At 14, Elisa Linton of Toronto is tall for her age, blond and striking. Her laugh is infectious. Her parents, Elisabeth and Randall, dote on her, and her siblings, Connor, 16, and Jessica, 18, simply adore her. Years ago, her grandpa nicknamed her Shooting Star because of her sparkle and energy.
But Elisa has a genetic disease called Sanfilippo syndrome, which means she’s missing an enzyme needed to break down certain chains of sugar molecules in her body. As these molecules build up in her cells, her body can’t develop the way it’s supposed to, and the disease gradually robbed her throughout her childhood of abilities she had developed. Once a chatty little girl, Elisa no longer speaks, and walking is becoming difficult.
Nevertheless, she continues to amaze her family. Most kids with Sanfilippo syndrome are using a wheelchair by age 10. Their average life expectancy is less than 20 years. But Elisa is beating the odds and still always fighting to hang on, says her mom. “Her doctors are quite blown away and thrilled.”
Elisabeth and Randall were in deep shock when they first learned why, at age four, their third child had some speech delays and low muscle tone, which showed up in her inability to do such activities as somersaults. But though they were terrified of what lay in store for them, they realized that the only way to have a normal family life was to enjoy each day as it came. “We made a conscious effort right away to be strong for our kids,” Elisabeth recalls. In the early years, they camped at provincial parks together in the summer, and skied at nearby resorts in winter. “Elisa just fit right in with us.”
But Elisa’s parents also knew they couldn’t ignore the diagnosis, especially as her symptoms became more marked. And since medicine wasn’t making progress to treat their daughter – Sanfilippo syndrome is rare, affecting only one in 24,000 children worldwide – they decided to raise research funds themselves. “We just needed to know that we were doing everything possible to help Elisa,” says her mom.
Through galas, auctions, marathons and golf tournaments, their Sanfilippo Children's Research Foundation has so far raised more than $3 million. Thanks to their efforts, new headway has been made into unlocking the secrets of Elisa’s disease. Researchers, for example, have produced promising results with experimental stem-cell transplants in mice bred to develop Sanfilippo. And results of another study suggest that the supplement glucosamine may improve behaviours such as hyperactivity in kids with Sanfilippo syndrome.
“We will never give up hope that something will happen in Elisa’s lifetime,” says her mom.
The bonus? Not only will this work benefit Elisa, but her miracle will also be shared with the thousands of other children who are wrestling with the same disease.
Many qualities in Elisa haven’t changed. She’s still warm and affectionate. At a kids’ sleepaway camp (one that includes an integration program, which allows kids like Elisa to participate), she relishes watching other kids shout and run around. She giggles out loud when her older brother and sister make funny faces and sounds to entertain her. For her parents, it’s a delight to watch. “They’re great with her,” says Elisabeth. “They love to bring out the best in her.”
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