Living with Rett syndrome, living with hope

Ava, age 7, has Rett syndrome.For the first year of her life, Ava Gryniewicz seemed to be developing like any other happy baby. She had learned a few words, including “mama” and “dada,” and was picking up Cheerios with pincer fingers.

But by the time she was 14 months old, everything had changed. Ava started to lose these skills and wasn’t reaching other milestones. At the recommendation of her daycare center, she started early intervention.

“She wasn’t keeping up and her daycare providers were concerned that standard daycare might be too much for her,” says her mom, Joanne. That’s when Joanne and her husband Jack decided to have Ava evaluated.

An evaluation leads to a diagnosis

“When we got the results, we knew there was a larger issue,” Jack recalls. Ava had scored in the less than one percentile on all six of the tests.

Ava with older sister Zoe.
Ava with older sister Zoe

However, the cause of Ava’s delays wouldn’t become clear for another six months. That’s when her behavioral pediatrician noticed Ava was clasping her hands behind her back — a telltale sign of Rett syndrome, a rare neurological condition that usually affects only girls.

Seven lessons I’ve learned from Rett syndrome, written by Ava’s mom, Joanne.

“She recommended we do the screening for Rett, and we got the official diagnosis two months before her second birthday,” says Jack.

They met with Dr. Jonathan Picker, a geneticist at Boston Children’s Hospital, who explained that Ava’s loss of skills was a hallmark of the condition. They learned that, like Ava, most kids with Rett develop along a normal path for anywhere from 6 to 18 months and then begin to lose the skills they’ve gained.

“It was a hard diagnosis to hear, but Dr. Picker was wonderful at answering our questions and explaining what to expect,” says Joanne.Hand wringing is a common symptom of Rett syndrome.

The silence of Rett syndrome

Kids with Rett can have a wide variety of symptoms, though most have trouble with speech, learning and coordination. Some also have autism-like symptoms. Ava doesn’t, though she is not able to speak.

“Like some girls with Rett, Ava really speaks with her eyes. The amount of feeling she’s able to convey through her eyes is incredible,” says Suzanne Rose, a nurse practitioner who worked with Ava in the Boston Children’s Rett Syndrome Program. “You can see when there’s something she really wants to communicate.”

Because of this ability, Ava’s able to use a special eye tracking device, called a Tobii, to communicate her thoughts, needs and wants by looking at certain pictures or words on the device’s screen. The technology has been a big help in communicating with her family, school and clinicians. Alycia Berg, a speech language pathologist at the Boston Children’s Augmentative Communication Program in Waltham, works with Ava to continue to develop her skills in using the device.Ava dances with The Beast on vacation.

Ava’s other symptoms include hand wringing, breath holding, extreme anxiety, balance issues (though she does walk) and digestive problems. So far, Ava has not had seizures, another common feature of Rett.

“Every girl with Rett is different because each has their own mutation of the gene,” explains Rose. “There are definitely similarities, but I have never met two girls with Rett who have exactly the same symptoms.”

At this point, Ava does not seem to be developing any new symptoms, so her parents are focused on helping her maintain her current skills through many types of therapy. She also continues to have yearly visits at the Rett Syndrome Program and sees her other providers at Boston Children’s as needed.

Becoming a rock star on the playground

This school year, Ava has blossomed socially since moving from the collaborative school she had been attending to the same local school her big sister Zoe attends.

“It’s been an unbelievable experience. She’s really enjoying school and starting to learn more,” says Joanne. “And the kids just love her — she’s like a rock star on the playground. She has lots of friends and is so happy and so giggly.”

Besides school, Ava loves anything that involves feeling the wind in her hair, like going to the beach, riding her adaptive bike and chasing waves. She also loves watching sports with Jack, reading with Zoe and anything to do with Mickey Mouse.

Ava and her family on vacation.
Ava and her family

Joanne says their main goal is to keep Ava healthy, happy and involved in her community. “We’re hopeful for a cure, and we want to keep her mind active and her body strong in anticipation of that day.”

Learn more about the Rett Syndrome Program.