The Crazy World of Genetics

Well, Henry and Camille survived the Swine Flu! We are so relieved that they appeared to have mild cases, Henry especially. That boy was up to all his old tricks after one dose of Tamiflu. I see now why it is in such high demand--it's apparently magical! Camille took a little longer, but she got over hers pretty fast too. She was even able to make her Ophthalmology, Gastro and lab appointments in Fort Worth on Thursday! I, however, was not. I'm not sure if I had the flu, or if I was just stressed about both of my little ones having it, but either way, I felt like I had been run over by a truck on Thursday and Friday. Good thing I have such an amazing husband, parents, and father-in-law who all pitched in to help Camille get to where she needed to go on Thursday, and treat Henry to several days of fun.

And so now, we just continue to live in limbo in what I like to call "The Crazy World of Genetics". Never been there? I never expected to be there either. All I knew about genetics before Camille's birth came from a course-by-video class I took at TCC the summer after my freshman year in college to fulfill one of my basic science credit requirements. I basically thought genetics was about punnet squares and pea plants. I had no idea it could mean all this.

It is absolutely insane what is out there. There are all of these syndromes that no one has ever heard of, and they can be absolutely devastating. We are seeing this now first-hand. It's a true nightmare. Our genetics team has basically narrowed it down to around 3 (they added one more today that they think it could be) syndromes, and none of them are good. In fact, each one seems worse than the last. It's like we think, "Oh my gosh! What could be worse than that?" and then we find out exactly what that worse thing could be. I guess we should stop asking that question, huh?

You see, as I've mentioned before, the chromosome test coming back normal was a good thing, but also a not-so-good thing. We were glad that Camille did not have a chromosomal syndrome, but now after hearing about the other genetic syndromes she could have (now that chromosomal syndromes have been ruled out), we are almost wishing it was a chromosomal problem.

One of the things that is really hard about these genetic syndromes that they believe Camille could possibly have is that they are inherited in autosomal recessive pattern. Don't worry--I'm not going to draw a punnett square. What autosomal recessive means, though, is that both Jason and I would have to be carriers of the defective gene to have passed the syndrome onto Camille. With each pregnancy, we would have a 75% chance of having a child without the syndrome, and a 25% of having a child with the syndrome. A "good" thing about the chromosomal syndromes is that they are not autosomal recessive. Most of them occur as just random mutations that would be extremely unlikely to occur again in another pregnancy, or in the family later on down the line.

But with the autosomal recessive syndromes, like the ones we are now looking at, we have to come to terms with several things. One, we could not have any more children unless we wanted to risk passing on this syndrome again, and having another child suffer through all that Camille has. Two, Henry could very well be a carrier for the syndrome too, and therefore would need to be concerned about passing the syndrome onto his future children. Three, and this is the crazy one that might sound weird to anyone who hasn't been through this, there is this strange feeling of "fault" or "blame" that Jason and I feel about this. It's as if we feel this certain guilt that we could have passed on something to our child that is making her so miserable. It wasn't a random mutation--we gave it to her. Of course, it was not that we knew about it, or wanted it to happen, but still. The thoughts you have going through something like this are often so irrational, but they're there.

Going along with this, it's interesting how I never dreamed that any of this could happen to us. Maybe that's why I thought genetics was about punnett squares and pea plants--because I ignored all of the rest. I had heard about certain genetic syndromes, but I thought, "There's no way that my children could have something like that." It's like a certain kind of arrogance (sure probably a naivete too, but I think more of an arrogance) that I thought, and I think others think too if they are honest, that there was no way that I could pass something like this onto my child because I have "good genes". There's nothing like that in my family. (The fact is, most of the time that these things happen, there has been no history of it in the family. It's been in the family's genes the whole time, but just never surfaced).

And then there's the fact of these syndromes being so rare. I would think, "Oh that's so rare, that could never happen to me." We've learned that lesson the hard way this past week. Just because it's rare, doesn't mean it can't happen. One of the 3 syndromes they are now looking at is so unbelievably rare that it only affects 50 people in the world.

So that's where we sit now, trying to come to terms with things that we never thought could happen to us, to our sweet child. Things like: severe mental retardation, degeneration to a persistent vegetative state, extremely shortened life span. It's just plain hard. Add to that the fact that Camille is still very irritable and uncomfortable, and you have a pretty dismal situation.

But then you add in a sweet little 2 year old boy, who has learned to wrap his arms around your waist and squeeze you in a big bear hug; who has you in stitches constantly with the things that he says; who adores his baby sister in a way that brings tears to your eyes.

And then you add in the best family and friends in the world, who check on you and love on you and listen to all of your babbling about genetics and autosomal recessive patterns.

And finally, you add in our God, who thankfully is above everything, including the rarest, most horrific-sounding syndromes in the world. And even more thankfully, that amazing God created our Camille in His image. There is no more comforting thought to us right now than that.