When Patricia and Jason Brescia welcomed their first child, Jason Michael Brescia Jr., in December 2022, they could not have imagined how quickly joy would turn to heartbreak. Born prematurely at 27 weeks, Jason Michael Jr. spent 54 days in intensive care before being diagnosed with Infantile Liver Failure Syndrome type 1 (ILFS-1), a rare and newly identified genetic disorder that causes acute liver failure. He passed away at just a few weeks old.
To honor his short life, the Brescias, along with Patricia鈥檚 aunt, Catherine Donnelly, established the , a nonprofit dedicated to advancing research, improving early diagnosis, and increasing awareness of ILFS-1. In support of that mission, the foundation recently donated $250,000 to 黑料吃瓜资源 (CSHL) to fund research into ILFS-1.
鈥淎lmost as soon as our son was diagnosed, we knew we wanted to turn our grief into action,鈥� said Jason Brescia. 鈥淥ur goal was to raise awareness, help find a cure, and build a legacy for Jason Michael Jr.鈥�
鈥淲e鈥檙e ecstatic that CSHL has taken on this work,鈥� said Patricia Brescia. 鈥淭his research won鈥檛 just help our family. It has the potential to help many others who may never receive answers otherwise.鈥�
The funding will support CSHL Professors Alea Mills and Dick McCombie, who explained that genetics research on ILFS-1 can help scientists better understand a range of rare disorders and other more common conditions. 鈥淲hile some people may think that studying a rare disease such as ILFS-1, which only affects a few kids, might not help many people, this kind of research often leads to profound biological insight that impacts many more people worldwide,鈥� says Mills.
鈥淭his funding will be put directly to work at CSHL, where the expertise and track record to solve complex diseases already exist,鈥� says Donnelly. 鈥淚 have no doubt they will find answers for ILFS-1 while advancing discoveries that could impact other diseases and, ultimately, many lives.鈥�
In January, Patricia and Jason Brescia, Catherine Donnelly, and other relatives visited CSHL to present the $250,000 donation and tour one of the labs where ILFS-1 research will be conducted. Also on hand was family friend Ed Travaglianti, Jr., a member of the CSHL Corporate Advisory Board.
For the Brescias, funding research at CSHL ensures that Jason Michael Jr.鈥檚 short life continues to have meaning, not just for their family but for others like them.
鈥淚f we can help doctors recognize what鈥檚 happening when a baby isn鈥檛 thriving and give families answers we didn鈥檛 have, then our son鈥檚 life and his fight will have made a difference,鈥� says Patricia Brescia.
Written by: Gina DiPietro, Senior Public Relations Specialist | [email protected] | 516-367-6826