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.

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.

Ely receiving an infusion at CHOC
Ely receiving an infusion at CHOC

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.

“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.

Max asleep with Choco teddy bear
Three-year-old Max and his family travel to CHOC from Northern California every two weeks for treatment for Batten Disease.

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.”

Dr. Raymond Wangs gives patient Ely a high-five
Dr. Raymond Wangs gives patient Ely a high-five

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.

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 bellyflopping 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.

The team at CHOC say goodbye to Ely and his family before they moved to Idaho
The team at CHOC say goodbye to Ely and his family before they moved to Idaho

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, Susan 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 plays at CHOC while receiving treatment for Batten disease
Max plays at CHOC while receiving treatment for Batten disease

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 metabolic disorders program.

A lifelong battle with a rare disease: Caleb’s story

When Caleb was born, his parents were thrilled to grow their family with a healthy baby boy. The first two years of Caleb’s life were typical and the family of four enjoyed spending time together.

Three years later, his mother’s keen eye and a pediatrician’s intuition ultimately led to an unexpected diagnosis that would alter the course of his family’s future.

Journey to a life-changing diagnosis

At Caleb’s 3-year well-check, his mom Marie noticed he’d begun to walk oddly, and she mentioned it to his pediatrician. That doctor performed a physical exam and noticed the bones in Caleb’s chest weren’t growing as they should have been, so he ordered X-rays of his chest and hips which eventually came back normal.

“I still remember when we got the clear X-rays and our pediatrician told us, ‘I still think there is something wrong with Caleb. I don’t know what it is yet, but we are going to find out’” Marie recalls. “I knew he had been a pediatrician for decades and treated thousands of children and I trusted his instinct. That is when the process really began, and every moment counts when you’re searching for a diagnosis.”

Caleb’s pediatrician referred him to Dr. Touran Zadeh, medical director of genetics services at CHOC. Through a blood sample and testing, she was able to diagnose Caleb with mucopolysaccharidosis (MPS) type II, a rare lysosomal storage disease.

What is MPS II?

Six out of 1 million children are diagnosed with MPS II. The lysosomes in each cell are required to get rid of the cellular waste that each cell produces. Caleb’s lysosomes do not work properly, so his body cannot eliminate the cellular waste. His body stores the waste in his joints, bones, heart, liver and lungs — almost every organ system in his body is affected.

There are seven types of MPS, all of which are inherited and can share very similar physical symptoms. The physical symptoms may include thickening of lips and skin, enlarged liver and spleen, hernias, recurrent ear infections requiring ear tube placement, joint pain and stiffness, and short stature. Neurological symptoms are present in some types of MPS and may vary in severity.

Meeting his care team

“Within a few days, we were in CHOC’s metabolic clinic and meeting Dr. Raymond Wang, a metabolic disorders specialist,” recalls Caleb’s dad Rory. “It felt like our world was crumbling down. Our dreams for Caleb were crushed. But we knew that Dr. Wang had a tremendous amount of compassion; he was so concerned for Caleb.”

Caleb and Dr. Wang at CHOC
Dr. Wang and Caleb

In the metabolic clinic, the family found the comfort they had been seeking.

“The moment we walked into CHOC, I finally felt comfort,” Marie says. “Our metabolic nurse was very friendly and concerned about us.”

Rory adds, “When we walked into the patient room, we weren’t just another number. We had all these experts in one room, but they also had really big hearts.”

Over the past 11 years, the family has since formed a special bond with each of the doctors on their care team, but especially with Dr. Wang.

“Dr. Wang was there to encourage and comfort us,” Rory says. “Our faith also helped bring us through the storm.”

Navigating life with MPS

A few months after Caleb’s diagnosis, his team placed a port-a-cath in his chest to accommodate his weekly infusion treatments. Caleb receives a four-hour enzyme replacement treatment every week to help eliminate the buildup of cellular waste in his body. This treatment helps patients with MPS II but is limited to only reaching soft tissue such as the liver, spleen and kidneys; it does not reach the joints, spine or brain.

For the first year, he received this treatment at The Dhont Family Foundation Outpatient Infusion Center at CHOC Hospital. To help comfort Caleb and get him through the treatments, the staff would give him a new toy every week.

“When we transitioned to receiving weekly infusions at home under the care of a home health nurse, Caleb was so used to getting a new toy every week that we decided to start buying him toy cars,” Marie says. “He has collected over 125!”

Around that time, Caleb was also placed on two heart medications to treat a thickening valve and enlarged heart, which is a part of MPS II. The medications Caleb started taking at age four are typically prescribed to adults. Dr. Anthony Chang, a pediatric cardiologist and CHOC’s chief intelligence and innovation officer, sees Caleb every three to six months.

“Putting our toddler on multiple heart medications was devastating,” Marie says. “I would hide his heart medicines in Cheerios just to get him to take them.”

Dr. Aminian and Caleb
Dr. Aminian and Caleb

Over the last 11 years,  Caleb has had a number of surgeries and procedures at CHOC, including hernia repair; removing his adenoids and tonsils with Dr. Gurpreet Ahuja; double knee surgery with Dr. Afshin Aminian; MRIs and ultrasounds to monitor his enlarged liver, kidneys and spleen; and additional MRIs of his head, heart and spine to monitor the buildup of cellular waste.

Dr. Ahuja and Caleb
Dr. Ahuja and Caleb

He’s also under the care of Dr. Anchalee Yuengsrigul, CHOC’s medical director of pulmonology. Most recently, Dr. Yuengsrigul helped educate Caleb’s family on how to protect Caleb from COVID-19 given his pre-existing conditions.

Dr. Yuengsrigul and Caleb
Dr. Yuengsrigul and Caleb

A parent’s perspective

Although Caleb never developed a fear of going to the doctor despite a childhood filled with doctor’s appointments, sometimes when he was younger, he would tell his parents that he was tired of all the doctor visits.

“As a mom that was hard for me to hear because I couldn’t tell him, ‘We can take a break’ because he will be doing this for the rest of his life,” Marie says. “This disease is life-limiting and life-threatening.”

Rory echoes that strain of wanting to make your child’s pain go away and not being able to do so.

“Dads are supposed to fix everything, and moms are supposed to make everything feel better. And when you don’t have the ability to do that, our faith was the only place we could go,” Rory says.

Rory also encourages parents to be mindful of the places they seek out information online.

“It’s important for parents to be careful about what they look at on websites. When we got our diagnosis, we found a lot of scary information online and we were already dealing with getting bit by this diagnosis,” he says. “Always go back to your physician for up-to-date information on your child. Researching online may create more anxiety. These physicians know your child, and they know where to direct you for accurate information”

Two years ago, Caleb’s MPS spread into his eyes.

“That was a blow to us. With MPS, you have times of calmness for a while and then devastating news comes. We take one day at a time, or even one step at a time,” Marie says. “As parents, you get these windows of calm waters, and we have learned to take advantage of those as a time to recharge because you never know the next wave is coming.”

Focusing on what’s most important

Becoming busy with everyday life can make it easy to get swept up in stressors that don’t really matter in the end, Rory says.

“Instead of focusing on to-do lists, I try to focus on, ‘Do my kids know I love them today? Does my wife know I love her today?’”

Marie shares that the family sees every day as a gift of life

“Early on, we learned that every day and every year we had with Caleb was precious. Every birthday is special – we go all out and shower him with gifts and love,” she says. “We live life to the fullest because none of us know what tomorrow will bring.”

Caleb’s life today

Caleb, who is now 14 years old, is an avid runner, something he started when he was 7 years old. His story offers hope, inspiration and courage to others daily.

“Running with MPS is very challenging. Someone who has MPS typically struggles with joint stiffness and pain.  It bears some similarities to arthritis,” Dr. Raymond Wang says.

Caleb is also an avid hiker and has climbed tall mountains at a variety of national parks across the country with his family. He exercises every day, whether it’s riding a stationary bike, running or lifting weights. He also enjoys horseback riding, whitewater rafting and hiking.

Caleb-and-family-on-vacation
Caleb with his family on vacation.

“Daily exercise has kept him mentally healthy and helped him physically as well,” Marie says. “Early on, his doctors told us to keep his joints flexible so that someday, when and if there is a cure, he will be ready for it. We try to keep Caleb as healthy as we can. That is why exercising is so important.”

In addition to daily activity keeping Caleb physically and mentally strong, his parents want to ensure he never feels limited by MPS.

“You cannot allow this disease to dictate your life. Of course, we have to be mindful of limitations that his doctors tell us, but there is still life to be lived,” Rory says.

Giving back to CHOC’s

In 2014, Caleb and his family joined CHOC Walk in the Park. Their team has grown in size every year since.

“For all that we had been blessed with by CHOC, we wanted to give back and help support other families,” Marie says.

Rory adds, “As a patient, you’re on the receiving end. We wanted to be on the giving end. We give back because we want Caleb to be a part of helping to find a cure and helping other families in some way.”

Caleb’s gotten creative in the past with various fundraising efforts including an ice cream fundraiser, but these days, Caleb is running as to raise funds. This summer, he ran 78 miles – or roughly the equivalent of three marathons – to raise money for CHOC.

“We were so proud of Caleb. He was dedicated to getting up early and going running,” says Marie, who adds that sometimes family members would join Caleb for runs.

“Running is important for our mental health as a family,” Rory says. “His doctors have told us that fresh air is great for him and being outdoors helps him as well.”

Caleb’s advice

“Although my journey with MPS has been a difficult one, I have learned to meet each day with courage and gladness and make the most of the opportunities I do have,” Caleb says. “To those who have just begun their battle with MPS, I would say to have courage, never give up and continue to press on. To those who have been battling MPS or another disease for a long time, I would remind them that you cannot do this alone. You need people around you like your family, friends, nurses, doctors and even your faith to give you courage and comfort. I have been on my journey for 11 years now and it is not easy. The journey has taken lots of courage, endurance and patience. For me personally, my faith has equipped me with courage and given me much comfort and hope, knowing that God has a plan for my life.”

CHOC rare disease expert stresses importance of newborn screening

From just a tiny sample of blood, a lab can test for 35 rare diseases in newborns that if left undetected could lead to seizures, developmental delays, permanent brain damage or death.

September is Newborn Screening Awareness Month and Dr. Jose Abdenur, director of CHOC’s metabolic laboratory, stresses the importance of these newborn screenings in order to prevent such grim scenarios from playing out.

Newborn screening is a public health program that screens all babies for many serious but treatable genetic disorders, and the CHOC metabolic laboratory is one of the state’s largest referral centers for the program. All babies born in California are required to get screened soon after birth, but the diseases babies are screened for varies by state. In Orange County alone, some 38,000 babies are born every year.

CHOC is the only location on the West Coast for children who need cutting-edge treatment for certain metabolic disorders that can be detected from newborn screenings. Further, CHOC’s metabolics program is a leading destination for children from around the world afflicted with certain metabolic disorders, which are rare genetic disorders that result from a missing or defective enzyme in the body. These include disorders such as galactosemia, which impairs the body’s ability to process and produce energy from the sugar galactose, and adrenoleukodystrophy, which causes the buildup of very long-chain fatty acids in the brain.

“There are many, many very good success stories at CHOC, but there are still many things we can improve,” Abdenur says, citing too many false positives for some conditions that make families feel anxious and worried. “But we continue to get better at this.”

Newborn screening began in the 1980s. Over the decades, the Department of Health and Human Services has added recommended disorders for states to screen for in their newborn screening (NBS) programs. There now are 35 core conditions on the so-called Recommended Universal NBS Panel, as well as an additional 26 secondary conditions.

In addition to metabolic disorders, newborn screening can detect disorders related to hematology and immunology — such as sickle cell disease — as well as endocrine disorders, pulmonary diseases including cystic fibrosis, and such neurological conditions as spinal muscular atrophy.

Searching for hope while living with a rare disease

Rocio Macias was driving when her 4-year-old daughter, Isabella, coughed from the backseat.

“Are you OK?” Rocio asked.

“I’m OK,” Isabella answered with a giggle.

While likely mundane for many parents, this exchange is the stuff dreams are made of for Rocio, the mother of a child with a devastating rare disease.

“She’s doing well – she’s trying to talk a lot more,” Rocio says. “I see things physically too – she doesn’t fall as much as she used to. She doesn’t bang her head much anymore.”

Isabella is in the early stages of a clinical trial at CHOC that will evaluate a drug intended to treat a rare pediatric disease called MPS IIIA. The condition is 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. Unlike autism, though, the patients don’t improve. Instead, they gradually deteriorate until memories and even basic abilities are lost. Most Sanfilippo patients don’t survive to adulthood.

“You ask, ‘What is that? What can I do? What can be done?’ For this one, there’s no cure. And you just cry,” Rocio says.

But Rocio found a glimmer of hope in the trial, Dr. Cristel Chapel-Crespo, Isabella’s CHOC metabolic specialist at CHOC, and Dr. Raymond Wang, also a CHOC metabolic specialist who is the director of CHOC’s Foundation of Caring Lysosomal Storage Disorder Program.

Joining the clinical trial

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, with several other sites in Europe.

Those patients are hard to find. In his decade of researching MPS and seeing patients, Dr. Wang estimates he’s only diagnosed 10 cases. However, given the deep heartbreak that Sanfilippo syndrome can cause with parents of affected children, Dr. Wang sought out Lysogene as a partner to provide families with access to clinical trials – and hope.

Lysogene, in turn, 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 U.S. Food & Drug Administration, 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.

For Isabella, participating in the study meant traveling to New York, where she received the medication in June 2019.

Following a seven-hour surgery, Isabella spent a night in the hospital’s intensive care unit. The family stayed in New York for another week of tests, and then returned home.

After one more check-up in New York, the family began follow-up treatment in December much closer to home at CHOC with Drs. Chapel-Crespo and Wang, and will continue to do so every three months for five years.

“She has no after-effects at all from the surgery, is happy and doing well,” Dr. Wang says, adding that Isabella will continue to take anti-rejection medication throughout the first year of the study.

“We are hoping to prevent regression at the least, and ideally see developmental progression,” he says.

The effects of Sanfilippo

MPS IIIA, or Sanfilippo, is a subtype of MPS that affects about one in every 100,000 children. Overall, seven different types of MPS have identified: I, II, III, IV, VI, VII and IX, not counting the subtypes within them.

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 a 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,” Dr. Wang says. “Nobody ever thinks ‘My kid has Sanfilippo,’ and few doctors think about it. But it starts to be around age 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 mother’s instinct

Rocio began noticing some symptoms in Isabella when the toddler was about 2. Rocio thought she could explain Isabella’s unsteady walk and slow speech, but that her daughter wouldn’t outstretch her arms to catch herself when she stumbled was especially alarming.

“As a parent, you start looking around at the other kids in the class and think, ‘Is there where the other kids are too?’” Rocio said. “I never looked at it like something was wrong – I just thought she was delayed.”

As Rocio pursued speech and physical therapy for Isabella, CHOC otolaryngologist Dr. Kevin Huoh was separately evaluating Isabella for her snoring. After observing some of Isabella’s physical features, Dr. Huoh quickly referred the family to CHOC’s genetics team. Subsequent genetic testing revealed her condition.

Learning the diagnosis was devastating for Rocio. After taking the call in an empty office at work and bursting into tears, she needed to leave early for the day, she recalls. With her husband in an all-day training, Rocio was forced to deliver the news by text message.

The medication’s hope

The news was made especially frightening when the couple learned there was no treatment for Sanfilippo.

While enzyme-replacement therapy has successfully treated some types of MPS, it only works if the disease is not located in the brain. Unfortunately, the life-threatening symptoms of Sanfilippo 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 relevant question is, is the investigational treatment actually helping these children? What parents really care about is, Is it helping my child’s neurologic function? Is my child not regressing? Is my child progressing normally? If there were lost developmental milestones, is my child maybe even gaining them back?”

Moving forward

While Rocio has already anecdotally noticed some improvements in Isabella, time will tell whether the drug is truly effective. In the meantime, the family has found additional support through the rare disease community. They attended a local event for families impacted by MPS. Isabella was the only child with MPS IIIA.

They’ve also found some solace online, though Rocio participates only in measured doses.

“It’s hard. Sometimes I tell my husband I don’t want to follow the groups anymore,” she says. “People post when someone passes away – and it seems like that happens every day. The other day it was an 8-year-old, and you think, ’Shoot, Isabella is 4,’ and that’s heartbreaking. But then someone posts about a 27-year-old and that gives me hope.”

Rocio also continues to take her family’s journey one day at time – after all, she’s adjusting a new reality of parenting a medically complex 4-year-old as well as a 2-year-old daughter, who is not a carrier for Sanfilippo.

“I went from having a life to having a totally different life,” she says.

Three gifts support mental health, research and neonatal care

CHOC is so grateful to recently have received three very generous gifts that will help CHOC continue to care for more than 185,000 babies, kids and teens each year. CHOC believes that all children deserve a chance at a happy, healthy childhood.

Transformational gift to benefit the pediatric mental health system of care

CHOC received a transformational gift from the Cherese Mari Laulhere Foundation to enhance and expand its pediatric mental health system of care. The announcement comes on the heels of the Conditions of Children in Orange County report, which highlights alarming increase in the number of children hospitalized in the county for mental illness.

The gift from the Cherese Mari Laulhere Foundation will:

  • Endow CHOC’s mental health inpatient center. Opened in April 2018 for children ages 3 to 17, the center is the only inpatient facility in Orange County that offers specialized programs for kids younger than 12. The center will now be named the Cherese Mari Laulhere Mental Health Inpatient Cente
  • Establish the Cherese Mari Laulhere Young Child Clinic for children ages 3 to 18 who are experiencing behavioral and emotional challenges, mental health issues and school readiness challenges.
  • Expand CHOC’s Intensive Outpatient Program, a mental health treatment program for high schoolers with moderate to severe symptoms of anxiety, depression or other symptoms related to mental health conditions. The program will be expanded to middle school-aged children.
  • Advance trauma-informed care, including providing tools to pediatricians to help in identifying adverse childhood experiences, and connecting patients and families with resources.
cherese
Cherese Mari Laulhere

“Our donations are gifts from our daughter, who brought so much light and love into this world. As someone who advocated for the underserved, Cherese would be very proud of her role in supporting CHOC’s mental health efforts and helping change the trajectory of thousands of young lives,” says Cherese’s parents, Chris and Larry.

Learn more about this gift to CHOC.

$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.

The work of Dr. Raymond Wang, a CHOC metabolic disorders specialist and director of the Foundation of Caring Lysosomal Storage Disorder Program, drew the attention of the Foundation of Caring several years ago when Dr. Wang began treating the great-granddaughter of the Foundation’s founder after she was diagnosed with Pompe disease.

raymond-wang-md
Dr. Raymond Wang, a CHOC metabolic disorders specialist and director of the Foundation of Caring Lysosomal Storage Disorder Program

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,” says the Foundation of Caring Board of Directors.

Learn more about this gift to CHOC.

$2 million to CHOC’s neonatal intensive care unit

Newborn babies requiring critical care have gained a big ally in the William, Jeff and Jennifer Gross Foundation. A recent $2 million gift to the neonatal intensive care unit (NICU) on CHOC’s main campus in Orange rounds the Foundation’s support of CHOC’s neonatal services to $7 million in the past year.

choc nicu

Many hospitals offer intensive care units but only a select few are rated by the American Academy of Pediatrics as Level 4 – the highest rating available – and even fewer are ranked among the best in the nation, according to U.S. News & World Report. CHOC’s program features three NICUs, a team of board-certified neonatologists and special units for the smallest preemies, infants who need complex surgery, and babies who have neurological and cardiac concerns.

“CHOC’s neonatal services are unlike anything else offered on the West Coast, providing the highest levels of care and tremendous hope to families in the region. We are honored to continue our commitment to CHOC and the care of newborn babies,” says Jeff Gross.

Learn more about this gift to CHOC.