Gene mutation didn’t slow down high school senior
Senior year is usually a busy time, but it was perhaps especially so for Lilly Grossman.
She was elected La Jolla High’s homecoming queen, worked as features page editor of the school newspaper and published a novel with a friend — her second, featuring an alter ego character navigating friendships during senior year. During spring break, she toured London and Paris.
And she did it in spite of a mysterious ailment that makes it extremely difficult for her to walk, talk and eat, disturbs her sleep and generally makes it tough for her just to be a kid.
A few years ago, her parents told The Times last year, it wasn’t clear that Lilly, now 18, would live long enough to graduate and look ahead to college.
Disabled since birth, she is plagued by debilitating muscle weakness and other health problems. It was only in 2011, when Lilly was accepted to participate in a DNA study at the Scripps Translational Science Institute in La Jolla, that Steve and Gay Grossman got a glimpse into why.
Scientists who sequenced Lilly’s genome — the 3 billion DNA base pairs that make up her entire genetic blueprint — found that she had suspicious mutations in two genes. One, the gene called ADCY5, previously had been associated with similar movement disorders in another family.
Knowing the likely root cause of Lilly’s condition didn’t lead to a cure. The Grossmans and their neurologist, Dr. Jennifer Friedman at Rady Children’s Hospital in San Diego, still had to take a trial-and-error approach, switching from drug to drug and from dosage to dosage to control her symptoms.
But the news did provide some peace of mind. Knowing that Lilly wasn’t likely to die suddenly because of her illness, the family felt more able to plan for the future.
By January 2014, Lilly was on the homecoming court as a junior and had written a self-published novel about a student — named Lilly— who awakens one morning miraculously cured of a disability. Later in the year she earned the Girl Scout Gold Award and got to visit the White House when a video she made was honored along with other student films.
Lilly started researching colleges. Whittier College, the small liberal arts school, and UC Berkeley, which offered a program for students with disabilities, were at the top of her list.
“We wanted her to apply to schools in San Diego, but she didn’t want to go to those,” Gay said.
The excitement and stress of waiting on admissions letters wore on Lilly. She got an acceptance from Whittier but waited and waited to hear from Berkeley.
“That was an extremely stressful period,” her mother said.
Lilly began to suffer setbacks. By last January, her shaking had returned. But thanks to a new drug treatment, she made it to London, where she bought her prom dress. As she rode through the Chunnel to Paris, she penned another essay for the admissions staff at Berkeley.
Shortly afterward, she had an epiphany.
“She texted me and said, ‘If they’re waiting so long, they don’t really want me. Whittier wants me, and I’ll be a rock star there,’” Gay recalled.
Lilly will arrive on campus in September. She plans to live in a freshman dormitory and major in English, with an emphasis on creative writing. Even if her current drug regimen continues to work, she will need aides to help her in the dorm and in class — around the clock at first, but less as time goes on, she hopes.
Researchers have made progress understanding ADCY5 mutations.
In the months since the Scripps scientists pinpointed the cause of Lilly’s condition, physicians have diagnosed and reported at least 60 other cases of the same disorder, said Friedman, who has been working to educate other neurologists.
“I didn’t expect there would be that many patients with the same condition,” she said. Many have reached out to the Grossmans, who have been mentoring other families online and in person.
Gay said she never expected the genome test to create a community.
“I thought we would find the mutation and individually find a company to work with us” to find a treatment, she said. “But it’s working out better. People show up with a 2-year-old and see the success that Lilly has had, and it gives them a lot of hope.”
The Grossmans are recruiting families to participate in a new registry, housed at the Manton Center for Orphan Disease Research at Boston Children’s Hospital, that will collect patient data and specimens to help researchers study ADCY5 and seek effective treatments. The family is also working with the nonprofit Rare Science, which seeks therapies for rare diseases.
Scripps researchers are continuing to sequence genomes of patients with unknown illnesses, representatives of the La Jolla institute said.
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