Friday, July 29, 2011

Official diagnosis

Wait for it. Wait for it. Wait. Keep waiting. 

Yup, you're in the same boat as us. Officially nobody has a clue what is going on with Rambo genetically. Therefore, we have titled it 'Rambocitis'. You'll see it in the books one day. 

We met with the geneticist yesterday and left with as much information as we came with. Rambo is genetically questionable. I'm not even sure he's a real human. As cool as you might think it is to have something no one else has, let me tell you - it is not that cool. We can definitely say that Rambo is unique to the core. The doctor said that it is not unusual to not have a name for certain genetic problems. However, the fact that so many areas and systems of his body are affected and we still don't know what it is is very unusual. Even his eyes have unique optic nerves. In fact, there is a name for something similar to what he has, but of course he can't have that. No, he has to be just different enough to make it difficult. I guess when we saw the opthamologist last month I should have been clued in when several different doctors wanted to be there when the specialist looked at him. But still, I just assumed it was something rare not something they'd never seen before. His liver is also unique. It has always been large and they could never identify why but it apparently also feels different than other livers of children who have similar heart issues. The geneticist said that he might ask us to be part of a research program but there is no point right now since there is no one to compare him to. They have all the information from him that they can get at this point.

So we are back to square one. Actually, I guess we've never really moved on to square two or three. There will hopefully be a new chromosomal test out within the next year that will possibly give us some answers. I'm not counting on it. And the geneticist feels pretty confident that within 5 years we will have this identified and defined. I'm not counting on that either. He continues to have trouble with his lungs and they don't know why. He continues to get infections. But he is growing and learning. And he literally has the cutest smile in the entire world. So we keep on keepin' on. 

I do have to admit that it might have been nice had his uniqueness not been so thoroughly thorough. But who knows, maybe he will be the key to completing the process of cold fusion. One can always hope.         

Wednesday, July 13, 2011

Three out of four ain't bad.

That's what I keep telling Ben, anyway. "Don't feel bad, Ben. You did your part in the majority of our children. Your good genes just decided to take a break with this one." That way, while getting him to accept full responsibility, I'm also completely uplifting at the same time. :)

Of course there is really no need for anyone to accept responsibility. What kind of a mother do you think I am?? Rambo is perfect and we believe he is exactly as God has made him ready to fulfill whatever plans He has for him. 

The past two weeks have been filled with a whole lot of nothing. Well, okay, I take that back. Only if you consider constant fussing (and by fussing I mean absolute flipping out, crying, someone has taken over this child, leg kicking, not breathing because I'm 'screaming', sweating, body stiffening, overall unhappiness) nothing. And, of course, I do. I know that every child goes through stages like this. But, oh my soul, I'm losing my mind. There are moments when he just wants to be held and rocked and talked to and then there are moments where no one in the world could tell you what he wants. In other words: he's being a baby. I can't take it!! Hahahaha. Don't take this the wrong way but there are times when I long for him to be sedated again. I keep telling myself that if he were a regular baby I'd just strap him to my side and walk around the house with him while I'm doing all the other stuff that needs to be done. I don't think that thought process is very helpful to me.

But on the flip side of that coin, he is so darn cute. It also forces me to spend time with him. Time that would most likely be wasted in doing other things that would cause me to miss out on this stage in his life. He's learning new things each week. He's getting so big.

Videos and pictures to come as soon as I figure out how to use Ben's computer. Which means Ben will have to do it later. But for now, the beast.. uh... I mean Rambo has awoken. So with my vodka spiked highly caffeinated coffee I'm off to be super mom. And by 'super' I mean average.