When former Malverne resident Jason Brescia and his wife, Patricia, found out that she was pregnant with their first child, they were ecstatic. In 2022 they announced the pregnancy during a trip to Disney and learned they were having a boy during a gender reveal party.
Their son, Jason Michael Brescia Jr., was expected to be born in 2023, but arrived early on Christmas Eve in 2022 via an emergency abdominal delivery at 27 weeks into the pregnancy.
Following various setbacks unrelated to his premature birth and after in-depth genetic testing, the baby was diagnosed with a rare autosomal recessive disorder known as infantile liver failure syndrome, or ILFS-1.
“He was struggling with certain things that normal premature babies wouldn’t struggle with,” Jason Brescia, 39, said. “He was given a good prognosis, and then time went by and things got worse.”
The staff at NYU Langone Hospital-Long Island supported the Brescia family while their son was in the neonatal intensive care unit, helping them to secure a grant to afford the testing that revealed the ILFS-1 diagnosis.
The newborn fought through ILFS-1 symptoms, including edema, kidney failure and irreversible organ damage.
“The doctors told us that there was no existing treatment and essentially his liver was never going to function properly,” Jason Brescia said.
After eight weeks, the infant died from the condition on Feb. 17, 2023.
ILFS-1 is incredibly rare, prevalent in less than one in a million people, according to a 2012 journal of the Society for Inherited Metabolic Disorders. Typically diagnosed in early infancy, the disorder has a high mortality rate.
His parents created the Jason Michael Brescia Foundation, a 501(C)(3) nonprofit, to honor their son’s memory. “We never wanted to stop fighting,” the father said, “because he fought so hard.”
The Brescias have received financial support from family and friends, and the foundation recently donated $250,000 to Cold Spring Harbor Laboratory to support research into ILFS-1.
“While some people may think that studying a rare disease such as ILFS-1, which only affects a few kids, might not help very many people, it should be noted that this kind of research often leads to profound biological insight that impacts many more people worldwide,” Alea Mills, a professor at Cold Spring Harbor, said.
Mills explained that the genetic research being conducted for ILFS-1 can help scientists better understand a range of rare disorders and other more common conditions.
The primary donor supporting the foundation was Patricia Brescia’s aunt, Catherine Donnelly.
“When Jason Jr. was in the hospital, Jason and Patty stayed with me in Garden City because I lived close to NYU Langone,” Donnelly said in a recent email to the Herald. “I witnessed every moment of what they were going through, and I knew the most meaningful thing I could do was help ensure no other family endures that pain. Supporting the brilliant scientists and doctors searching for a cure is my way of honoring Jason’s memory and helping build a future where this never happens again.”
Patricia Brescia, 38, shared that while she was pregnant with Jason Jr., she was tested for genetic diseases but ILFS-1 was not included in the testing. She would like to see ILFS-1 and other rare diseases included in future testing.
“This isn’t just about one rare disorder, this one disease,” Jason Brescia said. “It’s about all these rare diseases, creating more access to information, making testing more readily available to everyone, and advocating for all rare diseases to have the same type of funding.”
The Brescias have created a memorial scholarship at Kellenberg Memorial High School, which Jason attended, to support students who plan to study science or medicine.
“It’ll be amazing to one day rest our heads at night knowing that no child will pass away (the way) Jason passed,” Jason Brescia said.
In July, Patricia gave birth to another boy, Sebastian, a carrier of ILFS-1, but his parents shared that he is perfectly healthy. “Hopefully, he’ll fight his brother’s fight, too,” Jason Brescia said.
“If I could just never let another mother feel how I felt,” Patricia Brescia said. “Only holding your child two or three times in their whole life — one of them being when they passed away — to give a family that opportunity would be healing.
“It gives Jason a legacy,” she added.
To support the Brescia family and to make a donation, visit www.bresciafoundation.org.
