Nicole Kear: When Losing Vision, Carpe Diem?
Nicole Kear faked it for a long time. On a romantic getaway, as her boyfriend gazed at the starlit sky, she gazed at the vast darkness. Same with the twinkling lights at the tip of New York’s [...]
A Rare Opportunity: A Glimpse Into Life with Visual Impairment
“Look like you can see!” Dante Priebe implores to his panicked, visually impaired sister Sofia as she struggles behind the wheel to make a three-point turn in her driveway. “I do this horrible, [...]
Connecticut Rare Disease Day at the Capitol
Sixth-grader Daniela Delgado told Connecticut lawmakers on Rare Disease Day that she lives with rare disease just like 30 million other people in the United States – and just like them – she [...]
Connecticut Rare Disease Day February 28
Members of Connecticut’s General Assembly (CGA) will hear from myriad people and organizations, including Sofia Sees Hope, about patient advocacy and access to treatment during a legislative [...]
Living with LCA: ‘Know It’s Not Something You’re Going to Conquer in One Day’
The best of both worlds – that’s how Ashlyn Lincoln describes life with her two sons: 4-year-old Gunner, who was born without vision, and 7-year-old Ace, who is sighted. “Both Ace and Gunner [...]
The Role of the Patient Voice in Rare Disease Advocacy
It’s you. It’s all about you. The journey from identifying a rare disease, to conducting studies, to approving a treatment, is long – but it always starts with the patient, and the information [...]
After Treatment with LUXTURNA, It’s a New Year, New Vision
Two little girls – one on the East Coast and one on the West Coast – ring in this New Year with something they’ve never had before – their vision. Eight-year-old Hannah Reif of Maple Glen, PA, [...]
Natural History Studies Vital to Finding Treatments for Rare Diseases
The lack of information on rare diseases can create difficulty in developing drugs to treat them. To help, it is important to study the natural history of rare diseases. Compared with common [...]
Living with LCA: ‘It does no good to have pity’
Mikayla Larson, a 30-year-old mother living with a rare inherited retinal disease (IRD) called Leber congenital amaurosis (LCA) wants to reassure children living with the same disease that [...]
The Road to Treatment: Understanding How Therapies Are Developed
Successful clinical drug trials are a cornerstone of U.S. Food and Drug Administration approval, such as with LUXTURNA™, a ground-breaking genetic therapy that helps restore vision in Leber [...]