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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.” 

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Landmark study of COVID-19 infection among K-12 students debunks early fears about transmission at schools

Debunking a fear that was widespread at the beginning of the COVID-19 pandemic, a novel CHOC- and UC Irvine-led study of SARS-CoV-2 infection rates among the K-12 population concludes that within-school transmission of the virus is limited.

The “Healthy School Restart Study,” one of the first to provide essential research on COVID-19 transmission in children and adolescents as schools started reopening last fall, also concludes that although the compliance rate to such mitigation guidelines as wearing face coverings and practicing social distancing at the four Orange County schools directly observed by investigators varied, it averaged about 90 percent.

The seminal research paper is under review and is expected to be published soon, says 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. Cooper is a multiple principal investigator of the study along with Dr. Erlinda Ulloa, a CHOC infectious disease specialist and an assistant professor in the Department of Pediatrics at the UCI School of Medicine.

Dr. Dan Cooper, pediatric pulmonologist at CHOC

“The number one fear was that, just like influenza, children would be a reservoir for COVID-19 and would spread it to each other at schools and then spread it to adults,” Dr. Cooper says. “The data is showing us, fortunately, that that’s not the case. While such spread can occur, it is limited and when schools follow standard mitigation procedures, spread is minimal.”

The study, a joint effort of CHOC, UCI Health and the Orange County Health Care Agency, found that infection rates at schools reflected those of the community, and that neither remote learning nor highly mitigated onsite school attendance could eliminate SARS-CoV-2 infection.

“It would be disingenuous to say it’s 100-percent safe to return to schools – we’re still in a pandemic,” Dr. Cooper says. “It would be wrong to say there’s absolutely no risk in sending your child back to school, but it would also be wrong to say there’s no risk in not sending your child back to school.”

A total of320 students ages 7 to 17, as well as 99 school staff members, participated in the research project by agreeing to nasal swab and blood testing. Two of the schools in the study serve low-income Hispanic learners. One school serves a high proportion of kids with special needs, and the fourth school serves predominately white kids from upper- and middle-class families. The first three schools mainly provided remote instruction, while the fourth school predominantly provided onsite instruction.

“The four participating schools reflected the enormous diversity of income, community COVID-19 case rates, school type (private, charter, public), and learning status (remote vs. onsite) that face learners, school staff, and policy makers across the United States,” the paper states.

The study was done in two phases – in early fall, when there were lower levels of COVID-19 cases, and a second time during the late fall-winter surge, when there was a tenfold increase in COVID-19 cases. Trained observers studied kids four times a day – during classroom learning, at active recess, during PE, and during communal lunch.

During the first testing phase, no kids tested positive for COVID-19. During the second phase, 17 kids tested positive for the virus, along with six staff members.

School A, which primarily serves lower-income Hispanic students and had 97 percent of its students engaged in remote learning, had the highest infection rate, at 12.9 percent. School D, which serves upper- and middle-class students who primarily attended class in person, had the lowest infection rate, at 1.2 percent.

In the aggregate, there was no statistically significant difference in SARS-CoV-2 positive rates among remote or onsite learners, the study found.

In addition, the study found there was a significant relationship between SARS-CoV-2 positivity and presence of symptoms – data that supports the use of limited symptom screening as a mechanism to enhance healthy school reopening.

Investigators also tested for 21 other circulating respiratory pathogens and turned up no signs of the influenza virus – just the common-cold rhinovirus, which stays functional on surfaces such as desktops for much longer intervals than the coronavirus or influenza virus.

“The mitigation procedures and cleanliness procedures that had been put in place got rid of the flu,” Dr. Cooper notes.

He adds: “This study should make parents feel better and prompt them to ask the right questions to their school. Parents should ask, ‘What are your mitigation plans? How are you making sure people are paying attention to your plan? What happens to a child who reports symptoms during the day? Do you have a plan?’ That’s what I would want to know as a parent.”

Mitigation procedures should remain

With widespread implementation of pediatric COVID-19 vaccination still many months away, it’s likely that adherence to COVID-19 mitigation procedures, including physical distancing and face covering, will need to continue for the near future, the study concluded.

Dr. Cooper notes that some students, mostly from lower-income families, are going on a year without in-classroom learning – an unfortunate situation that comes with many disadvantages, such as more sedentary time at home on the computer and increased obesity and depression.

“We have to weigh the damage to kids of keeping schools closed,” he says. “Who is being impacted most? It’s the low-income kids.”

In addition to Dr. Cooper and Dr. Ulloa, other CHOC and UCI personnel who participated in the “Healthy School Restart Study” included Jessica Ardo, Kirsten Casper, Andria Meyer, and Diana Stephens, clinical research coordinators; Dr. Charles Golden, vice president and executive medical director of the CHOC Primary Care Network; and Dr. Michael Weiss, vice president of population health at CHOC.

The authors of the research paper also acknowledged the “outstanding management” of the complex study by Phuong Dao, director of research operations; Brent Dethlefs, executive director of research; and other staff members of the CHOC Research Institute.

In another research paper, published in late February 2021 in the journal Pediatric Research, Dr. Cooper and Dr. Ulloa addressed the biologic, ethical, research and implementation challenges of SARS-CoV-2 vaccine testing and trials in the pediatric population.

Among others, the paper was co-authored by Dr. Coleen Cunningham, CHOC’s new senior vice president and pediatrician-in-chief, as well as chair of the UCI Department of Pediatrics, and Dr. Jasjit Singh, a CHOC infectious disease specialist.

Children under the age of 12, this paper notes, have yet to be enrolled in COVID-19 vaccine trials.

The paper states that enrolling children in medical research involves a balance between access to experimental but potentially life-saving therapeutics and protection from unsafe or ineffective therapeutics.

The paper notes that in the early stages of the pandemic, a national working group convened and published a commentary outlining the challenges ahead that would inevitably need to be addressed as schools reopened. That commentary, the paper says, included a message that resonates with the immediate challenge of pediatric SARS-CoV-2 vaccine testing and clinical trials:

“This could be accomplished by building public health-focused collaboratives capable of continuous learning and rapid cycles of implementation, as COVID-19 information evolves at breakneck speed. Otherwise, we risk further compounding the incalculable damage already incurred by COVID-19 among children across our country and the world.”

Read more about the Healthy School Restart Study.

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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-UCI Pediatric Urology study illustrates how COVID-19 delayed emergency care

CHOC’s pediatric urology team, in a partnership with UCI Health, has published the largest study of its kind on an emergency condition that afflicts young males, adding to the emerging body of data on how the COVID-19 pandemic has caused patients to delay seeking emergency treatment.

The CHOC/UCI-led study, recently published in the Journal of Pediatric Urology, also marks a first for the Western Pediatric Urology Consortium (WPUC), a group of several leading pediatric healthcare centers that CHOC was instrumental in founding in 2020.

“This study is a good example of CHOC leading the way and bringing together institutions to answer questions that haven’t been answered before,” says Carol Davis-Dao, PhD, a clinical epidemiologist in CHOC’s Department of Pediatric Urology who has a joint appointment in the UC Irvine Department of Urology.

Dr. Davis-Dao leads urology research efforts at CHOC to provide patients and their families with the most current, evidence-based diagnoses and treatments.

The lead author of “A Multicenter Study of Acute Testicular Torsion in the Time of COVID-10,” Dr. Sarah Holzman, a research fellow at UCI-CHOC, says the research paper is the only multicenter urology study and the largest one related to torsion and COVID-19. Most importantly, she adds, it’s the only study that shows patients were delaying presenting to the Emergency Department for testicular torsion.  

The study’s key finding: Patients significantly delayed seeking treatment in the Emergency Department following the onset of symptoms of a testicular torsion during the early months of the pandemic, and, as a result, more of them had to have a testicle removed compared to patients with the same condition who sought care before the pandemic.

“This is the largest study of testicular torsion during COVID-19 and the first to show a significantly longer time from symptom onset to presentation (in the Emergency Department),” the paper states.

“Low baseline awareness of torsion may contribute to delays in care that were present even before the pandemic, making patients and their families less likely to present for emergency care during the pandemic when there is concern for exposure to COVID-19.”

Also participating as authors of the study were CHOC pediatric urologists Dr. Heidi Stephany, Dr. Kai-wen Chuang, Dr. Elias Wehbi, and Dr. Antoine Khoury, chief of pediatric urology at both CHOC and UC Irvine Medical Center. 

Testicular torsion occurs when the spermatic cord that supplies blood to the testicle twists, cutting off the testicle’s blood supply. It presents as acute and severe scrotal pain that quickly worsens, as well as nausea and vomiting.

Testicular torsion occurs when the spermatic cord that supplies blood to the testicle twists, cutting off the blood supply.

It’s a relatively rare surgical emergency, with an incidence rate of around 4 per 100,000 males per year in the United States. It most frequently occurs in males between the ages of 10 and 19, with one peak in the neonatal period and the second peak around puberty.

Surgery is required for all patients with testicular torsion.

When torsion is caught early — typically within the first six hours — a detorsion orchiopexy can be performed. In the detorsion surgery, the spermatic cord is untwisted and the blood flow returns to the testicle. The surgeon then secures the testis to the inner scrotum so it can never twist again. However, if patients delay coming to the hospital and the testicle does not have blood supply for several hours, the testicle may have to be removed in a procedure called an orchiectomy.

The CHOC-UCI led study involved a total of 221 patients enrolled at one of seven hospitals in the WPUC (CHOC, Children’s Hospital Los Angeles, Seattle Children’s, UC San Francisco, UCLA, UC San Diego and Western University in Ontario, Canada).

A total of 84 patients with testicular torsion, ages 2 months to 18 years, made up the first cohort. They were studied from March 2020 through July 2020.

The second cohort totaled 137 patients who were treated from January 2019 through February 2020.

The median time it took patients in the COVID-19 cohort to show up at the Emergency Department from the onset of symptoms was 17.9 hours, the study found. This compares to 7.5 hours for patients in the pre-pandemic cohort.

A total of 42 percent of patients in the COVID-19 cohort underwent an orchiectomy (removal of the twisted testicle), compared to 29 percent in the pre-pandemic population.

Distribution of patterns in acute testicular torsion presentation by month of the COVID-19 pandemic. Blue bars represent rate of orchiectomy by month, while the navy-blue line represents median time from onset of symptoms to presentation by month.

Other studies have shown that COVID-19 has caused people to delay Emergency Department treatment, including one that examined acute appendicitis from the New York metropolitan region and another similar study in Virginia.

During the last week of June 2020, 41 percent of U.S. adults admitted to avoiding medical care because of COVID-19 exposure concerns and 12 percent avoided urgent or emergent care, according to the Morbidity and Mortality Weekly Report, an epidemiological digest for the United States published by the Centers for Disease Control and Prevention.

Drs. Holzman and Davis-Dao say they plan to continue the study as the pandemic progresses.

Read more about CHOC’s Department of Urology.

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In the spotlight: Dr. Coleen Cunningham

Dr. Coleen Cunningham’s family has long joked that she knew she wanted to be a pediatrician before she was born. By eighth grade, she was certain that she’d work in pediatrics – and she never looked back.

“Kids are just wonderful,” she says. “They’re always a pleasure to be around – how could you ever not want to help a child?”

Today, she serves as both senior vice president and pediatrician-in-chief at CHOC and chair for the UCI Department of Pediatrics. In this unique dual role, which she began in March, Dr. Cunningham acts as a senior clinical leader with oversight responsibility for CHOC’s vast pediatric medical and surgical services, academic advancement, research and teaching programs.

Dr. Coleen Cunningham, senior vice president and pediatrician-in-chief at CHOC and chair for the UCI Department of Pediatrics

“The big job here is integrating our two institutions, CHOC and UCI, and learning how we can align better,” says Dr. Cunningham.

In this role, she explains, she works as a liaison between physicians and administration, which allows her to communicate the patient care needs from the standpoint of a physician to administration, and vice versa. She will also be overseeing the medical education components, so that both entities can ensure they are recruiting and providing the best trainees, residents and fellows.

“As an insider at both CHOC and UCI, I understand what the issues are, but I’m also able to speak for both teams,” she says. “I can take a step back and advocate for the group as a whole. This is a new perspective, but it affords each institution the room to adjust and align.”

Most recently, Dr. Cunningham served as professor with tenure at Duke University in the Division of Pediatric Infectious Diseases and as chief of Global Health and vice chair for research in the Department of Pediatrics. She held secondary appointments in the Department of Pathology at Duke and the Duke Global Health Institute.

She earned her medical degree from the State University of New York Upstate Medical University in Syracuse, NY, where she also did her residency in pediatrics and a fellowship in pediatric infectious diseases. At SUNY, she served as an associate professor of pediatrics and started a pediatric HIV clinic.

Her work on HIV and AIDS in children has been recognized numerous times and is one of the stand-out moments of her career.

“When I started my job, I was telling mothers that their baby had HIV,” she says. “I would be crying alongside them, because at the time, there wasn’t much we could do. Today, when babies are diagnosed, they can be effectively treated – they can live to be 60 or 70, and we get to tell their parents that they’re going to lead a normal life. Seeing that evolve over the course of my career has been very rewarding.”

Dr. Cunningham has published more than 140 manuscripts and led many multicenter clinical trials aimed at the treatment and prevention of HIV infection in children. The progress that has been made in treating HIV, she says, reinforces the importance of integrating clinical care and research.

“Driving the best care for tomorrow requires integrating research and data analysis into our patient care environment, saying ‘Can I improve? Can I do it better?’” says Dr. Cunningham.

Her goal at CHOC, she says, is making research visible.

“CHOC already provides exceptional, top-notch medical care to children,” says Dr. Cunningham. “And if people heard about some of the incredible things we’re doing here, they’d be amazed. We want to lead the nation in care, but we also need to make that care more visible and teach others how to follow suit.”

Her drive to teach extends beyond her role with CHOC and has long been one of her passions. A few years ago, she was recognized as a top mentor by Duke, and she continues to actively mentor several junior faculty at the university.

“I love watching my mentees come into their own, fly and go beyond what I can do – it’s like having more kids,” says the mother of five. “I get excited to watch them grow and move their career in the direction they want it to go.”

Dr. Cunningham’s ultimate goals at CHOC are to fully and successful integrate the health system and UCI; develop the physicians, including the physician-scientists at both institutions; and enhance CHOC’s national reputation.

Once she has accomplished that, she says, she has only two things she wants to focus on: her garden and her grandchildren.