This is my two-and-a-half-year-old daughter Elin (Ee-Lin). Her favorite color is yellow. She loves ballet and going to her “Kids Morning Out” preschool. She also loves to play with baby dolls, Barbie dolls, Legos, and her five-and-a-half-year-old sister, Nola. Elin knows all the colors, is very passionate about the differences between light pink and “hot pink,” can identify most shapes, and counts all the way to 11. She is smart, articulate, and kind.
On January 19, 2024, we were given confirmation that Elin has a retinal dystrophy due to a very rare genetic mutation on the RDH12 gene that causes severe, early-onset blindness. There is currently no available treatment. We are absolutely devastated but clinging tight to our faith in Jesus Christ. He will heal Elin’s eyes and restore and preserve her vision and eyesight. Matthew 9:29, Matthew 21:14, Mark 8:25, Mark 10:52, John 9.
The year is 2024, and I simply cannot understand why there is no readily available treatment for a disease that has such devastating consequences. During the age of Artificial Intelligence and space travel, it feels incomprehensible. Because these retinal dystrophies are so rare and only affect a very small number of people, big pharmaceutical companies will not touch them due to what they perceive as a lack of return on investment. In turn, they are designated as “orphan diseases,” and the children who are affected are largely forgotten, primarily due to a complete lack of awareness. Before Elin’s diagnosis, I had no clue diseases like these even existed.
Fortunately, we have a glimmer of hope through potential gene replacement therapies. In 2017, the FDA approved the first-ever gene replacement therapy for retinal dystrophy due to a mutation on the RPE65 gene, marketed as Luxturna. It was designed and co-developed by Dr. Jean Bennett. Opus Genetics (located in Durham, NC) is now working on a replacement therapy for the RDH12 gene. They were expecting to file an Investigational New Drug application the first half of 2024. Sadly, they need more funding before that can be accomplished.
I don’t think it’s any coincidence that Elin is my daughter. I like to think that when the Lord was knitting Elin together and counting the hairs on her head, He thought, “I will give this little one to a woman with a very big mouth.” Then He thought of me. I plan to be VERY loud every single day until there is a cure for Elin and all the other children like her. God doesn’t make mistakes. These children are fearfully and wonderfully made.
Learn more about RDH12 and how you can help Elin by clicking here.
#ElinsEyesOnThePrize