Since this blog is about Kal's
life with CGD (Chronic Granulomatous Disease), it's probably a good idea
to take the time and explain what CGD is.
Let me start out by saying that although my child has this disease, it does not define him.
Let's look at the definition of the word, "define":
de·fine /diˈfīn/ verb
1. state or describe exactly the nature, scope, or meaning of.
2. mark out the boundary or limits of.
(Thanks, Google. Haha.)
There
are statistics, science research, and scary outlooks and possibilities
for this disease, but he is so much more than this disease. He may have
limitations, but he is our sweet, smiley, baby boy. His little spirit is
so great that I can sometimes feel it filling the room. At times, I
almost feel as though the pureness of his spirit is too much of an honor
to be in the presence of, compared to my small, weak, and selfish
spirit. He is just one of those people that radiates joy with just a
smile. It's an incredible experience to have him as our son.
Now, on to the complicated stuff. I'll try to keep it in layman's terms as best as I can. (Deep breath, everyone...)
Chronic
Granulomatous Disease (CGD, for short) is a rare disease of the immune
system. It is an immune deficiency, not an auto-immune disorder. This
means that unlike an auto-immune disorder, in which the body attacks
itself, those with CGD or other immune deficiencies lack something that helps the body protect itself and fight against certain infections.
Those
with CGD lack the ability to create hydrogen peroxide and bleach within
certain types of white blood cells, called phagocytes. This defect
within those white blood cells causes the body's inability to kill off
certain bacteria and fungi. That means if a person with CGD comes in
contact and is infected with certain bacteria and fungi, those
microorganisms could run rampant throughout the body and wreak havoc
(aka, go wherever they would like and do a heck of a lot of damage to
the body).
Chronic
Granulomatous Disease is given it's name from how the disease presents
itself: with granulomas. A granuloma happens when many immune cells sort
of knot together in one place to create a mass or abscess. Therefore,
typical problems for those with CGD include infections involving the skin, lymph nodes, lungs, liver, and bones. Pneumonia is a common problem for those with CGD, as well as liver abscesses, osteomelytis (infection of the bones), and issues in the gastrointestinal tract.
To help avoid possible infection, primaryimmune.org describes some basic precautions for those with CGD:
"Many physicians suggest that swimming should be confined to well-chlorinated pools. Brackish water in particular may expose patients to organisms that are specifically dangerous in CGD (Francisella philomiragia, Chromobacterium violaceum)...
"A major risk to patients with CGD is the handling of garden mulch (shredded moldy tree bark) or potting soil. This type of exposure can cause a severe life-threatening pneumonia due to inhalation of the fungus Aspergillus, which likes to live in decaying plant matter. Patients with CGD should remain indoors during mulching in neighboring yards. Once the mulch is settled firmly on the ground and is not being spread or raked, it is much less of a danger to patients with CGD. Patients should avoid turning manure or compost piles, repotting house plants, cleaning cellars or garages, removing carpets, performing demolition, digging in dirt, dusty conditions, cutting grass, raking leaves, hay rides and barns. Patients should see their doctors about even minor infections."
There are 5 different kinds of CGD. They all come from mutations in the DNA. 4 of those kinds are autosomal recessive, meaning mutations (aka "mistakes") on the DNA from both parents, when combined, create the CGD.
The
other kind is X-linked, meaning it was passed down from the mother to
the child. It is typically much more common males, as males are given an
X and a Y chromosome, and given that they only have one X to present
it's traits and mutations, then it usually does. For girls, having this
type of CGD present itself is quite uncommon, and is usually less in
nature. But, if it runs in the family, girls are carriers of the
disease. Since girls have 2 X chromosomes, usually the one X chromosome
will make up for the mistakes on the other one, and therefore the
disease will not show.
The X-linked version is much more common, yet typically more severe. This is the kind of CGD that Kal has.
To help build a wall, so to speak, against
possible infections, Kal must be given an antibiotic twice a day, every
day. He also takes an anti-fungal medicine daily. In addition, three
times a week, we have to inject him with a medicine that helps strengthen the rest of his immune system.
According
to his immunologist, if Kal continues with his "maintenance medicine,"
he would get a serious illness/infection about every 1 or 2 years that
would put him in the hospital for anything from a few days to a few
months.
Life expectancy varies on the amount and severity of infections one with CGD endures. It is a lot better than it was years ago, and getting better as time goes on. Currently, the chances of one with CGD to live to 35-40 is around 40-50%. I still don't like those chances.
CGD can only be cured through a bone marrow or other type of stem cell
transplant (as described in my last post). Also described in my last
post, there are many possible complications and risks involved in a stem
cell transplant. But, at least it's a chance.
If
you would like more information on this topic, I have received
information mentioned above in this post from the following websites:
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