Fragile X: The Story of Luke
Shutdown of one gene changes a little boy's trip through life
WEDNESDAY, Nov. 19, 2003 (HealthDayNews) -- When Luke Solotaroff was a month old, he still did not have the muscle strength to suck his mother's breast or a bottle.
His parents had to use a tiny tube, one-tenth of an inch in diameter, to coax sustenance into his baby mouth.
By the time Luke was 2 1/2 years old, the situation was no better. His legs were so flexible they could be tied behind his head. He was also developing distinctive features: large, protruding ears and an oval face. And while he laughed and screeched, he didn't form any words.
Luke's parents, Paul Solotaroff and Elaine Stillerman, took their son to several well-known neurologists, who handed down a smorgasbord of incorrect diagnoses, everything from autism to cerebral palsy to something called pervasive development disorder.
Finally, as Luke approached the age of 3, the Solotaroffs got their answer: He had Fragile X syndrome, a hereditary condition that causes mental impairment. The Solotaroffs had never heard of the syndrome, but were now told that it had no cure and was the second leading genetic cause, after Down syndrome, of mental retardation. The Fragile X mutation may affect one in 2,000 males and one in 4,000 females.
"With my kid, there is such obvious intelligence lurking behind those eyes," says Solotaroff, a Brooklyn, N.Y., writer who has just published an article about his son for the November issue of Men's Journal. "It seemed that all we needed to do was find the person holding the right key, so we kept looking and kept looking and never for a minute thought that that person wasn't out there or that Luke was a door needing three or four keys. It was just a question of knocking on the right door."
In scientific terms, Fragile X can be deceptively simple. "It's one gene. It stops functioning so the body is missing a single protein [the FMR protein]," explains Dr. Michael Tranfaglia, medical director of the FRAXA Research Foundation in Newburyport, Mass. and father of Andy, a 14-year-old boy with Fragile X. "The net result is that the synapses overfunction in a specific way."
In human terms, of course, the story is nowhere near that simple, which is partly what Solotaroff wanted to convey in his recent article.
"I wrote a story about what life is really like in the trenches of a cognitive disorder, how the heart is constantly being cudgeled and, at the same time, somehow deepened by the experience of fathering a kid who so desperately needs you," he says.
On the one hand, Solotaroff describes his son, who is now 5, as "ebullient. He is the happiest person I know."
But he also describes him as a "need machine." Luke operates on little sleep and is in constant, albeit happy, motion: bouncing, jumping, flapping his arms.
"He'll wake up at 3:45 ready to party, wanting to have breakfast and watch his first video," Solotaroff adds.
A doctor once likened Luke's brain wiring to "a jack with 10 phones plugged in." Fragile X kids, Solotaroff explains "are unable to filter the important from the completely insignificant." The result is this "overlong stream of information that you are trying to make sense out of while the world is blowing by you," he adds.
But because Fragile X kids are so sensitive and because there are so many nerve endings in the mouth, even the act of brushing Luke's teeth, his father says, "is an act of courage comparable to what Siegfried and Roy did every night."
Solotaroff has taken another apartment where he can work and also sleep through the night twice a week. He and his wife, Elaine, take turns doing night duty for their son. The constant focus on Luke has taken its toll on their relationship.
"What we've really lost with each other is the capacity and opportunity to have fun," Solotaroff says. "One or another of us says 'I feel like a wildly overpaid hospital attendant.'"
Drugs can control various symptoms of Fragile X (for example, the seizures or the hyperactivity) but "it is really hit or miss," Tranfaglia says. None of the drugs are specific to the disease so they can actually exacerbate some symptoms while improving others.
The frustrating but ultimately hopeful thing about Fragile X is that it involves a single gene. This makes the disease potentially curable. Not only is it a single gene, but it's a gene that causes a particular synaptic process to be excessive. It's easier to block an excessive function with a drug than to make up for a deficiency, Tranfaglia explains.
A compound called MPEP that blocks the MGluR5 receptor, which controls the errant process, is being tested in a mouse model and Tranfaglia's organization is trying to find a pharmaceutical company to take it to clinical trials.
In the meantime, Luke has started on a combination of drugs that allows him and, by extension, his parents, to finally sleep through the night. Solotaroff has his fingers crossed but isn't counting on anything.
Except his relationship with his son.
"I never thought I was capable of that kind of intensive hands-on fathering. I thought I would be a good batting instructor for my kid. I thought I'd be a serviceable jump-shot coach. I thought that I would teach him my sardonic way of seeing the world," Solotaroff says. "It never occurred to me that I could connect with someone who couldn't talk."
"What I've learned is that I am capable of responding to this creature in ways that I didn't know I was capable of responding to anyone or anything including my own work," he adds. "I've never loved anyone or anything as much."
"It's primal, and I know this is true of other Fragile X parents. There is something about their vulnerability, about their defenselessness that brings out the mother or father bear in you," he says.