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.

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.” 

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.