Ava and her family: Communication is “Just what they do”

Each day gives four-year-old Ava Facchinelli plenty to talk about. The subject might be a field trip with her junior kindergarten class, the music she and her older sister Clara like, or a favorite book. Sometimes she simply wants to say she cannot wait until her dad comes home from work, or express her desire for something specific to eat (like ice cream) or ask to play with a certain toy.

avaclaraLike each of us, Ava has a unique appreciation for all that language lets her do—from making choices and requests to cheering or complaining. Though non-verbal, she is becoming more fluent in self-expression each day. Jennifer and Herman Facchinelli make sure their little girl is never without the Tobii Dynavox I-12 eye-tracking augmentative and alternative communication (AAC) device that Ava uses, her eyes leading the way as she chooses her words.

“Ava takes it everywhere,” Mrs. Facchinelli said. “Exposure is key.”

Mom, dad and Clara, 6, are always modeling use of the device so Ava, whose inability to speak results from her Rett syndrome, learns by their example. “The way I see it,” Mrs. Facchinelli wrote in a blog post, she’s not going to figure out how to use it if she doesn’t see others use it.”  As she later told us, you wouldn’t hand a child a pencil and expect them to write their name without first showing them how.

Those closest to Ava, including her maternal grandparents who live with her family, are forever embedding the technology in whatever happens to be happening in their life on a given day.

“She has this family that has rallied around her like you wouldn’t believe,” said Chicago-based educational specialist Susan Norwell, M.A., ATACP, who is well known for her work in the Rett community. “They’ve really embraced communication as just what they do.”

Rett syndrome is a neurodevelopmental disorder primarily affecting girls, compromising their ability to speak, walk or purposefully use their hands. The condition also compromises the autonomic nervous system in ways that may dysregulate breathing, heartbeat or digestive processes.

“The laundry list of symptoms can at times be overwhelming,” said Mrs. Facchinelli, “but we try to stay positive and celebrate Ava for the awesome person that she is.” She took a leave from her job as an elementary school music teacher to be with her daughters full-time during their formative years.

The Facchinellis have made purposeful communication a top priority for Ava since the day of her diagnosis at age two. Two weeks later, the family drove from their home in Ontario, Canada to a Rett conference in Washington, D.C. There, they met Ms. Norwell who, Jennifer Facchinelli said, “had faith and confidence” that Ava was bright and that others would see it, too. Shortly after, they went to Chicago to meet with her again and together explored ways to support Ava in reaching her potential. At the time, Ava had a Tobii Dynavox PCEye Mini for computer access through her eye movements that they packed up for the road trip. Seeing that she easily engaged in playing cause-and-effect games, listening to music and reading books through eye-gaze techniques, her adult helpers eagerly guided her adoption of technology as her voice.

Ms. Norwell saw as a guest in the Facchinelli home why Ava is so successful. Ava’s parents customized the I-12 from the beginning. Beyond the mechanics of AAC device use, their routine modeling and embedding put Ava where she needs to be in her language and literacy development. A tipping point occurred when Ava spontaneously chose phrases from her I-12 to comment on a story they were reading together. “When you stay at someone’s house, they can’t fake it,” Ms. Norwell said. “That doesn’t happen by accident. I can’t speak highly enough of what the family has done.”

Echoing the praise is Andrea Hatherell, the speech-language pathologist at Holland Bloorview Kids Rehabilitation Hospital in Toronto who sees Ava for therapy. Ava used Tobii Dynavox Sonoflex language software on her PCEye Go for briefly commenting during the activities she also used the device for. But she had more to say and soon started building two- and three-word phrases to share her thoughts. While handling the evaluation and paperwork for the acquisition of the I-12 device, Ms. Hatherell knew what Ava’s parents knew all along: that their youngest daughter, who already conveyed much through eye contact and facial expressions, could accomplish so much more through technology made specifically for communication.

“They’ve really embraced AAC as a language that they have to learn,” she said, recalling her delight

Ava continues to use the PCEye Go for educational and recreational software. She often uses the devices when they told her Ava ordered sweet potato fries at a restaurant using the I-12. “It’s nice to see it being used in the community that way.” Sometimes Ava uses both devices simultaneously, as in the video below where Clara and her are making music together. While Clara plays the piano, Ava has software for playing instruments of her choice and turns to her AAC device to talk about on the music.

The sisters love that they can enjoy (and respond to) each other’s words, their mother said.

While “truly grateful for the incredible technology” and that Ava started young, Mrs. Facchinelli says ongoing communication success will be up to Ava and the people around her. You sense her excitement about the vast stream of language that Ava has yet to encounter.  “We’re trying to immerse her in it. It’s not perfect, but she’s learning.”

“Can’t” and “won’t” are two words that rarely pop up in the process as they scout daily communication opportunities and gently insist that Ava turn to the technology to say why she’s laughing, what’s bothering her or what’s on her mind at the moment.

“She doesn’t always get her way,” Mrs. Facchinelli said, “but I want her to know that when she talks we’re listening.”

Canada Teen Loving Today, Keeping an Optimistic Eye on Tomorrow

It looks like 2016 may be one of Joanne Picard’s best years yet.

Jo with deviceA senior at Holy Trinity Catholic High School in Edmonton, Alberta, Joanne is so-o-o ready to experience a new sort of independence when she fulfills plans to enroll at a Canadian university as a political science major later this year. “I’m obsessed with democracy,” she says.

As Joanne (you can call her Jo) looks forward with optimism, she gives the sense that nothing can stop her from enjoying the present, moment by moment.

“So far, senior year has been pretty awesome,” she says. Jo’s vivaciousness and already independent spirit shine brightly despite the disabilities and health complications associated with Rett syndrome that are part of her life.  Though she is non-verbal, she is articulate and unafraid to express herself. Jo uses an eye-controlled Tobii Dynavox I-15+ with Sonoscribe language software to communicate.  She uses another Tobii Dynavox device, the PCEye Go, to control her laptop and tablet computers through the same eye-gaze techniques.

Signs of Rett syndrome surfaced in Jo as a toddler. Her muscle tone and mobility declined. The condition interrupted her speech development at two years old. Through this regression, others saw her as a smart and social child who wanted to explore, learn and talk about things. The hardest part was that she knew what it was like to talk, but couldn’t. Jo eventually developed a strong blink for “yes” and purposefully looked away when she meant “no”—unaided communication techniques that continue to serve her well today. Her earliest augmentative and alternative communication system consisted of precisely labeled digital photographs of her toys, musical instruments, and all the things she could possibly need or want each day—down her favorite lip gloss. Making constant eye contact with the images, Jo held detailed conversations with the people around her. Her mom, Simone Chalifoux, said there were literally thousands of photos in the collection. “We didn’t want to restrain her ability to communicate to what we thought she should say.”

During elementary school, Jo used a variety of AAC products including a device with spoken language recorded by her peers. At the time, she could pivot her wrists and with support, isolate her index finger, so she selected vocabulary by direct touch. As purposeful hand movement gradually became more challenging for her, Jo tried a device she could access with her eyes. They decided to wait for the technology to advance and have no regrets. Jo got the PCEye Go in the fall of 2014 and the I-15+ a year later. She took quickly to the devices.  Simone and her husband Pierre, both schoolteachers, appreciate that they can more fully enjoy Jo’s company because they don’t have to put as much effort into their conversations as before.

Did we mention that Jo is fluent in English and French? Her family speaks both languages at home. Jo switches between the English and French users on her I-15+ at home and everywhere she goes.

When Jo needs to stay home for extended periods of time for medical reasons, she attends her classes via Skype or Facetime, and her school aide assists her at home. Yet Jo gets out and about quite a bit. Jo is especially pleased that technology lets her be a voice for others.  She is a member of the City of Edmonton Youth Council and its social equity subcommittee, as well as a founding member of the Diversity Club at her school. Together, the roles provide plenty of opportunities to advocate for equality and fairness for minority students, and to help raise awareness of sexual orientations and gender identity policies.

Jo herself is a renaissance student of sorts, thriving academically while pursuing social causes close to her heart. Meanwhile, she loves the cosmetology classes at school that bring out another facet of her creativity. Working around limitations in using her hands, she gives step-by-step instructions for beauty-related procedures through her Tobii Dynavox device to show what she knows.

One of Jo’s favorite helpers and companions is Pépite, a trained seizure-alert dog whose French name means “chip”—as in chocolate chip. Like the confection, the tiny Havanese is easy to love. “She is pretty freaking awesome,” Jo said. Pépite can sense when Jo is unwell, keep her comfortable and alert the people around her.

Jo, no doubt, likes to keep others happy while having fun. Simone says she is a wonderful big sister to Olivia, 10, who loves when they play cards, board games, or even Xbox together. At Olivia’s request, Jo went to see “Alvin and the Chipmunks: The Road Chip” with their whole family at the holidays.

For movie dates with her high school friends, Jo is more likely to choose a chick flick like “Sisters” and maybe sneak in a side trip for shopping or coffee. An avid wrestling and Olympic bobsledding fan, Jo may take to the slopes in her sit ski while winter is here.

Spring and summer are bound to bring pre- and post-graduation celebrations. Jo shared some thoughts on what comes next.

“I can’t wait to exercise the whole university experience,” she said, “from frat parties, to meeting new people from all over the world, to arguing with my professors, to challenging myself in every way to learn and become a better person.”

If Jo looks familiar, you may recognize her from this video we shared before.

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3-Year-Old With Rare Condition Finds The Power of Speech Through His Eyes

Bo&parents&deviceLike most parents, Ryan and Dr. Kim Spangler of Doylestown, PA felt their hearts soar whenever their son Boden said “Mama” and “Dada” as a toddler. They couldn’t wait to hear more from their only child. Social by nature, Bo made great eye contact. He smiled and laughed a lot. In the midst of the excitement of speaking his first real words, he paid attention to the people listening. Bo wanted to be vocal, Kim said. So the Spanglers were deeply concerned and wondered how to help Bo when, a short time later, he reverted to baby talk, apparently no longer able to express language as he would have liked to.

Bo, now 3, has MECP2 duplication syndrome, a rare genetic condition that is the “brother syndrome” to Rett syndrome. It causes learning, memory and motor control deficits. Seizures and recurrent, potentially fatal respiratory infections are also common.

Motor planning issues thwarted Bo’s early attempts to speak in his own voice. Words came out rarely, and inconsistently, but usually in appropriate contexts. His parents focused on his strengths. “He could ambulate so we would say, ‘Bo, can you go do this?’ He could discriminate and follow directions,” his mom said.

Now Bo is rediscovering the power of his voice with the help of the Tobii Dynavox I-12 speech-generating device he got last year and controls through his eyes. “The strides he’s made in just the last five months are incredible,” his dad said. “He’s more open to the process of communication.” Bo’s parents love chronicling his device use on video and didn’t mind at all when he said “My family is crazy!” for the camera.

We’re excited to tell you more about Bo’s communication successes here. First let’s share a little more background:

Bo arrived in the world six weeks before his due date and after a pregnancy with complications Kim believes may have been related to developmental delays her son experienced. “We knew something was wrong, but we didn’t know exactly what it was,” she said of months spent seeking opinions from a number of specialists until a developmental pediatrician confirmed the MECP2 diagnosis. MECP2 happens because the X chromosome has double the normal amount of the MECP2 gene. The condition is relatively new. Discovered in 2005, MECP2 occurs in 1 in 10,000 births and affects mostly boys. Rett syndrome, more common in girls, is associated with a mutation of the MECP2 gene.

The news was jarring. “Our lives fundamentally changed,” Kim said.

Friends since middle school, Kim and Ryan were married with solid careers in Washington D.C. by their mid-20s. Kim studied drug design in graduate school at Georgetown University and went on to earn a Ph.D. in chemistry. Ryan worked on Capitol Hill before becoming a federal lobbyist. She was 29 and he was 30 when Bo came along. They’ve since moved back to Pennsylvania to be around family including Kim’s mom, a special education teacher. Inspired by personal experience, Ryan is on a brand new professional path, working as an educational assistant in a middle school autistic support classroom while pursuing a special education degree.   Kim is a technical team lead for the U.S. Department of Defense. Since Bo’s diagnosis, they have taken on new roles in terms of fundraising for a potential cure and both serve on the board of the 401 Project: Cure MECP2 Duplication Syndrome. They are hosting Cure MECP2 Bucks County in Doylestown, PA on September 22, 2016.

As Bo’s parents, the Spanglers find that acceptance, action and love prevail. Ryan vows to live a day at a time, without worrying about things beyond their control. Kim pushes to find the resources Bo needs to lead his best life.

Bo-device-two“While they do understand that he has limitations, they don’t limit him,” said Shirley Shapiro, a home health care nurse with Bo three days a week. She keeps him safe, administers liquids through his G-tube, and assists him with aspiration and balance issues. Mrs. Shapiro said Bo is just starting to play with the other kids at the preschool he attends, noting that his I-12 device had a part in helping him reach that milestone. “When they see that he’s able to communicate more grown-up thoughts, they understand that he’s like them.”

More people realize Bo is smart as the technology bridges his receptive and expressive language skills.

“He did well with it from the beginning,” said Caitlin Brown, M.S., CFY-SLP, an assistive technology consultant with the intermediate unit and speech-language pathologist. “The amount of vocabulary and the types of messages (he uses) have really increased. We’ve been able to unlock what he knows.” She recommended the I-12 for Bo.

Her colleague Amy Robinson, M.A., CCC-SLP, met Bo in December 2015 and has two speech therapy sessions with him each week. “Bo’s always surprising me. I see progress every time I see him,” Mrs. Robinson said. Whether they read books, race toy cars, build things, or bring out a board game, Bo chatters about the play activities, readily sharing his likes and especially his dislikes. She enjoys watching his skill and spontaneity unfold as he learns to more fully express feelings and respond to “WH” questions.

“He’s so happy he’s communicating. You can see it on his face.””

This past summer, Bo and his parents demonstrated the I-12 at the Bluebird Circle Rett Center at Baylor College of Medicine in Houston during MECP2 Duplication Syndrome Family Conference.  In the spirit of paying it forward, they also gave families a little hands-on time with the technology. Parents were shocked—in a good way, Ryan said, by what their own kids were able to do within 5 minutes. The experience affirmed Kim’s confidence in the technology. “I think kids younger than Bo will be able to do this and be very, very empowered,” she said.

Photography by Stephanie Franko Ferraro

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