Saturday, August 25, 2012

How to contact me...

Well I'm not very blogeriffic. I am very excited my blog shows up on a google search, which is what I wish happened when I first googled the duplication. I posted one picture and that was a complete accident!! I have no idea how to allow people to follow my blog or to email me. My email is 1q21.1microduplication@gmail.com

Genetics and preschool!

I have been waiting months for K's genetics appointment. At first I couldn't wait to go because I wanted the doctor to explain what was wrong with my kid! I now, after lots of research, can't wait for the appointment just to hear his take on it. I an in no way allowing any more tests, and I now think I'm confident enough with everything I've learned to call bull crap. I am so looking forward to seeing of this doctor thinks the same thing, or of he's going to try to run mote tests like K is a lab rat!? K starts preschool the same day. I can't believe I'm choosing to have him late on his first day to listen to someone explaining something that I think is a reDICKulous diagnoses. Did I mention that K now knows the alphabet in correct French too?! So he now knows it in English, Spanish, French and some Chinese!! Yea, this duplication is horrible I tell you, just horrible!!! ;p

Thursday, August 2, 2012

The results

The results are in...................NORMAL!! Everything is normal. He does have a tiny arachnoid cyst behing his left eye, but it is nothing to worry about, and is actually common! I cant and havent wiped the smile off my face!!!!

MRI

So July 31st I am proclaiming as one of the worst days of my life!!! I wake up crackhead early, to get ready for check-in for K's MRI. He was a trooper!! I wake him up at 5:45, and the look he gave me was a "seriously, you f@&king a$$, I am not getting out of this bed. He started to suck his thumb ( which he STILL does... Both my kids do), as he reaches for my elbow.( that's how he had always gotten to sleep, sucking his thumb and rubbing ANYBODY'S elbow. I remember when we went to get the kids pictures taken at the picture people. We were there forever!!! So as we are looking through the photos on the screen with the girl that works there, he started rubbing her elbow!!! So, he doesn't care who's, he doesn't discriminate. White, black, Asian, Hispanic... As long as you have an elbow, he's content!!! So he stretches, and says "mama, good morning, good morning, good morning to youuuuuuu"!!! ( I try to sing that every morning, and now he sings it too!!!). So thank god he's not a big eater, because he wasn't allowed to eat or drink anything until after the test. He didn't ask for anything, so that wasn't a problem at all. ( now my daughter would of been a totally different story. That girl can eat! My almost 2 year old honestly eats more then I do!) So we arrive at 6:20, and check in. The nurses up at children's hospital are awesome! They are so nice,so reassuring, just awesome people. So we have an older nurse who I tell that I've never been this nervous in MY LIFE! she goes over everything with me. She answers all my questions and she makes it seem like she will do everything to watch him and make sure he's ok. She actually promised me she would take care of him and that he will be returned to me in one piece!!! Ahhh, that made me feel better. So she says anesthesia would be in shortly to talk to me and answer any other questions. Well, here he comes. A man, probably my age or a bit older ( I'm 33!!) tall, skinny and insane. The way to describe him is he drank 5 pots of coffee and ran into our room. He talked super fast, and basically had me sign a release form. He then goes and grabs K's hand. The nurse said "wait, we will take his shoes off", and he said " there's no tine, we will do it there". I was in shock. I must of given the nurse a 'this is not how you said it would happen' look, because she said ( mind you my son is screaming his head off because this guy has his hand) "Mom is going to walk him down and stay with him until he's asleep". He let go and K ran to me. I picked him up and we walked down the hall. The rest was so fast. He got taken from me and put on a gurney.Then out of nowhere a woman pops up and immediately has a mask to his face. K is flipping out. The nurse said" here mom, go on the side of the bed and comfort him", and crazy coffee anesthesia guy says, "no, stay there, he's out, he's out". I see K's eyes roll back and he's asleep! WTF, it took a total of 1 minute. The nurse then gives me his shoes and tells me to follow her. I actually bumped into something because I was in a daze. I couldn't believe how fast it went. Now I was to wait... About an hour and a half later a nurse calls me back to recovery. They inform me He did great and he would be sleeping for about a hour. Yea, 5 minutes later he wakes up screaming. He screamed the entire time, but he drank, ate two bags of cookies and we were allowed to leave!!! Never again!!!!!! :)

Sunday, July 29, 2012

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!".

Monday, July 23, 2012

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!!!

Friday, July 20, 2012

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!!!

Thursday, July 19, 2012

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!!

Wednesday, July 18, 2012

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!

Tuesday, July 17, 2012

Somebody Told me...

A very smart lady I know told me this,
"So what if he has this! At least you know he didnt get his speech delay or big head from eating paint chips!" She also told me a story..
"I have a friend that works in a genetics lab. I went to work with her one day and she said that she can do a microarray on me. So she drew my blood and I waited. Nervously I asked "Is there anything wrong?" and she said " Of course there is!"
So moral of the story is : What is a normal? Who is to say that you have something wrong? I do believe and appreciate all the new medical advances we have, but I believe we are looking for problems that aren't even problems!
When they can cure cancer then I will believe!!

What is 1q21.1 microduplication syndrome?

What does 1q21.1 stand for? Well, duh...the 1 stands for chromosome 1, the q is means the chromosomes long arm (there is a short arm of the chromosome as well) and the 21.1 is the section of the chromosomes long arm that the duplication is in. Microduplication is when there are two or three copies of a similar part of the DNA on a particular spot and the Syndrome part... well, I don't agree that it is a syndrome.
  A syndrome is defined by Wikipedia as: a syndrome is the association of several clinically recognizable features, signs (observed by someone other than the patient), symptoms (reported by the patient), phenomena or characteristics that often occur together.I have researched this since we got the labs back, and I have not found any 2 people with the same symptoms! This blog is really some information that I have gathered, plus my own perception of it as it pertains to MY son. (do not read this blog if you expect to hear just  facts only)I have been questioning this diagnoses since we received it.(well, since I have been researching it)
There are apparently only 54 cases worldwide. (Well, genetically registered). So K would be 55.That's crazy right?! Only my kid would try to have something that Millions of people don't have! (IN YOUR FACE!!!). But, my opinion is- 100,000's of people are walking around with this right now and have no clue! They are not getting these fancy smancy chromosome tests because there is no reason to.I could have it, or his dad could have it. (if he got it from me then he will be destined to be awesome, and if he inherited it from his dad, well...hell be OK too!) :p As of right now I don't feel like we need to be tested. I don't feel like encouraging something I don't believe. 
When I first Googled 1q21.1 microduplication syndrome 3 seconds after I got off the phone with his doctor, I found Symptoms: autism/ mental retardation/physical anomalies/dysmorphic facial appearance/large forehead/wide-set eyes and schizophrenia. What!? Is he going to get all those things? Then I found the term Variable expressivity. This term refers to the range of signs and symptoms that can occur in different people with the same genetic condition, from no symptoms, mild or severe.So how is this considered a syndrome when YOU can be walking around right now with it? 
Now don't get me wrong, I also saw that symptoms can also include different ranges of development delay (he does have a speech delay. He talks, just he is suppose to say longer sentences.Another symptom or sign seen in people with this duplication is a bigger head.(YOU GOT US THERE!!).
So what I am trying to say is: Ok, he has a speech delay and a bigger head-Things I knew wayyy before we ever got these results. What am I to do about K's 's 1.195 MB interstitial single copy gain from the 1q21.1 region containing 145 oligonucleotide probes? Well besides figure out what the hell that means, NOTHING that I'm not already doing. He is in Early Intervention for speech, he will go to preschool in September and continue those services, and I keep buying bigger hats!

Why I am Blogging!

I always wanted to start a blog, but what was I going to say? I work, I take care of kids, I sleep! That blog would of been interesting. So on Friday the 13th, (creepy, huh) I got the results back from my sons chromosome panel.....1Q21.1 MICRODUPLICATION SYNDROME! What the hell is that? Of course, I start googling and all I see are posts on how rare this is, and how there is no information. Well, that was it. I was sick. My smart little boy has something wrong with him and there is nothing I can do about it, right? WRONG! I started from scratch. I started at 'what makes up the human body', and learned all about cells,DNA, chromosomes,etc. I went from googling 'define a cell' to reading actually medical journal reports! (now don't get me wrong, some of it is completely foreign to me, but I am understanding alot of it). Any how, the more I learn, the more I am pissed. Now this isnt meant to piss anyone off. I am just talking about my son, and what I think of these results. If I can relieve someone of the shock and absolute terror I experienced the second I heard these results, then I am happy. I also have a bunch of family and friends that keep calling, so I figure this is an easier way to let everyone know whats going on!!
xoxox