Among its cruel talents, Rett syndrome is a thief of joy
Seeing young kids at the IRSF conference reminded me of my Abby's lost smile
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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.
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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Nancy Leeds
I’m afraid you are correct, and it’s very sad. My daughter Annie at 38yrs is not as joyful as she used to be. Her smile always gave me a sense of relief. She still gives me smiles when I haven’t seen her for a while, or if I sing one of her favorite songs or interestingly enough, after she’s had a really good meal. It’s hard to have Rett Syndrome. It clearly takes its toll.
Laura
Same with my daughter , age 22. Had the happiest most joyful smile, and eyes full of light and laughter. Gone. Disappeared over the last several years . Heartbreaking .
Yvonne Milne
A bit of background about me and our daughter Clare now 46 years old, who was one of the first in the UK to be given the diagnosis of RTT way back in 1985. This led me to found Rett UK and start what has become a lifetime’s work. I have been thinking about this loss of smiles for some time. Fortunately our daughter still smiles, not all the time of course but she gives great appropriate feedback for us and her caregivers when she is happy, relaxed and when something really pleases her. So……I have a theory about this, not of course grounded in any scientific evidence but it occurs to me that something we have been practising for many years is called Facial Oral Tract Therapy, originating in the UK by a lady called Kay Coombes who coincidentally lives in our home town. It works on the principle that facial muscles and others involved in swallowing etc need to be worked and move. Just think how you smile! Anyway as I said it is just my theory but one I would like to be explored. Happy to chat about this further if anyone is interested.
BEVERLY Farkas
My daughter is 64 years old. She does laugh often and shows little joy in every day life. She is content in watching others but does not speak or use her hands. She loves to travel
in the car. Do any of you have a child in Martha's age range to share with me?I would love to hear from you.