Tag Archives: Retinitis Pigmentosa
Help us fight back against the darkness and find a cure for Usher Syndrome.
Today we learned about the first person in the US treated for a degenerative retinal disease using an FDA approved gene therapy. Jack, a thirteen year old boy who is in the video below has a retinal disease which is caused by a mutation of the gene RPE65. Jack’s condition was treated on Tuesday and […]
This past weekend I spent a good portion of the day at a visions seminar hosted by the Foundation Fighting Blindness. It was not until I received a text from Beth that I realized that exactly one year prior was when we found out that Rebecca would eventually go blind. Before that day I would not […]
Beth and I have been reading a book titled, “No Barriers” authored by Erik Weihenmayer. Erik is an adventurer who is telling his story about kayaking the Grand Canyon and also discusses his adventures of hiking Mt. Everest. He is also vice president of the board of the not for profit, No barriers USA, which began […]
This Thursday we head to the 9th Annual USH connections conference in Chicago. It will be the largest Usher Syndrome related event we have been to. Along with 200+ other people, both families and individuals affected in some way by Usher Syndrome. We will be travelling with mixed emotions, on one hand we […]
My experience as a parent of a disabled child.
Rebecca is doing her part to help find a cure. The Foundation Fighting Blindness reached out to us to ask if they could use her story and her pictures in their latest campaign to raise funds to help find a cure. We were of course happy to help and love the way the email campaign […]
When you take a look at the clinical trial space its difficult not to see the major flaw with studies that target diseases that are considered rare. The big problem is patient enrollment and retention. Patients with rare diseases are, well rare… There are a number of efforts that help with the recruitment and […]
I was driving home from the office the other day thinking of the day we found out that Rebecca would lose her vision and how hopeless we felt during those first few weeks. We were hoping for a cure but mostly we were preparing for her to lose her vision. When we started the blog […]
Of course I would love to say emphatically YES, but there are still challenges and obstacles in the way. With that said however we are closer than ever, the advances in finding a cure to inherited retinal diseases has grown exponentially in the past 5-10 years. We recently attended a presentation at the Carroll Center […]