Down at the cellular level, FMRP controls a whole cascade of molecular interactions which work on those synaptic connections. One of these molecular receptors is linked to cognition, mood, and anxiety. A new drug restores function to this receptor.
A study just published by the MIND Institute and Chicago's Rush University, two of the top fragile X research centers in the world, concluded that kids treated with the drug, called arbaclofen, showed improvements in sociability and reductions in anxiety.
Kelly Nicolaisen
Nick Walker is autistic and teaches aikido, which appeals to his pattern-oriented thinking and also helps him process the world.
Kelly Nicolaisen
“Autistic people have fewer sensory filters and live in a more intense world than non-autistic people,” he says.
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The mothers of kids who were on the drug describe a child they knew was in there, emerging more fully.
"He seems to be more aware of everything around him, good and bad," says Cari Wheeler of her 11-year-old son, Max, who's been on arbaclofen for about a year. The family lives near Madera, and they have been bringing Max to the MIND Institute since he was a baby. "He's putting sentences together and saying stuff on his own, which he wasn't doing before." Wheeler credits arbaclofen for the improvement in Max's language skills, which have made him more willful and independent.
She also notices now that he's sad sometimes, which could be a consequence of growing self-awareness from the drug, or a sign that he's expressing what was once locked inside. Either way, it highlights a kind of strange risk of developing drugs that take essentially happy people who live in their own worlds and usher them into the wider one. When asked whether she'd opt for a hypothetical magic-pill-type cure for Max, given the risk of what might be lost, Wheeler says, "I kind of look at Max and he's so innocent and so sweet that I would hate to lose those qualities. But I want him to have the most functional life."
Janet Rivera in Whittier doesn't worry that a drug will change her son Kenny into somebody else. "Kenny will be Kenny," she says.
Rivera says her 12-year-old son, who's been on arbaclofen for a few years, had behavior problems and, like Max, began talking more after starting the medication. He's still got issues with anxiety, but she looks forward to further improvements.
"It's gonna enhance him, help him learn a little bit better." she says. "It'll help him more with his life, I think."
Rivera's opinion on fragile X is typical of parents of disabled children: They see the kids as separate from the condition. She can say "I don't know if fragile X will ever be gone. I hope one day it will be," without suggesting that her son is worthless. It's person-first thinking, and it's hard to see it as other than good and decent. For Janet Rivera, like many, finding viable treatments now may mean that her child will be able to take care of himself after she's gone.
Mark Bear, the researcher at Massachusetts Institute of Technology whose discovery of the protein's function in 2003 led to the current crop of drugs, sees this one little-known type of autism potentially affecting other forms of autism. "I'll be extremely pleased if 'all' we've accomplished is helping people with fragile X," he says. "There is the hope that maybe a lot of individuals with autism may respond to treatments that are effective in fragile X."
Since there is a constellation of autisms out there with a variety of causes — combinations of genes and environments — no one drug will likely affect all kinds. But the possibilities of big changes are such that both Roche (a partner with Seaside Pharmaceuticals, which Bear co-founded) and Novartis, two of the largest pharmaceutical companies in the world, are rushing to develop these new treatments for fragile X and other forms of autism. It's potentially a very lucrative market.
This is where ASAN's Ne'eman gets nervous. Ne'eman, who was named by President Obama to the National Council on Disability, agrees with using drugs to help autistic people, but worries that genetic research is heading toward engineering autism, and by extension autistic people, out of the gene pool. "If there's one thing that America's horrid experimentation with the 20th century eugenics movement should have taught us, it's that it should always be a problem when we talk about eliminating a segment of the population," he writes. "To us, saying that autism should disappear from the world is the same as saying that autistic people should disappear from the world. The way our brains work can't be held at arm's length from ourselves."
This might seem like slippery-slope hogwash, but for a few facts. One: Prenatal testing has led to the termination of at least 50 percent and perhaps as much as 90 percent of Down Syndrome fetuses. And two: In a 2011 study in which 108 mothers of fragile X children across the country were polled about their future reproductive decisions, 77 percent said they wouldn't have any more children. With a new blood test for newborns, mothers are able to learn whether they and their child carry fragile X before any symptoms even show up, and can make those reproductive decisions earlier. So while engineering babies for hair color and tennis aptitude may be decades away (emphasis on "may"), we are shaping the human genome here, now, by omission. This is why the perception of autism is so important. Is it a disease to be scrubbed from the system? Or a valid and growing culture? If the population of the world is about 7.075 billion and one in 88 of those is autistic, that's about 80 million autistic people in the world, just less than the population of Vietnam. So if we regard the autistic culture as valid, is it an act of genocide to eliminate them from the gene pool?
