Derek’s Story: A Landmark Procedure

Derek Young looked like any other baby when he was born in February 1994. But 3-1/2 months later, his mother Pamela noticed his head was slowly getting larger. Doctors diagnosed hydrocephalus, or fluid on the brain, and placed a shunt to drain the fluid. Fast forward 10 years when Derek needed a shunt revision. He was treated at the CHOC Children’s Neuroscience Institute and released.

CHOC Children's Neuroscience Institute

However, six months later, Derek returned to CHOC with what appeared to be a failure of the original shunt. Neurosurgeon Dr. Michael Muhonen decided to perform a pioneering procedure called a third ventriculostomy in which he made a tiny hole in the wall of the third ventricle of the brain — allowing movement of fluid out of the blocked ventricle.

As a result of this extraordinary surgery, Derek no longer required a shunt nor did he or his mother need to live in constant fear of shunt failure. An avid swimmer, this procedure allowed him to continue to pursue his passion, including completing a Catalina-to-Long-Beach swim to raise money for CHOC.

Derek is now a 6’2” 20-year-old junior at Northern Arizona University studying to be an emergency room or intensive care unit nurse, a career directly inspired from his experience with CHOC. From the compassionate, skilled nurses who made him laugh to the expert, encouraging doctors who described the procedure in terms he could understand, Derek’s experience with CHOC was life-changing.

Learn more about CHOC Children’s Neuroscience Institute.

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Genetic Syndrome Causes Cleft Lip, Palate in Sisters

CHOC Children’s Cleft and Craniofacial Program Just like most sisters, Tristyn and Raigyn Snyder will share toys, clothes and friends throughout their lives. They also share something unique: a genetic condition called Van der Woude syndrome.

In the Genes

When Cindy Snyder was 12 weeks pregnant with Tristyn, a prenatal ultrasound showed that the baby had a bilateral cleft lip and palate. After Tristyn was born, specialists at the CHOC Children’s Cleft and Craniofacial Program noticed she also had small indentations on her bottom lip, or “lip pits,” a key marker of Van der Woude syndrome (VWS).

Van der Woude syndrome is the most common single-cause of cleft lip and palate. Individuals with VWS may have a cleft lip with or without a cleft palate, a submucous cleft palate, lip pits along the lower lip, or any combination of these features. Tristyn’s dad, Matt, also has Van der Woude syndrome and had a unilateral cleft lip as a child.

“If a child’s mother or father has Van der Woude syndrome, each child would have a 50 percent chance of also having the condition,” according to Dr. Neda Zadeh, a CHOC Children’s genetic specialist. “VWS can present differently in each person. For instance, a mom may have had lip pits, but her child could have a cleft palate and no evidence of lip pits.”

Shortly after Tristyn’s birth in 2011, she had a nasoalveolar molding (NAM) device fitted inside her mouth to partially close her cleft. Plastic surgeon Dr. Michael Sundine performed surgery at CHOC to repair Tristyn’s lip when she was seven months old, and he did a second surgery when she was 10 months old to finish her palate repair and remove the lip pits.

Now 3 years old, Tristyn barely shows any physical evidence of her condition. Other than a need for speech therapy, “No one even knows anything happened to her,” Cindy says.

Baby Raigyn after her surgery.
Baby Raigyn after her surgery.

The Decision to Expand Their Family

“We wanted to have another child, regardless,” Cindy says. “Some people are like, how could you have another one? Tristyn is so happy and healthy. How could we not have another one?”

In 2014, Cindy and Matt were thrilled to learn they were expecting another girl, Raigyn. An ultrasound showed that Raigyn’s lip was not forming properly, a sign that she likely had Van der Woude syndrome. A genetic test could have confirmed it, but the Snyders opted out.

“We didn’t really need to know either way, and we felt like the cleft was enough to know,” Cindy says.

The Snyders were prepared when Raigyn was born with a bilateral cleft lip and palate. She wore a NAM device and recently had surgery to repair her lip. In a few months, she’ll have another procedure to repair her palate. Cindy is confident that Raigyn will continue to develop normally, just like her big sister.

“They are perfectly healthy children,” Cindy says. “Everyone’s born with different things, and this is just what they were born with.”

Learn more about cleft and craniofacial services at CHOC.
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Matthew’s Story: Healing in the Surgical NICU

Grace Wu beams as she watches her son Matthew smiling and happy after enjoying his bottle.

“It’s good to sbabies surgeryee him so happy and active,” she says. “That he could do that makes me very, very happy.”

It’s a marked change from the days following Matthew’s birth almost four months ago.

As a newborn, he was diagnosed with volvulus, a condition wherein the intestine is twisted and can ultimately cut off blood circulation. Symptoms of volvulus include a distended stomach and intolerance to feeding, which Matthew exhibited.

The baby was quickly transferred to CHOC Children’s for emergency surgery at just three days old. CHOC surgeon Dr. Saeed-Ur-Rehman Awan repaired the malformation by performing an ileostomy, wherein the intestine is brought outside the body.

Next, Matthew needed time to heal his organs. He spent the next three months recovering in CHOC’s Surgical Neonatal Intensive Care Unit, a special part of the hospital’s main NICU dedicated to the care of babies who need surgery.

There, Matthew was under the care of a multidisciplinary team that included Dr. Irfan Ahmad, a CHOC neonatologist and co-director of the surgical NICU, and many other clinicians.

In the unit, the team cares for patients jointly, discussing the cases of children like Matthew as a group and forming a treatment plan that often calls for the expertise of other specialties at CHOC.

Another key component of the surgical NICU care team is parents and families. In Matthew’s case, his parents and grandfather, Jerry, partnered with clinicians on every stage of the baby’s care.

“Jerry was there every single day holding Matthew – even when he was crying,” Dr. Ahmad says. “He was a great member of the team, and he provided a lot of support.”

As Matthew began eating orally in small volumes as well as through intravenous methods, he geared up for a second surgery that would reattach his intestines. That procedure was performed just three months after the first.

After several more weeks of recovery, Matthew was able to eat fully from a bottle and was on his way home, much to the relief of his family.

“I was very worried because for the first time, I thought I might lose him,” Grace says. “I am very thankful for the care he’s received.”

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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 CHOC metabolicswhy Henry Louderback celebrated his fourth birthday last year.

Henry 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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CHOC Patient is Succesfully Treated for Feeding Problem

CHOC Children's Multidisciplinary Feeding ProgramBefore coming to CHOC Children’s, Pacer Lybbert had never eaten a Cheerio, a piece of toast or even a spoonful of yogurt. He was almost 4 and had never enjoyed birthday cake, Halloween candy or a Thanksgiving dinner with his family. Since birth, Pacer had received almost all of his nutrition through a feeding tube.

Quinn and Mekell Lybbert may never know why their son, now 7, was born unable to swallow. Everything was fine at first, but within a couple of weeks it was clear their baby was struggling to eat. Finally, there was no choice but to put a feeding tube through their infant’s nose. It was supposed to be a short-term fix, but as Pacer grew older, and efforts to help him failed, he had to have a gastric tube inserted directly into his stomach.

Quinn and Mekell had resigned themselves to the possibility that Pacer would need a feeding tube for life. Then, they met a little boy near their new home in Montana who had been successfully treated for a similar problem at the CHOC Children’s Multidisciplinary Feeding Program. Mekell immediately called CHOC.

Five weeks after coming to CHOC, Pacer’s feeding tube was removed. He left for home eating equal parts solid food and a liquid nutritional supplement. Six months later, Pacer was eating regular food with his family — and asking for seconds.

“The interdisciplinary approach is what made this program so different and why it was so successful,” Mekell said. “We had so many people working together as a team trying to figure this out. Had we not gone to CHOC, Pacer would still have a feeding tube.”

See Pacer’s brave journey in this video.

Learn more about CHOC Children’s Multidisciplinary Feeding Program.

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Kara’s Story: A Journey with Epilepsy

Heidi Sexton knew her young epileptic daughter, Kara, needed more help. Anti-seizure medications didn’t help, hospital visits were frequent, and seizures and tantrums continued.

“It was time,” Heidi recalled. “I went in to the next doctor’s appointment with my questions: What else can we try? This isn’t working.”

Dr. Mary Zupanc, director of CHOC Children’s comprehensive epilepsy program, offered her recommendation: Kara needs brain surgery.

A little girl’s long road

Though no doubt a staggering consideration, brain surgery would be the next landmark on a long medical history that belied Kara’s short three years of life.

At just 13 months old, she underwent emergency brain surgery after her frontal lobe hemorrhaged, caused by a previously undiscovered vascular malformation. The hemorrhage in Kara’s brain led to right-side hemiplegia, leaving her no use of her right hand and limited the use her right leg.

Kara underwent physical therapy and began walking at age 2. Life was relatively normal for the Sexton family until just after Kara’s third birthday, when she began acting strangely.

Kara’s body would stiffen, she’d fall down and stare off into space, Heidi recalled. It wasn’t until a visit to the Julia and George Argyros Emergency Department at CHOC Children’s Hospital that the Sextons would learn Kara was having seizures.

At the CHOC Children’s Neuroscience Institute, Kara underwent an electroencephalogram, or EEG, a test that monitors for electrical activity in the brain. Next, she spent six days undergoing long-term video EEG monitoring. From there, Dr. Zupanc, also CHOC’s neurology division chair, made an official diagnosis of epilepsy and prescribed an anti-epileptic medication.

Exploring other options

Nonetheless, Kara’s seizures continued. Kara’s three older siblings were acutely aware of their sister’s disorder, daily counting Kara’s seizures and agonizing over each hospital visit. The family began to placate Kara in hopes of staving off outbursts and tantrums, Heidi said.

“Kara had between two and four seizures a day,” she said. “It really messed with her behaviorally. She’s a lovely kid, but she suffered serious temper tantrums. It was physically and emotionally exhausting.”

A second six-day monitoring session led Dr. Zupanc to change Kara’s medication and, as a precaution, begin evaluating her as a candidate for epilepsy brain surgery.

Further tests and scans revealed that the left hemisphere of Kara’s brain was significantly injured and atrophied – likely related to her earlier hemorrhage. In addition, Kara’s new anti-epileptic medication wasn’t working.

Dr. Zupanc concluded that the next step was a hemispherectomy, a surgical procedure in which one side of the brain is removed or disconnected.

Kara

“On scans, Kara’s hemisphere was completely white,” Heidi said. “The only thing her left hemisphere was doing was causing seizures. There was no question.”

A change of course

Nearly 11 months after the seizures first surfaced, Kara underwent surgery at CHOC to remove a portion of her brain’s left side, and disconnect the remaining portion from the right hemisphere. Performed by neurosurgeon Dr. Joffre Olaya, the procedure lasted six hours.

After 16 days recovering in the hospital’s pediatric intensive care unit, Kara went home just after her fourth birthday.

Much to her parents’ and siblings’ relief, Kara hasn’t had a seizure since her surgery eight months ago. Kara still relies on an anti-epileptic medication, but she may be able to stop taking it completely or use a lower dose of medication soon if her progress continues.

Though considering a second brain surgery was daunting for the Sextons, Heidi and her husband knew the procedure was the right choice to help their daughter.

“I looked at it in a sense of quality of life for Kara,” Heidi said. “Hopefully now she’ll be able to drive one day. Continued seizures would have impaired her cognitively forever, and I didn’t want that.”

Though she still requires extensive care, Kara is doing well physically and emotionally and is looking forward to preschool.

Kara isn’t fully aware of her journey in the last year, but she understands the meaning of the scar on her head just above her ear.

“She knows now that she doesn’t have seizures and Dr. Olaya and Dr. Zupanc fixed her,” Heidi said.

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CHOC’s Small Baby Unit Helps Twins’ Succesful Outcome

On March 17, 2010, CHOC Children’s opened its Small Baby Unit within the neonatal intensive care unit, to care for the unique needs of the smallest and sickest babies. Since then, the unit has delivered specialized, high-quality care to close to 300 neonates. In honor of the unit’s fifth anniversary, read about one of the many remarkable patient stories from this special place.

For twins Damian and Victoria Daboub, timing is everything. They made their debut too early — at 27 weeks. Damian was 2 pounds, 14 inches, and Victoria was 2 pounds, 13 inches. Yet their timing was perfect because they arrived just as CHOC Children’s opened its 12-bed Small Baby Unit in March 2010.

Designed expressly for low birth weight babies born at less than 28 weeks or weighing less than 1,000 grams, the Small Baby Unit has its own dedicated team of specialists and is the only one of its kind in Southern California. Further, the unit is designed to aid in the babies’ development with dim lighting and low noise levels.

Damian stayed in the Small Baby Unit for 85 days, and Victoria was there for 105 days. Mom Miriam credits the Small Baby Unit for the twins’ survival. Today, they are “off the charts” in terms of height and weight, and are gregarious, joyful preschoolers. While their language is a bit delayed, it doesn’t stop them from enjoying all of their activities. Miriam truly believes her children’s successful outcome is the direct result of this “little wing where they can focus on growing.”

Learn more about the CHOC Small Baby Unit.

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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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Former CHOC Patient is Cancer Free Thanks to Da Vinci Robotic Surgical System

Julia Shenkman is a healthy and accomplished 17-year-old. She has a second-degree black belt in Taekwondo, is a member of her high school’s science team, and is fourth in her senior class in academics. Julia has another distinction: She’s a former CHOC Children’s patient who underwent a surgical procedure that involved the use of the then-landmark Da Vinci robotic surgical system.

In late 2003, CHOC became the first pediatric hospital in California to begin offering robotic surgery for children. The Da Vinci robot was an improvement over minimally invasive laparoscopic surgery because it gave surgeons a better view inside the surgery site and allowed them to more precisely manipulate instruments, which translated to less pain, fewer complications and shorter recovery time for patients.

In January 2006, Julia, then 8, was whisked to the emergency department at St. Joseph Hospital for severe abdominal pain and frequent vomiting. Blood work and X-rays for appendicitis turned up negative. It wasn’t until Julia’s doctor at CHOC, Mustafa Kabeer, pediatric surgeon, ordered an ultrasound that the cause of her distress was found: a large mass in her right ovary. Using the Da Vinci system, Dr. Kabeer operated on Julia and successfully removed the tumor, which was malignant. After three months of chemotherapy, Julia recovered and remains cancer free.

Julia with Dr. Mustafa Kabeer, CHOC Children's pediatric surgeon.
Julia with Dr. Mustafa Kabeer, CHOC Children’s pediatric surgeon.

Pediatric surgeons at CHOC have performed about 100 robot-assisted surgeries, says Dr. Kabeer, who before coming to CHOC helped implement the world’s first pediatric surgery robotics program at Children’s Hospital of Michigan in 2001. Recently, Dr. Kabeer started using the Da Vinci system to perform complex operations through one incision in the belly button, such as for removal of the gallbladder. The Da Vinci system at CHOC was made possible by a $1.5 million sponsorship from Costco Wholesale Corp.

“This type of technology helps us perform a wide variety of surgeries — some of them very complex,” Dr. Kabeer says. “It takes time, commitment and vision to start and maintain such a program, but this is one of the unique things about CHOC: We want to do this, and we are committed to doing it.

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February is American Heart Month — Cyrus’ story

Just in time for American Heart Month, learn about our courageous patient, Cyrus, who underwent complex open heart surgery. His successful journey was met by much celebration from his family and his team of CHOC experts.

Hypoplastic Left Heart Syndrome (HLHS) is a rare congenital heart defect, which is 100 percent fatal if left untreated. Sunny and Jereme Brixey knew about their baby’s risks even before Cyrus was born in 2008, having been prenatally diagnosed.

Prior to Cyrus’ birth, the cardiac team at CHOC Children’s already had a plan of action: an approach involving three different open heart surgeries. Three days after he was born, Cyrus underwent complex open heart surgery. He had a second heart surgery at 4 months and a third at 4 years.

After the third procedure in 2013, Cyrus took a long time to recover in the hospital. After being in the hospital for nearly two months due to persistent drainage from a chest tube, Cardiovascular Intensive Care Unit (CVICU) physician Dr. Michele Domico suggested that Cyrus could be discharged home with a portable chest drain. He would be the first patient in the hospital’s history to be sent home with this device. The cardiologists and surgeons agreed and ordered the new portable chest drain for Cyrus, allowing him to go home.

Cyrus, with Dr. Michele Domico, medical director of CHOC Children's CVICU and Choco, at a CHOC Night at Angels Stadium event.
Cyrus, with Dr. Michele Domico, medical director of CHOC Children’s CVICU and Choco, at a CHOC Night at Angels Stadium event.

At home, Cyrus’ parents took care of him and his chest drain so that he could heal, and the drain was able to be removed after a few weeks. This successful procedure was met by a large cheer from Cyrus’ entire CHOC team. For Sunny and Jereme, this expression of joy reflected the care Cyrus received every step of his journey. In addition to the clinical excellence of the medical team, the Brixeys believe the team’s positive, encouraging words, as well as the support extended to the entire family, were a huge factor in his recovery. Since then, the CVICU team has used the portable chest drain in several other patients with great success.

Learn more about the CHOC Children’s Heart Institute.


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