Sandwich Community Supports Girl with Rare Genetic Syndrome

David, Kerri and Bridget Ames, of Sandwich, were presented with a proclamation for PACS1 Day in Massachusetts Wednesday.

SANDWICH – The Community came together Wednesday night in Sandwich to support a child who has been living with a rare genetic syndrome.

Bridget Ames is 9 years old and one of only 70 children in the world diagnosed with PACS1.

The syndrome, which was discovered in 2012, is characterized by intellectual disability, developmental delay and mildly distinctive facial features, according to the National Institutes of Health. Individuals with the syndrome may also have seizures, difficulty eating and gaining weight, and autism.

The genetic syndrome is caused by a spontaneous mutation or the egg or sperm.

Governor Baker declared Wednesday PACS1 Day in the state and State Rep Randy Hunt presented the proclamation to Bridget during a special ceremony.

Her mother Kerri Ames was overwhelmed by the support.

“Our doctor from Boston came, our Spaulding team, our education team – and that is what made this all happen,” Kerri said. “Without access to all of these wonderful opportunities for Bridget she really wouldn’t be the child she is today.”

Bridget was not diagnosed with the disorder until she was five years old. She saw several doctors as an infant for issues including vomiting, a soft trachea and cardiac arrhythmia, but they could figure out what the problem was.

“They told us she would not rollover, walk, talk or do anything,” Kerri said.

The Ames family was put in touch with Dr. April Levin from Children’s Hospital.

“Dr. April Levin has been our rock the entire journey,” she said. “Everytime I was questioning or wanting to get frustrated she said ‘No. This is what Bridget needs.’”

Bridget has been a patient at Spaulding Eileen M. Ward Outpatient Center for Children in Forestdale for more than eight years.

The Ames family is closely following research being conducted on PACS1.

One study is trying to develop the PACS1 gene in mice in efforts to develop a way to suppress the mutation.

“If they can suppress that mutation, they want to see if this will eliminate or minimize the deficits that PACS1 causes,” Kerri said.

Research is also being done to see what PACS1 does.

“It’s a protein. So when it gets released in the body where does it go?” Kerri said. “Why do some kids have seizures but all kids have intellectual disabilities. So that is what the research is looking at right now.”

PACS1 is a syndrome that is spread out over the world.

“There’s one child in Norway. There are two in Australia,” she said. “We know that it goes over all ethnicities. We know it goes on every continent but it’s about trying to pull all this research together.”

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