Monday, March 30, 2009

P's and Q's

So as I wrote last week, it was extremely emotional. From all of Lucas' stuff and Joshua being, well, 3. Anyway, all of that emotion is gone, thankfully. But in the midst of it all there is always something good. As I reminisced about last years happenings, I started delving in to the wonderful world of chromosomes. Now I failed high school biology. I hate it. I don't get it. I just don't understand how it all works. I am happy in my ignorance. Until I need to know something, that is. So as I am trying to understand chromosomes, I realize not many people 'get it' either. So here is my quickie Rachel-ized version. As always there must be an understanding that I could be wrong and I am always easy to admit that.

There are 23 chromosomes. 2 of each. Totally 46. There are some long ones and some short ones. Ok, that's all important stuff. Now each chromosome has pieces that are all numbered. I think up to 34. The short ones are numbered to less.

Following so far?

So now, you can have deleted parts of chromosomes, some that are extra, and some that even get twisted into circles. Crazy, I know.

Its totally confusing. I know. I am still confused a bit.

So now let me explain Lucas' chromosomes. He has what is called an unbalanced translocation of 13q and extra material of 20p. Ok so I didn't explain the p's and q's. So each part of the chromosome is split into 2 parts. The top is p and the bottom is q. Not sure why, just go with it.

The unbalanced part is that its not even. So if the missing piece of 13 was swapped out with 20, that would be a balanced translocation. So if Josh or I were carriers, we would have that. There would be nothing wrong because we have all of 'our parts'. We chose not to get tested. We believed that this was a random thing. If Lucas were our first baby and we wanted more, we might chose to get tested. But because we have a healthy 3 year old, we chose not to.

Ok, so there are people out there with deleted 13's and there are people out there with extra 20's. But to put those 2 together there is only one ever known case of that. The more that I get into this 'world', I am realizing that this is such the case with so many kids. Knowing the exact diagnosis doesn't really tell you much sometimes. There are syndromes and others out there, but then there are cases like ours where its almost impossible to know. They have a list of symptoms of certain chromosomes, but you could have 1 or all of them. Its a very big box.

So that's what I've got so far.

In other news I could not be prouder of my Lucas. Seriously. He is making the most amazing progress its just incredible. He started eating solids like a little champ. In these last few weeks he's starting opening his mouth to eat! That may sound like a little tiny thing, but for the baby who had this oral aversion to things, opening his mouth to food is crazy!! He's still not into sweets, but its ok. He'll learn. LOL. So we tried peas Saturday and I think they made him gassy. So we'll skip that next time. His little tummy can't take the extra issues with that. And rice cereal makes him gag. Not sure about that one either.

So that is my bragging moment. I am so thrilled for my baby! We have a vision appointment Wednesday that I am excited about. I am really curious about his right eye. I think that there is something wrong with it, and I am hoping we can get it 'fixed'. I really really like this DR and I know he'll have some advice. We have audiology next week and I am excited to prove them wrong. Is that weird to be excited about that? Either way, I am. Ha. There may be an impairment, but not a significant one that is for sure. This kid wakes up to me making the tiniest noises, in the other room. So I am doubtful they'll me telling me the same news this time around.

1 comment:

Rebekah Moore said...

i think u did a fine job explaining the chromosomes! (i got an A in biology btw, course i don't remember any of it haha!) that's great that lucas can wake up to ur sounds! that's an improvement right? prove the drs wrong, lil man! tell em u can hear momma just fine!
i LOVE ur pic of joshua in the kitchen with his lil apron on, acting like he knows how to even use a whisk haha! adorable!!