This entry may be a bit dry. I am going to attempt to explain my son's disease... It took me several months to research and get into the details of his disease. After his diagnosis, I couldn't or didn't want to really know about the disease. Ignorance is bliss, right? I figured the less I know, the better. But with time, I had to know. What if by my ignorance I cause harm to Timothy? That was the fear. As I delved into the details, I found myself getting more and more engrossed and obsessed trying to know everything about everything related to CGD. Then depression would hit with knowledge coupled with fear and anxiety. I would peel away from the computer because it was too much. And for months I wouldn't go back. This cycle would repeat many times.
Alternative name for CGD, among many, is Fatal Granulomatosis of Childhood. About 25 years ago, children with CGD didn't live beyond their 10th birthday. Since then, the prognosis have improved dramatically. Most of the websites I've visited are outdated by at least 15 years (according to our immunologist). Due to the rarity of the disease, research is sparse and information hard to gather. Only 20 patients get diagnosed with CGD every year. 1 in 200,000. Some sites will state 1 in 1,000,000 have CGD. Of course, my son had to be one of them. Many think Timothy has a weakened immune system. To clarify, his immune system is not weak, but a part of his immune system is defective. Our immune system is very intricate knowing how to fight various types of germs: bacteria, virus and fungus. CGD patients can fight any viral infection like a healthy person. Viral infections will go through its course. What CGD patients lack is it's ability to fight certain types of bacteria and fungus which require hydrogen peroxide to fight. White blood cells do the fighting when foreign agents enter our body. Phagocytes or neutrophils, a type of white blood cells, typically engulf the foreign agent (bacteria or fungus) and shower them with hydrogen peroxide to kill them. Timothy does not produce hydrogen peroxide. Not all bacteria and fungus require hydrogen peroxide, so for those germs, Timothy's neutrophils will do its job to eliminate them. So after learning about this, I was on a mission to find out all the bacteria and fungus harmful to my son. But that was an impossibility. Most common ones are staph (bacteria) and aspergillus (fungus). The difficulty is both staph and aspergillus are ALL around us and are not harmful to healthy people. Most people carry staph germs around them. Timothy has to be on antibiotics daily to prevent infections.
Here's picture of a neutrophil fighting bacteria. Respiratory burst is the act of producing hydrogen peroxide.
So what's the prognosis? The doctors don't give me a definite answer. Some say with meds and luck, a long healthy life. Some 30's or 40's. Or if Timothy's an unlucky one, then anytime he contracts a life-threatening infection. I have read somewhere that on average CGD patients contract a life-threatening infection every 4 years. With recent advances, there is a cure for CGD, bone marrow transplant (BMT). We are currently in the process of finding a match. Timothy's best chance was with Claire, a biological sibling. Unfortunately, she's not a match. We are looking for a non-related bone marrow match or cord blood match. Only God knows Timothy's future. We are just trying our best with what we know to provide what's best for our son's health. If you aren't already, we humbly ask you to consider joining the National Marrow Donor Program and register. If not for Timothy, for many many others who depend on BMT for survival. Thanks for reading.