Living with Rett syndrome, living with hope

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 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. “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...
Source: Thrive, Children's Hospital Boston - Category: Pediatrics Authors: Tags: Our Patients’ Stories Alycia Berg Augmentative communication Dr. Jonathan Picker rett syndrome Rett Syndrome Program Suzanne Rose Source Type: news