Mission Statement
The Anthony Filippazzo Grant for Williams Syndrome Research was established in 2019 by the Williams Syndrome Association (“WSA”) in recognition of our family’s commitment to raising awareness and capital for Williams syndrome research. Moving forward, our fundraising efforts will be donated to the WSA and allocated to the Grant for any current or future research studies for Williams syndrome.
Williams syndrome (“WS”) is a rare genetic condition which is caused by a microdeletion of approximately 26 to 28 genes on chromosome 7. Notably, people with WS are missing one copy of the elastin gene. Elastin is the protein in our body which allows for the free flow of blood throughout our vascular system. Individuals with WS may suffer from systemic vascular disorders, namely stenosis (narrowing) of the arteries as a result of missing 50% of their elastin. Nearly 80% of “those with WS” will have some type of vascular stenosis (most commonly aortic or pulmonary), and 25%-30% of individuals with stenosis will require a minimum of one surgery in their lifetime to address the stenosis. Surgical procedures of any kind pose an enhanced risk to people with WS due to a higher probability of adverse reactions and sudden cardiac death when undergoing anesthesia. The reasons for these adverse reactions are not perfectly understood. Boston Children’s Hospital and Morgan Stanley Children’s Hospital at Columbia University have undertaken comprehensive studies into the history of anesthesia and cardiac related issues in WS. The data gathered thus far has resulted in the implementation of measures in level 1 hospitals which are contributing to life saving techniques for WS patients undergoing anesthesia related procedures.
Research currently underway at the National Institutes of Health is studying elastin related insufficiency disease in unprecedented ways with an emphasis in the Heart, Lung, and Blood institute on cardiovascular health and differences in blood vessel stiffness and heart rate variability in WS. The work they are conducting on cohort mice bred to mimic the WS deletion, could yield life-saving, game changing results for the WS community.
Our 12-year-old son Anthony has Williams syndrome. He has stenosis in his aorta and in his pulmonary artery which prevents the valve from fully opening and which reduces blood flow from his heart and lungs. Anthony also has supraventricular tachycardia (unexpected incidents of rapid heartbeat), due to an abnormal electrical sinus rhythm with his heartbeat which required a surgical cardiac intervention in January 2023. Anthony is followed by a team of doctors at various hospitals for all of his medical care. Individuals with WS require life-long care for their organ systems in order to best manage this disease.
When we received Anthony’s diagnosis, we embarked upon a pursuit to raise awareness and capital for the WSA. Over the years, we have participated in a variety of fundraising events including the 2017, hallmark White Night fundraiser, which raised one million dollars for Williams syndrome research. In 2019, we launched the Grant with the first benefit of this kind and the night was an enormous success. The establishment of the Anthony Filippazzo Grant for Research by the WSA will help to ensure our efforts are working to increase critical research and the number of researchers studying Williams syndrome. Our promise to Anthony is to continue these efforts with the goal of discovering a way to significantly enhance the overall heath, well-being and longevity of individuals with Williams syndrome.
We cannot thank you enough for supporting us on this ever so difficult and critical journey. Camille & Stefano Filippazzo.
The Williams Syndrome Association is a registered 501(c)(3) organization # 22-3305007.
243 Broadway #9188 Newark, New Jersey 07104.
