A Brush Prairie woman has received national recognition for research she conducted on behalf of her son who has ADNP syndrome, a rare genetic condition estimated to be one of the leading single gene causes of autism.
On Dec. 8, 18th District Rep. Stephanie McClintock, R-Vancouver, presented rare disease advocate Sandra Sermone with a House resolution for her efforts in leading the research for activity dependent neuroprotective protein, or ADNP.
“I extend my deepest gratitude to Rep. McClintock and the members of the House who voted for this incredible recognition and am thankful for the awareness this brings to ADNP syndrome, which is a devastating and degenerative brain disease,” she said.
Sermone previously received the 2022 Gold Presidential Service Award, which was presented to her by Gov. Jay Inslee.
“What an amazing achievement,” Inslee said at the 2022 virtual award ceremony. “This would be amazing for Albert Einstein and the FDA and the CDC put together. But for her to do this individual act of leadership, to me is astounding.”
Finding answers
For Sermone, this work hits close to home. In 2008, she gave birth to twin boys, Tony and Rocco. Tony was hospitalized on and off for years without any clear diagnosis.
“When he was first born, they started doing brain scans and seeing that he had all these brain abnormalities, and as he developed, he just kept getting worse,” Sermone said.
Genetic testing went on for years. When Tony was 4, doctors diagnosed him with multiple conditions including level 3 autism, seizures and brain degeneration. But Sermone still had more questions, so she set out to find her own answers.
“I started doing my own research. I used to call myself a Google-educated scientist,” Sermone said. “Everyone calls me Erin Brockovich.”
Over the years, Sermone conducted her own research, pushed for labs and diagnostic tests and reached out to scientists at universities all over the country.
In 2014, Sermone was finally able to get her son into a program at Duke University where they used exome sequencing on him, a type of test used to understand what may be causing symptoms or a disease.
Within months, her family received an answer: Tony had a genetic mutation on a brain gene called the activity dependent neuroprotective protein, or ADNP syndrome. It can affect muscle tone, growth, hearing, vision, sleep, motor skills, immune system and other bodily functions, according to the Genetic and Rare Diseases Information Center.
According to Sermone, he was the first U.S. patient to receive the diagnosis and the 11th worldwide. But her efforts didn’t stop at the diagnosis.
In 2016, she went on to create the ADNP Kids Research Foundation, hoping to share her son’s story and connect with hundreds of families across the world who were also searching for answers. Since then, it has raised more than $2 million toward research. While she’s honored to be recognized for her work, Sermone said she couldn’t have done it without the joint efforts of hundreds of families she’s met through her foundation.
“Back then, there was nothing if you Googled ADNP. There were no parent groups, support groups or advocacy groups,” Sermone said. “So the moment anyone got a diagnosis and typed in ADNP, they found me. It was a really rare, unique situation to be in.”
The foundation is now working with Seaver Autism Center at Mount Sinai in New York City to complete the first clinical trial for ADNP syndrome, using low-dose ketamine as a potential treatment.
The trial is still in its early stages, but Sermone said she hopes it can be a first step in potentially finding a cure for ADNP.
Sermone is now advocating for two bills in the state Legislature: HB 1079 and SB 5097. The first would expand access to rapid whole genome sequencing for Medicaid patients and the second would allow Washington to form an advisory council on rare diseases.
“Just getting diagnosed is a fight. Just getting treatments that are appropriate is a fight,” Sermone said. “So any awareness we get helps.”
