This story is about angels and demons, love and heartache, courage and hope. But most of all, it’s about a little girl named Ava learning to do what Stephen Hawking thought was too difficult to master and a family strong enough to help her succeed.
Meet Jennifer and Herman Facchinelli. They are two amazing parents fighting to free Ava from a body that prevents her from speaking, controlling the use of her limbs, or communicating in any of the usual ways we do. It’s hard to imagine the reality of a neurological disorder that traps a person inside their body. It would be terrifying.
But like all great parents, Jennifer and Herman would stop at nothing to provide the best for their two beautiful daughters, seven-year-old Ava and her big sister, nine-year-old Clara. So when Ava was diagnosed with Rett Syndrome in 2014 at 22 months, they realized success would require every ounce of love, patience and determination they had.
This rare condition affects one in every 10,000 children and never giving up means learning as much as you can about how to fight it and provide the best future for Ava. I had the privilege of chatting recently with Jennifer about Ava’s disability and the Tobii technology Ava is learning to use.
According to Jennifer, “the symptoms of Rett Syndrome are often described as a mix of cerebral palsy, Parkinson’s disease, autism, anxiety disorder, severe apraxia, scoliosis and epilepsy. Rett syndrome is a rare, non-inherited genetic disorder that almost exclusively affects girls, and it tends to rear its ugly head just after their first year of life. The “hallmark” of Rett is near-constant repetitive hand movements, but the impairments that come with Rett are far more profound.”
When Ava was just a baby, Jennifer noticed she wasn’t mastering the usual milestones of progress so she pushed her doctor to test Ava for this rare condition. Sadly, many Rett cases go undiagnosed and apraxia symptoms associated with the disorder make the condition extra challenging. Apraxia is motor disorder that affects speech and movement. While she understands everything and knows what to do, she has difficulty executing movements and coordinating her muscles thus affecting her ability to walk, talk, and to use her hands purposefully.
While a treatment plan and therapy sessions help, they involve significant time, money and effort. As you can imagine, it’s exhausting for Ava and Jennifer, shuttling to appointments and managing the emotional stress. Ava’s treatment includes occupational therapy, and a specialized physical therapy known as Cuevas Medek Exercises (CME) three times a week .These are dynamic kinesthetic stimulation exercises that help to limber rigid muscles and recover developmentally delayed areas of the brain.
Daily Life and the Tobii Machine
Ava wakes most days at 5:30 a.m. but needs extra attention if she can’t sleep or she wakes in the middle of the night. Herman is always there to help and spends time keeping Ava physically active. It’s a difficult balance for he and Jennifer, whose parents try to help when they can.
Daily life for Ava is a family affair that extends into Ava’s school, where teachers also help to make life a little bit more manageable. Jennifer has learned not to be shy about asking for support and in turn, gives back to other families affected by the disorder by writing articles and speaking about Rett’s.
On days when Ava’s not feeling well or her apraxia kicks into high gear, it’s tempting for Jennifer to admit defeat. But instead of surrendering to the overwhelming physical and emotional demands, she perseveres knowing Ava feels the strain too and also gets anxious. When this happens, Jennifer encourages Ava to relax and ‘go with the flow’. This gives her space to exercise her own choices and a renewed sense of freedom and positivity.
I was surprised to learn Ava attends regular school with the help of a teacher’s assistant. Her mother’s background as a music teacher has been invaluable for navigating the school system and helping Ava connect with others. In fact, Ava has many friends and regular play-dates, much like the one she enjoyed on a recent Saturday afternoon with five friends coming to hang out.
This demonstrates just how resilient and open kids can be. Jennifer agrees, saying they have less bias and talk, act and let things be as they are. It’s a great reminder to the rest of us who, on the best of days, find it challenging to be truly tolerant and accepting of others.
Life for Ava and others living with Rett syndrome has changed dramatically with the remarkable help of a Tobii machine. It’s a computer that harnesses eye-gazing technology to help non-verbal kids like Ava communicate. The Tobii technology consists of cameras, projections and algorithms used to captures reflection patterns in the user’s eyes. The cameras track the users eyes and allow them to act like a mouse, giving them the ability to click wherever they want on the screen. Ava uses a specialized vocabulary system giving her access to click on thousands of words, phrases, and a keyboard.
Essentially, you can point and interact with the computer in more natural ways than a mouse or cursor, providing a “humanized technology” approach for doing a host of things – from gaming, reading and voice communication.
Tobii is a lifeline for Ava even beyond the communication function. She also uses it as a creative outlet for art and music, to read and explore books independently, and for fun things like playing games and watching videos. It’s also, of course, a tremendously challenging machine for her to master given the complexity of learning so many new tasks all at once.
Naturally, it takes a toll on her emotionally and physically. There are practical challenges you might never consider like eye fatigue. Eventually, the goal is for Ava to be literate and to continue learning to better express herself. She is on her way there and is learning to read and write. Jennifer, Herman, and Clara (and her team of teachers and assistants at school) are determined to make this a reality.
I couldn’t help but wonder how Ava’s sister, Clara was managing with all the attention on Ava. But any concerns disappeared when Jennifer shared this video produced by Canada Learning Code. In it, Clara talks about learning to code at just six years of age and how she feels about her sister. What resonated most in the video was Clara love for Ava and how proud she was to be her big sister.
Clara is undoubtedly changing Ava’s world and will continue to reshape the larger world with her kindness and compassion. As a student in French immersion classes at school, Clara is already most fluent in the language of love and entrepreneurship. She’s wrapped them in one giant ball with an impressive understanding of how the Tobii machine works and how to code in 3D.
Using her own money on beginner virtual reality (VR) glasses, Clara is busy downloading programs and creating her own VR scenes to share with Ava. She also creates games that are accessible for Ava to use via eyegaze in a coding program called Scratch. Seeing the need for accessible games in the eyegaze community at large, Clara shares them online with other kids who face similar disabilities.
Jennifer has captured some of the family dynamics on YouTube, including scenes like Clara sharing her love of music with Ava and improvised tunes where Clara and Ava interact using Ava’s computer. Other silly scenes like their giggles at bedtime are equally enchanting. What’s more, Clara and her dad also work hard to raise money for their Angel Ava Fund for Rett syndrome research! Recently, Herman and Clara organized and operated a Lemonade Stand that net over $3000.
After learning about Rett syndrome and the physical challenges that lay ahead for Ava and her family, I am humbled. Thankfully, promising trials are happening in gene therapy and family support groups offer hopeful roadmaps to families navigating this harrowing disease. Thanks to their love and a willingness to share their personal story, the Facchinelli’s give us hope and set a new standard for words like love and happiness.
To learn more about Rett syndrome, click here. See below for video links to some of Ava’s amazing videos and check back early in 2020 for more information about contributing to the Ava Angel Fund.
After one month, Ava chatting at dinner:
Ava being silly with her sister, Clara and the special bond the girls have as they giggle at the end:
Ava making music with her sister: