by the non-medical expert - Jodi Powell
Chronic Granulomatous Disease - a defect of the immune system with varying degrees of severity that it inherited at birth and not conceptualized by chronological onset or any form of contagious exchange. You cannot catch it. You must be born with it. It is very rare and is not something they will test your children for at birth like Downs would be.
Jeremy was born with it. His mother was a carrier and his grandmother was a carrier. That is as far back as they can trace it as Jeremy's great grandmother died when his grandmother was only 12. It rarely surfaces in girls, more often in males. There are rare instances where a female can possess the disease, but both the mother and the father would have to be a carrier and/or have the disease. They did not discover that Jeremy had the disease until he was around 18 months old. He developed an illness and through a series of tests, they discovered that he had an enormous amount of abscesses on his liver. They surgically tried to remove them (keeping in mind this was the seventies). In the healing process of the attempt to remove the abscesses, the body rejected the staples that were holding his stomach back together in it's pitiful attempt to push a foreign particle out. Surface level infection is almost easier to remove because we can see it and remove it. As a result of this rejection of staples, Jeremy had to heal with an open wound. Now if that doesn't rock your world, try this. He is 18 months old undergoing this trauma and his 20 year old single mother is enduring being told that her son has a fatal disease that will most likely take him before he turns 5 years old and yet remain strong for him so he can recover from this current trauma. Makes you think differently about colic doesn't it. :)
When Jeremy was diagnosed it was Fatal Chronic Granulomatous Disease, but they have come so far in their research and understanding of this disease, he has defied the odds, along with his cousin Allen, who also bears this load. Basically what happens is through exposure to bacteria and fungus a normal body goes into defense mode attempting to rid your body of this infectious and unwanted material. Ways we are exposed to bacteria and fungus are pretty commonly understood, but we are so unaffected by it with our strengthened immune systems, we are unaware of just exactly where it might be. Now, this is the place in the lesson where all of you hypochondriacs need to go to bed and find your hypoallergenic pillow and sheets and drift off to a pollen free world.
Exposure includes touch, fluid exchange (ingesting), or inhalation. Stagnant ponds are a HUGE NO-NO because bacteria and fungi love unmoving moisture. Places where moisture has collected and poorly drained, in other words, flooded areas, piles of debris like leaves & mulch, hay, older buildings and homes that have suffered from water damage or are just musty, pools without active pumps or sufficient chlorine, fresh cut grass, exorbitant amounts of dust, etc. are all dangerous for a CGD patient. There is no control over what is circulating in the air in those types of environments unless there is a sturdy HEPA filter working diligently to clean and purify the air of all of the pollutants. Even an excellent HEPA filter will never get it all, but it can help a ton.
Now, what happens when he inhales, ingests, or touches certain things that might contain sources of infection? Here is your science lesson that I am sure Jeremy will come back and add to when he is up and able. When the average human body ingests an infectious material, the first reaction is sensors and receptors to inform one another that "one of these things is not like the other" and it must go. Here comes the superheros of the body - the white blood cells. The white blood cells approach the unwelcomed cells and lay the smack down. They engulf this infectious debris. So now, picture in your visual mind a much fatter white blood cell. Snicker. Now what? Once inside the white blood cell, the infectious matter is sprayed by hydrogen peroxide. This process is called respiratory burst. It happens almost instantly when a white blood cell does it job and ingests a harmful object. Once sprayed with the hydrogen peroxide, the infection disseminates and is excreted out of the body with other waste essentially. Job done.
Jeremy's body is lacking the enzyme to produce hydrogen peroxide. Others cannot burst at all. His precious little white blood cells attack the infection, engulf it, and even spray it, but nothing comes out during the respiratory burst. So often what happens when Jeremy gets an infection is the doctors find a fungal matter COMPLETELY SURROUNDED BY WHITE BLOOD CELLS trying their hardest to destroy this infection. There are good and bad things that come of that. If a sufficient amount of white blood cells get to the infection before Jeremy's medicine can get to the infection, they form a wall around the mass preventing the penetration of the antifungal or antibiotic. This is what they found with this mass in his lung. It was surrounded by a thick coating of white blood cells desperately trying to save him.
His lungs are the most vulnerable place because they are where the greatest amount of foreign objects enter his body - through breathing. It is thought that this infection has been growing for MONTHS, so we are not able to pinpoint what might have caused it. We can only go from here in seeking to prevent another one.
The Granulomatous name comes from the title they give to these infections masses that form - granulomas. He has had SEVERAL. Some are minor surface level - one behind his ear, and on his hand. Some are just below the surface - 2 surgeries to remove a granuloma in his sinus cavity. It has grown back and restricts his airway, hence the mouth breather. Some are deep within the body - the vertebrae, the lungs (4-5), the liver, the trachea or esophagus. Sometimes they are spongy and sometimes they are hard. It just depends.
Research is astounding compared to 20 years ago. Right now, the doctors here currently have a patient who has undergone a bone marrow transplant. Basically, they harvested this patient's bone marrow and duplicated the blood cells and re-implanted the marrow with new marrow that is corrected and currently replicating adequate white blood cells. THIS IS A MIRACLE. They basically retrained a body to no longer make dysfunctional white blood cells, but to make correct white blood cells. To undergo this treatment though, the doctors want you to be at a place whee illness has brought you to a place of little hope. Jeremy is well compared to what they foresee. However, with this enormous step, who is to say what they can do with and for him in 10 years. Remember, when he was diagnosed, it was FATAL. He is 31 - 26 years beyond his expected date of departure.
This is why you sometimes see me move into over protective mother (and annoy Jeremy) at certain events. He so longs to be "normal" but I so long for him to "live". I know that several of you mothers out there concur. He takes quite a few risks and partly because he is on such strong antifungals and antibiotics on a daily basis to combat any infection and to substitute for his weakened immune system. However, we still must be careful. Now don't handle him with kid gloves. He hates that. Yet, at the same time, help me be cautious for him. He is a treasure and I want him to understand that.
Now, did I answer all your questions? If not, spit them out. I will see what I can do.