Special needs

Rett syndrome: How life changed after my daughter's diagnosis

"I expected the test to come back positive, but hearing the doctor say the words still left me devastated."

Happy Ava during therapy Three-year-old Ava with her physiotherapist Simona DeMarchi.

In the special needs community, there's a term for the day your kid is diagnosed: D Day. Ours was Thursday, June 12th, 2014 at 11:42 a.m. I remember the exact time because I was impatiently checking the clock when the neurologist called us into his office.

Our daughter Ava was almost two years old and was being tested for Rett syndrome. 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. It's 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 (although in some cases it can appear as early as six months of age). The "hallmark" of Rett syndrome is near-constant repetitive hand movements, but the impairments that come with Rett are far more profound. The syndrome can affect a kid's ability to speak, eat, walk and breathe.

I expected the test to come back positive, but hearing the doctor say the words still left me devastated. My beautiful angel (a pet name we’d given her at birth due to her sweet disposition) was now my "silent angel." I was so profoundly sad, scared and dejected. And also very angry. A list of all the things Ava would never be able to do raced through my mind. In the months leading up to her diagnosis, Rett had been a distant “worst case scenario”—but now it was our reality. 

In retrospect, while D Day was definitely our lowest point, it was also the day we started to claw our way back up. We threw ourselves into learning as much about Rett as possible, leaning on therapists, teachers, doctors and parents in the community. We zeroed in on the positive things they had to say about their experiences. Contrary to many outdated medical descriptions online and in print, we discovered that many girls regained—or learned new—motor skills with the help of intensive therapy. With the rise in recent years of eye gaze technology (computers with special cameras that allow the eyes to act as a computer mouse), those living with Rett not only proved they could communicate, but could even read despite never having been formally taught. And so, our family made a conscious decision never to set limits for Ava. “Can’t” and “won’t” became the worst four-letter words in our house. A good friend and fellow mom of a daughter with Rett syndrome once told me, “If you don’t believe in your kid, nobody else will.”

Today, about 18 months later, Ava is doing better than I ever imagined possible. She has an intense regime of unique physiotherapy called Cuevas Medek Exercises (CME), which helps improve gross motor skills and movements that allow kids with Rett to learn to stand, sit and walk. Ava can walk with assistance and we're hoping one day she can do so independently. She also does occupational therapy on a weekly basis, and she's starting to make small gains in her ability to control and use her hands purposefully.

Perhaps the most striking development is her ability to communicate. Not being able to talk doesn't mean our little girl doesn't have a lot to say. She's learning to use her eye-gaze computer (Tobii) and is progressing quickly, often stringing together three to four words to create complete thoughts. Using various methods of Augmentative and Alternative Communication (AAC), she is showing us how incredibly smart she truly is—she knows all of the letters of the alphabet, is beginning to identify first letter sounds, and can spell her name. We’ve learned it's OK to have high expectations and not set arbitrary limits on her overall potential. Most importantly, we've learned to listen to what Ava has to say, regardless of how she chooses to communicate it.

IMG_1108 Ava uses her Tobii eye gaze computer.

We have so much hope for her future. Suffice it to say, Rett syndrome is not all rainbows and unicorns. It sucks. Really, really sucks. Her therapy appointments take a significant amount of time, money and effort. It's tiring not only for Ava, but also for me. On days when she's not feeling well or her apraxia (a motor planning disorder that affects speech and movement) is kicked into high gear, it's tempting to admit defeat and surrender. But on those days, we lean on each other and rely on the support of family and friends. I know our efforts are not only benefitting Ava, but helping us just as much by allowing us not to feel so helpless.

I don’t know what the future holds for Ava. But I'm confident we're headed in the right direction.

Jennifer Facchinelli is an elementary teacher (on leave) and mom to two beautiful girls.

This article was originally published on Jan 18, 2016

Weekly Newsletter

Keep up with your baby's development, get the latest parenting content and receive special offers from our partners

I understand that I may withdraw my consent at any time.