Seven lessons I’ve learned from Rett syndrome

Mom and AvaAs a mother of a child with Rett syndrome, a disability that affects the brain’s ability to plan or coordinate motor skills, the phrase “take for granted” takes on a whole new meaning. I cannot take for granted that Ava can recite her A, B, C’s or feed herself a snack or go to the bathroom on her own. Quite the opposite. Every day, I strive to properly appreciate the effort it takes for Ava to perform the most mundane tasks. I am the one being “schooled” on Rett syndrome.

Here are seven of the things Rett syndrome has taught me:

1. Technology is seriously cool. 

Ava doesn’t speak, but she can communicate. She uses a speech-generating device with eye-gaze technology that detects the box or symbol she is looking at on the screen and speaks the words it represents. The grid of symbols represent everyday activities, needs, expressions and feelings. It has been invaluable to be able to hear Ava’s “voice.” She navigates with so much ease it’s scary.

2. How to adapt.

Rett girls engage in a stereotypical hand movement, like a hand-washing or wringing that renders their hands useless. You can break the pattern temporarily — hold one of her hands and she will focus on using the free hand to lift a fork to her mouth. But inevitably, the fork will be dropped as she tries to find that other hand. If she had hand use she could learn sign language. She could dress, feed, bathe and toilet herself. Yeah. This one hurts.

Ava gets a hug from big sister, Zoe
Ava and big sister, Zoe

3. Patience.

Rett syndrome’s most profound disability is apraxia, or the inability to carry out a cognitive intent. Ava needs anywhere from 10 to 18 seconds to respond to your request. That’s a LONG time to wait. Ask her to make a choice between cereal and fruit for breakfast and you can see the anxiety build on her face. I’ll take any queue as a response. She may separate her hands temporarily to reach out and indicate her choice, or stare it down like a child possessed. My favorite is the full on rushing tackle. Cereal it is.

4. How to deal with bizarre symptoms.

Ava holds her breath. It freaked me out the first time it happened. Ava turned blue and I screamed for help. Now it’s just part of daily living. She holds her breath. Constantly. An awful side effect of breath holding during meals is swallowing air. Awful because all that air gets trapped in her colon and her belly. Her belly swells by the end of the day until she looks like she swallowed a beach ball.

5. How to deal with bizarre symptoms, part two.

Bruxism, also known as teeth-grinding. Like fingernails to a chalkboard. We hear it ALL day. The harder Ava concentrates, the louder and more intense it gets. Makes my eyes water. I give her a hug, tell her to take her time, and she relaxes and lets go.

Ava and Zoe wearing cowgirl hats

6. The need for respite.

I never heard of that word until our social worker mentioned it as an offered service. A provider will care for your child while you… rest. On any day, take note of how many times your child feeds themselves a snack, goes to the bathroom on their own, dresses themselves, plays with a toy or engages in a conversation. Ava needs assistance with every one of those tasks. Imagine how that adds up in a day. We are so blessed with nanas, papas, grandpa and a rock star nanny to offer us these tidbits of time.

7. In the end, she’s just a kid.

Ava is all about the party — she even has a party dance. She’ll rock side-to-side shifting from one foot to another. Then the party really gets jumpin’ and Ava shifts to over-stimulation mode. Now she’s rocking forward and back. That’s when we know it’s time to dial it back. She never loses it though. As long as there are other kids around — laughing, dancing, chasing siblings — Ava knows she’s part of something fun.

Ava dancing with Zoe

Learn more about the Rett Syndrome Program.