October was Rett Syndrome Awareness Month. Rett Syndrome is not rare, (it’s the leading cause of severe impairment among girls) but few people have heard about it. There are only a handful of girls in the Snoqualmie Valley who are diagnosed with Rett Syndrome—and it’s unlikely your daughter is one of them—but we wanted to share the story of Sara and Paisley Rae, clients at Encompass, to illustrate the significance of early intervention pediatric therapies that improve futures for children and also strengthen bonds between family members.
I have the pleasure of telling this story because Sara is my friend. We met through a moms’ group and she reached out to me recently because she knew my 4-year old was diagnosed with autism spectrum disorder the same month her daughter, Paisley Rae, was diagnosed with Rett Syndrome and that my family was making immense progress through Encompass. As she told me her story, many things struck me—most of all, how proud I am of her for advocating for her daughter and finding early intervention options; how bravely she faces the diagnosis; how much we have in common as parents—and how thankful I am to be a part of the Encompass support group for moms of children with special needs (named Mom’s Moment)—because camaraderie and support is essential to reaching your fullest potential (Encompass also has a support group for all mothers, called Moms).
Sara and Paisley Rae’s Story
When I met Sara and Paisley Rae at a mom’s group in 2012, I couldn’t believe how absolutely tiny her newborn was! Paisley Rae was born 4 weeks early and she peeked out from her pink blankets with the most adorably-perfect face I’d ever seen.
As the weeks went on, Sara felt something was off with her daughter. Feeding and sleeping were incredibly difficult—but her pediatrician did not find this immediately problematic. I distinctly remember discussing it within our group and the answer seemed straightforward—Paisley Rae was so premature that she just needed to catch up—surely things would iron out.
The Decision to Get a Developmental Screening and Evaluation
Over time, the effort to keep weight on Paisley Rae and stay rested took its toll. “I just felt crazy and needed help”, Sara recalls. One of the other members of our mom’s group suggested a developmental screening. When Paisley Rae was 8 months old, Sara took Paisley to the Center on Human Development and Disability (CHDD) at the University of Washington for an evaluation.
Early Intervention at Encompass
CHDD referred Sara and her daughter to Encompass for early intervention services, which they began in August 2013—Paisley Rae was 13 months old. At this time, Rett was not suspected and they began occupational therapy (OT) with Nan Kreuger and speech therapy with Jen Cramlet.
“I started working with Paisley right after she was initially evaluated. At that time, we knew that Paisley was delayed with her motor skills but we didn’t know why. Regardless, we met Paisley where she was at and worked toward the next motor milestones—sitting up without support, transitioning to the floor from sitting and working on strengthening her upper body by working on the stairs on hands and knees,” remembers Nan, Paisley Rae’s occupational therapist.
At 18 months old, Paisley Rae began to regress and lose skills. With Rett, early developmental milestones appear normal, but between 6-18 months of age there is a delay or regression in development, particularly affecting speech, hand skills and gait. A hallmark of Rett syndrome is repetitive hand movements that may become almost constant while awake. While Paisley Rae had never hit developmental milestones on a “typical” schedule, her regressions in speech and dexterity were hard to miss—she also had started wringing her hands. So, in January 2014, they began physical therapy with Nicole Demetrescu and special education with Sally Rasmussen.
“Our goals were social-emotional development, understanding cues and preschool readiness—these were determined through a consult with Sara,” says Sally.
Physical therapy began with work on rolling, crawling on her hands and knees as well as up the stairs. “I taught Sara some strategies for full-body massage to help Paisley develop body awareness, as well as help her tummy digest! Over time she grew stronger, so we progressed to more activities in supported standing and on transitions (e.g. pulling-to-stand). We ordered her a gait trainer to support her body as she grows in strength and to practice the reciprocal motion necessary to walk,” adds Nicole. “Paisley Rae really responds to Sara’s voice, which is soft and warm, and to Sara’s encouraging demeanor. Paisley Rae surprised us all with four beautiful steps in her gait trainer. It was a really special moment for Sara—and one I’ll always remember!”
“I started working with the team again to focus on fine motor skills with Paisley, allowing Nicole (physical therapist) time to focus on her gross motor skills. We will focus on how best to handle her loss of hand function (how will she activate toys, feed herself etc.) and explore, with Paisley Rae’s parents, what the priorities are for her therapy,” says Nan.
Receiving a Diagnosis
Sara took her to a neurologist in the spring of 2014 and they began the challenging process of getting the evaluation (the genetic testing has to be pre-approved). Although the doctor said the results of the evaluation and testing would take a few weeks, Sara’s instinct as a mom knew it was Rett.
“Getting a diagnosis was a relief. Now I know how to help her,” says Sara.
Building a Relationship
Although Paisley Rae has spoken and taken a step, it’s not consistent. Some days she is too fatigued to even eat. As her mother, Sara struggled with Paisley Rae not being able to speak and voice her feelings, especially when she is upset or ill (95% of girls with Rett never speak). One solution that has helped immensely is having Sally record them interacting. Sally can see the subtle non-verbal communication cues Paisley Rae gives, such as arching her back (“I’m done”).
“Sara has become an expert reader of Paisley Rae’s subtle and often non-traditional cues. A shift in her eyes, shaking in her arms and the tipping of her head are all distinct forms of communication that Sara can interpret and give voice to,” comments Sally.
“She’s [Sally] taught me so much about my daughter,” Sara says.
Cognitive assessment in children with Rett syndrome is complicated, but they understand far more than they can communicate, evidenced by their bright and attentive eyes, and their ability to express a wide spectrum of moods and emotions.
What’s Next for Sara and Paisley Rae?
They will continue working with their pediatric therapy team at Encompass—and because Encompass encourages families to join in therapy, it is also a way to bond with Paisley Rae in a fun environment. Her family has been extraordinary in embracing the therapy routine.
“Paisley Rae’s parents are the real therapists here—they are so committed to her and follow through on suggestions and recommendations,” Nan commented.
Sara also is building a network of support with other Rett moms nationwide via the Internet and with local moms of children with special needs through the Encompass Mom’s Moment group. Mom’s Moment meets on the first Monday morning of every month and schedules additional evenings out to establish camaraderie for moms on a different developmental road with their children.
Despite its multiple handicaps, Rett syndrome is not a degenerative disease. Many individuals with Rett syndrome live long into adulthood.
More About Early Intervention
The first years in a child’s life are a time of rapid brain development that will never be matched again. Parents can help their children take full advantage of this rich growth period by connecting with Encompass and prioritizing developmental screenings and early intervention pediatric therapies to make major leaps forward in everything from language and speech development to interpersonal interaction. Children whose delays are caught during this time see much better long-term progress results than those who are treated later.
Early Intervention Services (0-3) – these are often in home or childcare settings
Social skills classes
Wired for Reading
Call 425.888.3347 if you have questions about your child’s developmental progress—you can schedule a private and free developmental screening.
Why Getting Involved in Rett Syndrome Awareness Helps Find a Cure
Today, there is no cure for Rett. However, the good news is research has proven Rett Syndrome is reversible—awareness is required to make this scientific finding a reality in the lives of millions of girls. For more information about Rett Syndrome and how to get involved (connect, advocate, donate, participate), visit: https://www.rettsyndrome.org/
ABOUT THE AUTHOR Colleen Burin is a mother to two boys under the age of 5. Both her son on the spectrum and her neuro-typical son are active in the Encompass Early Learning Program. She lives in North Bend and works for Microsoft and Encompass.