Getty Storm is wide-eyed, like most babies. But another unusual trait inspired her parents, Mark Storm and Kate Mathany, to nickname her "owl."
"She has this depth and wisdom about her like she was born an old soul," Mathany said.
Getty shares more with an owl than her calmness and concentrated gaze. Sixteen months old and the namesake of the Getty Owl Foundation, Getty is limited to hooting and cooing. Beginning words like "mama" or "da-da" elude her and she may never be able to talk.
Getty inherited spinal muscular atrophy (SMA), a genetic disorder that will eventually claim her vocal cords. Just as Getty defies SMA with her every chirp, so have her parents spoken up about the crippling condition.
In March, Storm and Mathany started a foundation to raise local awareness of SMA and support the larger efforts to cure or mitigate it.
Their nonprofit will hold a fundraising event this Second Saturday, on behalf of afflicted families and a research center, but not Getty directly. The plan is for a solidarity walk and an art auction.
All of the art auction's proceeds will be funneled into the gene therapy program at Nationwide Children's Hospital in Columbus, Ohio. The artwork comes either from SMA children or their relatives. Getty's parents say she owes her life to the input and generosity of SMA families.
Typically, children like Getty with SMA Type 1 the most common and severe of the four types will not reach their second birthday. Their progressively weakening muscles make it harder to swallow and breathe, and impossible for them to move, apart from a reflexive floppiness known as hypotonia.
"With proper care and diligence, children with SMA have more of a chance to outlive the statistics," Mathany said.
In Getty's case, her SMA went undetected for four months after birth. During a routine checkup, Getty's parents told the pediatrician, as an afterthought, that she couldn't lift up her head yet.
"Babies are never totally proportional, so we didn't think much of it," Mathany said.
The diagnosis stunned Mathany, a former college athlete who described her pregnancy as "absolutely flawless." The glucose tests and kick measurements all came back normal, she said, and prenatal screenings for SMA are done only upon request. Nothing seemed wrong with Getty until certain milestones passed her by.
Before Getty's diagnosis, neither of her parents knew they each carried the recessive gene causing SMA. One in every 40 adults is a carrier, according to SMA specialists, which means the disease is transmitted to roughly one per 6,000 newborns.
"This could happen to anyone, and most people don't know if they're carriers," Mathany said.
Getty is effectively a quadriplegic, unable to control her limbs. She has a feeding tube running through her stomach; without it, food might travel into her lungs and result in a life-ending infection.
To care for Getty around the clock, her parents made some tough decisions. Mathany quit her full-time job as a teacher, even though the couple had struggled on two incomes to pay for Getty's medical supplies and expenses.
"Our motto is: 'What's good for Getty?' Other things have had to go by the wayside," she said.
Their priorities having shifted, Mathany and Storm decided they should be vocal about SMA, rather than keep vigil stoically.
"If we're quiet, then nobody is going to know about SMA," Mathany said.
Getty's father stressed that SMA impairs her physically but not cognitively.
"These are regular kids who just can't move," Storm said. "They're weak but vibrant in all other respects."
Chrissy Scott, a volunteer with the Getty Owl Foundation, admires Mathany and Storm for choosing action over resignation. "They have gone way beyond accepting SMA, and they're trying to kick its butt," Scott said.
Getty is bedridden most of the time. Transporting her is a chore, and she is vulnerable to outside germs. Nevertheless, Getty's parents find it important to stimulate her, even if that means taking certain risks. They have taken Getty to the zoo, the aquarium and a River Cats game.
In return, Getty brings them joy. "She smiles every day, and that encourages us to do the same," Storm said.
A cure for SMA might come too late for Getty, if her motor neuron cells are being destroyed. Researchers are hopeful that future Type 1 sufferers will benefit from gene therapy, enough to gain some mobility and live into adulthood.
At the forefront is Dr. Brian Kaspar, who directs the Center for Gene Therapy within Nationwide Children's Hospital. He said that SMA differs from other genetic diseases because an exact glitch, "a silver bullet," has been identified.
"We're marching forward to human clinical trials, based on the success of mouse studies," Kaspar said.
The mice in question had the animal equivalent of SMA Type 1, but Kaspar said his treatment increased their lifespan from two weeks to 400 days. If gene therapy overcomes the "blood-brain barrier" in humans, as Kaspar predicts it will, his next step will be lobbying for immediate SMA screenings.
"There needs to be an impetus for newborn screenings. The earlier the treatment can start, the likelier a better therapeutic outcome," he said.
Dr. John Porter, a program director with the National Institutes of Health, said the research team led by Kaspar is sharing a federal stimulus grant with another team focusing on ALS, better known as Lou Gehrig's disease.
Referring to SMA, Kaspar said, "Children are unspoken individuals with this disease. It doesn't get the same limelight because they don't have the opportunity to infiltrate movies and the business world."
Getty's father holds out hope that she will thrive and live long enough to raise public awareness about SMA.
"How many people heard of ALS before Lou Gehrig? There's no high-profile case of SMA that I can think of, so we fly under the radar, unfortunately," he said.