The absence of a gene protein makes 5-year-old Hayden Cheng a medical rarity. Her mom shares their journey with SynGAP1.

Five years ago, Hayden Cheng entered the world following a normal pregnancy and birth. Then her mom, Minnie Zhou, noticed her child wasn’t sleeping as a newborn should.

“You know how people say, ‘Sleep when the baby sleeps’? My baby wasn’t sleeping, and I’m exhausted,” said Zhou, a certified registered nurse anesthetist at University of Illinois College of Medicine. “It wasn’t like she was fussy; she was happy. It was a constant struggle until she was about 7 months old. Then we noticed that she wasn’t flipping over. She wasn’t hitting her developmental milestones. It felt like something was not right.”

A visit to the pediatrician had Zhou, a resident of the North Park neighborhood, requesting physical therapy for her only child. Despite one-hour sessions, progress wasn’t being made. Hayden’s pediatrician suggested a visit to a neurologist when she was 9 months old. Genetic testing found that she had a mutation of her SynGAP1 gene — a gene that produces a protein that helps regulate the brain’s synapses, or pathways where neurons communicate with each other. Hayden’s genes don’t make enough of the protein.

According to Dr. Chalongchai Phitsanuwong, Hayden’s neurologist and University of Chicago Comer Children’s Hospital’s Child Neurology Residency Training Program director, SynGAP1, aka synaptic RAS GTPase activating protein, is a gene that, when mutated, loses its function, and can cause a variety of symptoms like low muscle tone, sleep and behavior disorders, and motor skill and speech delays. The disorder is rare, said Phitsanuwong, and connected to intellectual disability, autism spectrum disorder and epilepsy.

According to the SynGAP Research Fund, there are 1,215 people with the disorder in the world. Phitsanuwong has a few clients with the condition, including Hayden. He said that because of his interest is in epilepsy genetics, he may have seen more of these cases than the average child neurologist.

Hayden was diagnosed at 19 months. Seizures developed around the age of 2. On good days, Hayden has fewer than 10 seizures (evident by a fluttering of her eyelids), Zhou said. And while Hayden can say mama and papa, and recognize and enunciate letters of the alphabet, Zhou said it’s still difficult for her child to say words with more than one syllable consistently.

Hayden also uses an iPad and sign language to communicate. Her favorite button on the device is one with her picture on it. Press it and it says, “Hi, my name is Hayden!” Hayden also struggles with eating and drinking because she has a sensory processing issue.

“With food, even if it tastes good to us, it doesn’t necessarily taste the same way to her,” Zhou said. “She has a lot of issues with hydrating. Every day getting enough liquid in her has always been a struggle.” Hayden’s parents have to be extra careful when feeding her so she doesn’t aspirate and accidentally get liquid or food in her lungs.

Phitsanuwong said the severity of patients’ SynGAP1 symptoms dictates who will require assistance and how much. For instance, Hayden sees several therapists weekly for speech and occupational therapy, and sees Alex Meeske for physical therapy. Zhou said Hayden will soon start a combination of feeding and swallowing therapy.

“Seventy percent of patients with SynGAP1 encephalopathy have eating difficulty and have what we call hypotonia, or low muscle tone,” Phitsanuwong said. “When you have low muscle tone and problems to coordinate your swallowing function, it’s going to be hard for you to eat and swallow without aspiration. That’s why many patients with this condition might end up with a feeding tube to avoid the problem with aspiration or choking on their food.”

Hayden is on anti-seizure medication that has helped with her sleep and Zhou said it has also helped Hayden with cognition and development. Phitsanuwong said that although seizures might negativelyaffect development, getting the seizures controlled by medication can sometimes help with development.

“The medication itself is to control the seizure, not really to improve the development,” he said. “But the development might be improving because the seizure is better controlled from the medication.”

Zhou said Hayden’s development has increased exponentially since starting the anti-seizure meds. Hayden started walking a few weeks after she took the medication, and as for her sleep, gone are the days where she would wake up at 3 a.m. and not go back to sleep until 6 a.m.

“We were just struggling as a family,” Zhou said. “But ever since then, she’s been sleeping well and even if she wakes up, she stays in her bed and she can put herself back to sleep.”

Meeske, a physical therapist at Chicago Pediatric Therapy & Wellness Center, has been working with Hayden since she was 10 months old. With the help of a walker, Hayden began walking at about 2 years old. Since then, Meeske said, the girl, who loves to swim, has been pushing toward developmental milestones. She wears orthotics to help with her foot and ankle alignment, but that’s really the only assistance she needs right now. Hayden can jump, climb a rock wall and do a somersault.

“She is such a joy. ... She has the best laugh you’ve ever heard,” Meeske said. “She loves messy play — if you give her some shaving cream or something like that, she’s all over it. Every time she does a somersault, she stands up to look to make sure that we saw it.”

Meeske, who sees Hayden once a week, credits Hayden’s support system with her growth, from medical professionals to family. Meeske said Zhou has been an amazing force for Hayden and a great advocate for others with SynGAP1. Meeske said she makes it a point to be all over mom groups on social media, meeting up with other families dealing with SynGAP1 to ask, “What’s your experience? Let’s talk about it.”

“There are various resources/support groups in the city,” Zhou said. “For example, NPN Developmental Difference Support Group is a group of resourceful parents caring for children with special needs. Find your village. No one needs to do it alone.”

Meeske didn’t know what SynGAP1 was until Hayden came into her life. She said treating a health condition without knowing about it is pretty common in her field.

“We get a lot of kids who are one in a million, so having a very rare genetic disorder that maybe you won’t see again in your career, maybe you’ve only seen one other time is not an unusual thing for us,” she said. “What we do is assess and treat what’s in front of us. Hayden came to me, and she wasn’t crawling and I took what was in front of me ... the things I saw, and we got her there.”

Phitsanuwong and Meeske don’t really know exactly what SynGAP1 looks like throughout one’s life span because the gene mutation is so rare.

The mutation is a genetic accident that occurs during conception. Phitsanuwong said the disorder is not caused by anything the parents did or did not do during the pregnancy or during conception. It’s just something that one is born with.

Although there is genetic testing for SynGAP1, Phitsanuwong said that because of its rarity, testing is not recommended for everybody. But testing will not cause any changes to the pregnancy or harm the mother. Hayden’s parents don’t have the gene mutation. But if Hayden were to have a child, there would be a 50% chance she could pass on the gene mutation.

“Although genetic disorders seem like it’s something inherited, all the SynGAP1 we’ve known so far is a new mutation, meaning the parents don’t carry the mutation, but it just happened to the child,” Phitsanuwong said. He said that if parents seeany of the symptoms described here, pediatricians would refer patients to pediatric neurologists. He suggests reading sites like syngap1foundation.org and bit.ly/SynGAP1info for more information.

Zhou said she knows it’s hard for parents to have a child with unknown developmental issues. She’s adamant about trusting your instincts and pushing until you find that specialist or test that will give you answers. Seek out affordable genetic panel testing, she said. Getting an early intervention evaluation does not require a doctor’s order.

Don’t wait and watch like your pediatrician suggests, she said. Instead, get a referral to a neurologist or geneticist. And if your kid has epilepsy or something similar, and no one is listening to you, a trip to the ER for an electroencephalogram or EEG — a medical test used to measure the electrical activity of the brain — may be in order, Zhou said.

Coming from a family of Chinese immigrants, Zhou said she understands how cultural mores can keep parents and individuals from sharing their stories outside of their family circle, but she wants to change that. That’s why she is adamant about sharing Hayden’s story.

“I felt as if it is not something that we do in our culture, talk about children with disabilities and our daily struggles,” Zhou said. “We remained private and didn’t really talk about it. But we’ve grown with Hayden and our mindset has changed quite a bit living with this disorder. We owe it to her to raise awareness of our struggle and to celebrate her triumphs and her successes and our hope for the future.”

drockett@chicagotribune.com

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