Stephanie Sims’ Letter of Impact

Jacksonville, FL

I grew up knowing that dad was gradually going blind. It was often difficult for him and our family knowing that he was losing his vision.

However, Dad is an amazing man and he has never let blindness stop him. Despite his vision impairment, he practiced medicine as a physician until retiring at the age of 71. He continues to travel the world with my mom, plays the huitar, swims, and basically lives a fulfilling life.

For a long time, Dad was told that he had a retinal degenerative disease called Retinitis Pigmentosa. However, in the 1980s he was told that he actually has choroideremia (CHM).

Based on our family tree, I knew from a young age that I am a “carrier” of the disorder causing my dad to go blind. I knew that I have a 50/50 chance of passing the affects CHM X chromosome onto my future children. I wondered if I should have children of my own.

In 2008, while I was a medical resident in psychiatry, my husband Justin and I were able to become pregnant. We were very excited and grateful, but I couldn’t help but worry about CHM. In January 2009, our beautiful son was born! We took him to see ophthalmologists starting at a young age so that his retinas could be evaluated. When Sullivan was 4 years old, his ophthalmologist told us his retinas were showing signs of CHM.

At first, I was devastated and sad. I grappled with feelings of guilt in the face of the diagnosis. With the help of CRF, I learned much more about CHM and the various research trials being conducted. I was able to find rays of hope.

I am dedicated to helping the CRF raise funds to help find a cure. And in the meantime, as we wait for a cure, I am dedicated to encouraging my family members and everyone affected by CHM (and other forms of vision impairment) to live life to the fullest. This involves advocating for inclusion and accessibility at school, at work, and in the community.

I know that my son will live a full, productive, joyful life that will be challenging at times, but overcoming barriers helps to make us stronger!

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