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.
Related posts:

 

Matthew’s Story: Healing in the Surgical NICU

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

“It’s good to see 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.”

More articles about CHOC’s Surgical NICU:

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.

Related posts:

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.

Related posts:

  • 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 ...
  • Quinn goes home, thanks to CHOC’s cardiac high-risk interstage program
    Like most parents, when Erin and Ryan were pregnant with their first child, it was an exciting and precious time. However, for them, they knew this would be a high-risk process since Erin has Type 1 diabetes. Erin was seen regularly ...
  • How a car accident changed my life
    My journey with CHOC started on Dec. 18, 2016, when my dad and I were hit by a car. The weeks following the accident were terrifying, and my 18-month rehabilitation ...

 

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.

Read other stories about CHOC patients:

  • CHOC Patient Inspired to Become CHOC Doc
    At 6 years old, Vanessa Avina was more interested in viewing the monitor for her echocardiography (heart ultrasound) than watching a cartoon during her doctor’s visits. Her CHOC pediatric cardiologist ...
  • CHOC Walk in the Park: Justin’s Helpers
    As it celebrates its 25th anniversary, CHOC “Walk in the Park” has raised more than $24 million to fund education, research and adoption and utilization of the latest technologies to ...
  • A Bright Future: Ian and Micah’s Story
    Even though I’ve been hanging around CHOC Children’s for a long time now, I am continually surprised by the courage, tenacity and strength of the patients I meet. It’s especially ...