Happy Winter Solstice

Hey all! Here's to hoping you are all healthy this winter. Drink them fluids and take your vites. :-)

So, lessee some updates:

1) We talked with Hans Ochs the seattle-based immunologist who has been looking into the underlying immune problems Isaac has. Here is the general gist:

• the gene for producing the CD40 ligand (CD40L) seems to be intact; in fact, some of his T cells are able to express this CD40L. to review, his T cells need to be able to communicate to B cells to tell them to make different types of antibody. this communcation occurs because of the CD40L. when this protein is missing, the communication does not occur and the B cells never make those antibodies necessary for protection. this problem is called hyper IgM. the reason it is called hyper IgM is because B cells make a disproportionately large percentage of the IgM antibody compared to the other types (IgA, IgD, IgG, IgE). i think IgM does not require the T cell to tell the B cell to make it.
• the promoter for this gene, however, seems to have a mutation. the promoter is a region on the DNA whose function may or may not (because i'm not entirely certain) is to turn on the gene. a doctor gave the analogy that it's kind of like a light switch. and Isaac's flickering. because he's able to express the CD40L sometimes. perhaps just not enough, right now, to properly defend himself.
• there is one other case . and, no, i did not ask what happened to this other case. it is a question we have on our queue for when we talk to Dr. Ochs again.
• sooooo, because this case is so unique... there may be a possibility he'll outgrow his immuno-deficiency ???? we just don't know.
• they are testing my blood next to see if isaac inherited it from me. i guess he's not looked at my blood at all, and in fact, they may have misplaced it because they didnt' realize my last name was not Taylor. if i test positive, then they'll check Shell's, then Grandma's. If they have it, then my uncles and brother will be checked. and i'm not sure what exactly will be determined. only time will tell.

2) we met with the pulmonologist on friday. we discussed his rapid breathing, crackly lungs, etc... an xray was taken and it still looked cloudy but there were more clearer spots so that is a good sign. he said isaac's lungs were pretty expanded all the time. normally, your lungs expand when you inhale and relax when you exhale. well, his are inflamed and stretched out already. this accounts for his effort to breathe and high respitory rate. so we doubled his steroid intake. and we are giving him a steroid inhaler. already, it seems his breathing is easier. but it is still rapid.

3) today, i spent 7 hours at the hospital getting isaac set up with his second round of IVIG and synegis shot. IVIG is an infusion of antibodies that have been collected from a wide array of peoples' donated blood. supposedly he is quite well protected from lots of viruses, as protected as most adults. the synegis gives him live antibody meant specifically to protect him from the RSV virus. these shots and infusions need to be given monthly as his body will absorb the antibodies over time. and they are quite pricey, like over $1000 for each. our co-pay for these medicines is 20% and while that is a big break... well, it's still spendy.

today he weighed a bit less -- 14 lbs 2 ozs. he's been quite a finicky eater as of late. we're thinking maybe he has heartburn. so we're trying this anti-heartburn med to see if this has an effect.

i'm almost starting to think maybe we should let him be and let his body heal himself... but i just don't know. i guess for now we're staying the course the doctors have prescribed and so we shall see.

what else? isaac's sitting on my lap now. i think he likes my computer. his hands are exploring everywhere. really cool to see. his hands are cold, and i'm wondering why the heat's not on. i think this winter thing is really start to set in with its colder temperatures. i'm glad the days will start to get longer again. for isaac, until a day ago, the days have only been getting shorter.

oh what else??? i've written quite enough. this is it for now.

heavy breather

yeah, that's my boy. sometimes he tops 100 breaths a minute (avg for a baby is between 30 and 60). his breathing seems less intense when he's standing up. so it's a good thing mama-doodles got him his cool Jumperoo. his breathing definitely interferes with sleep and eating. but sure doesn't get in the way of his happy baby demeanor. when he eats, he has to take breaks to catch his breath. and i know he doesn't sleep as deeply. i can usually tell this by how much he's moved around in his crib. he moves alot when he's not sleeping as much.

he's sucking his thumb right now. he loves to spin and twist the little doohickies on the jumperoo. it's neat to see him starting to develop an interest in toys. he looks so intently at what i'm doing.

sometimes i get rather caught up in feeding him his 750 calories of food a day. this is no easy task as he tires easily and so feeding him 100ml every two hours can take a long time. and we never quite reach the goal. and i feel like i'm living the number game again. but he needs his food. and so long as he's gaining weight, i'm happy.

i feel like if his breathing would ease up, then he'd be able to nurse again. he'd sleep better... and well... it just would be better!!! so, isaac, if i've told you once, i've told you a million times, GET BETTER ALREADY!!!! :-)

tummy time

hereslookingatyou
Originally uploaded by sarahswamps.

no big changes to report. he's still breathing hard and fast. but he's gaining weight. we checked in the hospital a week ago weighing 13 lb 8 oz. and yesterday isaac weighed 14 lb 8 oz. not bad!! a pound in a week.

i sure am loving this little guy. he always always has a smile.

Roll Over, Isaac

Yes, Isaac had a turning moment, today. He rolled over from his belly to his back today several times. Sometimes he doesn't get it on the first try and he lets a shriek of frustration, but he tries again and succeeds. So far he's only rolled to the right.

Well, we've just returned from a two day stay at the hospital. We went because it seemed like Isaac wasn't eating as well and he was exerting a lot more effort to breathe. Isaac's working very hard these days. Working harder than George Bush, I would say. When he breastfeeds he breathes heavily about 5-10 times in between swallows. And his latch isn't always that strong. Fortunately, it is easier for him to eat from a bottle.

Anyway, we are home because we can support Isaac him as well as they can at the hospital. We have him on extra oxygen. He's been set up with a feeding tube for supplemental nighttime feeding. He needs as much sustenance as possible to fuel his labored breathing, his healing as well as his normal baby development. It's good to be home, I must say.

On the morning of our discharge I awoke with a stomach-ache which progressed into a nice debilitating bout of food poisoning. Yes, NEVER EAT HOSPITAL FOOD!!!!! I am all better, now.

Good bye!!!

Roy and Edeana!
Grandparent kisses and hugs
We all miss you much!

(a haiku)

It was great to have them around, and today they are gone. And now, it's officially back to being on our own. We got the kitchen abit more organized. I'm in the process of setting up my Isaac files and getting all organized with that. And paying those dratted bills. You know how it goes...

ok, later!

Relaxing a bit

Well...

Tomorrow, Robert's folks go home. It's really been great having them around. I can't seem able to convince them to stay. But, it's true they've got quite abit of a drive ahead of them. They've given me and Robert the chance to relax a little.

Really, it seems life is back to normal. Except for the fact that Isaac's got a canula stuck up his nose for the extra oxygen, you'd never know that we just spent 17 days in a hospital. He seems to be pinking up little by little. And he's eating alot! Thankfully. We figured out how to feed him some of his meds using a bottle and some organic formula I bought. I'm also throwing in some acidophilus for good measure. What with all these antibiotics and all. I'm eager to see some solid stool in his diaper! Solid as a breastfed baby can get, that is. So yeah, Isaac's taking to the bottle. I'm only giving him a little bit, 2 oz, so that he can still be up for some breast milk. It sure is whole lot easier than forcing medicine into his mouth with him hollaring and screaming and spitting it back out.

We still do not have a 100% diagnosis. I have inquired and received no response. hrmph! I sure do have a whole bunch of questions about this, one of the biggest ones I have is how protected from those viral, fungal, and bacterial antigens is he? How much of a functioning immune system does he have? And are they even testing for this? As I am writing this, I am realizing it's probably not good to be so kept in the dark. I think this week I needed to decompress abit. Next week, time to get on the ball.

What else is new? Well, Robert's reading and geeking out on the top chess games of 1993. It seems he'd stay up all night reading about these games. He gets all into it, trying to figure out what move each guy'd make. I've caught up on some sleep. Eating some better food. Trying to get back into a routine. I've thought about getting more organized, paying bills and exercising. But none of that has occurred, yet. Oh, and tomorrow, our new LaZBoy arrives. Yes, exciting.

Ok, more later!

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.