Family Finds Treatment for Chronic Granulomatous Disease

According to a story from The Post and Courier, Chantel Bass and her family have been living in the shadow of a rare immune illness called chronic granulomatous disease (CGD). The disorder claimed the lives of her sons Dennis and Denarius. Only about 20 people in the US are believed to be born with the disease each year. Chantel was able to finally get the correct diagnosis and treatment at the Medical University of South Carolina (MUSC). 

About Chronic Granulomatous Disease

Chronic granulomatous disease (CGD), which is also called Bridges-Good syndrome, describes a diverse group of hereditary genetic diseases. They are characterized by the appearance of granulomata (small clusters of macrophages, a type of immune system cell) in many organs throughout the body. This is the result of immune cells not being able to form the reactive compounds used to destroy pathogens. It is caused by mutations affecting the NOX2 or CYBB gene, which is found on the X chromosome. Therefore, most cases of chronic granulomatous disease are X-linked. Infections are the most common symptom and appear due to the compromised state of the immune system. Infections may include skin infections, pneumonia, bacterial or fungal blood infections, septic arthritis, and osteomyelitis. The agents that cause infection are almost never dangerous in healthy people. Treatments include antibiotics, interferon, and stem cell transplant. A stem cell transplant can cure the disease but comes with serious risks. To learn more about chronic granulomatous disease, click here.

Finding Treatment

Chantel has lived with chronic infections that she could not explain. Now the family is working with Dr. Kelli Williams at MUSC to ensure that no one else in the family faces the fate of Dennis and Denarius. The illness doesn’t present in the same way among different families. This makes it difficult to diagnose based on symptoms alone. Treating the Bass family has also played an important role in studying chronic granulomatous disease.

Dr. Williams notes that while women were believed to only be carriers of the genetic mutation associated with the illness, Chantel and her daughter Denezyia are both showing mild symptoms. Preventative treatments, such as a regimen including antibiotics, antifungals, and interferon gamma, have greatly increased survival rates in recent years.

Even after the boys were diagnosed, it simply took too long for the family to find doctors that knew what to do or would take the condition seriously:

“It was like, for once, someone didn’t give up,” Chantel said when they found Dr. Williams.

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