I was 16 years old when I was diagnosed with NF1, following a series of doctor appointments over the course of four years because of chronic headaches. My father was diagnosed before I was born and now I was being diagnosed with it.
By Salvatore La Rosa
On Feb 29, 2008, EURORDIS, a European rare disease organization, sponsored the first Rare Disease Day in Europe. Then the United States joined the first global observance the following year, along with 23 other countries. This year I was invited to participate at the Rare Disease Day at the National Institutes of Health (NIH), an event that aims to bring together “Patients and Researchers – Partners for Life,” as their slogan has always been.
Eli was diagnosed with an eye condition called PHPV as an infant, which resulted in a detached retina at 12 months of age. Later, at age 5, he was diagnosed with NF2.