Family Stories

Rare disease patients, caregivers, advocates, researchers, doctors, healthcare providers and lawmakers gathered at Connecticut’s capitol in Hartford on Friday, Feb. 28, to celebrate Rare Disease [...]

  The end of February signals the time to focus awareness on rare conditions by celebrating Rare Disease Day, a global event addressing the thousands of rare diseases that affect one in [...]

By Damiana Harper I was born in 1976 in Spokane, Washington. By the time I was born, my parents’ relationship was basically over, so I was raised by a single mom. It was clear from a very young [...]

  When our daughter Sofia was 2, we knew something was wrong with her vision. By the time she was 5, doctors told us she perhaps had Leber congenital amaurosis, and the prognosis was grim: [...]

Clinical trials are never done in a vacuum, or in a medieval basement where Dr. Frederick Frankenstein (pronounced Fronkensteen), his pretty lab assistant, Inga, and faithful houseboy, Igor, [...]

Theodor Karl Gustav von Leber would be proud. So would Adolphe Franceschetti and Carl-Henry Alström.  Their research from the 19th and 20th centuries laid the foundation for groundbreaking gene [...]

Tell your story. Tell your story again. Then tell it again.   That’s the beginning of advocacy for rare disease.  “You have to be assertive and speak up. You don’t have time to waste!” advocate [...]

Kristen Steele knows a thing or two about telling her story and getting what she needs to be her best. The 22-year-old from Council Bluffs, Iowa, is a licensed massage therapist in Iowa and [...]

Known as a pioneer in gene therapy, Jean Bennett, MD, PhD, surveyed her audience of patients and families living with Leber congenital amaurosis and declared: “YOU are all the pioneers!” Dr. [...]

Advances in genetic sequencing boosted research into rare inherited retinal diseases (IRDs), making a tremendous impact on the number of clinical trials underway for genetic treatments. “There [...]