It’s an all too familiar story in the rare disease world. One that starts with mysterious symptoms and a medical odyssey, only to end with a devastating diagnosis. Only in this case, there was not one, but six diagnoses. All in one family.
When Frani, Patrick, and Vinnie’s mother, Marian, was in her mid-thirties, she began displaying symptoms of what has now been diagnosed as ALD. Her initial symptoms, which remained mild for many years, included loss of balance and numbness in her legs and feet. But as the years went on, her symptoms slowly worsened, and eventually, when Marian was in her late forties, she needed the use of a cane. She consulted specialists throughout the country, but her symptoms baffled doctors. It was only when her son Patrick, then in his mid-twenties began exhibiting similar, but faster-progressing symptoms, did doctors suggest a possible genetic disorder - hereditary spastic paraplegia. But it was only a possibility. And the wrong one.
It was not until 2018, nearly twenty years after Marian’s initial symptoms, that the diagnostic odyssey came to an end. While on vacation at a cocktail party in Arizona, a knowledgeable doctor noticed Marian’s walker, gait, and a slight quiver in her voice (a distinct symptom of ALD in women). After casual conversation and learning that her symptoms were undiagnosed, he suggested adrenoleukodystrophy as a possible explanation. Upon her return home to Texas, Marian requested that her neurologist test both her and Patrick for ALD. The results were positive for both.
Following her mother and brother Patrick’s diagnoses, Frani received positive confirmation of having ALD. A few weeks later, she received positive confirmations for her then two-year-old son Oliver and four-year-old daughter Giorgiana. Vinnie waited a few months to be tested, and his test came back positive as well.
OF THEIR OWN
Although devastated, our family rallied together and within a year, started our own charity, Arrivederci ALD. Arrivederci means “goodbye” in Italian— a nod to our family’s Italian heritage. Having our own organization, as opposed to fundraising for one institution, allows for the flexibility to distribute funds to various researchers, labs, and institutions, as well as to one day, identifying and funding promising new investigators and researchers.
Since our inception in 2019, Arrivederci ALD has raised over $300,000, which we’ve distributed to physician-scientists at Massachusetts General Hospital’s Leukodystrophy Center and the Lucile Packard Children’s Hospital ALD fund.
AALD BOARD OF DIRECTORS