Home from the hospital

This house seems large and spacious after having spent 17 days cooped up in a hospital room. Well, we seem to have the distinction of having a very rare genetic condition affecting Isaac's immune system. An initial highly-accurate (90%) screening test has been performed on Isaac's blood determining he has something called X-linked Hyper IgM syndrome. Isaac's currently being treated as if has this syndrome. We will not have a 100% sure diagnosis for another few weeks, I'm suspecting. I have not been given an official ETA.

What is this hyper IgM syndrome, you ask? Well, a gene on the X chromosome is responsible for creating a protein called CD40L. This protein is responsible for your body's T-cells ability to tell your B-cells to make appropriate antibodies which help combat invading pathogens (these include viruses, bacteria, fungi, cancerous cells, etc...). With hyper IgM, the body is unable to make enough antibodies to adequately defend itself, the T-cells cannot bind with the B-cells to make all the necessary antibodies because of a lack of the CD40L protein. He has apparently inherited this from me. The reason I do not suffer from a lacking immune system is because I have two X chromosomes and one of my X's can generate this protein just fine. Unfortunately, Isaac got the bad X.

And how did this all come about? Why are we even suspecting problems with his immune system at all? Well, the pneumonia he came down with this past month was the raising of the red flag. He contracted something called Pneumacystis Carinii pneumonia (PCP). Pneumacystis is a fungus that is apparently everywhere and anyone with a normal immune system develops an immunity to it on their own. Only people whose immune systems that have been seriously compromised in a very major way contract the pneumonia. Usually those people have AIDS, undergone chemotherapy, or have some defect in their immune system.

What does this all mean? I dont' know! Right now, we are awaiting a 100% sure diagnosis. Then we will probably have all sorts of debates, deliberations, considerations, consultations, etc... In the meantime, I'm trying to take stock in the situation and appreciate this cute little baby I have as best I can. He is vastly improved and looks like he'll recover from this bout of pneumonia just fine.

That's it for now.