Genetic Testing...

We saw the geneticist at the hospital yesterday and it was actually a fun appointment - mostly because I find genetics totally fascinating.

As it turns out it was more an appointment for me rather than Arianna. The doctor and I both agreed that doing all the needle pricking on me would be best - they can find out what gene I have and then test Arianna only for that gene (as thats all that would be necessary).

Getting testing for LQTS will be difficult - and I knew it would be. Its very expensive, experimental and there are only two commercial labs that will run the test and they don't always work with insurance companies - they're all for private party pay though, to the tune of $5,000!

I have some very unique physical characteristics, according to the doctor. I have a big head, ok 'above average', according to her. I also have wide spaced eyes and a high palette in my mouth - apparently all identifying characteristics for 'something' (not related to Long Qt, of course). Boy oh boy did my dad have a field day with the 'big head' comments... I'll never live that one down! (I'll admit it is pretty funny)

We got onto an interesting tangent about prematurity though - I explained the prematurity in my family(3 generations). She asked if I had preexlampsia and I said no. I know pre-e can run in families and is an easily identifiable cause of prematurity - but ours were all pre-term labor. She mentioned how some genetic lines actually demand prematurity for various reasons and they actually fare well... maybe thats us? Who knows. Of course, I don't want to put that theory to the test if we have another baby...

She called me today, while I was at work, to let me know of her progress finding a lab to do the testing. She reiterated the big head/wide spaced eyes comment. They're going to test me for Andersen-Tawil Syndrome. I already know I don't have it but at least it leaves one gene off the hook. After that testing she doesn't think we'll be able to test for the other genes, unfortunately. That doesn't sit well with me, but its all I can do right now. I hope another trial opens up at a medical school SOMEWHERE soon. I missed the trials at the mayo clinic and university of rochester in 1999 and 2002 because at that time I had my defibrillator and didn't really feel like dealing with getting blood drawn as I'm SO bad for it... I regret that decision now. In hind sight I wish I would have known how rare these trials are.

Now you've all seen my picture, it's on the right hand side of my blog. Do I look like I have a big head or wide spaced eyes? Its really bugging me for some reason.

Some Scrapbooking pages....

Thought I'd share some scrapbooking pages I completed during my marathon session a few weeks ago.

If you click on the pictures they get bigger. My new camera is on its way, so please excuse the crappy pictures and flash glare...

Freedom!

I think I heard a large crowd of applause when it was out... wierd huh?

To say I'm scared/nervous/happy/excited all in one... would be an understatment!

Clicking on the picture will explain more

This makes no sense...

Its only day 2 on Prevacid, much too early to see a difference, right?

The last two days Arianna has been eating noticeably better and much more happy and social!

I am very happy but also very mad that her pediatrician gave us such a run around trying to put her on Prevacid. It's obvious the Axid was doing close to NOTHING for her if after only 2 days on something new she is so much better!

Appointment with GI

Yesterday Arianna had her appointment with her GI Doctor. He's really a nice guy, I like working with him so much more than her pediatrician - I think we're going to try finding a new pediatrician for her.

I called the pediatricians office on Friday, faxed over the most up to date list on the drugs folks with Long QT can't take and then spoke with him - told him I wanted to try her on prevacid. His exact words: "So, you want me to hang my neck out to dry if she has a negative reaction to a medication? She'll need the GI folks to do that, I'm not going to do it". I've found his bluntness to be 'refreshing' in the past but this comment was the last, I think. I don't believe he has handled Arianna's failure to thrive seriously enough. My mother has met him on one of Arianna's many hospitalizations and even she is very happy to hear we will try someone new.

Anyway, she's got Prevacid now - we gave her her first dose this morning. We're to continue to fortify all her foods with extra calories (butter, oil, cream, anything high calorie) and continue with the pediasure. She drinks two cans a day and then we give her another sippy cup of regular milk. He was surprised that she only drinks 2. I had to chuckle. When Arianna was breastfeed (via bottle, I pumped for 13 months) I used to freak out because all the books said she should be having 30 oz. a day and we were struggling to break 20 oz. She's not thirsty I guess - I don't drink alot of liquids during the day if I don't force myself either.

We go back in a month - if she doesn't gain weight (or an appropriate amount) we're going to be enrolled in the feeding clinic... I hope we don't have to go that route, I have no clue how we're going to be able to do it with me working full time, but we'll cross that bridge when it comes.

So all in all, good news.

Not a good mommy day...

Arianna is having a bad few days eating. Today she had 4 oz. of yogurt, 2 bites of a grilled cheese, 2 bites of a pancake, 2 bites of a cookie, 2 spoonfuls of icecream/bananas and 1/4 of a cheese stick... Maybe 300 calories. Then she had about a can of pediasure, adding 237 calories for ~537 calories total.

She's supposed to have over 1000 calories a day. She's not looking good either.

I'm so sad, I actually cried at dinner while trying to get her to eat ice cream - she has me very frustrated, anxious, sad and worried.

Shawn and I disagree on the extent of how dangerous/serious this is and had a HUGE fight that left even Arianna screaming from the other room. Having a sick child isn't good for a relationship, especially when they disagree.

I think its her reflux, getting worse. We can't change her to a different medicine until after her genetic testing is complete. We see the geneticist in a week and 4 - 6 weeks for the testing results. That means December before she starts eating? She's not on the charts anymore and we really can't afford to wait that long. I'm so frustrated and scared for her...

And I hate hate hate hate hate it when I hear other people comment about how small she is or how little she eats. YES, I KNOW SHE ONLY EATS ENOUGH TO KEEP A MOUSE ALIVE, I DON'T NEED TO BE REMINDED OF HOW SHE DOESN'T MATCH UP TO HER PEERS, THANKYOUVERYMUCH.

Vacation time!

So... I spent the last of the 'skydiving equipment sale' money...

On a cruise!!

We leave on March 16th, just after her birthday. Shawn's mother and her boyfriend are joining us too - it'll be a big family affair. The best part? Since his mother AND her boyfriend are both ex-military we got a big discount on the fare! Shawn and I paid for the boat and we're hoping his mom and her boyfriend will pay for the airfare to Miami for all of us.

I'm looking forward to a vacation - we have never had a vacation this extravagant before and I feel very fortunate to be able to go!

Carnival even has Camp Carnival for ages 2 - 5 so Arianna will have other children to play with and the rest of us will have some actual 'vacation time'.

Sounds like the best for everyone - but if it actually works out that way remains to be seen, of course...

They're home!!!

I was so excited to drive to the airport to pick them up last night!

I waited at the exit and watched as Shawn entered the glass elevator pulling Ari's car seat behind him. I motioned for him to turn it around and watched as the elevator came down and watched Arianna's face when she saw me. Pure puzzlement! I almost didn't recognize her - she'd only been gone a week! She looked so much older/tired/hungry and dirty... what a hard day of traveling for them!

I had dinner preped and on the stove so I got her inside, turned on the stove and hurried her back to her room to change her out of her clothes and put on a new diaper. I nibbled on her tummy and she squealed. Took off her clothes, sat her up and brought the onsie to her head.

Stop right there!

She's thinner... alot thinner it seems. I can see every nitch in her spine and her ribs. Shawn said she ate well during the trip. I made pasta with cheese and a jar of baby food for her dinner and she didn't touch much of it. She was in bed at 9 PM and the nanny just sent me an email (as of 10 AM) that she was still sleeping.

She's very happy to be home and I'm very happy to have her home - I missed her so badly!

I think I'm going to arrange for Sarah to take her to her pediatricians office this week for a weight check...

What a lovely website

The shape of a mother

Seriously, I think I cried looking at the pictures.

I don't feel so bad - I sort of feel 'normal'...

I.N.E.E.D.A.L.I.F.E.

If I told my friends what I did this weekend they would look at me like I had two heads and then ask me if I need something to do.

I've been holed up in my basement.

I'm so desperate to finish all 43 layouts that I haven't done much else. Last night I drove into South Boston to visit my friend Karen and some other friends and we all went to a bar nearby to watch the RedSox game. I was tired by the time the 8th inning came around (midnight) and still had to drive over an hour home... so it wasn't my idea of fun, but it was something to do and I kind of enjoyed having some actual 'adult beverages'.

Otherwise I've been hacking away at these layouts and dealing with this really slow computer preventing me from finishing in time... but I should get it done, and then I'll have to show you!

I have a secret side...

... that I don't talk about here, and I'm not sure why. I've mentioned it before, but I scrapbook.

What I didn't delve into was just how much of a fanatic I am.

I'm back in full swing. We got our basement re-carpetted and now I have my scrapbooking room back together. I have enough 'crap' (as hubby puts it) to rival alot of scrapbooking stores. Prior to skydiving and having a baby I was a super spend-a-holic when it came to scrapbooking supplies - you name I have it, probably two of them. Need a rubber stamp? Oh god... don't even go there. I have almost an entire wall dedicated to it. I have two huge paper racks and receive more every month thanks to a paper club I belong to... I don't have to buy paper ever again (you think I'm lying?!)

Baby came along, along with some serious depression related to that, and I didn't scrap A THING for almost two years (yet I continued my monthly scrapbook related clubs so I had stuff pouring in!). In that time I had bought a blue wishblade machine. Well earlier this year I finally got back into it and pulled out the wishblade again. Well, thats been it - the bug bit hard.

I'm now the most downloaded member at www.mydiecuts.com. I spend WAY too much time in front of the comptuer (yes, a dedicated one ONLY for scrapbooking) designing files for computerized cutting machines. I've been offered jobs on design teams to design files for them but I've turned them down because I don't want to turn my hobby into a job - I like giving away my files for free, despite spending SO much time on them.

Since March I have scrapbooked over 200 pages and done 3 'topic' albums. I got to crops once a month and usually do an entire album worth of pages - I'm a obsessive planner so when I get to the crop I basicly just put together all the pages I've already planned out a month ahead of time.

Add to that the fact that I just got a Klic n Kut Element die cutting machine and I'm hooked (and before you think I'm out of control, I got ALOT of money for selling my skydiving equipment... yes we still have $16k in debt to pay off but we're not as 'gazelle' about it anymore, its just our cars). I'm selling my wishblade on eBay this week and will be buying a Canon Rebel XTi digital camera... Shawn better be scared, heck the cats and Arianna better be scared too! I won't go ANYWHERE without big bulky, totally awesome, digital camera in tow!

So... what am I doing this week while Arianna and Shawn are gone? I'm doing a scrapbooking marathon. I have 35 projects planned. I do my projects in 2 steps:

• Step 1: Plan pages, sketch, colors etc.
• Step 2: Create cutting files for all my pages, cut them, journal (usually on computer) and put all together.

5 pages more tonight. It would have been more but my parents invited me to their place for dinner and well... I don't cook when its only me and I wasn't going to turn down homemade baked macaroni and cheese! I drove over there after work and my parents were in the middle of discovering that their 30 year old stove has died... so we ordered pizza. Thats what I had the night before when it was just me!

So far I have Step 1 done for 10 projects. I gotta get crankin'

Yes, I'm odd...

She's gone...

I dropped them off at the airport this afternoon...

Shawn called and said she slept the entire ride to DC, waking up only after they landed.

3 hour lay over in DC, then on to Phoenix and then to Fresno (sucky huh?).

I miss her. :-(

I need a hug!

Where did baby go?

She leaves tomorrow for a whole week - off to Fresno, CA to visit Grandma with Dad.

I'm excited she'll get spoiled by grandma and I'm excited Shawn gets to go home and visit friends (his high school reunion is this weekend)... but what am I going to do?

Who am I going to kiss while she's sleeping, just before I go to bed? Who do I get to come home to and get big squeals and baby laughter?

I miss her already and she's still here...

So What's Worse?

Going to CVS Pharmacy at 2 AM...

Or Going because you have a raging UTI and need AZO, like, yesterday?

I haven't had one of these since before I was pregnant - when I got them ALL the time...

I don't miss them.

Got some Cipro - its made me sick to my stomach and I feel like crap.

But AZO is making it so I don't keel over in agony... so there is a bright side, I guess.

She's in trouble now!

Arianna is in so much trouble now!

How to make a little girl cute

Hubby said "No way!"

I said: "I had a little girl so I could torture her with cuteness… you can’t take that away from me, that’s my ‘mom of a daughter’ right!!!!"


I won. Headed to Michaels this weekend to stock up! WOo HoO!

Frame me!

I haven't purchased new frames in years... seriously.

I put too much money in my health care flex account this year so I decided to upgrade to use up the money.

They're Vera Bradley's! I don't think I've ever spent this much money on glasses before but they're super cute!

I'm looking into getting some prescription sunglasses too - I'm loving the Jill Stewart lines. Gosh, glasses have come A LONG way since I was a little kid, they're actually really cute now!

How anti-climactic...

Today, at work, I finished a project I've worked on for the last 3 years.

I was begining to really hate this program, it seemed like I was doing the same thing in many different areas only each time was just different enough to mean I had to write the code over again. But today I finished the last part.

One of my coworkers left last Friday for a new job and the two of us had worked very closely on this project and now that she is gone I was the only one left working on it - and now thats it's done, its so anti-climactic.

I feel like I need to have a party or something... but instead I'll just get another project, which is just as good, I suppose.