Lifestyle

UNSPEAKABLE DIFFICULTY: La Jolla Elementary student with rare disease reaches out

“What’s your name?” Liesl Kijora asks her first-grade classmate.

Christopher Sammartino searches for the answer on an iPad running an app called TouchChat. When he finds the right icon, he presses it and a synthesized voice, not unlike Stephen Hawking’s, utters what he wants to say.

“My name is Christopher Sammartino,” replies the iPad, and the boy flashes a smile.

This was the opening act of La Jolla Elementary School’s talent show, Feb. 23. Christine Sammartino thought it would be a novel way for her son to prove to the students he sees in the hall every day that he does have thoughts, pretty normal ones in fact, just ones he can’t always express with his own voice.

Christopher Sammartino and his mom, Christine, interact following his act in the La Jolla Elementary talent show.
Christopher Sammartino and his mom, Christine, interact following his act in the La Jolla Elementary talent show. Corey Levitan

“For someone like him,” Christine said earlier, “it is a talent just to be able to communicate.”

At first glance, Christopher looks and holds himself like any other 6-year-old boy. But, like one in every 6 million people in the world, he suffers from a rare disorder called Phelan-McDermid Syndrome. One of its hallmark symptoms is a severe delay, or complete absence, of speech. Christine describes it as being “trapped, kind of like Helen Keller.”

“We’re hoping that this device helps him, that the words will flower better as he gets older,” she said of the iPad, which they call his “talker,” adding that he can say about 50-100 words unassisted already.

“Everybody has challenges in life, and this is his challenge,” Christine said.

Christine Sammartino (left) coaxes a smile from her son, Christopher.
Christine Sammartino (left) coaxes a smile from her son, Christopher. Corey Levitan

Genetic cause

Phelan-McDermid is caused by the deletion or disruption of a segment of chromosome 22. Some of its other common symptoms that affect Christopher include the inability to potty-train, diminished muscle tone and dangerously high pain tolerance. He hasn’t been tested for two other hallmark symptoms — intellectual disabilities and autism — because the tests rely on verbal feedback. But Christine said she’s hopeful he dodged those, and notes that he is 95 percent mainstreamed at La Jolla Elementary. (He attends virtually every mainstream class, along with an aide paid for by the school district.)

“Mrs. Rice calls on him for answers, and he fully understands whatever a first-grader would understand perceptively,” Christine said.

It even seems inaccurate to report that Christopher suffers from Phelan-McDermid, because he seems like a pretty well-adjusted little guy. At his house before the talent show, Christopher tried assembling several puzzles strewn across the living room floor and wrestled beside the coffee table with his 8-year-old older brother, Joey. (When asked to describe the most pronounced difference between Christopher and their younger brother, three-year-old James, Joey replied that “Christopher is my nice brother,” explaining that James socks him.)

CChristopher Sammartino (left) plays with his older brother, 8-year-old Joey, in their La Jolla home.
Christopher Sammartino (left) plays with his older brother, 8-year-old Joey, in their La Jolla home. Corey Levitan

At school, Christopher isn’t bullied, according to his mom. In fact, she says that “kids come up to him all the time and ask if they can use his talker.” Some of those same kids are now shouting words from the audience for Christopher to repeat with his iPad. One student shouts “Say pasta!” From the look on Christopher’s face, that’s going to be a difficult one.

Prognosis

Christopher receives 25 hours of therapy a week. This includes speech therapy, but also physical therapy and horseback riding for his weakened muscle tone. Yet Christine says she doesn’t have unrealistic expectations of what is possible. “He’s not going to drive a car, so bring him to walk to the beach when he’s 25 with an aide to help him. This way, he can just enjoy life and not be trapped on a bed in a room.”

Currently, not enough data is available to determine an average life expectancy for Phelan-McDermid patients, because most people diagnosed are still young children. “We don’t know,” Christine said. “This is a rare disease. But he’s not dying of cancer. We’re going to have him for a long, long time.”

Back on stage, Christopher continued trying to find an icon for pasta as the audience watched in awkward silence. Christine knows there is no pasta icon, so she pressed “spaghetti” instead. The audience laughed.

After the performance, Christine noticed something about Christopher’s talker that she didn’t on stage and began to beam: the letters “p-a-s-t” typed directly into the TouchChat function that bypasses the icons and directly broadcasts the word. “He was trying to spell out ‘pasta,’ ” she said.

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