SC mom fights rare disease after losing children
CHARLESTON, S.C. (WCSC) - A South Carolina mother who has been battling a rare genetic disease for years and lost her two sons to the disease is sharing her story as MUSC works to treat this rare disease.
Living in Lake City, Chantel Bass is a South Carolina resident that has suffered from Chronic Granulomatous Disease for her entire life but did not know it was CGD that she was experiencing for many years.
“I wish I was able to have put a finger on what it was that I was having symptoms on,” Bass says. “I wish I was able to be medicated because then I probably would have made a different choice in life; because it changed my life.”
CGD is a rare disease that only 20 people are born with each year in the United States.
People with the disease have an immune system that does not work properly according to the National Institute of Health.
“It’s a genetic disorder that some people are born with, and there’s a few different gene mutations that can cause it,” MUSC Doctor Kelli Williams says. “The one that we’re talking about is x-linked, which means that the gene is carried on the X chromosomes so moms can pass it to their children, the boys, and then can pass the carrier state on to their girls.”
Williams was connected with Bass after she continued to search for resources for many years after her two sons, ages 7 and 8, passed away from the disease.
“I just have some like really down and dark days at times because of this illness,” Bass says. “It changes your life me losing my sons has changed my life but knowing that me and my daughter have to fight through this disease, it’s a lot to handle.”
Williams says the hospital is working to come up with treatment and clinical guidelines, how to manage helping people with the disease and how to diagnose CGD earlier in life.
“There’ll be a bigger story to share, and to the whole world, both primary care doctors, rheumatologist dermatologists who are taking care of other carriers, who may just think, ‘oh, they have a gene,’ but they don’t understand they can actually get sick,’” Williams says. “We’re working internationally, nationally, to really better characterize this and so we can understand it.”
As Bass and her daughter, Denezyia Cohen, continue to fight the rare disease, she continues to advocate for herself and her daughter.
“It’s like finally, finally, somebody understands, and somebody’s heading us in the right direction,” Bass says. “We’re on medicines to where we’re not as sick as we used to feel like. It’s a relief to know that they are on the right track and that they won’t quit until they find answers.”
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