got this. He knows babies.’” 

Being a male and a father, Gene brings a unique presence to the NICU.

“A lot of the focus tends to be around the moms and the connection they have with their babies,” he says. “I think me being a male allows fathers to have someone to connect with. I change diapers, I feed the babies – I do all the hands-on things. I like to empower fathers to get in there and get very involved — to make them feel they can be as involved as much as the moms.”

Gene is known throughout the hospital for his calm demeanor in stressful situations.

“As a nurse and father, I hope that my calm energy and presence would bring comfort to parents experiencing the stress and unknowns of their child’s hospitalization,” he says.

On Father’s Day, Gene and his family will host a large afternoon feast with relatives at a favorite park in Dana Point.

“Then we’ll take a sunset walk on the beach,” he says.

Off cooking duty this Sunday

Dr. Yu usually relieves his wife, Jean, of cooking duties on weekends, when he’s off his hectic weekly work schedule that often totals 80 hours.

This Sunday will be different.

“I told him I would cook for him,” Jean says, adding: “He’s a very good cook.”

Being a former clinical nurse, Jean totally gets the demands of her husband’s profession.

“I get what the daily grind is like and things that may come up,” Jean says. “As a family, we try to cherish every moment, even just little things like watching a show together at the end of the day. He can’t make every event, but the kids are very understanding and very aware he’s probably helping out a sick baby or a sick kid, and they don’t hold that against them.” 

Dr. Peter Yu, a CHOC pediatric general surgeon and co-medical director of the Fetal Care of Southern California, and his family

The two met in the surgical ICU at the medical center at UC San Diego School of Medicine, where Dr. Yu completed his internship, residency, and research fellowship in general surgery. Jean was a surgical ICU and trauma nurse there, and they met while taking care of a very sick patient.

Married for 11 years, the Yus have three children: Max, 10; Sasha, 8; and P.K. They dated for two years before marrying. Dr. Yu proposed to Jean in Nigeria while both were on a surgical mission. 

Almost every day, Dr. Yu awakes at 4:30 a.m. to hit the pools. He’s an avid swimmer who will compete in the U.S. Masters Swimming National Championships in Greensboro, N.C., on July 26.

Max also loves to swim, and is a voracious reader.

“He’ll read a Harry Potter book in one day,” Dr. Yu says.

Sasha loves to dance and is a huge avocado fan.

Dr. Yu hits the sack around his kids’ bedtime.

“Usually 8:30 – 9 p.m. is really pushing it,” Jean says.

Dr. Yu says once he’s at home, he strives to be present with his children. Things have been even more hectic than usual at work recently, with the just-opened Fetal Care Center of Southern California, of which Dr. Yu is co-medical director.

“Our family works very well,” Dr. Yu says. “The credit really goes to Jean. She’s the chief operating officer of our family. I am so blessed to have her. She really allows me to work. Being a nurse, she knows how important it is for me to take care of these kids (at CHOC). She never gives me grief when I have to work, and that’s huge.”

Dr. Yu has been at CHOC for six years. Jean worked at CHOC for two years in the post anesthesia care unit (PACU).

“Jean was an amazing nurse,” Dr. Yu says. “I think she could have been a high-level nursing leader, but she sacrificed her career to follow me.”

Hospital work lends perspective to mishaps at home, such as a scraped knees, Jean says.

“Things that happen at hospitals can be completely life-changing for families,” she says. “So, when things happen at home, we don’t get too alarmed.” 

Dr. Yu and his son take it to the hoop with authority

Dr. Yu, whose parents emigrated to the United States in the 1960s, was born in America, and spent most of his early years in St. Louis, Mo. He has an older brother, David, also a physician, who adopted a boy from China who now is 10.

Dr. Yu says he became sold on California after attending Stanford University as an undergraduate, majoring in psychology.

It’s a good thing Dr. Yu has a ton of energy. He will need it to continue his balancing act of caring for sick and injured kids at CHOC and tending to his three young kids at home.

Says Dr. Yu: “You have to be present in the operating room, and you have to be present for your family.”

Rapid Whole Genome Sequencing continues to provide answers and hope for parents of critically ill children with rare diseases

If a Major League Baseball player were to step up to the plate 150 times and get a hit 76 times, his batting average would be an unthinkably torrid .507. 

When it comes to identifying genetic causes for some of the rarest and serious diseases in children, CHOC has put up numbers that even Mike Trout couldn’t dream of achieving. 

Since July 2017, CHOC has ordered the comprehensive and cutting-edge test of rapid whole genome sequencing (rWGS) on 150 patients, with 76 of them getting a precise diagnosis that, in many cases, has resulted in life-changing care. 

“We took what could have been a diagnostic odyssey for these patients and families and cut it down from weeks, months, and sometimes years to, in some cases, only three days,” says CHOC pediatric intensive care unit medical director Dr. Jason Knight, part of an informal leadership team that oversees treatment of critically ill kids with rare diseases in the NICUPICU and CVICU. Other ICU physician team leaders include Dr. Adam SchwarzDr. Juliette Hunt and Dr. John Cleary

CHOC’s rWGS research program was championed by the late Dr. Nick Anas, CHOC’s former pediatrician-in-chief who was director of pediatric intensive care and a beloved figure at the hospital. Dr. Anas, who started at CHOC in 1984, died on April 3, 2018. 

Dr. Anas’ vision for the rWGS research program continues to be realized with successful patient outcomes, from the 2019 diagnosis of an infant girl with the extremely rare cardiac condition Timothy Syndrome to, more recently, a baby boy – Oliver Marley – with a genetic disorder that has been detected in only 10 children worldwide. 

“The CHOC team believed in Oliver – they loved him and took care of him and saw worth in him,” says Caroline Marley of her son, who turns 10 months old this May and was cared for by CHOC clinical teams during two stays, once in the NICU and the second time in the PICU. 

“They told me, ‘We want you to take your baby home,’” Caroline says. 

Testing began in 2017 

Each of us has some 22,000 genes in our bodies that dictate things ranging from the color of our hair to whether we are tall or short. Genes also produce the proteins that run everything in our bodies. Although individually rare, there are more than 6,200 single-gene diseases. RWGS is the technology that, with just a teaspoon of our blood, allows us to look at all the genes in our cells.  

At CHOC, rWGS testing became prominent with the launch of Project Baby Bear in fall 2018. CHOC was among five hospitals to participate in that program, led by Rady Children’s Institute for Genomic Medicine (RCIGM) in San Diego. RCIGM has a lab that runs sequencing. 

“To have (the RCIGM) close by and to be a close partner with them has been great,” Dr. Knight says. “We are way ahead of many other pediatric hospitals in this area. It’s a great success story, and something I’m really glad to be a part of.” 

A total of 45 CHOC patients got tested through Project Baby Bear, a $2-million state program for critically ill infants age 1 or younger who were enrolled in Medi-Cal. Of those 45 patients, 55.6 percent – 25 children – were able to have their rare diseases properly diagnosed, says Dr. Neda Zadeh, a CHOC medical geneticist who was involved with setting up CHOC’s rWGS program with Dr. Anas and who has seen most of the 150 kids tested thus far. 

CHOC actually began ordering rWGS testing on patients the year before in a partnership with RCIGM and Illumina, a leading developer and manufacturer of life science tools and integrated systems for large-scale analysis of genetic variation and function. In that 2017 program, 82 CHOC patients were tested with a 47.6 percent positive diagnosis rate, says Ofelia Vargas-Shiraishi, a senior clinical research coordinator in critical care/neonatology research at CHOC. 

CHOC has paid for an additional 23 children to undergo rWGS testing outside of the now-completed Ilumina and Project Baby Bear programs, and continues to have funding on a case-by-case basis, says Dr. Schwarz. 

“In the long run,” Dr. Schwarz says, “we’re saving money by avoiding expensive workups.” 

Adds Dr. Knight: “For a lot of these families, having an answer – even one they might not want to hear – is extremely important.” 

For parents like Caroline Marley, the results have been priceless. 

‘Wouldn’t place money on your son’ 

Oliver was born at 33 weeks after a complicated pregnancy for Caroline, who had a partial placental abruption when she was 14 weeks pregnant. Caroline and her husband, Ted, have another son, Charlie, 4, who is healthy. 

Oliver Marley with his older brother, 4-year-old Charlie

Born weighing 5 pounds and 4 ounces, Oliver had bruises over much of his body and had to be intubated a day after birth when he went into respiratory failure. Doctors detected a small brain bleed and noticed that, at 6 days old, both of his middle fingers were contracted. 

“I’ve never seen this before,” a neurologist at another hospital where Oliver was being treated told the Marleys. 

Oliver also had difficulty swallowing. He could move his arms and legs a bit, but he couldn’t open his eyes. 

Doctors suspected he might have muscular dystrophy. 

After other complications, doctors told the Marleys that Oliver’s outlook looked grim and that he may have to be sent to an acute-care facility. 

“We can’t help him,” one doctor told Caroline. “I don’t believe he will ever come home. If I were going to Vegas, I wouldn’t place money on your son.”  

It got to the point where the Marleys felt Oliver wasn’t getting the best care, so they decided to transfer him to CHOC. A nurse at another hospital whom the Marleys knew recommended CHOC.  

“We will absolutely take him,” a CHOC nurse told the Marleys. 

Oliver transferred to CHOC on Aug. 11, 2020. 

At 8 weeks old, Oliver underwent a tracheotomy and was attached to a ventilator. 

“He literally started thriving,” Caroline recalls. “He started growing because he was not working so hard to breathe. You could just see he was doing better.” 

Still without a diagnosis, Oliver went home on Oct. 19, 2020 with a tracheostomy tube and a ventilator.  

He returned to CHOC after he contracted a viral infection. 

Not convinced Oliver had muscular dystrophy, Dr. Schwarz suggested him as a candidate for rWGS.  

Three days later, in mid-November 2020, the Marleys received an answer: Oliver had two extremely rare genetic changes in his AHCY gene that potentially resulted in S-AdenosylHomocysteine Hydrolase (SAHH) deficiency.  

It is an extremely rare condition with less than 30 patients reported in the world and CHOC’s Dr. Richard Chang, a metabolic disorders specialist and  biochemical geneticist, was consulted to confirm the diagnosis. The disease, which affects brain, muscle and liver development, is associated with high blood levels of methionine and extremely high levels of toxic S-AdenosylHomocysteine (SAH) that interferes with vital cellular growth. 

Oliver was put on a delicate protein-restricted diet to limit the production of SAH without causing protein malnutrition, and his condition immediately improved. Other medications were added subsequently to provide nutrients that deficient due to the toxicity of SAH. He has a condition that is identical to a girl in Pennsylvania who was diagnosed at age 3 and later underwent a liver transplant. That girl is now 9. 

Oliver is scheduled to receive a liver transplant soon, Caroline says. 

Expanding access to rWGS testing 

A lawmaker in San Diego, in partnership with Rady Children’s Hospital and Health Center, is pushing for a new law that would expand access to rWGS testing by qualifying it as a Medi-Cal covered benefit for babies hospitalized in intensive care. 

Assembly Bill 114, The Rare Disease Sequencing for Critically Ill Infants Act, not only would expand availability of such testing to more families, but also would reduce state spending by eliminating many unneeded procedures, treatments and longer hospital stays, State Assemblyman Brian Maienschein wrote in a recent op-ed piece.  

“For critically ill infants hospitalized with unexplained rare diseases,” Maienschein wrote, “the opportunity to benefit from a medical miracle has arrived.” 

Caroline Marley sees that miracle daily with Oliver, who now is up to 20 pounds and moving around more. 

“We at CHOC are slowly building a case for early introduction of rWGS into the clinical management of these difficult cases in high-acuity settings to improve lifelong clinical outcomes and quality of life,” says Brent Dethlefs, executive director of the CHOC Research Institute. 

“There’s growing evidence that early introduction of this technology results in overall cost savings,” Brent adds. “It’s important to get more insurance carriers to cover the cost of this testing over time, which will make rapid whole genome sequencing more available to vulnerable and underserved populations. CHOC always has been an advocate for social justice in health care, which includes greater access to genomic testing.” 

Caroline Marley praises the entire collaborative team at CHOC and the entire CHOC Specialists Metabolic Disorders division, including Dr. Chang, who is in charge of maintaining Oliver’s health until transplant; Erum Naeem, clinical research coordinator, NICU; and Cathy Flores, clinical research nurse coordinator, critical care. 

“It was a team effort involving the critical care, neonatology, metabolic and genetics teams, just to name a few, and a very strong partnership with RCIGM,” says Ofelia Vargas-Shiraishi, a clinical research coordinator at CHOC. 

“We had everyone by our side every step of the way,” Caroline adds. “Child life was amazing, and so is the spiritual care team. If you’re willing to learn, they’re willing to teach you.” 

Dr. Zadeh says the success of CHOC’s rWGS program – with its whopping .507 batting average – is a result of “a very unique blend of the right people coming together at the right time and the right institution with the right set-up.” 

She adds, “I don’t think it would have worked necessarily at every hospital. I think CHOC is unique. We have the right group of kids we are testing. And we have the right group of specialists involved. 

“We love our families. We get to have really great relationships with them. This program just shows that CHOC is all about the whole care of the child and the family.” 

CHOC partners buzzing about new virtual reality app that will teach parents about their child’s surgical devices

Two CHOC associates have spent the past year developing an app  to help parents caring at home for kids with medical devices such as gastric tubes, tracheostomy tubes, PICC lines, and central venous catheters.

The app, CareXR, will immerse parents in a virtual reality world created by pediatric gastroenterologist Dr. Ashish Chogle in partnership with veteran nurse Wanda Rodriguez, an instructor in the CHOC HELPs program.

Dr. Ashish Chogle, pediatric gastroenterologist at CHOC

The two gave a short demo on the new app during Pediatric Innovation Start-up Demo Day, an online forum hosted by The Innovation Lab in Newport Beach on May 20, and will present the app again at CHOC Innovation Day on June 25. 

Dr. Chogle designed the app in collaboration with Wanda, The Innovation Lab — which CHOC is affiliated with — and BioflightVR, a virtual reality app development company based in Santa Monica.

The CareXR platform will feature practice modules intended to provide parents and caregivers peace of mind when caring for kids at home. Forty-two percent of children are discharged from U.S. hospitals with some medical technology, the majority being G tubes and central lines.

CareXR is the first app developed by Dr. Chogle, whose philosophy includes pushing the envelope. His email signature reads, “No one made a difference by being like everyone else.” 

“That’s my life philosophy,” Dr. Chogle says. “I follow it. I’m a physician and I like taking care of my patients, but I always try to go beyond that. I’m always trying to do something extra for my patients.” 

Details about what the immersive world of the CareXR will look like, and what equipment parents will need to experience it, will be previewed at CHOC Innovation Day — “A Celebration of Innovation at CHOC” — on Friday, June 25, from 1-3 p.m. The online session, held in honor of the late Dr. Nick Anas for his contributions to innovation and medical intelligence, is open to all CHOC physicians and associates.

The virtual event will feature remarks by CHOC CEO Kim Cripe and Dr. Anthony Chang and also will showcase chief technology officer Adam Gold’s uTine autism app, groundbreaking artificial intelligence projects, innovation by nurses and much more.

“I’m very excited,” says Wanda, who will celebrate 43 years as a CHOC medical surgical nurse this July. “My biggest excitement is for the families. They’ll be able to see what they were taught here before their child was discharged and watch it as many times as they want, and wherever they want — on their smart phones or computer.”

Wanda conducts the virtual reality teaching sessions. The first module will detail PEG tube care (Percutaneous Endoscopic Gastrostomy tube). PEG tubes allow patients to receive nutrition through their stomachs.

A virtual reality module detailing tube care.

CHOC already sends parents home with reading materials followed by a one-hour, in-person class Wanda teaches to make them feel comfortable in caring for the device. The new app takes this instruction to an entire new level, says Wanda and Dr. Chogle, both of whom believe this is the first such app developed at any pediatric hospital.

“I feel like God gave me this project,” says Wanda, who became involved in it after hearing the concept that was pitched by Dr. Chogle at a pediatric “Hack-A-Thon” hosted by CHOC in February 2020. A hack-a-thon is a session where a group comes together to create software to accomplish a set goal.

“When I found out about the concept, I was just totally thrilled,” Wanda says. “And what BioflightVR and The Innovation Lab have come up with is amazing.”

The first module in the app is expected to be completed this June, Dr. Chogle says.

The “XR” in the app’s name stands for extended reality. 

“My concept is we’re extending the care for patients in terms of quality as well as location – we’re extending the care into their home,” Dr. Chogle says. “We’re going to keep adding modules so parents can pick and choose depending on what condition and device their child has.” 

Dr. Chogle, whose favorite TV show is, not surprisingly, “Shark Tank,” where inventors pitch projects to potential investors, plans to research the efficacy of the app at CHOC and other partner sites.

“I love the concept of coming up with new ideas to change the status quo,” explains Dr. Chogle, who has been at CHOC for six years. 

Wanda says the virtual reality program will be light years beyond the typically dry medical device videos now available. The immersive experience of the first module of CareXR will cover such topics such as site care, feeding, and more.

“I think CHOC is the first hospital out of the gate on this,” she says. “And everyone will be able to see it after May 20.”

Dr. Chogle says he became interested in the use of virtual reality in healthcare after seeing a presentation by another gastroenterologist, Dr. Brennan Spiegel at Cedars-Sinai. Dr. Spiegel uses virtual reality for pain management in adults.

“I started following Dr. Spiegel’s work,” Dr. Chogle says. His first foray into the virtual reality universe involved using biofeedback applications to treat patients with IBS (irritable bowel syndrome).

Dr. Chogle recalls a CHOC patient’s family distress at having to care for their child with a G-tube.

He recalls the flustered father telling him at a follow-up visit to his clinic: “I wish we were back in the ICU so the nurses could take care of our child. There’s this foreign thing sticking out of my kid’s belly and I’m afraid to touch it.” 

Recalls Dr. Chogle: “That’s when it struck me: Is there any way, I thought, to teach these parents in a better way where they can focus on what is being taught, then repeat if needed what is being taught, and they practice the tasks which they were taught without having to actually handle the tube on their child? I thought, ‘What if I use virtual reality technology to better educate these parents and let them practice in a virtual world so they become comfortable with it?’ Also, there’s always the question of when we discharge a patient. Sometimes the parents push back, saying, ‘Oh, no, we’re not comfortable leaving yet.’ What if we are able to determine the readiness of the parents to be discharged?”

There are four parts to the teaching app. The first is an animated video of exactly what is going to happen during the surgical procedure to implant the device. The module then teaches parents about the different parts of the device, how to hook it up, how to take care of it, and how to identify complications to seek help. The third section is interactive where parents can practice the task in virtual reality. The fourth section tests the parents on their newly acquired skills and lets the bedside team determine if the parents are ready to go home with the device.

“Basically,” says Dr. Chogle, “this is about optimal teaching, reinforcing that teaching, and building the confidence of parents and caretakers.” 

Register here for CHOC Innovation Day.

CHOC awarded $2.3-million grant to study how toxic stress and unpredictability in the early environment affects neurodevelopment

The state of California has awarded CHOC, in partnership with UC Irvine and Chapman University, a $2.3-million grant to screen patients for adverse childhood experiences (ACEs) and childhood unpredictability to assess how such high-stress events affect the brain and put kids at increased risk of later developing physical and mental illnesses.

In a novel aspect of the study, researchers also will determine if there are epigenetic markers on the DNA that predict whether any given child will be more adversely affected than another.

The team is among four awardees statewide that have been given a total of $9 million to assess which children are most vulnerable to the effects of ACEs and unpredictability in the home environment, and to design medical care to improve the outcomes for this particular group of patients – a model known as “precision medicine,” which eschews a one-therapy-fits-all approach to healthcare.

“The whole concept here is that kids who grow up in environments with frequent exposures to toxic levels of stress can have all kinds of internal things happen in their bodies related to prolonged or extensive stress hormone response – their brains can develop differently, and when they become adults, research has shown that they have a higher risk of developing medical conditions such as heart disease, asthma and cancer,  among other physical diseases, as well as mental disorders,” says Dr. Charles Golden, a co-investigator on the study and executive medical director of the CHOC Primary Care Network (PCN).

Dr. Charles Golden, executive medical director of the CHOC Primary Care Network (PCN)

The California Governor’s Office of Planning & Research, in partnership with the Office of the California Surgeon General, awarded the three-year research project as part of the California Initiative to Advance Precision Medicine (CIAPM). The other three recipients were Children’s Hospital Los Angeles, University of California, San Francisco, and Loma Linda University.

The CHOC-UCI-Chapman research project begins in July 2021, with screening expected to start in CHOC PCN clinics by November 2021. Lead principal investigator on the project is Dr. Tallie Baram, Bren Distinguished Professor and director of the Conte Center at UCI. The National Institute of Mental Health-funded Conte Center also addresses how early-life experiences influence the brain and contribute to mental illnesses.

Results of the study are expected by the end of 2024, says Laura Glynn, PhD, a Professor of Psychology and Associate Dean for Research at Chapman University and one of the principal investigators on the study.

CHOC’s PCN has been screening its Medi-Cal patient population for ACEs since February 2020, and expanded such screening – using a tool called PEARLS, for Pediatric ACEs and Related Life Events Screener – to all patients in November 2020, Dr. Golden says.

The 17-question PEARLS tool screens for such experiences as a parent being jailed, the prevalence of alcohol or drug abuse in the household, and whether the child has been a victim of violence in his or her neighborhood, in the community at large, or at school.

“This existing infrastructure at CHOC was a very important part of the application for this grant,” Glynn says.

The CHOC-UCI-Chapman study, “Using Precision Medicine to Tackle Impacts of Adverse and Unpredictable Experiences on Children’s Neurodevelopment,” will dig deeper than standard PEARLS screening.

The children will be asked an additional five questions to assess exposure to unpredictability in the social, emotional, and physical domains. Such questions are an attempt by researchers to develop an instrument that will predict this population of kids’ resilience to, or risk of developing, physical or mental illnesses. Children from low socioeconomic and racial/ethnic minority communities are at greater risk of exposure to ACEs.

“This study will involve looking at whether routine, or lack of routine, in a child’s life contribute as an ACE,” Dr. Golden explains. “In other words, do they eat dinner every night at 6 p.m., do they have a routine bedtime, do they have a stable household versus a family with no routine or little structure.”

Such factors of unpredictability potentially are amenable to intervention, Glynn notes.

Emerging evidence from experiments with rodents show that fragmented or unpredictable maternal signals influence the maturation of systems governing emotional and cognitive function in the developing brain. In preclinical work led by Dr. Baram, the group has shown that rats exhibited diminished memory function when exposed to unpredictable maternal signals early in life, as well as anhedonia (reduced ability to experience pleasure) beginning in adolescence.

Also, as part of the study, DNA swabs will be performed on a cohort of 120 children who experience high levels of ACEs to determine if genetic expression patterns indicate a vulnerability to chaos and unpredictability in their lives. The team also will be examining whether epigenetics – the process of how genes may be altered based on environmental events – may play a role in the development of ACE-related medical conditions.

“We think potentially we can look at these epigenetic profiles to predict neurodevelopmental outcomes,” Glynn says.

Dr. Michael Weiss, vice president of population health at CHOC and a primary investigator on the study, says such information may make it easier for doctors to identify a child who has a genetic predisposition to experiencing a bad outcome from being exposed to ACEs – thus leading to targeted interventions to kids who need them the most.

“This project is a great demonstration of a collaboration between CHOC and UCI and Chapman University involving primary care research,” Dr. Weiss says.

Other CHOC researchers who will participate in the research project are Dr. Dan Cooper, who treats kids with lung conditions at CHOC and who serves as director of UC Irvine’s Institute for Clinical & Translational Science; Dr. Candice Taylor Lucas, co-director of LEAD-ABC (Leadership Education to Advance Diversity–African, Black and Caribbean) at UCI/CHOC; Louis Ehwerhemuepa, PhD, a senior data scientist; and Dr. Mary Zupanc, co-medical director of the Neuroscience Institute.

CHOC leads first ED study on adverse childhood experiences and prevalence of food and housing insecurity

In the only known hospital research project of its kind in the United States, CHOC’s Emergency Department is leading a study on how food and housing insecurity impacts children’s health and environment.

The project, being conducted in collaboration with departments at UC Irvine and Chapman University, involves surveying 7,000 CHOC ED patients by September 2021, with results expected by the end of the year, says Dr. Theodore Heyming, medical director of emergency medicine at CHOC and chief architect of the effort.

Dr. Theodore Heyming, medical director of emergency medicine at CHOC

The study, which to date already has enrolled some 2,500 CHOC patients, will assess ACEs, also known as adverse childhood experiences. Most ACEs studies conducted to date by other hospitals have been limited to the primary care setting. Since July 2020, CHOC’s ED has been screening for ACEs with particular attention to the following three areas: abuse, neglect, and/or household challenges. 

“To my knowledge, we’re the only pediatric hospital that has this kind of health research project implemented in an emergency department,” Dr. Heyming says. And that makes sense, he adds.

“People don’t usually think of an emergency room as a primary care setting,” Dr. Heyming says. “However, the opposite actually is true. A lot of patients use the ER as their primary care. EDs also have the ability to potentially intervene on patients even to a greater extent than in the primary care setting, given the availability of experienced social workers.”

The potential benefits of the study, which involves questioning patients in more depth than standard ACEs screenings, are numerous, as detailed in an abstract that Dr. Heyming and his collaborators have submitted to the American Public Health Association (APHA), a Washington, D.C.-based organization for public health professionals.

For example, ED-based research has yet to investigate the extent to which neighborhood-level factors such as fast-food accessibility and a lack of healthy food options contribute to poor pediatric health outcomes.

The CHOC-led study aims to identify such neighborhood-level factors and generate valuable information that could be leveraged for public policy and advocacy efforts to improve pediatric health. That, in turn, could lead to a reduction of ED overutilization and associated healthcare costs.

Disadvantaged kids hit hardest

Food and housing insecurity disproportionately impact children in disadvantaged communities, studies show.

And children living in so-called “food swamps” — areas with an abundance of fast-food restaurants, pharmacies and discount stores that sell cheap but unhealthy food — as well as “food deserts,” areas that lack affordable food that is fresh and nutritious, are more at risk of obesity, diabetes and other adverse health conditions, as well as mental and behavioral issues and trauma, the paper explains.

The study of 7,000 CHOC ED patients comes on the heels of a smaller CHOC ED study on the prevalence of ACEs in patients that was conducted between July 2020 and February 2021. Twenty-four CHOC ED doctors were certified in state-run ACEs modules and 1,861 patients participated – the biggest cross-sectional survey that CHOC has done to date, according to Dr. Heyming.

About 20 percent of respondents in that smaller-scale survey reported at least one ACE or more — a percentage consistent with national numbers, Dr. Heyming says. In addition, the survey found that the prevalence of food insecurity among CHOC patients is about 15 percent. 

Now, in partnering with Chapman University and UCI, CHOC is digging deeper into the prevalence of food and housing insecurity with its study of 7,000 patients — and the potential neighborhood-level factors that contribute to such insecurity.

Dr. Jason Douglas, an assistant professor of public health at Chapman University, specializes in investigating social and environmental determinants of public health disparities that disproportionately impact the Black and Latinx communities. 

Dr. Douglas, who has extensive experience connecting social and environmental factors to public health disparities in Los Angeles County as well as Northern California, New York and Jamaica, will use data from the 7,000 survey respondents to analyze neighborhood-level factors that contribute to poor pediatric health.

“The goal is to identify factors that are affecting community health and well-being and inform public policies to improve health in underserved communities,” Dr. Douglas says. “To be able to identify adverse childhood experiences and food and housing security within the clinical context and use that data to garner a better understanding of how social and environmental factors may be exacerbating health disparities will allow us to develop a more holistic understanding of the deleterious impacts of these challenges on children’s lives.”

At UCI, Dr. Victor Cisneros, an emergency medicine clinical instructor and current research fellow in population health and social emergency medicine, will lead a team of investigators who will participate in follow-up phone calls with the CHOC ED survey respondents. The follow-up interviews will be conducted three and six weeks after respondents complete the survey.

“These follow-up interviews are important to assess if interventions given in the ED are effective, and if not, what barriers our patients are facing,” Dr. Cisneros says.

All CHOC ED patients up to 18 years of age and their parents or guardians qualify as potential participants in the survey, which is available in English and Spanish. The survey includes 16 questions that take about 5 to 10 minutes to complete on iPads provided by CHOC.

Patients identified as experiencing food and/or housing insecurity are directed to passive food and housing resource materials in the form of informational pamphlets and flyers.

“We’re going to potentially be able to leverage this data to help cities and the county to make informed policy changes,” Dr. Heyming says. 

“Obtaining this information will not only be great for Orange County,” he adds. “I think we’ll be able to point to the fact that pediatric EDs are a great place to conduct these screenings because there’s a high incidence of either adverse childhood experiences or food or housing insecurity.”

Dr. Heyming says pediatric EDs in the future would be able to provide patients more active resources such as gift and food cards.

Dr. Douglas says the study ideally will serve as a model for pediatric and other emergency departments across the country.

The bottom line, Dr. Cisneros says, is getting people resources they need – for example, food that restaurants now dispose of that can be “recycled.”

The ED, he says, is a perfect microcosm of the community.

“One of the beauties of this study,” Dr. Cisneros says, “is we’ll be able to identify people with housing and food insecurity and be able to refer these people to the appropriate tailored resources. In addition, we will be able to further quantify what obstacles our patients face both at the individual and community level.”

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.

Dr. Mary Zupanc awarded prestigious Arnold P. Gold Humanism in Medicine Award

Dr. Mary Zupanc has achieved many superlatives over her long career in medicine; accolades and awards have followed.  But the co-medical director of the CHOC Neuroscience Institute and UCI professor of pediatrics and neurology considers the Arnold P. Gold Foundation Humanism in Medicine Award her highest honor of all.

Dr. Mary Zupanc, co-medical director of the CHOC Neuroscience Institute

The Child Neurology Society (CNS) has announced that Dr. Zupanc will receive this special distinction at their annual meeting in October 2021.  She is only the eighth individual to be thus honored in the 50-year history of the society, which represents the nation’s pediatric neurology subspecialists.

The Humanism in Medicine Award will be presented to Dr. Zupanc — who specializes in childhood epilepsy — for practicing “extraordinary and ongoing humanism” throughout her medical career. Included in the criteria noted by her peers are:

  • Compassion and empathy in the delivery of patient care
  • Respect for patients, families and co-workers
  • Cultural sensitivity in working with patients and family members of diverse backgrounds
  • Effective, empathetic communication and listening skills
  • Understanding of patients’ need for interpretation of complex medical diagnoses and treatments
  • Comprehension and respect for the patient viewpoint
  • Sensitivity to patients’ psychological well-being and patients’ and families’ emotional concerns
  • Ability to instill trust and confidence

“You may be the greatest scientist in the world, but if you don’t have empathy and compassion for patients and families, you can’t advance the field of medicine,” says Dr. Zupanc. “To me, as a clinician bringing science to the bedside – this is the ultimate award.”

This award also has personal meaning and sentiment for Dr. Zupanc, because as a faculty member at Columbia University, she and Dr. Gold – the award’s namesake – became good friends.

“Dr. Gold was one of the kindest, gentlest, most intelligent child neurologists I’ve ever known,” she says.  “He had a real compassion for children, and we just hit it off.”

Dr. Gold, who died in 2018 at the age of 92, frequently complimented Dr. Zupanc: “He went out of his way to tell me that I had taught him some things about epilepsy that he didn’t know,” she says. “I was sure that couldn’t be the case, since he was senior to me, with such knowledge and wisdom. But he insisted, and that was the kind of person he was; always offering encouragement and making people feel special.”

A trailblazer for both women and the epilepsy subspecialty

Dr. Zupanc has received many accolades over the years, including being the first woman to graduate top of class from UCLA Medical School, and at a time when women were just beginning to be have more representation in medicine.  She was later named one of 10 “outstanding young women in America.”  She has garnered many teaching awards from medical students and residents, and continues to be listed among the best doctors in America.

Dr. Zupanc is board-certified in four different medical specialty areas: pediatrics, neurology, neurophysiology and epilepsy. Her primary mentor, Dr. Raymond Chun, encouraged her to return to her home state of Wisconsin and become a child neurologist. Dr. Zupanc initially hesitated, but ultimately agreed, thinking it would simply be a good learning opportunity from her mentor. While there, she learned that pediatric epilepsy didn’t have many treatment options aside from a handful of drugs. However, there was exciting innovation with pediatric epilepsy surgery just starting to be performed in young children. 

“Epilepsy surgery in children was in its infancy at this time, and people thought we were crazy,” Dr. Zupanc says. “The advances we’ve made since then are astonishing. We can do things we’d never dreamed of before.”

Now, she says, she feels like Sherlock Holmes when she works with a new patient. Each child is different, and a physician must determine how to best help them in terms of their specific situation – medically, socioeconomically, culturally and religiously. It’s imperative to partner with families, listen to them and come to an agreement, Dr. Zupanc says.

A legacy that goes beyond awards

Throughout her career, Dr. Zupanc has been very active in the CNS and the Child Neurology Foundation, a parent/provider advocacy group linked to the CNS. A handful of her other legacy accomplishments include her work in infantile spasms and epilepsy surgery; transitioning care of pediatric patients to adult care; and, most recently, chairing the CNS relative value unit (RVU) task force, resulting in a seminal article about physician workload, compensation and burnout.  

As a clinical professor in academic medicine, she has continued to teach medical students, residents, fellows and colleagues, as well as mentor young faculty, especially women.

“Fifty percent of medical school classes are now women, but there is still a glass ceiling in terms of being leaders in our field,” she says. “We’ve come a long way, but the progress is slow. Having diversity, inclusion and equity in medicine makes the field better and stronger.”

Dr. Zupanc was recruited to CHOC 10 years ago to build the neurology division. She now considers her greatest accomplishment to be CHOC’s designation as a Level 4 Epilepsy Center – the highest level of specialization – providing “complex forms of intensive neurodiagnostic monitoring; extensive medical, neuropsychological and psychosocial treatment; and complete evaluation for epilepsy surgery, including intracranial electrodes and a broad range of surgical procedures for epilepsy.”

Since arriving at CHOC, she has grown the pediatric neurology division from four physician subspecialists to the present 16, specializing in areas such as epilepsy, sleep disturbances, movement disorders, concussion, stroke and autism. This growth has resulted in the reorganization and consolidation of the neurology division with the neurosurgery division, becoming today’s CHOC Neuroscience Institute. 

In working at CHOC, Dr. Zupanc has found inspiration from helping families who believe they have no hope. When they arrive here, she says, some feel as though their lives are falling apart; their child may have difficult-to-control epilepsy or is struggling developmentally. The quality of care they receive from CHOC is transformative and changes their lives, she says.

Medical outreach, both nationally and internationally

To only give honor to Dr. Zupanc’s academic and scientific accomplishments would be to miss a great part of what her life has been about, as reflected by the Humanism in Medicine Award. Throughout her medical career, she has continually been involved in family and community outreach and advocacy; actively participated in family support groups; and developed outreach programs for underserved communities.

Her passion and advocacy have even reached beyond national borders. She was a member of the board of directors of Physicians for Social Responsibility, the American section of the International Physicians for the Prevention of Nuclear War (IPPNW), when the group was awarded the Nobel Peace Prize in 1985. In that role, she traveled with an American delegation to the Soviet Union and met with like-minded Soviet physicians to share ideas for pulling their nations back from the brink of nuclear disaster.

More recently, Dr. Zupanc traveled to India, Armenia and Vietnam on missions of teaching and providing medical care in areas where doctors are rare and medical specialties often non-existent. Back home, her passion is family-centered care, and she is a regular guest speaker at family support groups.

“My patients and their families have taught me so much,” Dr. Zupanc says. “They’ve taught me humility, how to truly listen, to be open-minded and that deeply caring for the patient and family reaps great rewards.”

“One of the wonderful things about child neurology,” she explains, “is that you often embark on a decades-long journey with families.” She still receives letters and cards from patients she treated 30 years ago. “You transform a child’s life and a family’s life. That’s what this profession is all about, and why it has always been more than a job for me. It’s a calling.”

Learn more about the CHOC Neuroscience Institute.