dr ochs

This week we went to Seattle, and met with immunologist Dr. Hans Ochs. I liked him. He was a smaller fellow who has a very amiable way about him. He didn't seem like he was in a hurry or that he had to get down to business and be very serious. Instead, he had bright eyes which showed his genuine interest in immunology and in Isaac and in explaining what he felt was happening. He tells how it is. I'm glad he didn't talk down to us or anything... Also, I like him because he's not the bearer of bad news. Not yet, so far.

SO, Dr Ochs has told us there appears to be nothing unusual with Isaac's DNA. The strangeness he saw in the promoter region for the gene that tells the cell how to make CD40L, it turns out, appears in people with normal immune systems. Well, this was encouraging to hear as a defect in the DNA is pretty much set in stone, not too much hope of outgrowing a DNA defect.

ANYWAY, they drew some blood this week from both me and Isaac. They wanted to run this test that would that would see how much of this CD40L our T-cells were expressing. Remember, that CD40L is what allows T-cells to tell B-cells to make necessary antibody. Isaac's CD40L expression was 9% of normal when they tested his blood last November. Fifteen percent is the minimum amount needed to have an adequately functioning immune system. They were testing my blood to see how much I expressed. If it were around 50-70% then it might indicate that I have an X chromosome's not functioning properly. But I guess I was normal, which is somewhere between 90-100%. YAY!!! And Isaac's CD40L expression was somewhere near 35% of normal, which is WAAAAY above 9%.

SO YAY! Yay for Isaac. Yay for us. Yay for me in that it means if I have other kids, I wouldn't be passing an immune defect a long. But we're not out of the woods yet. We are still treating him as though he has some immune deficiency since we are not sure what's going on just yet. We will be testing other proteins expressed by his T-cells , making sure at least they are within a normal range. Then we will need to infect him with a benign virus (a virus that attacks bacteria) to see how his T and B cells interact. Meanwhile, we will continue to give him the synagis shots, the immunoglobulin infusion, and the antibiotic prophylaxis -- at least until he passes those other tests.

Well, what of the pneumocystis? what of his lungs? These are still questions to be answered. Dr. Ochs wondered if he had pneumonia caused by pneumocystis at all? He said the lab work only said that Isaac tested positive for pneumocystis, and that it didn't indicate how much was present in his lungs. Pneumocystis is everywhere, and at some point we all need to fight it off. It could be that Isaac did catch some virus which could have had some immune suppression side effects, and the pneumocystis was there taking advantage (it is an opportunistic type bug). It could be that Isaac's ability to generate this CD40L was just really immature. Dr. Ochs did mention cells found in cord blood express very little CD40L. And as a baby matures, he can express more and more. This coincides, too, with the fact it takes babies up to six months to be able to create all the antibodies they need on their own. And right around Isaac got sick with the urinary tract infection (2.5 months old) is supposedly when the antibodies he received from me during pregnancy begins to deplete (they are actually absorbed into his body) and when his body should start to generate his own. At this time, I've heard, is when babies are at their most vulnerable -- when he's not quite generating enough antibody, and doesn't have enough left over from mom.

So, bottom line, we don't know what the hell has happened to Isaac. And he could still have some immuno-deficiency. We are not sure. These tests will reveal much, I suspect. Infecting him with that benign virus will be the real test, I think. And I've a feeling he will be fine.

And in the meantime, we gotta get his lungs fixed. Hopefully, we can figure out what happened. Or, more importantly, he will just get better. And it won't really matter if we ever find out what happened. He is starting to eat more, which is very encouraging especially since we've been talking about getting a tube inserted directly into his stomach.

Well, I feel optimistic. Yay! Robert feels optimistic. Isaac's doing alright. He sits so well. And today, he moved from a sitting up position to a crawling position. He rocked back and forth a little. Then he sucked on my knee which was conveniently right there. And then he fell on his stomach. ehehe He's a little cutey-patooty. He even feels heavier to me. We might just have a practically healthy baby on our hands. c'mon Isaac's lungs!!