Living with LCA: ‘It’s ABCs and 123s’
Blink and you just might miss toddler Jordynn Goodwine rocket past you. A force to be reckoned with when it comes to music and movement, Jordynn is 4 years old and lives with Leber congenital [...]
Shaberman Combines Love of Science, Writing in Sci-Fi Novel Debut
Ben Shaberman – Senior Director of Scientific Outreach & Community Engagement at Foundation Fighting Blindness – combines his skills in science and storytelling to create Retina Boy, a sci-fi [...]
She Made Canadian Medical History When She Received a ‘Bionic Eye’
Orly Shamir made Canadian medical history when she became the first person in the country to receive a bionic eye. In a clinical trial six years ago, Dr. Robert Devenyi and his surgical [...]
Living with LCA: Finding Her ‘Light’ In the Kitchen
A recipe for addiction recovery transformed Orly Shamir’s life, and now it’s about to change her future. Orly, who’s name in Hebrew means “My Light,” lives with LCA4, a form of Leber congenital [...]
Rare Disease Day 2020: Lawmakers Hear From Advocates
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 [...]
Connecticut Rare Disease Day 2020
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 [...]
All About Clinical Trials
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, [...]
Retinal Disease Gene Therapy Breakthroughs Trace Their Roots to 19th Century Research
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 [...]
Rare Disease Advocacy: There’s Power In Numbers
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: You’ve Gotta Fight for Your Right …
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 [...]