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.

 
 
Stephanie, her husband, Justin, and their son Sullivan—the boy who inspires them both.

Stephanie, her husband, Justin, and their son Sullivan—the boy who inspires them both.

I grew up knowing that my dad was going blind. It was often difficult for him and for our family knowing that he was losing his vision. However, Dad is an amazing and smart man and he has not let blindness stop him. Despite his visual impairment, he is still a practicing physician who recently travelled to the Dominican Republic for medical mission work! 

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), which is another type of rare, genetic retinal degenerative disease that is X-linked recessive in its genetic pattern. CHM causes night-blindness in childhood followed by progressive peripheral vision loss and eventual total blindness. Based on our family tree, I knew from a young age that I was a “carrier” of the disorder causing my dad to go blind. I knew that I had a 50/50 chance of passing the affected CHM X chromosome to my future children. I wondered if I should have children of my own. 

“The thought of our beautiful boy having to lose his vision was overwhelming to me. I grappled with feelings of guilt and ineffectiveness in the face of the diagnosis.”

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 some ways, I hoped that I was pregnant with a girl so that she could “only” be a carrier like me and not be fully affected. Justin and I found out via ultrasound that we were having a baby boy. I again hoped that he would be spared the CHM gene. 

In January 2009, our son, Sullivan, was born and our world was forever brightened! 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 that his retinas were showing signs of CHM. At first, I was devastated and sad. The thought of our beautiful boy having to lose his vision was overwhelming to me. I grappled with feelings of guilt and ineffectiveness in the face of the diagnosis. Justin was extremely supportive and positive, but I struggled to see the hope in the situation and at times felt depressed.

My dad and mom encouraged me to become active with the Choroideremia Research Foundation (CRF). By educating myself more about CHM and the various research trials being conducted, I was able to eventually find a ray of hope. However, I still felt powerless and thought that I couldn’t do anything to help my son. 

Stephanie and her son Sullivan consider training a family affair!

Stephanie and her son Sullivan consider training a family affair!

In summer 2015, I learned about Team CHM which is an effort by the CRF to help raise awareness and funds for CHM research through athletic events. It just so happened that I was already participating in local triathlons in my area, and I decided that I wanted to give fundraising a try. I learned that Team CHM was to be an official charity for IRONMAN Wisconsin (IMWI) in September 2016. At that point I hadn’t even done a half Ironman yet but I decided that racing a full IRONMAN would be my way of raising awareness and funds for Team CHM. Four additional members of my local triathlon club made the amazing decision to join me in training and fundraising for Team CHM and making the journey to IMWI. Together, the five of us we were able to raise over $30,000 for the CRF!

Training for the race was intense and time-consuming. Without the support of my family and my teammates, it would have been a daunting task but as a team, we were able to help each other and see it through. I wore my Team CHM triathlon kit with pride on September 11, 2016, when I completed IMWI in 13:00.09! Justin and Sullivan were there on the course cheering for my teammates and me all day, and they were there at the finish line to hug me tight.

My overall experience with fundraising and Team CHM has been extraordinary. I have gained a sense of empowerment and hopefulness as I talked to people about CHM and how it affects my family. I learned that people want to donate to good causes and to support the people in their community. I found that my heart was so much lighter knowing that I was finally doing something for my son and for my dad and for all of the men affected with CHM. I plan to continue to raise funds and awareness and am proud to be playing a small role in supporting this important research.


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