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.

Innovating Toward a Cure: Smart Shunt Technology for Hydrocephalus

Shunts for hydrocephalus require an average of about 10 revisions during the patient’s lifetime. New innovations at CHOC aim to revolutionize shunt design to give patients more control in the management of this condition.

For the past few years, Dr. Michael Muhonen, pediatric neurosurgeon at CHOC, has been developing and refining a “smart shunt,” which allows families of children with hydrocephalus to measure intracranial pressure at home or determine if the shunt is failing. The shunt has a wireless sensor that communicates with a family’s smartphone-like device when held near their child’s head. If the sensor determines the pressure is too low, a magnet is used to manipulate the pressure. Another device within the valve allows the parent to potentially disocclude the shunt catheter if it’s plugged.

Dr. Michael Muhonen, pediatric neurosurgeon at CHOC

The technology received FDA approval last year, and it should be commercially available within one year.

“I have families who won’t go more than a few hours away from their pediatric neurosurgeon because of fear. If the shunt plugs up, what are they going to do?” Dr. Muhonen says. “Every neurosurgeon who treats hydrocephalus has a goal to make a simplified system for both the families and the doctor, and a system that saves future surgeries down the road. Having wireless technology so you can measure pressure with your smartphone would accomplish that. I’ll keep working on this until it happens.”

Smarter technology would also result in far fewer operations for patients.

“Some patients come in regularly with headaches, failures, broken and fractured shunts or calcium on the tubing; we follow them regularly and the chronically shunted patient has too many operations,” Dr. Muhonen says. “I am excited about the prospects that this new technology has to offer to many patients with hydrocephalus.”

The supportive culture at the CHOC Neuroscience Institute has aided Dr. Muhonen’s research and advancement of wireless technology in shunts.

“CHOC has been very supportive in morphing into a hospital that supports research and cure, rather than a purely clinical children’s hospital,” Dr. Muhonen says. “We’re also fortunate to have donors in the community who want to help. Together, we’re able to strengthen our focus on being a leading research and academic institution.”

Our Care and Commitment to Children Has Been Recognized

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

USNWR Neurology and Neurosurgery award

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

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Research Shows Endoscopic Strip Craniectomy is Strong Alternative to Open Approaches for Craniosynostosis

Minimally invasive endoscopic strip craniectomy offers a strong alternative for infants with craniosynostosis, according to a growing body of research in pediatric neurosurgery.

“The data has been clear that this is a very effective surgery with excellent results, and it’s less invasive than the traditional open approaches for treating craniosynostosis,” says Dr. Suresh Magge, medical director of neurosurgery at CHOC and co-medical director of the CHOC Neuroscience Institute. “A lot of the research that we and other groups have done shows that results are either as good or can even be better in certain aspects of facial growth compared to open vault reconstruction.”

Dr. Suresh Magge
Dr. Suresh Magge, medical director of neurosurgery at CHOC and co-medical director of the CHOC Neuroscience Institute.

Dr. Magge’s research on the topic has included:

Traditional surgery for craniosynostosis is an open cranial vault reconstruction, in which a surgical team takes apart the skull in order to reshape the skull plates. If craniosynostosis is diagnosed early enough – preferably before four months of age – minimally invasive endoscopic surgery can correct this condition. Small incisions are made and, using a camera, the fused portions of the skull are removed.

While both the traditional cranial vault reconstruction and the minimally invasive surgery can offer excellent surgical results, the minimally invasive approach generally involves less blood loss and swelling, smaller incisions, reduced need for blood transfusions, less time under anesthesia and shorter hospital stays. Pediatric patients usually go home the day after surgery. Once surgery is completed, the patient is fitted for a cranial molding helmet he or she must wear for a few months that helps guide the skull correction over time.

“We have an outstanding craniofacial team, including neurosurgeons, plastic surgeons and maxillofacial surgeons, here at CHOC, and we strive to offer an individualized approach to each patient,” Dr. Magge says. “Physicians need to know that craniosynostosis requires an early diagnosis so that parents have the option of the minimally invasive surgery. At the same time, we want to give parents different options when it comes to surgery.”

Dr. Magge recently joined CHOC after an 11-year tenure as a pediatric neurosurgeon at Children’s National Hospital in Washington, D.C., where he started the medical center’s minimally invasive craniosynostosis program and was the director of neurosurgery fellowship training. He completed his neurosurgery residency training at the University of Pennsylvania and his pediatric neurosurgery fellowship training at Boston Children’s Hospital.

While Dr. Magge has a wide-ranging clinical practice, his special clinical and research interests include craniosynostosis, brain and spinal tumors, especially diffuse intrinsic pontine gliomas, and pediatric neurovascular disease, including arteriovenous malformation and Moyamoya disease. In his new role at CHOC, Dr. Magge looks forward to contributing to the growth of CHOC’s neurosurgical programs, including the brain tumor program, neurovascular program, epilepsy program, robotic surgeries and more. 

“It’s such an exciting time here at CHOC, from how we’re building and growing our programs to driving clinical innovation, as well as training the next generation of pediatric neurosurgeons through our affiliation with the University of California, Irvine,” Dr. Magge says. “We’re always asking ourselves, ‘What’s the best thing we can do for each child in the least invasive manner with the least amount of pain?’ and then doing so in a compassionate manner.”

Our Care and Commitment to Children Has Been Recognized

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

USNWR Neurology and Neurosurgery award

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

Related posts:

Virtual pediatric lecture series: Minimally invasive surgery for craniosynostosis

CHOC’s virtual pediatric lecture series continues with “Minimally invasive surgery for craniosynostosis.

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

Dr. Suresh Magge, medical director of neurosurgery and co-medical director of the CHOC Neuroscience Institute, will discuss several topics, including:

  • Diagnosing craniosynostosis and differentiating craniosynostosis from plagiocephaly.
  • Recognizing the early signs of craniosynostosis and understanding when to refer a patient to a neurosurgeon.
  • Differentiating open versus minimally invasive treatment of craniosynostosis.
Dr. Suresh Magge, medical director of neurosurgery and co-medical director of the CHOC Neuroscience Institute

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

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

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

MRI-Guided Laser Ablation with Stereotactic Assistance Targets Epilepsy, Tumors

Laser interstitial thermal therapy (LITT), or laser ablation, is among the latest advancements in minimally invasive neurosurgery, allowing surgeons to reach difficult areas of the brain — and offering less risk to patients at the same time.

“Instead of performing a craniotomy, which entails making a large incision and opening up the skull, we place a probe through a small hole in the skull a few millimeters in diameter,” says Dr. Joffre Olaya, pediatric neurosurgeon at CHOC. “Then, under MRI visualization, we deliver heat to the specific area, which destroys the abnormal tissue. Laser ablation is especially useful in patients with small seizure foci or tumors, particularly if they are deep.”

Dr. Joffre Olaya, pediatric neurosurgeon at CHOC

The benefits this minimally invasive approach provides to patients are especially welcoming. “For a craniotomy, patients will be in the hospital for three to five days, in the ICU most likely for a day or two, and they’ll experience discomfort from the skin and muscles on the head,” Dr. Olaya says. “With laser ablation, patients typically go home within a day or two and recover pretty quickly. They also experience less blood loss, pain and side effects overall. Also, laser ablation doesn’t prevent patients from having another procedure. If the tumor is still growing or the seizures are still continuing after ablation, I can go back and perform another laser ablation or a craniotomy.”

To increase surgical precision and accuracy when ablating brain tumors, deep lesions and tissue in the brain where seizures occur, Dr. Olaya employs a ROSA™ (robotic stereotactic assistance) robot.

“We obtain preoperative imaging studies and load those into the ROSA system, which allows us to plan the entry point and trajectory so we can precisely place the laser. This precision helps us to not only locate and effectively ablate our target, but avoid hitting blood vessels or causing unintended damage to surrounding tissues,” Dr. Olaya says. “We were the first pediatric center on the West Coast to have this technology. We use ROSA for multiple conditions, including patients with epilepsy and oncology patients with tumors.”

ROSA’s precision also helps minimize some risks commonly associated with surgery. “ROSA is an amazing tool that yields many benefits for our patients, including less time under anesthesia in the operating room,” Dr. Olaya says. “It also reduces blood loss and risk of infections.”

Although CHOC is at the forefront utilizing the latest technologies to best treat its patients in a minimally invasive manner when possible, Dr. Olaya says CHOC’s team approach to patient care is what sets it apart from other centers in the region.

“I’m really excited that CHOC is investing in this newer technology and it’s available here to provide to our patients, but our team mentality and how well we work together is crucial. Our epileptologists, radiologists, neuropsychologists, all of us really work well together as a team to identify the best candidates for this technology and to provide the best outcomes for our patients.”

Our Care and Commitment to Children Has Been Recognized

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

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