Touched by Angelman’s
La Jolla family aims to be part of solution for rare disorderWhen Lisa Franco’s daughter was 7 months old, the first-time mom knew something wasn’t right. Despite reassurances from their pediatrician, she and her husband, Luis Franco, knew there was a reason Samantha still wasn’t rolling over or sitting up.
“She wasn’t hitting any of her milestones,” Lisa Franco said. “It became impossible not to compare her (to other children).”
They changed doctors, and Samantha’s neurologist ordered an electroencephalogram (EEG). While they were waiting for the results, Lisa Franco, a cellular biologist with a pharmaceutical company, attended a professional conference in Santa Fe, N.M. Distracted by the separation from her daughter and anxious over the pending medical tests, she had trouble focusing her attention until a large photo appeared on the projection screen during a keynote speech. The beautiful young boy with a huge smile on his face was one of the patients the speaker was discussing — patients with a defective or missing UBE3A gene, patients with Angelman syndrome.
“I saw something strangely familiar in the boy’s eyes — he looked just like Samantha,” Lisa Franco later wrote in an article about realizing her daughter had Angelman syndrome (AS).
Five weeks later, the diagnosis was confirmed by Samantha’s neurologist. Lisa and Luis Franco suddenly faced a very uncertain future with a child who would need lifelong care.
“It was devastating,” Lisa Franco said. “It was truly devastating. What was out there (on the Internet) ... scared the daylights out of me because everything seemed so severe.”
That was then, this is nowToday, Samantha is a happy, outgoing, active 10-year-old. She lives in La Jolla with her parents and her 8-year-old brother, Ethan. She has two best friends. She attended Bird Rock Elementary School until the third grade, when she transferred to the Children’s Workshop at The Institute for Effective Education in Mission Valley.
“Samantha is a very sweet and loving child,” Lisa Franco said. “She lights up the room. She has a beautiful smile and loves to meet people.”
But it has taken a long time for the Franco family to learn how to live with AS.
According to the Angelman Syndrome Foundation (ASF), the neuro-genetic disorder, which occurs in 1 in 15,000 live births, is characterized by “developmental delays, lack of speech, seizures, and walking and balance disorders.”
Although chronologically age 10, Lisa Franco said Samantha functions at the age of a much younger child. She is awkward and clumsy and falls easily, which has resulted in visits to the emergency room for a broken nose, stitches and knocked out teeth. The only word Samantha says is “momma.”
“She requires constant supervision,” Lisa Franco said. “As soon as you step outside the house, she’s never more than an arm’s length away from any of us.”
One of the most difficult aspects of the disease for Lisa Franco is her daughter’s inability to speak. “We understand her wants and her needs, but I would love the day that she could actually articulate a really personal feeling,” Lisa Franco said. “She’s not able to do that.”
Preparing for the futureLike all parents, Lisa and Luis Franco worry what the future holds for Samantha. Having come to terms with the realities of raising a child with AS, the couple bought a home in Pacific Beach with the intent of establishing a handicap-accessible group home.
“We want Samantha close, and maybe one day she can live in her own home with female roommates and an onsite supervisor,” Lisa Franco said.
Shortly after Samantha’s diagnosis, the Francos became active in the Angelman Syndrome Foundation.
“My first piece of advice I give every family ... is join your support group,” Lisa Franco said, adding that she is personally in touch with about two dozen local families but suspects there are more. “Having a foundation is your touch point. It puts you in touch with people who are dealing with very similar issues you’re going to have to deal with.”
Last year, the ASF formed the Angelman Treatment and Research Institute (ATRI) to centralize research efforts and maximize funding opportunities. Lisa Franco serves as a member of the ASF Scientific Advisory Committee and is co-chair of the foundation’s scientific symposium. In 2009, the organization funded $1 million in research. Since 2005, it has provided more than 50 grants, totaling $2.2 million.
“This just gives us more flexibility in going after certain funding avenues that we didn’t have before,” Lisa Franco said.
One thing drives Lisa Franco to continue working diligently to raise awareness of AS and enable researchers to look for answers: “The day that there is some kind of treatment or therapy that would allow Samantha to communicate would be the happiest day of my life.”
Angelman Syndrome Foundation
- (630) 978-4245