Nadine&Vivian are going BLIND

My daughters, Nadine (age 5) and Vivian (age 3), have a genetic disorder called Leber's congenital amaurosis (“LCA”). LCA is a rare eye disease that causes severe vision loss from near birth. There are at least 19 gene mutations known to cause LCA, and Nadine and Vivian have a mutation in one of those genes, namely, the gene called CRB1. As patients with LCA get older, this already severe vision loss will only continue to worsen, and without treatment, many doctors believe that Nadine and Vivian will be completely blind within the next 5 to 10 years.


As we face this stark reality, my family, and the countless other families affected by this disease, hold on to the hope that got us this far, and the outstanding scientists who continue searching for a cure. Now, as we continue taking strides towards making a cure become reality, our hope and faith in this expanding field is growing closer and closer.

This has even been done before! In 2017, the FDA passed a prescription gene therapy treatment called Luxturna for another gene mutation (RPE65)—also causing LCA—that restored the eyesight of many children going blind. Now, this is our goal for Nadine and Vivian. What’s more, gene editing technique known as CRISPR is also being used to cure another genetic mutation (CEP290) that also causes LCA, which was recently approved and is already in clinical trials here in the United States! This is all to say that we have great hope that a cure for CRB1, the mutation my little girls have, is just around the corner.


We, the Curing Retinal Blindness Foundation, are putting this into action by funding research to cure LCA caused be mutations in the CRB1 gene!


Specifically, we are hoping to raise $80,000 in 2021! Research scientist Peter M.J. Quinn, Ph.D., is developing a CRISPR-based precision gene editing technique that could help save Nadine and Vivian’s eyesight as well as others impacted by this rare disease. Dr. Quinn is a Postdoctoral Research Fellow in the Department of Ophthalmology at Columbia University Irving Medical Center. Dr. Quinn studies retinal degenerative diseases, including LCA and Retinitis Pigmentosa, in addition to gene editing and gene augmentation strategies that could greatly improve the sight of people afflicted by LCA. Furthermore, Dr. Quinn is an expert in Stem Cell-Derived Retinal Organoids, which he uses to model LCA caused be mutations in the CRB1 gene and ultimately to test therapies for patients with this disease. Most recently, his work in this field was awarded the B. Dobli Srinivasan Award, a prestigious award acknowledging his innovative and impactful work.


We are so close to curing this disease but we can't do it without funding. Please consider donating to the CURING RETINAL BLINDNESS FOUNDATION to help fund the only chance of saving Nadine and Vivian’s eyesight. Any amount you can donate will be appreciated and ultimately go a long way. Thank you <3 

Check us out on Love What Matters. More about our story here: https://www.lovewhatmatters.com/her-eyes-were-going-back-and-forth-horizontally-uncontrollably-how-do-i-tell-everyone-who-loves-them-this-blind-visually-impaired-special-needs-mom/