Bio
My name is Holly Fulginiti, and I am the wife of Christopher, who has classical homocystinuria (HCU). Christopher was misdiagnosed for 22 years of his life from initial onset of symptoms to eventual diagnosis. Despite having known homocysteine levels on the upward of 500, he remained undiagnosed/misdiagnosed for over 2 decades. After a year of researching my husband's medical records on my own and searching for answers independently, I was convinced he had homocystinuria. After fierce advocacy for answers and further testing, he was finally diagnosed as suspected, Classical Homocystinuria. The changes that we have witnessed from diagnosis to treatment have been so profound, particularly within the realm of psychiatric improvement, that I cannot imagine a life without me advocating and educating for HCU awareness.Â
"Spouse: It's a Family Affair"
What does life look like when Homocystinuria (HCU) becomes a part of your daily family rhythm? In this intimate panel session, Ethan, June, and Holly share their firsthand experiences navigating the complexities of supporting a loved one with HCU. From the initial shock of diagnosis and the steep learning curve of a low-methionine diet to the emotional weight of managing long-term health risks like blood clots and vision changes, this talk offers a window into the reality of the HCU journey.
