Beauty speaks: Raising awareness about retinitis pigmentosa
If you were to ask April Lufriu, crowned Mrs. America in 2011 and Mrs. World in 2012, what the secret to her success has been, she wouldn’t hesitate. It is her driving need to raise awareness about the disease that she, her sister, and her children all share—retinitis pigmentosa (RP). Read her story
Eye Want 2 Know: A new genetic testing resource for the inherited retinal disease (IRD) community
Whenever we uncover an unmet need in the IRD community, we roll up our sleeves and get to work. Introducing Eye Want 2 Know, a deep dive into the importance of genetic testing and the resources that will help you get started. Read on
Stargardt’s designer duo: Bradford and Bryan Manning
Sometimes it takes a village to give birth to a dream. Of course, a celebrity endorsement never hurts, either. Two blind brothers share their vision with the world. Read more
A doctor’s diagnosis: Cone rod dystrophy
“Dr. Bill” Takeshita, renowned Los Angeles optometrist, was intimately familiar with the dramatic way that vision loss and blindness could change a life. He just never thought it would be his own. Read more
Connecting you to low-vision services: Joseph Hall, Sr. and The Chicago Lighthouse
Retinitis pigmentosa may have changed the arc of Joseph Hall’s life, but the Chicago man’s contagious optimism serves him well. Read more
The undeniable case for genetic testing
Tyler Kitchengs and his grandfather were both diagnosed with retinitis pigmentosa as young boys. The difference in their experiences, however, is measured by more than years. Scientific advances in genetic testing and gene therapy research are transforming the diagnostic journey. Read their story
Parenting children who have vision loss
Growing up with a sister who slowly lost her sight to retinitis pigmentosa (RP) could never have prepared April Lufriu, former Mrs. World, for the diagnosis of her own two children. Then, when the retinal specialist asked to examine Lufriu’s eyes, the world slid sideways. Read her story
Commemorating Rare Disease Day 2018
Did you know there are as many as 7,000 rare diseases impacting the lives of ~25–30 million Americans, many of them children? To commemorate Rare Disease Day 2018 and raise awareness of these diseases, we encourage patients to share their stories, build communities, and help advance research for change. Read more
Year in review: The aSharedVision community in 2017
Happy New Year! Before we get too far into 2018, let's look back at 2017 on aSharedVision. We crunched a few numbers to discover: 1) who makes up our community, 2) which stories they are most interested in, and, 3) which inherited retinal diseases (IRDs) they wanted to learn more about. Read on!
Field notes from UCSF retinal specialist and researcher Dr. Jacque Duncan
We reached out to a University of California, San Francisco clinician and researcher to get her take on the quickly evolving research landscape and the growing mandate for genetic testing. Read more
Why I love being a teacher of students with visual impairments (TVI)
Once Victoria Romano experienced the magic of working in the classroom at Philadelphia’s Overbrook School for the Blind, she knew she’d found her calling. Read her story
A deeper dive into gene therapy research
There’s good news for all of you who want to learn more about the science behind genetic disease and gene therapy research. Our expanded information and new videos provide a deeper understanding of genes, chromosomes, and DNA. Read more
Stargardt disease: Josh Bennett’s “race of truth”
You might not consider time trial cycling to be the right option for a legally blind man, but you’d be wrong. Josh Bennett illustrates how determination and grit can open even the most unexpected doors. Read more
Why I got genetically tested
Genetic testing gave Theresa Taylor the information she needed about her Leber congenital amaurosis, and inspired an advocacy trip to Capitol Hill. Read more
Understanding how genes, DNA and proteins lead to inherited retinal disease.
While the science of genetics might not actually be rocket science, it’s just as complex. We checked in with a genetic counselor, and asked her to explain how genes, DNA and proteins create the “blueprint of you.” Read more
Here’s the story of Janet LaBreck, who was one of four siblings born with retinitis pigmentosa. Janet rose above tremendous physical and financial limitations to eventually become President Obama’s Commissioner of the Rehabilitation Services Administration. Read her story
My Guide Dog and Me: A Renewed Sense of Independence with Retinitis Pigmentosa
Becky Andrews, diagnosed with retinitis pigmentosa at 18, found a new freedom in life when she decided to partner with a guide dog. Photo courtesy of Guide Dogs for the Blind.Read more
Are you ready for Rare Disease Day 2017?
Approximately 30 million Americans are affected by rare diseases, which is why every year on the last day of February, we celebrate “Rare Disease Day.” Raise your voice to raise awareness! Here’s how
At Spark, we are continually talking to patients and their families to understand the needs of the IRD community. You told us you wanted help with genetic testing, and here’s what happened next. Read story
An IRON[WO]MAN takes on choroideremia.
Throughout her pregnancy, Stephanie, whose father has choroideremia, waited for the other shoe to drop. She was a carrier; would her son also have the disease? When that shoe did drop, she put it on, started running, and hasn’t stopped since. Read more
Solving the mystery of us.
Two moms—one who has retinitis pigmentosa (RP), and one who is raising a daughter with a form of Leber congenital amaurosis (LCA due to mutations in the IQCB1 gene)—talk about the importance of genetic testing. Watch video