My nerves

Well the 31st is approaching fast. We have to arrive at Children's hospital at 5:30am, and I am SICK! I cannot wait for this test to be over. I had already told K's pediatrician that this is the very LAST test we are doing! (my exact words were "even if he grows a 3rd arm, we are not testing it!".

Me... Low key?!?

Well, low key is obviously not in my genes. I've been researching about the 1Q any spare moment I have. So I've been employeed at the same company for, uhhh 8+ years. So, between researching, working, and being awesome a girls gotta eat, right. So I told one of my coworkers on Sunday that I was starving. (yes, dramatic me who could lose a few pounds is STARVING) He says "well, eat something"!! I replied with "I frickin sick of spending money, I'll wait until I get home". I'll estimate 3 minutes went past before I open my desk drawer. I find tuna packets, olive oil mayo, 12 bottles of water and 100 calorie popcorn. SCORE... popcorn!!! So I throw the popcorn in the microwave for 2minutes, 22 seconds. I proceed to go outside, where I join 2 coworkers and I have a cigarette. I'd say 1 minutes passes before I hear the radio say evacuate the building. I just knew... As I see a duck being carried to safety, I knew.... IT WAS MY POPCORN!!! building evacuated, alarms blaring, 3 firetrucks... I was hungry!!!! Never again will I pop popcorn... Never, EVER!!! I've heard every joke 3x's!!! Sorry birdies!!!

ENT follow up!!!

About a month ago we went to the ENT for K's drooling. That was one step in the mission of 'ruling everything out'. Well at the time the Dr. had said that K had a severe sinus infection, which can be the source of his drooling. We were on 20 days of antibiotics and nasal spray and were to come back for a xray. Well, since the 20 days ( plus a few extra days because you have a better chance of having an extra chromosome on your 21.1 then getting an appropriately scheduled appointment) we got in to see the ENT today. I had informed Dr. C that his drooling had stopped during the 20 day course, but had recently started again. ( very minimally). We had our xray and I am proud to say "his adenoids and tonsils are fine!!!" The Dr. even went as far to say, "Tiffany, he's in speech right?" I of course informed her he is, and has been since around 13 months and she said " you do realize he IS 2, right"?? "You say he has a speech delay, which after hearing him talk to me and the nurses I'm not completely sold on, he will come around. His muscles are not strong, and they will become strong over time". Some tricks to strengthen his muscles were shared with me today. Yes, I'm doing the straw tip, were practicing with bubbles and whistles. We are reminding K to wipe his own mouth. Oh, but I'll be saving the bubble gum tip for another time Doc. (K's dentist will just LOVE that tip)What about smoke rings?!? Let's stick a Marlboro in his mouth and get those muscles stronger!!! Another example of a mountain meeting a mole hill!!!

MRI.. BirFday & preschool!!!

So we have lots of things coming up. We go for our MRI on the 31st, we got a 3rd birFday to celebrate then we start preschool. ( yes, WE start preschool... Because I'm sure I won't be able to leave.) My little boy, with a bookbag, fresh new Nike's, going to real school. :'( So yesterday I got a call from preschool. They were calling to make sure we still wanted K to go into the reverse inclusion class. Reverse inclusion is a classroom that will have the same ciriculum as the mainstream class, the same amount of kids. The class will have 10 kids like K with a speech delay, and 10 kids without delays. Again, we had decided on this class to help his speech way before this chromosome crap. So my baby will be a legit student. How frickin adorably sickening is that?!? Boohoo I keep hearing how wonderful his teacher is. I can't wait to meet her. I can't wait to see if he has a desk. I can't wait until I can pick him up on his first day, because I'm predicting I will be doing nothing but crying!! It's 5 days a week, 6 hours a day!!! Damn! Until then.... Deep breaths!!

Our bodies are made up of billions of cells. Most of the cells contain a set of around 20,000 genes. Genes act like instructions, directing our growth and development and how our bodies work. Genes are carried on
structures called chromosomes. There are usually 46 chromosomes, 23 inherited from our mother and 23 inherited from our father, so we have two sets of 23 chromosomes in ‘pairs’. Apart from two sex
chromosomes (two Xs for a girl and an X and a Y for a boy) the chromosomes are numbered 1 to 22. Chromosome 1 is the largest chromosome. Each chromosome has a short arm and along arm.
Chromosomes can’t be seen, but if they are stained and magnified under a microscope, each one has a distinctive pattern of light and dark bands. In a 1q21.1 microduplication, the chromosome has broken in two places in band q21.1, and a tiny amount of chromosome material between them is repeated.Looking at chromosomes under a microscope, one can sometimes see where the chromosome has broken. With an extra piece (a duplication) that is large enough, one can sometimes see the pattern of bands that
help to show how big it is.But with a microduplication, the extra piece is so tiny that you can’t see it under even the highest-powered microscope. Only molecular, DNA technology can identify it. The most common technique is known as microarrays. This shows gains and losses of tiny amounts of DNA throughout the chromosomes. Microarrays can show whether particular genes or bits of genes are present once, twice three times or not at all.

Normal genetic variation?
1q21.1 microduplications are found in the general population as well as in people referred for chromosome testing. At first they were thought to be part of the normal genetic variation between individuals. However, they are more common in people referred for genetic testing and they
are now thought to raise susceptibility to a range of developmental problems.

I had no problems while pregnant, and besides 33.5 hours of labor, he was here...perfect. He always was on the large range with everything. Although he was born at 7.7, he has always been in the 95th-100% in height, weight and head circumference. Killian has always been a little delayed in his milestones, but always got it before we would start to worry. He wasn't the last kid to do some, but certainly wasn't the first. (I was on baby center so I am comparing to all the August 2009 kids from that board). He had a lot of ear infections, slight eczema, weather changes cause breathing issues (which I had too throughout my childhood). We got tubes in December 2011. He had maybe 2 ear infections after that. So we called and got him into early intervention, and he has been in that for about 2 years. His therapist comes once a week to do his speech therapy, and he is doing great. (The only problem is that he doesn't have a ton of longer sentences) He is really smart though. He knows all his colors/shapes/alphabet/numbers. He can say most of the alphabet, some colors and some words correctly in two other languages (Spanish and Chinese. We are neither Spanish nor Chinese) He can draw like you wouldn't believe. I will have to show you a video but I have been told that he can draw better that some 6 year olds. He can write almost all of his letters, he can draw all kinds of shapes, robots,rainbows, etc.

His pediatrician ordered  blood work and an MRI because his head size ( which has been growing at a steady pace. He is in the 100th % for height and weight, so I'm not quite sure why they think he should have a small head) and because of drooling. He doesnt drool all the time, but when he does its excessive. We had also gone to the ENT to discuss the drooling and she said that he had a sinus infection that has been going on for quite a while, and put us on antibiotics and nasal spray for 20 days. We go back on Friday to get an xray of his adenoids and tonsils, but the drooling has STOPPED! Our last test is an MRI at the end of the month, and speak to genetics about his results.

I am at the point that I dont believe in it. Yes, maybe this is the cause of him needing an extra push, but to be called a syndrome...Not sure! I have yet to see any substantial evidence. Seriously, I think he must of gotten the cute chromosome duplicated!