A mother’s journey to change the medical landscape for son’s rare disease

https://rarerevolutionmagazine.com/a-mothers-journey-to-change-the-medical-landscape-for-sons-rare-disease/ 7q11.23: The deletion that changed the lives of a family and ignited a journey for change. How a Brooklyn, NY family—shattered by their son’s diagnosis—uses their pain for good to change the future for Williams syndrome. The mystery that is Williams syndrome It was a chilly night in October 2011 when the Filippazzo family excitedly rushed to the hospital to welcome their new addition. What was supposed to be one of the happiest moments of their lives went dramatically awry. Within minutes of their son Anthony’s birth, a team of doctors were bedside identifying various medical abnormalities but not knowing their etiology. Hypoglycemia, jaundice, need for a blood diffusion and bilateral hearing impairment, to name a few. By eight weeks old Anthony had pneumonia and respiratory synthetic virus. He had severe colic, had extreme difficulty eating and sleeping and exhibited signs of failure to thrive. By 12 weeks old they discovered abnormalities in his heart and deficits in his gross motor skills. By one, he was entirely non-verbal and not meeting milestones. Despite presenting with a myriad of health and developmental problems, it was two years before his parents discovered a geneticist who suspected the cause of his medical problems. With confirmation from microarray genetic testing, the Filippazzo family learned the news. Their son has Williams syndrome.