My daughter, Olivia, was diagnosed with a rare disease when she was three years old. It took about a year to get the correct diagnosis. She was diagnosed with Hypermelanosis of Ito, only 1 of 100 reported cases in the United States. In March of 2010, Olivia underwent spinal cord surgery to untether her spinal cord. As I sat by her bed I contemplated the many issues facing the rare disease community. It seemed that the rare disease community lacked a strong voice. I decided to form the Rhode Island Rare Disease Foundation to benefit Rhode Islanders living with a rare disease, regardless of disease. Disease specific foundations provide an invaluable resource for families, however, for a considerable amount of diseases no foundation exists. Often, members of disease specific foundations are spread all over the world. The RIRDF will encompass all rare diseases. The diseases may be different, but the challenges faced by the rare disease community remain the same: inaccurate diagnosis, no diagnosis, lack of awareness, insurance and other reimbursement issues, and a terrible sense of isolation.
By connecting locally and encompassing all rare diseases, the RIRDF can build a strong rare disease community in Rhode Island and through out the country.