In 2008, Sandra Bedrosian Sermone gave birth to twin boys, Tony and Rocco. Early on, Tony was in and out of the hospital for four years with no diagnosis as he lost the ability to swallow, walk and talk.
At 4, he was diagnosed with a number of conditions including level 3 autism, nonverbal communication, seizures and brain degeneration.
Yet those diagnoses only led to more questions.
Determined and filled with a drive for answers, Sermone advocated for Tony and pushed for hundreds of lab and diagnostic tests.
In 2014, Tony was diagnosed with a genetic mutation on a brain gene called the activity dependent neuroprotective protein, also known as ADNP syndrome. At the time, he was the first patient ever diagnosed in the United States and only the 11th worldwide, according to Sermone.
You Can Help
For more information about ADNP Kids Research Foundation and how to donate, visit adnpfoundation.org.
Sermone’s efforts on behalf of her son and others with ADNP syndrome were recognized last week when Gov. Jay Inslee presented the Battle Ground woman with the 2022 Gold Presidential Volunteer Service Award to honor her commitment and volunteer service work as the founder of ADNP Kids Research Foundation.
“Every rare disease has one of me — that mom who just dove into the big, black rabbit hole of research. Didn’t want to, but had to because no one else was doing it,” Sermone said.
In 2022 alone, Sermone logged over 1,000 volunteer hours, according to a press release.
“What an amazing achievement,” Inslee said in a virtual ceremony announcing the award. “This would be amazing for Albert Einstein and the FDA and the CDC put together. But for her to do this, this individual act of leadership, to me is astounding.”
Though Sermone received the 2022 Gold Presidential Volunteer Service Award, she said her work at the foundation has been a joint effort of hundreds of other families.
“I haven’t done this alone,” Sermone said. “I wish all the families who have helped me could receive this award”
ADNP syndrome is a neurodevelopmental disorder that affects the brain and other functions of the body. The disease 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.
The disease can also cause behavior disorders such as autism and sensory processing disorder, according to ADNP Kids Research Foundation.
Sermone founded the ADNP Kids Research Foundation in 2016 and has since connected with around 450 families, ultimately hoping to find a cure for ADNP syndrome. The foundation, volunteer run by parents of children with ADNP syndrome, aims to advance research and raise awareness about the rare disease.
The foundation has worked with the Seaver Autism Center at Mount Sinai to complete the first clinical trial for ADNP syndrome, testing low-dose ketamine as a potential treatment, according to Sermone.
So far, the trial looks promising. Though treatment is a great first step, Sermone is hopeful that a cure for ADNP syndrome is not far behind.
“It’s quite daunting and quite exciting at the same time,” Sermone said. “We could possibly in the next three or four years have a cure.”
Despite the progress being made, there is still much research to be done, and the ADNP Kids Research Foundation is raising money to make that happen.
“This is life-changing, historic science and we need to raise 3 million more dollars,” Sermone said.
