CHOC Physicians, complete the Physician Engagement Survey, receive a messenger bag

The CHOC Children’s 2020 Physician Engagement Survey will be held Feb. 10-28, 2020. CHOC physicians, don’t miss this valuable opportunity to provide your candid feedback, which will allow CHOC to further improve our programs and services to better meet your and your patients’ needs. 

As a token of gratitude, all participants who complete the survey will receive a CHOC messenger bag and will be entered in a raffle for the chance to win a gift card to: The Resort at Pelican Hill, The Ritz-Carlton, Mastro’s Restaurants or Water Grill South Coast Plaza Restaurant. Winners will be drawn each week. Complete the survey early to increase your chances of winning.

Please look for an email on Feb. 10 with your personal link to the survey from Press Ganey, who is conducting the survey on behalf of CHOC. The survey is available on your desktop or smart phone.

If you have any questions, please contact CHOC Business Development: Leslie Castelo at (714) 509-4329, lcastelo@choc.org, or Catalina Lawrenz at (714) 509-4363 or clawrenz@choc.org.

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 Children’s 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 Children’s 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 Children’s 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 Children’s 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.

Holidays in the CHOC Children’s Cherese Mari Laulhere Mental Health Inpatient Center

By Liz Hawkins, Volunteer in the CHOC Children’s Cherese Mari Laulhere Mental Health Inpatient Center

Patients in CHOC Children’s Cherese Mari Laulhere Mental Health Inpatient Center (MHIC) were treated to several surprises this holiday season.

Made possible by the MHIC Dream Team and volunteers, patients kicked off the holidays with a Thanksgiving lunch and celebration.

Thanksgiving lunch hosted by the MHIC Dream Team

Several Child Life Specialists braved the chilly autumn rain to set up a tent for Thanksgiving lunch. Patients received personalized invitations including up to 3 friends or family members to the special outdoor festivities. Tables were set with formal place settings, fall décor and activities such as decks of cards, coloring sheets, games and modeling clay to help keep the fun and conversation flowing. Other activities for patients and families included a photo booth, a picture frame decorating area and seasonal crafts.

Patients, guests and staff were served turkey and trimmings by members of CHOC’s Mental Health Advocacy Committee while music selected for the occasion by our MHIC Music Therapist played softly in the background. It was chilly and wet outside, but under the tent was warmth in the air that only a holiday can bring. Those patients that did not have family and friends able to join them at lunch were surrounded by staff that ate and played games alongside them to make their day special. That kind of compassion is extraordinary in mental healthcare, but it’s typical here at CHOC.

Warm winter surprises

After watching The Polar Express with MHIC staff, patients left cookies and milk out for Santa and went to bed early the night before Christmas. They awoke to a magical scene: holiday music played, a yule log crackled on the Seacrest Studio TV channel and presents hand-picked by Child Life Specialists awaited each patient.

Just like any child on Christmas morning, MHIC patients experienced the thrill and excitement of opening gifts chosen just for them, thanks to hard work from our Child Life team, MHIC staff, community donations and a little holiday magic.

Holiday celebrations like these bring cheer and smiles to patients and families, help to normalize the hospital experience, reduce stigma and set CHOC’s MHIC apart from other inpatient mental health centers. The MHIC Dream Team strives to make every day special for patients and families, but these holidays proved to be especially incredible.

It was the perfect way to kick off a new year in the MHIC, our second year in service to the community, where we celebrate the little things every day. We look forward to celebrating holidays in a big way in the MHIC in 2020.

Learn more about the Cherese Mari Laulhere Mental Health Inpatient Center at CHOC.

CHOC receives $8 million to advance research for rare disorder

An $8 million gift from the Foundation of Caring will help CHOC Children’s 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.

“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 Children’s.

CHOC Resident Follows in His Father’s Footsteps

Growing up, Tim Hicks fondly remembers seeing his dad come home from work with a smile. Despite his demanding job as physician, his dad, David, always remained positive and shared countless rewarding stories that he witnessed at the hospital.

It was that unwavering dedication that inspired Tim, now a chief resident at CHOC Children’s and UC Irvine, to pursue a career in medicine.

“Seeing how happy my dad has been, I wanted to be part of that,” he says.

As long as he can remember, Tim was interested in medicine. He was a curious child and enjoyed science and learning about the human body.

Similarly, his dad, Dr. David Hicks, a pulmonologist and neonatologist at CHOC for more than 40 years, had always been interested in medicine as well. David wanted to become a veterinarian initially, like his own father, but eventually went to medical school.

During his long and successful tenure at CHOC, David has enjoyed seeing the hospital’s growth and working alongside a compassionate and dedicated team.

“What’s most inspiring at CHOC is the desire of our nurses and doctors to treat their patients as if they were their own children. That, and when I see the smiles on parents’ faces when their kids get better, is what inspires me to continue to do this,” says the 74-year-old physician.

It’s that same drive that motivates Tim to follow in his dad’s footsteps.

Tim Hicks and David Hicks
Dr. Hicks with his son Tim at his white coat ceremony, where residents receive their white coats for the first time.

“I really enjoy treating and hanging out with kids. They manage to smile even in a very difficult time. Their light-heartedness and innocent outlook are refreshing in many ways,” Tim says.

Tim’s relationship with CHOC goes back even further, however. His dad recalls the time when Tim, a teen then, was admitted to CHOC to be treated for a splenic fracture.

“Little did we know then that he would be back as a pediatric resident one day,” David says. “It was a few scary days in the PICU. Moments like that teach you that life is precious and that things can change very quickly.”

Tim completed his pediatric residency in July 2019 and became a board-certified pediatrician. His goal now is to go into pediatric pulmonary medicine, like his father.

“Pulmonary was one of my last rotations in residency, and I fell in love with it,” Tim says. “I guess I’m following my father’s footsteps even more closely now!”

Reflecting on his years as a resident, he knew becoming chief resident was the natural next step in his journey.

“I wanted to be a chief resident because I love the CHOC residency program. It’s an extra year where I take on more of an administrator role, a position that allows me to help make important improvements to our already wonderful program.”

Along with meetings, scheduling, seminars and other responsibilities that come along with the role, Tim appreciates the chance to become a teacher.

“The Chief Resident position is unique; as a liaison between the residents and administrators, I try to be the residents’ voice and empower them while getting insight into the workings of a large program of 90 residents working at three hospitals. Because of this, I will become a better teacher, communicator and leader.”

Both Tim and David point to CHOC as an ideal place for budding doctors to learn. Between a diverse patient population and a wide variety of cases, residents can expect to be challenged.

“Training at CHOC gives us a wealth of knowledge,” Tim says. “It’s a great foundation for any pediatric career that residents decide to pursue, whether it is general pediatrics or subspecialty medicine. The attendings at CHOC are wonderful, approachable and eager to teach. They really help foster a CHOC family atmosphere that feels very special to be a part of.”

Seeing his father work at CHOC for more than four decades has given Tim a unique perspective about what it means to be part of the CHOC family.

“As his son and as a former CHOC patient, I have learned how special the patient-physician relationship is. To be a physician and serve in the community I grew up in is something few people are lucky enough to experience.”

For Tim, that means occasionally encountering familiar faces.

“Some of the most special moments in residency have been when I have helped take care of my father’s patients,” Tim says.

It reinforces the impact of his dad’s work when those former patients – now parents of their own children – remember Dr. David Hicks fondly.

“My dad has given me great advice and taught me to treat each patient as a person – that it’s important to take care of their unique, individual needs with care and compassion.”

Tim – or “Hicks 2.0,” as he jokingly refers to himself – couldn’t be prouder to follow his dad’s path.

“My dad is an incredible role model and friend. I’m not only thankful for his guidance in life but also in medicine,” he says.

Read more about CHOC’s residency and training programs.