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.

CHOC joins drug trial for rare disease that devastates families

Like most physicians, Dr. Raymond Wang got into medicine because he wanted to help. He wanted to be able to tell patients and their families that he could fix whatever was wrong with them.

When it comes to the disease Dr. Wang dedicated his career to studying, however, he can’t offer such assurances. Hopefully that day is coming.

Dr. Wang and his team at CHOC are participating in a clinical trial of a drug intended to treat a rare pediatric disease called MPS IIIA. It’s a type of Mucopolysaccharidosis, or MPS, a genetic condition that causes physical abnormalities in young children and causes them to lose their neurological development.

Also called Sanfilippo syndrome, its early symptoms can mirror those of autism, but unlike autism, the patients don’t improve, instead gradually deteriorating until memories and even basic abilities are lost. Most Sanfilippo patients don’t survive to adulthood.

There is currently no cure.

“When we go into medicine, we come in thinking, ‘All right, I’m going to help my patients. I’m going to make them better,’ ” says Dr. Wang, a clinical geneticist and biochemical genetics specialist at CHOC for the past 12 years. “When you are faced with the prospect that you can’t help, or at least in the sense that you can’t make these kids better and cure them, that doesn’t sit well with me.”

Dr. Raymond Wang, CHOC clinical geneticist and biochemical genetics specialist

Phases II and III of the trial are being conducted by Lysogene, the French company that developed the experimental treatment. CHOC is one of four U.S. hospitals taking part; there are three such sites in Europe: in France, Germany, and the Netherlands. Lysogene is still enrolling patients and is seeking a total of 20.

Those patients are hard to find. In his decade of researching MPS and seeing patients, Dr. Wang estimates he’s only diagnosed 10 cases. Two of those children were siblings, and tragically both died of the disease. But Dr. Wang has enrolled one patient in the new trial.

Lysogene sought out Dr. Wang  for the trial because of his expertise in researching and diagnosing the various MPS types. If the Lysogene drug is eventually approved by the FDA, CHOC should become the first facility on the West Coast to be able to both diagnose the disease and administer the drug, which is surgically inserted into brain tissue.

It won’t be apparent until a checkup about six months after the procedure whether the drug is working.

“We are hoping to prevent regression at the least, or allow for developmental progression,” Dr. Wang said.

There have been seven different types of MPS identified: I, II, III, IV, VI, VII and IX, not counting the subtypes within them. The subtype MPS IIIA, Sanfilippo, strikes about one in every 100,000 children.

MPS is an inherited disease. All the types are collectively known as “lysosomal storage diseases.” Lysosomes are compartments in cells that break down molecules and remove waste products.

Normally, different enzymes in the lysosomes break down complex sugars called glycosaminoglycans, also known as mucopolysaccharides. In MPS, glycosaminoglycans are not broken down because of a deficiency in one of those lysosomal enzymes. As a result, the glycosaminoglycans accumulate in the cells and cause tissue damage.

Physical symptoms can include thickening of the lips and skin, enlarged liver and spleen, hernias, recurring ear infections, joint pain and stiffness, and shortness of stature. With Sanfilippo, which attacks brain cells, cognitive impairment could include delayed speech. Since by itself speech delay isn’t uncommon in children, Sanfilippo’s initial symptoms only add to the confusion for families.

In the first two to three years of a patient’s life, “there might not be any symptoms,” said Dr. Wang, director of CHOC’s Foundation of Caring Lysosomal Storage Disorder Program . “Nobody ever thinks ‘my kid has Sanfilippo,’ and few doctors think about it. But it starts to be around 3, 4, 5, when hyperactivity starts, and there are questions of autism, and usually what happens is a physician recognizes that kids with Sanfilippo look a little different.”

A treatment that has shown success for some kinds of MPS is enzyme-replacement therapy: delivering synthetic working enzyme using an intravenous solution. It can reduce the effect of symptoms and improve quality of life. But the treatment only works if the disease is not located in the brain; unfortunately, the life-threatening symptoms of Sanflippo are caused by effects of the disease in the nervous system.

Inside the brains of children with Sanfilippo syndrome, a waste product called heparan sulfate builds up, causing nerve damage and, over time, the death of nerve cells. The Lysogene drug includes a package called a “vector.” It contains genetic instructions that enable treated nerve cells to make the missing enzyme, called sulfo-hydrolase, which clears out the waste product.

“Short-term, you can measure things like, is the body producing sulfo-hydrolase enzyme; is there a reduction in heparan sulfate?” Dr. Wang says. “But the more important thing is, is this actually helping these children? What parents really care about is, is it helping their child’s neurologic function. Is my child not regressing? Is my child maybe even gaining developmental milestones back?”

Dr. Wang acknowledges that, as a younger doctor, he was fascinated by the diagnostic side, the “sleuthing” part of identifying patients with, and researching, MPS. But over time, after accompanying many MPS patients and their families along difficult and tragic journeys, he knows his motivations now have a higher purpose, beyond intellectual stimulation.

He reflects that his involvement in clinical trials for children with neurodegenerative conditions such as the Lysogene study is “a way for me personally to channel my feelings of helplessness when we diagnose someone with a supposedly incurable condition.”

“I know how painful it is for these families,” Dr. Wang says. “If I can give them the possibility of hope, then that’s what makes waking up each morning and heading to work worthwhile.”

Learn more about referring to CHOC’s metabolic disorders specialists.

CHOC receives $8 million to advance research for rare disorder

An $8 million gift from the Foundation of Caring will help CHOC advance research for a rare lysosomal storage disease, ultimately leading to an improved understanding and more effective treatments.

The gift will support CHOC researchers working to develop next-generation therapies for Pompe disease, a lysosomal storage disease wherein glycogen builds up in the body’s cells and causes life-threatening heart failure and muscle weakness in affected babies. In honor of the gift, the program will be named the Foundation of Caring Lysosomal Storage Disorder Program at CHOC.

“This incredibly generous gift from the Foundation of Caring will help accelerate our work to unlock the challenges of Pompe disease and other lysosomal storage disorders, advancing our vision to develop permanent cures for patients with these conditions,” said Dr. Raymond Wang, a CHOC metabolic disorders specialist and director of the Foundation of Caring Lysosomal Storage Disorder Program. “We’re so tremendously grateful to have the Foundation of Caring’s support in CHOC’s goal to protect the magic of childhood.”

Dr. Raymond Wang, CHOC metabolic disorders specialist, director of the Foundation of Caring Lysosomal Storage Disorder Program

Dr. Wang’s work around Pompe disease drew the attention of the Foundation of Caring several years ago, when he began treating the great-granddaughter of the Foundation’s founder after she was diagnosed with the condition.  

With previous support from the Foundation of Caring, Dr. Wang and his team have already made significant strides in its study of Pompe disease, having built a growing research team that’s used CRISPR/Cas9 technology to edit the genome to create animal models of Pompe disease. The Foundation of Caring’s gift will allow Dr. Wang and his team to expand upon this work and use CRISPR to cure Pompe disease and lysosomal storage disorders.

“We are so pleased to support the important work of Dr. Wang and his team at CHOC to help find better treatment or, even better, a cure for Pompe disease for patients affected by the condition worldwide,” said the Foundation of Caring Board of Directors.

Learn more about the Foundation of Caring Lysosomal Storage Disorder Program at CHOC.

CHOC performs first in-human gene therapy dosing for MPS I

Physicians at CHOC Hospital recently administered the first ever in-human dosing of gene therapy for Hurler Syndrome, the severe form of mucopolysaccharidosis type I (MPS I), a rare and progressive lysosomal storage disease.

If ultimately successful, the gene therapy could present an alternative treatment for Hurler Syndrome, which currently calls for a stem cell transplant for children younger than 2 ½. While stem cell transplants are well-proven to help prevent most of the neurologic decline that happens to untreated MPS I patients, the procedure poses significant risks.

Patients with MPS I have a genetic mutation that leads to a deficiency in alpha-L-iduronidase. This enzyme helps break down chemicals called glycosaminoglycans, specifically dermatan and heparin sulfate, the buildup of which can ultimately cause enlarged organs and tissues, heart valve thickening, spinal cord compression, hydrocephalus and progressive loss of intellectual milestones.

The hope is that the gene therapy – RGX-111, which is produced by REGENXBIO Inc. – will equip the patient’s brain cells with the information needed to make working alpha-Liduronidase enzyme to stop the glycosaminoglycans from building in the brain, says Dr. Raymond Wang, a CHOC pediatric metabolic disorders specialist and the study’s lead investigator.

The procedure required five months of planning across disciplines at CHOC, including pediatric metabolic disorders, radiology and imaging, nursing and pharmacy, the pediatric intensive care unit and the CHOC Research Institute, as well as additional radiology expertise from another institution and support from REGENXBIO.

The therapy was administered through a cervical puncture in the neck. With three-dimensional visualization and guidance from a computed tomography scanner, CHOC interventional radiologist Dr. Tammam Beydoun carefully inserted the needle into the fluid-filled space at the junction of the spinal cord and brain stem. Then, Dr. Wang administered the gene therapy.

(From top left, clockwise) Investigational pharmacist Winnie Stockton, radiology technologist Lesley Mercado, radiology technologist lead Nadia Casarrubias-Garcia, clinical research coordinator Eric Rodriguez, clinical research supervisor Nina Movsesyan, director of imaging services Windy Broking, pediatric metabolic disorders specialist Dr. Raymond Wang, interventional radiologist Dr. Tammam Beydoun and radiology medical director Azam Eghbal are part of the large team at CHOC who facilitated the procedure. The team also includes members of the radiology scheduling, information systems, health information management, research and nursing teams.

“I could not have asked for a better implementation of everything we had planned for many months,” Dr. Wang says. “I am so grateful for such an awesome team of people working together for one common goal.”

Dr. Wang says the patient will be monitored indefinitely, with clinicians tracking the child’s cognitive and physical development, as well as measuring the quantity of alpha-L-iduronidase in the child’s body and spinal fluid to determine whether glycosaminoglycans dermatan and heparin sulfate are being broken down.

“I cannot guarantee if the gene therapy is going to work, but the alternative was to watch and let this patient get worse and worse and worse,” said Dr. Raymond Wang. “We’ve got to try something.”

Babies with MPS I show no signs of the condition upon birth. To this end, MPS I was added to the list of conditions tested for in California’s Newborn Screening Program in 2018. But even with enzyme replacement therapy treatment, recommended to begin before age 2, the disease continues to progress, Dr. Wang says.

“Patients will reach a plateau in developmental milestones, and then they’ll start losing milestones,” he says. “Once they could speak, they lose the ability to speak. Once they were able to walk, they lose ability to walk. Then it gets to be really heartbreaking: Once they could eat, then they can’t eat anymore.”

Many patients ultimately rely on feeding tubes, while often enduring airway problems, cardiac disease and hydrocephalus. Quality of life is typically poor, Dr. Wang says.

Not only could a successful outcome in this investigation dramatically change the course of a patient’s life, but it could also pave the way for future gene therapy for additional patients with rare diseases at CHOC, Dr. Wang says.

“This is an opening chapter for a very cool story,” Dr. Wang says.

Learn more about research at CHOC.

From the Nursing Frontline of the Batten Disease Battle

When the neuroscience unit nurses at CHOC Hospital discovered that teen patient Maya loved to crack people up, they knew a joke book would be the perfect gift.

Compared to the life-changing treatment Maya is receiving at CHOC Hospital, a book is a very small token. But as partners in this journey, CHOC nurses say it’s the very least they can do.

Maya is among nine patients receiving a novel treatment for CLN2 disease, or late infantile Batten disease at CHOC. The group comes every two weeks for an infusion of Brineura, a drug that replaces a deficient enzyme.

The CHOC team has just celebrated the second anniversary of the first infusion, having clocked more than 300 procedures in the last 24 months. Since CHOC began offering the treatment in spring 2017, the number of patients has more than doubled, says Dr. Raymond Wang, a pediatric metabolic specialist and the program’s medical director.

Dr. Raymond Wang, medical director, and Susan See, Neuroscience nurse manager
Dr. Raymond Wang, medical director of the Batten disease treatment program, and Susan See, neuroscience unit nurse manager

Among the handful of institutions nationwide offering the treatment, CHOC’s program is the largest.

Despite the juggling act of placing patients, made especially tough during high wintertime patient census, CHOC nursing leadership has helped ensure these patients have never missed a procedure.

Nurses play an integral role in the procedure, assisting pediatric neurosurgeon Dr. Joffre Olaya in inserting a needle through the skin of the patient’s skull and into an Ommaya reservoir implanted beneath the flesh to reach the fluid surrounding the brain.

The procedure is conducted inside the patient’s room on CHOC’s neuroscience floor. During the procedure and afterward as they monitor the patients, the nursing team is in frequent, close contact with the children – and their parents.

“Because of this, we know how some parents take their coffee, which brand of diapers they prefer, and how the families gather to talk after treatments,” says Alison Cubacub, a clinical nurse II in CHOC’s neuroscience unit.

They also know how life-changing the treatment is for families.

Before Brineura clinical trials and its ultimate approval by the U.S. Food and Drug Administration, this small group of patients and their families endured a long odyssey of poring over Internet pages, making endless phone calls, and traveling the country in hopes of finding treatment for the devastating diagnosis that is Batten disease.

The rare and fatal neurologic condition typically begins with language delays and seizures before age 3, and rapidly progresses to dementia, blindness, loss of the ability to walk and talk, and death in childhood.

But Brineura has shown to slow the disease’s progression. Over a three-year period, patients treated during clinical trials showed no advancement of the disease, which was radically different from the disorder’s natural course. The medication improves quality of life and buys patients critical time as researchers continue to search for a cure.

Before, Southern California patients traveled every 10 days from their homes to Columbus, Ohio, to receive treatment as part of a clinical trial. Aside from the inconvenience, the process split apart families. But now, they need only drive a few miles to CHOC for a few hours of treatment.

And while it can’t compare to the relief felt by patients and families, CHOC’s neuroscience nursing team is invigorated by the professional growth that’s been afforded to them as a result of CHOC offering the treatment.

“The science and research that went into developing this treatment is fascinating,” says Melissa Rodriguez, RN, BSN, CPN, a clinical nurse III in CHOC’s neuroscience unit. “To assist in its administration, we participated in an in-depth study that included literature about the procedure and the condition, as well as extensive training in the sterile procedure required to infuse the medication.”

CHOC at forefront of treating Batten disease

Bringing new hope to patients and their families, CHOC is now among a few hospitals in the country to offer treatment for a rare genetic brain condition that has previously been considered a death sentence for children.

CHOC has been fast tracked to commercially provide Brineura, the first and only treatment for CLN2 disease, also known as late infantile Batten disease. The condition typically begins with language delays and seizures before age 3, and rapidly progresses to dementia, blindness, loss of the ability to walk and talk, and death in childhood.

Bringing Brineura to CHOC is the product of three years of work by metabolic specialist Dr. Raymond Wang.

Dr. Raymond Wang, who treats patients with Batten disease, stands in lab looking over papers
Dr. Raymond Wang, CHOC metabolic specialist

“This is huge,” Dr. Wang says. “You’re taking a progressive and fatal disease and stopping it. Having seen how heartbreaking it is for families to see the child they know get slowly robbed from them, the fact that we can offer these families hope, is tremendous. Something like this is the very reason I went into medicine and specialized in metabolic disorders: to provide hope to families affected by rare disorders such as late infantile Batten disease.”

Dr. Wang works closely with CHOC neurosurgeon Dr. Joffre Olaya to administer the medicine. Each patient has an Ommaya reservoir implanted under their scalp, which allows the medicine to be infused directly into their brains.

In a sterile procedure every two weeks, Dr. Olaya and a team of highly trained nurses insert a needle into the reservoir to administer the medication. The infusion lasts four hours, and after four hours of observation, the patients can go home.

While not a cure, the drug can slow the progression of the disease. Over a three-year period, patients treated during clinical trials showed no progression of the disease, which was radically different from the disorder’s natural course. The medication improves quality of life and buys patients critical time as researchers continue to search for a cure.

Having the treatment available close to home is a game changer for the Bowman family.  A participant in the clinical trial, Ely Bowman, 4, would travel every 10 days with his parents from Orange County to Columbus, Ohio, for treatment.

But now, the Bowmans need only to drive a few miles to CHOC for this critical treatment.

“For Ely to be home and have consistency and we can still have some fun is wonderful,” his mother, Bekah, says. “We can see him thriving.”

Learn more about CHOC’s metabolic disorders division and the CHOC Neuroscience Institute.

Refer a patient for a metabolic disorder evaluation.

CHOC Metabolic Specialist Profiled in Science Magazine

The work of a CHOC metabolic disorders specialist and is highlighted in a recent Science magazine article.

The article hinges on Dr. Raymond Wang’s work to help a patient with a rare condition called Niemann-Pic Type C, a condition that causes cholesterol to accumulate in the brain, lungs, liver and spleen, leading to deterioration and early death.

Not only is the young girl doing well after Dr. Wang began an experimental treatment, but her family’s foundation also provided funding that allowed Dr. Wang to continue research that could help children with a rare metabolic diseases called mucopolysaccharidoses, or MPS.

To that end, the piece examines the tug of war felt by some physicians when balancing patient care and research. Despite a physician’s strong interest and commitment, research eludes many due to a lack of time and funding.

Read the full article in Science magazine.

Meet CHOC’s Specialists: Metabolic Disorders

It should come as no surprise that Dr. Jose Abdenur’s favorite fictional M.D. is Gregory House, television’s sleuthing physician known for deducing elusive diagnoses.

After all, Dr. Abdenur serves as chief of CHOC Metabolic Disorders Division, which specializes in diagnosing rare conditions that reMetabolic groupquire hours of unraveling symptoms, researching cases and analyzing data to give parents long-sought answers to what’s ailing their child.

“What we do often begins a life-long treatment,” says Dr. Abdenur. “These conditions create a bond with the family and our staff.”

Dr. Abdenur leads a group of about 20, including himself and two other physicians: Richard Chang, M.D. and Raymond Wang, M.D. Comprised of a clinical team and laboratory team, CHOC’s metabolic disorders division is large compared to other similar divisions at other hospitals, and remains in high clinical demand, the physicians say.

The division’s most commonly treated conditions are glycogen storage diseases, mitochondrial disorders, urea cycle defects, fatty acids oxidation defects and organic acidemias. CHOC metabolics is also the largest referral center in California for metabolic diseases detected by newborn screening.

And the division continues to expand: In mid-January, the division opened a new laboratory focusing on energy metabolism. There, researchers will study patients who have defects in energy production, underscoring the division’s commitment to broadening its understanding of metabolic disorder subsections.

A team- and family-centered approach

A core principle for the division is teamwork. No matter their position, each member of the division plays a vital role in diagnosing and caring for children with rare, often lifelong conditions, Dr. Abdenur says.

“We can’t do what we do without dieticians, genetic counselors and case managers for every single case,” he says. “We need everyone.”

Weekly, the team sees about 45 patients on an outpatient basis, operating several clinics, including the multidisciplinary lysosomal and neurometabolic clinics. The division treats between five and 10 patients a week on an in-patient basis.

Persistence is a chief value for the division. Tenacity is essential because the path to diagnosing a metabolic disorder can be a long and hard, and sometimes a dead end, says Dr. Abdenur.

“I never tell a family that for sure I’ll find out what’s wrong, but for sure, we will look as hard as we can,” he says.

Metabolic disorders physicians are sometimes charged with telling parents nothing more can be done for their child’s condition. And though not ideal, that news can bring solace to a parent, Dr. Abdenur says.

“Even when they know there is nothing more to do, there is a relief,” he says. “That way, they’re not still always wondering if they’re missing something.”

Recognizing that, the division places a keen focus providing family-centered care: Close parental involvement is key during diagnosis and treatment, which often lasts a lifetime. The division also hosts regular family events to provide education and activities for patients and families, as well as nutritionally appropriate treats and recipes.

A focus on research and education

While patient care is the top priority for the division, research and education also remains a central focus for the division.

CHOC metabolics partners with UCLA, Cedars Sinai and Harbor UCLA in a post-graduate program that offers genetics research training opportunities and is supported in part by a grant from the National Institutes of Health. Dr. Abdenur serves as its program director for medical biochemical training programs, and training director for clinical biochemical genetics.

The division also has a relatively new fellowship program. The program is designed to help train future metabolic disorders specialists, says Dr. Chang, noting that in the last round of metabolics certifications, fewer than 20 specialists earned the distinction nationally.

“Metabolics is a specialty that not all children’s hospitals have, and we’re trying to help improve access by training people in the field,” says Dr. Chang. “We’re trying to compensate for the shortage of metabolics physicians.”

The division is also working to broaden metabolics knowledge for CHOC nurses. An upcoming one-day conference made possible by the donation of a family of a metabolics patient will offer nurses more information about various metabolics disorders, as well as insight into the plights of patients and their families.

This is one in an occasional series introducing CHOC specialists. Learn more about how to refer patients to CHOC.