Wednesday, January 28, 2009

two extremes

I know I have posted about our Lorenzo before so if you don't want to hear another purge you might want to skip this one (I am writing mostly for myself anyway). Yesterday was report card day and the kids had their 2nd quarter awards ceremony at school. As usual Riley came home with his backpack full of certificates and an impressive report card and Lorenzo... well he came home:) I feel it hard sometimes to focus on how well Riley is doing because it is always shadowed by how "not well" Lorenzo is doing. I try and remind myself of the things Lorenzo has made progress in but then we have a day like yesterday ( 3+hr battle over homework and other things and then he ended up falling asleep in Jeremy's arms as he was talking to him) and it just takes the life right out of me. We are now looking at having to get an autism and behavioral specialist to come and tutor him. I know the potential is in there I just do not know how to access it and it seems like the school is not having any success either.

Sunday, January 25, 2009

Chromosome deletions

We have had a lot of questions about chromosome deletions and thought we would post some very simplified and general info. This is from

Simply put, chromosomes are the structures that hold our genes. Genes are the individual instructions that tell our bodies how to develop and keep our bodies running healthy. In every cell of our body there are 20,000 to 25,000* genes that are located on 46 chromosomes. These 46 chromosomes occur as 23 pairs. We get one of each pair from our mother in the egg, and one of each pair from our father in the sperm. The first 22 pairs are labeled longest to shortest. The last pair are called the sex chromosomes labeled X or Y. Females have two X chromosomes (XX), and males have an X and a Y chromosome (XY). Therefore everyone should have 46 chromosomes in every cell of their body. If a chromosome or piece of a chromosome is missing or duplicated, there are missing or extra genes respectively. When a person has missing or extra information (genes) problems can develop for that individual's health and development. Each chromosomes has a p and q arm; p (petit) is the short arm and q (next letter in the alphabet) is the long arm. Some of the chromosomes like 13, 14, and 15 have very small p arms. When a karyotype is made (see below) the q arm is always put on the bottom and the p on the top. The arms are separated by a region known as the centromere (red in picture), which is a pinched area of the chromosome. The chromosomes need to be stained in order to see them with a microscope. When stained the chromosomes look like strings with light and dark 'bands'. Each chromosome arm is defined further by numbering the bands, the higher the number, the further that area is from the centromere.

A chromosomes deletion is when a part of a chromosome(s) has been deleted. A deletion can occur on any chromosome, at any band, and can be any size (large or small). What a deletion causes depends on how big a piece is missing and what genes are missing in the section (i.e. where the deletion is). Under chromosome analysis the section that is missing can usually be determined. However it is difficult to compare one child with a particular deletion to another with the 'same' deletion.
Remember that looking at the chromosomes is the big picture, like looking at an encyclopedia set from about 10 feet away. We are usually able to detect the deletion. Some are too small to see and other technologies can be used, but it is impossible to say at exactly what spot the deletion started and ended. So one individual might have a few more genes deleted than another individual with the 'same' deletion.

In the above example the area in the blue brackets is not present (deleted) in its pair designated by the red arrow. The other 22 pairs of chromosomes were normal (not shown).

Thursday, January 22, 2009


I have the most amazing friends!!! Thanks to all of your for your phone calls and emails today, it really was a special birthday because of you! The cookies were delicious (again chocolate chip is one of my favorites!!) and I do not even have words to express how yummy the cake was!!! German Chocolate cake is my absolute favorite, and I had a dear friend make me one from scratch all while dealing with sick kids, you are amazing!!!! I am sending a huge hug to all of you!!!!! Thanks for being such wonderful friends!!!

Sunday, January 18, 2009


So in my never ending battle to figure out what to do with my hair I decided to go into the salon and ask them for their advice. They lady (or at least that was what he called himself) suggested I go back to my "natural color" and I said great! I have been tired of the up keep with highlights and have slowly been going back to my "roots" anyway. Well was I in for a surprise when she took off the towel. I know I have somewhat dark hair but not this dark. To make it worse I spent all my extra $$ to get my hair done and Jeremy has vetoed me going back to get it fixed. Oh well I guess I am stuck for a while, maybe it will grow on me.

Friday, January 16, 2009

And the winner is.......

Congratulations Lisa, just shoot me an email with your address so I can get your scentsy plug-in and bar in the mail. As for everyone else stay tuned for next months drawing.

Thursday, January 15, 2009

The Lunch Date Blouse GIVEAWAY!!!!

If you don't already follow grosgrain I am giving it 2 thumbs way up and telling you it is a must to check out!!! This is her first adult give away and it is beautiful. For those of you with little girls her work is amazing you have to check out some of her past giveaways!!!! here's the link...check it out :)The Lunch Date Blouse GIVEAWAY!!!!

Wednesday, January 7, 2009

January Prize Drawing

Ok, so I am going to try something new this month! I am a sucker for drawings and thought it would be fun to do my first ever Sentsy drawing. This month I will be giving away 1 free Dandy White Plug-In and 1 Black Raspberry Vanilla Sentsy Bar. If you want to enter just leave me a comment by January 15th and I will add your name to the jar. My wonderful assistant Riley will pull a name out Jan. 16th and I will post the winner here Jan. 16th. (If you are not familiar with scentsy's AMAZING products you can check them out at or click on the scentsy link on my sidebar) Good luck everyone!!!

Friday, January 2, 2009

Kauai with Cara and Riley

It was so much fun to have my sister here for a few days. Riley was super surprised with his trip to Kauai and we had a blast! If you have not been to Kauai I definitely recommend it. We were able to do some amazing things see some of the most beautiful sites but aside from the dolphin's, Riley (and I would not be being honest if I did not include myself) loved staying up late and listening to Cara and I talk about when we were kids. In fact he was begging and pleading for us to stay up again the following night and talk. It was fun to be able to stay up and just laugh and revisit memories I had not thought about for years, although it provided for some strange dreams.

I took her to the airport last night and have been a little lonely since. I miss her, as I always do when we have to say good bye to our family, but am looking forward to planing our first ever sister reunion in a year or 2 with all of our sisters (well probably just the grown ones).

Here are some pictures, we are all a mess in most of them as we had been snorkeling, but now you know what I REALLY look like :)