Friday, August 21, 2009

46 xy del 5Q 14.3-14.3

We all probably learned about genes in biology. Some guy named Mendel I think. Something about sweet peas and cross breeding genes. I forgot about it, until Oskar was born and suddenly it became very relevant to me. When I tell people he has a chromosomal deletion, I get a lot of blank stares. A look I am sure i would have had myself two years ago. So here is short tutorial on human genetics as I understand them.

Our DNA is composed of 46 chromosomes. 23 pair. We get one from our dad and one from our mom. So we all have two 1st chromosomes, two second etc. They are the things you might remember from that biology class that look like are little worms. some are short, some are longer. Each chromosome carries a couple hundred genes organized in rows called bands. They are the little bits of information that determine our hair color, our eye color, height, I.Q. They switch off and on in the course of our development and our lifetime and make us who we are.

Every single cell in our body has this DNA in it. Every single cell has all this information in it's center.

In Oskar, ONE of his 5th chromosomes is missing one little line of this information. Band 14.3. 10 genes. Out of 20,000 in his DNA chain. It's amazing to me that this one tiny piece of information, missing on just one of his chromosomes can make such a difference. But it's missing in every single cell of his body and it has made all the difference

It makes you realize what a miracles we all are.

Thursday, August 13, 2009

Stripey: Cat with a problem

The other day we went to Mc Donalds and Maddie got a beany baby in her Happy Meal. A little cat she named Stripey. ( He has stripes, you see) He had a tag attached to him and Maddie opened it up and started reading it out loud . The first sentence was " I'm a cat and that's cool!" Maddie started giggling after she read it and looked over at me and said " It's like he's drunk or something!"

Where does she get this stuff?

Divorce and other natural disasters

Maddie was playing in a dollhouse the other day at her therapists office and all of a sudden she messed up all the furniture and tossed the people all over the house. Kim asked her what happened in the house. Maddie said " there was a tornado". Kim asked her if everyone was okay, to which Maddie replied;" No one knows yet."

I think that sums up the feeling around here. We are all in one piece, but thrown about and waiting to see what will happen next.

P.S. If you see Maddie, don't mention this story, I'm not supposed to know.