Vivian's Story | Rett Syndrome

Caring for Vivian: A Family’s Rett Syndrome Journey

Like many toddlers, Vivian kept her parents guessing. She’d learn a new skill, then stop doing it for a few weeks. Or she’d miss a few developmental milestones, only to meet them later.

At her 15-month well-child appointment, Vivian still wasn’t walking, so her parents, Emily and Jeff, brought it up to her pediatrician. Together, they made a plan to start physical therapy.

Then one day, when Vivian was around 16 months old, Jeff commented to Emily that he hadn’t heard her say “dada” in a while. At the time, they weren’t worried. After all, they’d just had their second child—a boy, Noah—and as a family medicine doctor herself, Emily knew that kids can sometimes regress when a new sibling arrives.

While Vivian initially loved saying “brother, brother” after Noah was born, she stopped after a few months. Still, Emily and Jeff figured they were probably to blame. They’d recently introduced the word “no” to her, and because Noah’s name started with “no,” they thought Vivian might be confused.

But then Vivian lost the word “mama,” Emily said, and she stopped being able to pinch small objects between her thumb and index finger—what’s known as the pincer grasp. That’s when Emily and Jeff realized something more must be going on.

Mom Instinct Leads Family to Cincinnati Children’s

At 18 months, Vivian was diagnosed with autism. But Emily and Jeff still suspected something else was at play, especially when Vivian began waking up from naps with seizure-like activity.

“As a doctor, I tell parents there’s a mom instinct,” Emily said. “Trust your gut. And if you feel like something needs to be pursued, pursue it.”

Emily followed her “mom instinct” over the next year and a half. After countless doctors’ visits and tests, they finally had an answer: Vivian had Rett syndrome, a neurological disorder caused by genetic mutations that is frequently misdiagnosed as autism, cerebral palsy or a non-specific developmental delay.

Vivian’s pediatric neurologist in Fort Wayne, Indiana referred Emily and Jeff to the Vinaya Rett Syndrome and Related Spectrum Disorders Clinic at Cincinnati Children’s.

Designated by the International Rett Syndrome Foundation (IRSF) as one of only 21 Centers of Excellence across the United States, the Cincinnati Children’s multidisciplinary Rett Clinic brings together different specialists to treat Rett syndrome and its related conditions.

During the course of one stay, patients and families see specialists from across the hospital, including: neurology, developmental behavioral pediatrics, speech and language pathology, physical medicine and rehabilitation, occupational therapy, nutrition, and social work.

“At Cincinnati Children’s, they truly care,” Emily said. “They really do. That’s evident from every provider and every person who works there. And at the Rett Clinic, I feel like they immediately embraced us as part of their family.”

Comprehensive Care for Rett Syndrome

The regression Vivian experienced between 15 and 18 months of age is common for Rett syndrome patients, said Rochelle Witt, MD, PhD, a pediatric neurologist and clinic co-director.

“It’s a particularly challenging disorder for families because it’s a disorder of development,” she said. “Children with Rett syndrome often experience a period of development that appears typical, followed by a phase of stagnation and then regression, with the loss of skills they had already gained.”

“For parents, that can be especially heartbreaking. They spend those early months and years getting to know their child’s personality, celebrating milestones and imagining the future, only to watch skills like communication, hand use and mobility begin to disappear. It’s a profound loss, and one of the aspects of Rett syndrome that makes the condition so difficult for families."

But there are many benefits of a clinic dedicated to supporting patients with Rett syndrome and their families, said Jamie Capal, MD, a pediatric neurologist and clinic co-director.

“Most Rett patients are medically complex, and clinic providers view each patient through the lens of their particular specialty,” she said. “We’re also in constant communication with one another. That ultimately benefits the patient.”

As another benefit for patients, the clinic helps families connect with local support groups and other resources, such as the IRSF.

“The clinic has been great about knowing what we’re going to need before we need it,” Jeff said.

A Holistic Approach to Patient Care

Because Rett syndrome can affect nearly every aspect of a child’s health, a critical component of the clinic at Cincinnati Children’s is developmental behavioral pediatrics.

“My training is in treating kids holistically,” said Susan Wiley, MD, a developmental pediatrician in the Division of Developmental and Behavioral Pediatrics who sees Vivian. “I’m there to think through what might be contributing to different concerns through a medical and behavioral lens—and, of course, to provide support to patients and families across both of those areas.”

One of the first things Dr. Wiley noticed about Vivian was how active she was and how she sought sensory input.

“Vivian’s parents were trying to understand why she had certain behaviors, like biting and scratching, and I worked with them to determine where those behaviors were coming from,” she said. “One source was definitely frustration, but there are many factors that can contribute to the behaviors of a child with Rett, and by understanding them, you can help address them.”

A ‘Whole Other Level’ of Care at Cincinnati Children’s

Vivian and her parents travel three-and-a-half hours every six months from their home to Cincinnati Children’s Rett Clinic. After Vivian was diagnosed with vesicoureteral reflux, a condition where urine flows in the wrong direction once it reaches the bladder, they also now come to Cincinnati Children’s for pediatric urology.

Jeff adds: “Going to Cincinnati is a whole other level. We try to do all our bloodwork and tests there because they just know how to work with kids and kids with special needs.”

“I’m in awe of the care they provide at Cincinnati Children’s,” Emily said. “I’ve been in a lot of hospital systems. Cincinnati is just different. It’s a different mindset. It’s more patient-centered than anywhere I’ve ever been, and it’s phenomenal.”

Because of the highly specialized care provided, Cincinnati Children’s is Vivian’s “care home” for Rett syndrome and vesicoureteral reflux. But she receives most of her medical care from local providers in Fort Wayne, closer to home. That includes gastroenterology, neurology, speech and occupational therapy, primary care, and rehabilitation therapy.

Importantly, all of Vivian’s providers can view her medical records, enabling seamless collaboration and continuity of care.

“We always have an open line of communication with Vivian’s local providers,” Dr. Capal said, “and we consider the care they provide when mapping out our own plans for her.”

In addition, Cincinnati Children’s and Parkview Health in Fort Wayne have finalized a joint operating agreement to further expand access to world-class pediatric healthcare for kids in Indiana and the surrounding region.

Adapting and Thriving

Like most people with Rett syndrome, Vivian primarily communicates with her eyes, but “she is fortunate to have 15 to 20 words she can use,” Emily said, noting that she receives full-time applied behavior analysis (ABA) therapy to help with life skills like eating and going to the bathroom on her own.

Vivian also gets tired easily, so she uses a wheelchair when the family goes somewhere with crowds or where she’ll have to walk a lot. Because she doesn’t like being restrained by a car seat—“Her max is 45 minutes,” Emily said—the family bought an RV.

“It’s all because we were determined to keep going to Cincinnati Children’s no matter what,” Jeff said. “It’s been life changing. We never thought we’d be able to go on vacation as a family, and now we can.”

A New Era of Rett Syndrome Research

Emily and Jeff are grateful for the care they’ve received—and will continue to receive—from Cincinnati Children’s, but they also want to do everything they can for the patients and families who come after them.

That is why they’ve volunteered to participate in a research study looking at clinical trial endpoints in Rett syndrome.

“The fact that they’re a busy family with a child with complex medical needs and still taking time out of their day to help us help other children and families with Rett is just incredible,” said Dr. Capal.

Nearly 60 years after the condition was first discovered, researchers today are getting close to a cure for Rett syndrome, Dr. Witt said.

“We’re now in the age of genomics and gene therapy, and that’s changing a lot,” she said. “Understanding that we’re looking at therapeutics that might not just move the needle but be curative is, I think, amazing for our families.”

While researchers are careful not to overstate what is currently achievable, there is growing optimism that emerging therapies may help individuals with Rett syndrome recover meaningful skills that have been lost and improve quality of life in ways that were once thought impossible.

“For our families, that hope is incredibly powerful,” Dr. Witt said. “The possibility of helping children regain abilities and achieve greater independence represents a remarkable shift in where the field stands today.”

(Published September 2026)