1q21.1 Microduplication Syndrome
A blog about an EXTRAORDINARY 3 year old......his CRAZY little sister.. their AWESOME mom... and why I decided it isn't a microduplication, but a 'GENE AMPLIFICATION'!!!
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!!!
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