Celebrate Rare Disease Day 2021 with Us!

St. Joseph’s Health Foundation is proud to celebrate Rare Disease Day and all of the hard work done here to provide advanced, holistic, family-centered care to patients with rare diseases. The field of genetics has emerged as one of the most promising and exciting frontiers in medicine. Thanks to the forward-thinking and generous support of The Alfiero and Lucia Palestroni, St. Joseph’s provides world-class services to our region at Our World: The Alfiero & Lucia Palestroni Center for Genetic Conditions, so children do not have to leave New Jersey to access the care they need.

Geneticists—physicians that specialize in genetics—are relatively rare and St. Joseph’s is fortunate to have Punita Gupta, MD, as our full-time geneticist and Chief of Genetics. Dr. Gupta is highly regarded in the field and has a demonstrated track record of helping patients overcome diagnoses that were previously thought to be terminal. One inspiring example is the story of Sofia, a little girl from Paterson with Infantile Onset Pompe Disease, a rare heritable disorder. Dr. Gupta diagnosed Sofia in utero, an amazing accomplishment given that there is typically a delay in diagnosis of four or five months, and without treatment, death usually occurs in children by just two years of age.

A key activity of The Alfiero & Lucia Palestroni Center for Genetic Conditions is building the field of genetics, sharing best practices, and raising awareness among medical practitioners and the community alike. Thanks to The Palestroni Foundation’s past funding, we have been able to offer yearly educational symposiums, which have attracted national and international speakers, and medical practitioner attendees from around the state and beyond New Jersey.

Similarly, we host an annual “Rare Disease Day,” during which St. Joseph’s patients and families come together to share their journeys, along with interactive games and prizes for the children in attendance. The educational component of the day is open to the entire staff of St. Joseph’s Health. Patients deliver testimonials describing the unique journey from diagnosis to treatment, emphasizing how patience and persistence could change—at times, dramatically—the outcome for otherwise previously undiagnosed and fatal conditions. This year, we had to bring Rare Disease Day to a virtual platform due to the pandemic; however, that did not stop St. Joseph’s from highlighting a few of our resilient patients!

Join us in watching the virtual Rare Disease Day 2021 celebration!