Conference to Connect Medically Complex Teens, Parents with Peers

An upcoming CHOC Children’s conference will help teens with medically complex connective tissue disorders and their parents learn more about their diagnoses – and connect with others who have similar conditions.

The Dec. 3 and 4 “Connecting the Dots … Diagnosing and Treating Children and Adolescents with Medical Complexity” is geared for parents and their teens with a handful of conditions: Ehlers-Danlos syndrome; pain syndromes; postural orthostatic tachycardia syndrome (POTs); dysautonomia; and mast cell activation disorder.

“One of the goals of this conference is for parents and patients to have a better understanding of their condition, how the diagnosis is made, the symptoms as well as what treatments are available. It also gives patients and families a chance to meet others going through the same experiences and having the same or similar diagnoses” says Dr. Neda Zadeh, a CHOC geneticist who will participate in the conference.

medically complex

Because these conditions are rare and can often take a long time to diagnose, many patients experience feelings of isolation, she says.

“My experience has been that when you tell someone that they’re not alone, that there is a diagnosis, and that there are many other people with this same condition, you can see their body language change immediately usually to a form of relief,” Dr. Zadeh says.

“For many, it is incredibly cathartic for them to hear that there’s a name for this condition, and that it is a real diagnosis and a reason for all of the symptoms they have been experiencing for so many years without knowing or understanding why,” she adds.

Over the two-day conference, parents and teens will hear from a variety of specialists who treat aspects of these conditions, including cardiologists, allergists, pain specialists and anesthesiologists.

On Saturday afternoon, attendees will be broken into two tracks: one for parents and another for teens. During the teens’ break-out sessions, attendees will have an opportunity to anonymously ask specialists questions. The day will conclude with a pizza party, where parents and teens can meet peers who have similar diagnoses and experiences.

Sunday’s session will feature a panel of CHOC experts – including Dr. Zadeh, gastroenterologist Dr. Ashish Chogle, cardiologist Dr. Michael Recto and anesthesiologist and pain specialist Dr. Paul Yost – as well as breakout sessions covering advocacy issues and support systems for raising chronically ill children.

Parents and teens can register for the conference on CHOC’s website.

The conference has a Dec. 3 component solely for the education of medical providers. Parents who think their child’s physician might be interested can also find more information on CHOC’s website.

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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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All Patients are Family for CHOC’s Mother, Daughter Physicians

Dr. Neda Zadeh has a special nickname for her mentor at CHOC Children’s: Mom.

She and her mother, Dr. Touran Zadeh, are among CHOC’s medical geneticists, working together to treat children with developmental disabilities, congenital abnormalities, birth defects and genetic disorders.

“She has been my hero for so long,” the younger Zadeh says. “I probably don’t tell her enough. I have so much admiration for her.”

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Drs. Touran Zadeh and Neda Zadeh

 

A long CHOC connection

The mother-daughter duo has worked alongside each other since 2010, when the younger Zadeh joined the CHOC genetics team full-time after completing her clinical genetics and molecular genetics fellowships at Stanford University and UCLA.

And in a way, she was coming home: As a young girl, Zadeh, who declared her dream of becoming a doctor when just in preschool, frequently accompanied her mother when she’d be called into work at CHOC on evenings and weekends.

“I always knew that I’d go and do genetics training and come back and join her practice,” the younger Zadeh says. “I grew up at CHOC. I can’t imagine working anywhere else.”

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Mother and daughter, circa 1980

Early work challenges dissolve

Though both women acknowledge that learning to work together was challenging at first, the pair today easily functions as professionals first, and mother and daughter second.

But that doesn’t stop the younger Zadeh from marveling at her mother’s expertise, and bragging that mom can often make a correct diagnosis just by looking at a patient.

And the elder Zadeh, who has been at CHOC for about 30 years, says she also learns much from her daughter, especially when it comes to technology.

“I learned a lot of new stuff from Neda because her generation is more Internet- and computer- savvy,” she says. “Also, a lot of time I consult with her, just like anybody else in our profession would.”

A common care philosophy

The two also share a patient care philosophy: “My mother told me to always treat patients as though they were your family,” the younger Zadeh recalls. “That has really stuck with me. Every time I see a patient, I think of that. I think that’s the only way it can be.”

Though families are sometimes confused by seeing physicians with a resemblance and the same name, both women believe patients benefit from being under the care of a mother-daughter duo.

“When she’s with a patient who she thinks may have something that I’ve seen before, she gets me involved,” says the elder Zadeh. “In that respect, it’s good for patients.”

The next generation

Though they work side by side, the women try to see each other socially at least once a week – especially since the younger Zadeh’s first son was born almost two years ago.

The toddler has not yet declared an interest in becoming a physician, but the younger Zadeh admits she’d be thrilled if that desire ever materialized.

“Any parent would have to be happy if their child told them they wanted to follow in their footsteps,” she says.

It’s true: Just ask her mother.

“I am so proud,” the elder Zadeh says. “When Neda got the call that she got into medical school, she was really very happy. That was her longtime goal, and it was a dream come true.”

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