Patients And Doctors Developing Independent Ocular Melanoma Registry
There’s a lot of anxiety in Huntersville over eye cancer. Concerns have risen as 20 cases of ocular melanoma have been diagnosed since 2008 in patients with some connection to the area. Whether that qualifies as a cancer cluster is subject to debate, but the number is perplexing since it’s a rare form of cancer.
Also perplexing: A handful of young women have been diagnosed even though it is more common in older men. Patients and doctors are eager for answers, but are having trouble making sense of the disjointed and incomplete data on patients. Efforts are underway to improve the data.
33-year-old Crystal Dawn Sousa unlatches what looks like a small jewelry box in her Myrtle Beach, South Carolina home.
“So this is my patch case,” she said.
Eye patch that is. Sousa had her left eye surgically removed two years ago because of a rare form of eye cancer, ocular melanoma, that affects about 2,500 people a year in the U.S. She pulls out to homemade and decorated patches. One with beige embroidery and a red sequined flower.
“I like to wear this one a lot," she said. "This has got the brown leather. I got one for my black clothes and one for my causal.”
And last year for Halloween she dressed up as a zombie and went without her eye patch.
“I was really wicked looking," she said. "Cause I look like a zombie without it.”
She has come a long way since the devastating news of the diagnosis a few years ago.
“I sat out in the parking lot and cried," Sousa said. "I had my dream job. And then they end up telling me I got cancer. I’m like, you have got to be kidding me. I’m like, god what is up?”
Sousa commuted nearly an hour from Rock Hill to Huntersville for a job as a makeup artist for almost five years. By the time she had her eye removed, there were five other women under 30 who either worked or lived in Huntersville who had also been diagnosed. In 2015 the state’s division of public health looked into a dozen cases of ocular melanoma in men and women and found the incidence wasn’t higher than expected. But experts like oncologist Marlana Orloff at Jefferson University Hospitals in Philadelphia says the way states count the number of cases causes confusion.
“A cancer registry gathers data but does not gather full zip code history or full residential history," Orloff said. "On paper, it looks like these girls live no where near each other when in reality they were all in the same town at a certain point in time when a potential mutual exposure happened.”
Related: How The Idea For The Ocular Melanoma Registry Started
An independent state funded study has the most inclusive count of ocular melanoma cases. Researchers have identified 23 patients with some relation to the Huntersville area over the past three decades. Each state operates a cancer registry. It’s a database of who has what type of cancer. But a person is only counted in each state’s registry if they are living in the state when they are diagnosed. And different states, universities, hospitals, clinical trials all have their own registries, that Orloff says aren’t necessarily compatible.
“The cases may or may not get back to the registries of the states that these patients lived in," she said. "It's possible we are actually missing cases.”
Something Kenny Colbert is concerned about. His daughter Kenan was diagnosed with ocular melanoma when she was 23 in 2009. She had just moved to Charleston, South Carolina.
“I nearly fell over to see that you would go into the registry of another state and the state’s didn’t communicate," Colbert said.
And even though Kenan spent most of her life in Huntersville, her case would go in the South Carolina
database. Meanwhile, back in Huntersville, Colbert and his wife, Sue, kept hearing about other women around Kenan’s age who had ocular melanoma and were calling the state cancer registry to find out what was going on.
“We kept saying we’ve got five cases," she said. "And they said no you don't. And they were just quoting what reading from statistical reports. We got the names we know who they are. Yes, you do there are five cases.”
The disease progressed to Kenan’s liver. She died in 2014. Now, the Colbert’s are involved in creating a patient centered registry that wouldn’t have geographical or institutional boundaries.
The Melanoma Research Foundation's CURE OM Initiative says it has raised most of the money. The idea is that patients could access it and self report some information, give the researchers tumor samples and talk with each other.
This kind of patient centered registry is becoming more common in the rare disease world. The National Organization of Rare Disorders or NORD got a federal grant to start registries for 19 different rare diseases. Jacqueline Kraska worked at NORD and is involved in developing the Ocular Melanoma registry. These types of registries follow patients over their lifetime.
“Natural history studies which tracks the progression of the disease helps fill those gaps of knowledge to help with the challenges that rare diseases face," Kraska said. "Diagnosis, coming up with treatments, cures, quality of life.”
Kraska and the experts are still working on the details of the ocular melanoma registry, with the goal of launching it next year. The Colbert's are hoping this can provide some answers for the disease that took their only daughter's life and help change the fate of future patients.