Among its cruel talents, Rett syndrome is a thief of joy

At the International Rett Syndrome Foundation’s (IRSF) conference earlier this month in Minnesota, which I attended, there was quite a lot of talk in the scientific presentations about gene replacement, gene activation, gene silencing, and such. Also at the conference, there were quite a few young kids with Rett syndrome, all of whom were adorable.

I hadn’t been to a conference in decades. It had been a long time since I’d been around that many children under 10 with Rett syndrome. And what struck me throughout the conference was that, no matter their condition — in wheelchairs or not; with feeding tubes or not — these youngsters (or at least the ones I saw) were all bubbly and smiley and full of what I can only describe as joy. Sure, they had their cranky spells, and they slept a lot, but for most of their waking moments that I witnessed, they seemed to be enjoying life in that contagious, makes-everyone-around-them-smile sort of way.

Our own daughter Abby, who has Rett syndrome, once looked just like these kids. When she was young, even though she’d been through Rett syndrome’s cruel regression stage and lost her speech, hand use, and the rest, she had an easy laugh and an infectious effervescence.

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The International Rett Syndrome Foundation conference, then and now

But somewhere between then and now — Abby is 29 — most of the joy went out of her. She doesn’t wake up eager to experience the world. She doesn’t often register happiness at seeing an old friend or sampling some decadent new food. She laughs so seldom that when she does, her mother, Donna, and I suspect some kind of mild seizure rather than amusement.

“I miss the smiles,” Donna says about once a week.

Of course, you can’t expect your kid to forever remain the impossibly bright-eyed optimists that those youngsters at the Rett conference seemed to be. Stereotypes morph with age; “bubbly baby” becomes “surly teenager.” So some of Abby’s moroseness at 29 is probably just natural aging. Still, I’m pretty sure that even the surliest teenagers — or 29-year-olds — in the neurotypical world laugh once or twice a day. Abby doesn’t.

It’s also possible that this is an Abby thing rather than a Rett syndrome thing. Maybe she’s just naturally miserable, and there are other 29-year-olds with Rett syndrome who greet each day and moment with excited anticipation. But Facebook posts by other caregivers of women in Abby’s age bracket have commented on the same absence of exuberance we see in Abby. Like Donna, they miss the smiles.

Which brings me back to those scientists who spoke at the Rett syndrome conference. Maybe one of them could figure out how to silence the glumness gene and reactivate the one responsible for joy?

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