Cory’s story: Living with Choroideremia; Choosing to live with courage
Cory was four years old when he was diagnosed with Choroideremia (CHM), a rare hereditary disease that causes gradual loss of vision. Starting with childhood night blindness, CHM progresses slowly and is followed by peripheral vision loss. Ultimately, it results in loss of central vision.
He has no memory of ever seeing a star in the sky.
Primarily seen in males, CHM is a rare disease estimated to affect one in 50,000 to 100,000 boys and men. It is genetically passed through families by an X-linked pattern of inheritance. Female carriers are typically not symptomatic1, although many carriers experience night blindness and glare sensitivity, and in very rare cases, carrier females suffer the full effects of CHM.
When Cory’s cousin Bobby was diagnosed with CHM at the age of 22, the entire family was called in for testing. At the time, Cory was the youngest person to ever be diagnosed with the disease.
“My great grandfather had CHM but was never diagnosed. He was blind when he passed away in 1964. He fathered five carrier daughters, which included my grandmother, and all of them had children, so CHM has been passed along to many of us. We used to joke that family reunions were really an afternoon of bumping into each other and saying “excuse me” because so many of us were affected,” he says.
Though he was diagnosed early, Cory didn’t realize the effects of the disease until the age of 10.
“I don't think it really became evident to me until I was probably 8 or 10 years old when I started noticing that things like playing hide and seek at night with friends was an impossible thing for me to do. And that is when it first started to impact me,” he recalls.
Cory had always been active but as his eyesight diminished so did his opportunities to participate in some of his favorite sports like volleyball and martial arts. He eventually had to stop as his visual field continued to narrow. But his passion for martial arts remained.
Emotionally the turning point for Cory was when he started using a cane.
“One of the things you learn early on as a martial artist is to not be a target: to try not to look like a target with your body language, to always keep your head up. And all of a sudden, as I walked around with a white cane, I felt like a target,” he says.
This is when he decided to start experimenting with the cane, ultimately developing nine techniques using the cane as a self-defense weapon.
“I started martial arts because it was a passion and I had no choice about becoming low vision. Turning the very thing that made me feel like a target into something that gave me confidence was my way of feeling more empowered and in control,” he says.
And for Cory that was enough.
Not long after, a friend invited him to a blindness convention where he participated in a session where individuals who were either blind or low vision did something “out of the box.”
“There was a blind artist, a blind aerobics instructor and I was there for martial arts. I did some board breaking, some self-defense techniques with a partner, including a couple of the cane techniques and it just kind of exploded. The whole weekend people were coming up to me and asking, where can I learn this?” he recalls.
Working with his mobility instructor, Cory developed the Blind Justice System of self-defense. Four years later he had to leave the group to focus more on another group he helped build: Choroideremia Research Foundation.
According to Cory, it all started as an email-based support group.
“It was just a way for all of us to help each other, because it’s not easy to know that every day when you wake up you have a little bit less sight than the day before,” he says.
As the group grew so did the realization that there is very little research on CHM. Cory and others decided to do something about it and founded the Choroideremia Research Foundation in 1999. Since then, the foundation has funded nearly $4 million in CHM research and continues to raise awareness for this rare disease.
For Cory and many individuals living with CHM, life is about adapting and moving forward. It is about not spending too much time looking back on what is lost, but looking ahead and creating new possibilities:
“I didn’t choose CHM. But I do have a choice on how I live my life. I can stick my head in the sand and cry, or I can pick my head up and live my life as best I can. I decided a long time ago I was going to live my life on my terms. That was my choice.”
Choroideremia was first described in 1872 by Austrian ophthalmologist Ludwig Mauthner when examining a patient, he noticed that the color of the retina looked pale and not its usual bright orange color. Almost a century later, in 1991, Prof. Frans Cremers discovered the CHM gene that causes the disease.
It is caused by a loss of function in the CHM gene which encodes the Rab escort protein-1 (REP-1). The REP-1 protein plays a role in intracellular protein trafficking, and the loss of function in the CHM gene leads to abnormal intracellular protein trafficking and impaired elimination of waste products from the retinal pigment epithelium and photoreceptors. Initially, patients with CHM experience poor night vision and over time, progressive visual loss ultimately leads to blindness.
CHM is a monogenetic disease so retinal gene therapy is examining the potential to restore the mutated gene with a healthy one, thus potentially halting disease progression. Because the retina does not regenerate, existing damage would be irreversible; however, already healthy parts could potentially be preserved.