Three gifts support mental health, research and neonatal care

CHOC Children’s 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.
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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 Children’s.

$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 Children’s.

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.

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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 Children’s.

$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.

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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 Children’s.

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Overcoming Epilepsy: Gabriel’s Story

Thick blankets covered the tables in Joe and Nicole Lucak’s New Mexico home to protect their young son who was living with epilepsy. The couple placed a soft cloth over every surface to protect their son Gabriel when he’d suffer a seizure and fall.

On bad days, Gabriel would experience up to 50 seizures. On a good day, it might be just 10. On any day though, this reality was devastating for his parents.

“It was like living out a surreal nightmare,” Nicole says.

Gabriel had been a healthy, normally developing child until age 3, when he experienced his first tonic-clonic seizure, the type of seizure typically depicted in movies when a person first loses consciousness, then falls to the ground and begins jerking and shaking.

Searching for answers

Gabriel was initially diagnosed at his local hospital with myoclonic-astatic epilepsy, also known as Doose syndrome. His seizures were difficult to control, and doctors attempted many different treatments, including eight months on a special ketogenic diet. During this time, Gabriel was hospitalized numerous times to modify his medication and control his seizures.

A low point for the Lucak family came about nine months after the seizures began. While hospitalized for respiratory syncytial virus, Gabriel’s seizures increased significantly. An electroencephalogram (EEG) recorded seizures occurring about once a minute and a slowing brain wave frequency. Magnetic resonance imaging (MRI) revealed decreased brain volume. Gabriel’s health was rapidly deteriorating.

Joe and Nicole desperately began looking elsewhere for help, and found a beacon of hope nearly 1,400 miles away in Dr. Mary Zupanc, a CHOC Children’s pediatric neurologist and one of the nation’s leading epileptologists, who was practicing in Wisconsin at the time.

Under Dr. Zupanc’s care, Gabriel began a new treatment program. He stopped following the ketogenic diet and began taking a new antiepileptic medication. He underwent a two-week long-term video EEG monitoring study, which revealed he was experiencing a fifth type of seizure during sleep.

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A new diagnosis

Dr. Zupanc then knew that Gabriel’s epilepsy had evolved into a more severe form called Lennox-Gastaut syndrome (LGS). This rare type of epilepsy is marked by seizures that are difficult to control, and typically persist through adulthood.

She also diagnosed Gabriel with cerebral folate deficiency, a rare metabolic condition, following a spinal tap and extensive testing on his cerebral spinal fluid. He immediately began taking a folinic acid supplement and following a strict dairy-free diet.

Under this new treatment plan, Gabriel was seizure-free within two months. A second spinal tap showed a normal level of folate, and another MRI had normal results. The Lucaks were thrilled.

“Gabriel could have suffered severe brain damage, or he might not have survived at all,” Nicole says. “That’s how critical it was for us to have found Dr. Zupanc when we did.”

A bright future

Today, Gabriel is an intelligent, creative and artistic 13-year-old who dreams of being a paramedic when he grows up.

After regularly traveling from San Diego, where the family now lives, to the CHOC Children’s Neuroscience Institute and its level 4 epilepsy center for appointments and follow-ups, Gabriel has had several normal EEG studies and has successfully weaned off his anti-epileptic medication with no seizures.

Because of this, Dr. Zupanc believes Gabriel’s epilepsy is in remission. Now, he no longer needs to always carry emergency medication – a development that is life-changing for Gabriel and his family.

“All restrictions and seizure precautions have been lifted,” Nicole says. “So, Gabe looks forward to driver’s education in the near future. He will no longer need to have long-term video EEG monitoring performed each year. No more medical ID necklace. No more Diastat in my purse. No more Diastat kit in the school’s health room.”

Gabriel is also under the care of Dr. Jose Abdenur, chief of CHOC’s metabolics disorders division. Gabriel, his younger brother and his parents have all participated in several research studies involving genetic testing for both epilepsy and cerebral folate deficiency. Results of the epilepsy study found no predisposition to epilepsy.

Learn more about the CHOC Epilepsy Program

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CHOC’s Specialized Metabolics Team Treats Rare Genetic Disorder

CHOC Children’s highly specialized metabolics team identifies rare and dangerous genetic disorders before it’s too late. And early, non-invasive screening is a big reason why Henry Louderback celebrated his fourth birthday last year.CHOC metabolicsHenry was one of 100,000 kids diagnosed each year with tyrosinemia type I, a deficiency of an enzyme that, if untreated, causes liver failure and death. As one of the largest designated newborn screening centers in California, CHOC was able to save Henry, whose medication and diet will prevent the serious and life-threatening complications of the disease.

“He was losing some weight but no huge alarms went off,” Nicole Louderback, Henry’s mother, says of his condition shortly after he was born on Sept. 20, 2010. Newborn screening tests detected the disorder before he was a week old, allowing the metabolics team to start life-saving treatment before Henry’s liver went into failure.

Henry’s now a happy, normally developing child — thanks to what Nicole calls the “incredible” work of Dr. Raymond Wang, a CHOC metabolic disorders specialist, and other members on the metabolics team.

Learn more about metabolic disorders services at CHOC.

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Physician Tenacity, Experimental Treatment Help Baby With Rare Disease

A toddler with a devastating rare condition has a chance for health, thanks to an experimental treatment and the tenacity of a CHOC Children’s physician.

Galya Chan, 2, is showing marked improvement after nearly nine months of regular infusions of cyclodextrin, a compound that has helped mice with Niemann Pick C disease, the condition also affecting Galya.

Dr. Raymond Wang, a CHOC metabolic disorders specialist, says Niemann Pick C affects one in every 150,000 people and causes cholesterol to accumulate in the brain, lungs, liver and spleen, leading to deterioration and early death.

Even worse, there is no Food and Drug Administration-approved treatment for the condition.

A sick preemie

After a premature birth, Galya developed an extremely enlarged liver and severe jaundice. A battery of tests led to a full exome sequence, which revealed Niemann Pick C – and no available treatment plan.

“The diagnosis is horrible, but it’s better to know than to not know,” says Brian Chan, Galya’s father.

But Dr. Wang was aware of researchers studying the effects of cyclodextrin in animals with Niemann Pick C. The compound had shown to reduce cholesterol levels in their bodies, help animals survive without symptoms longer and have more overall longevity.

“The problem is there’s no company that’s willing to get behind the treatment for humans,” Dr. Wang said. “There aren’t enough patients with this condition for companies to see the potential and profit for this. It comes down to individual physicians who want to make a difference.”

Taking another route

So, with Galya’s parents in agreement, Dr. Wang began the long process to seek special permission to treat the baby with cyclodextrin.

Writing a treatment protocol especially tailored for Galya, Dr. Wang filed an investigational new drug application with the FDA. CHOC’s Institutional Review Board, a body that examines proposed research, also reviewed the proposed use.

Four months later, Galya became the youngest of just 11 patients nationwide to undergo this treatment.

Currently, Galya undergoes weekly intravenous cyclodextrin infusions. She also receives monthly intrathecal infusions, which are administered through a lumbar puncture to reach her central nervous system.

Each time, Galya is admitted to CHOC’s pediatric intensive care unit. Infusions last six hours, and she stays 15 more hours for observation.

Encouraging outcomes

But the time and effort is paying off: markers of Galya’s cholesterol storage levels have dramatically decreased since she began treatment nearly nine months ago, data shows.

Before receiving the cyclodextrin, those markers were tremendously elevated, more than six times the normal level. Today, her storage levels have dropped more than 80 percent and now hover just above normal, with progress expected to continue. Also, Galya’s liver softened and its volume decreased by about 10 mL.

Galya’s results are so good that Dr. Wang is working to adjust her treatment protocol to receive intrathecal infusions twice monthly.

Moving forward, Dr. Wang and his colleagues will continue to study Galya to determine if the treatments are also healing her lungs, and it’s likely the cyclodextrin treatment will continue indefinitely – or until a different treatment is developed.

“Once we found out the diagnosis, it was sad,” says Brian, Galya’s father. “But now we can put our energy into helping Galya and working to find a cure.”

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Resources, Tools for Parents of Children with Rare Diseases

Resources_Rare_DiseasesParents often struggle with navigating how to raise a child with rare or genetic diseases. CHOC Children’s provides multiple channels of support including family-centered care, which empowers parents to become as educated as possible on their child’s condition.

To help on that front, the Global Genes Project – an Alieso Viejo-based organization whose mission is to support, advocate and educate patients and parents of those with rare and genetic illnesses – recently published a series of unique “toolkits” that lay out some previously unwritten rules for patients and caregivers.

The kits cover a variety of topics that can help parents of children with rare diseases:

Parenting a Child with a Life-Limiting Illness: This toolkit gives advice in multiple formats like video, parent-to-parent stories and resources for challenges like caring for the sibling of a sick child, maintaining a marriage through the course of a child’s illness, involving extended family and friends, and understanding medical equipment.

Bringing Rare Disease to Capitol Hill, Advocating for Your Cause: With so many regulations in constant motion, it’s important for parents to do their part in advocating for rare disease support and studies. This toolkit outlines how congress works to produce bills and laws and change regulations in the United States.

Starting a Non-Profit, The First Steps: Some parents may even go as far as wanting to start their own non-profit organization to help make waves for a particular illness. This kit gives readers the main idea of what a non-profit is, what it can accomplish and how it’s formed.

These kits, and others, can be found online at www.globalgenes.org/toolkits.

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