Friday, March 2, 2012

And We Have an Answer


Arabella has been through a slew of tests recently because her new pediatrician in Maryland was still wary of the events in Arabella’s life all just being a coincidence.  Bella has had feeding issues, short stature, and physical development issues.  Now, she’s fine.  Tiny, but fine.  However, our pediatrician still thought it was worth having a little bit of genetic testing done.  I’ve always been grateful for having cautious doctors who recommend further treatment or investigation and I wasn’t about to stop that trend now. 

We went to Johns Hopkins and had some testing done after our initial meeting with the geneticists.  Bella had vials of blood drawn, a full body of x-rays, an ultrasound of her abdomen and all of the organs in that area, another set of x-rays, and an echocardiogram performed.  What did the doctors find?

X-rays: normal, with a bone age of 3 (2 standard deviations from normal which is in a normal range)
Ultrasound: normal.  All of her organs are in the right place and the right size and shape.
Echocardiogram: Normal…mostly.  Each person has three valves that stem from the aorta for blood flow, but Bella has two that look partial fused together.  I’m not really sure about this.  We will find out a lot more at our follow up visit.
Blood work: Body parts are functioning normal, BUT, Bella’s chromosomes are different from a normal girl’s chromosomes.

This week we found out what Bella may or may not have: Turner syndrome.  Syndrome is a scary word, but it doesn’t have to be.  All syndrome means is that there is a set of symptoms that are common to a particular condition.  Turner syndrome has a set of characteristics that apply to the girls who have it.  These girls may have some or all of the characteristics and the characteristics may be mild or more obvious.  Bella has been fortunate enough to have very few and very mild characteristics thus far.  In fact, the characteristics are mild enough in her that the doctors of the genetics clinic want to take one more vial of blood to look at her chromosomes more closely to be completely sure of what they are diagnosing. 

Turner’s is something that occurs only in women and is becoming more common in the sense that more and more doctors know what to look for in a patient.  To give you an idea, here are some facts:
  • TS affects 1/ 2,500 live female births.
  • There are over 71,000 women and girls living with TS across the United States.  Over 300,000,000 people live in the US.
  • It is estimated that only about 1% of fetuses with only one X chromosome survive to term and that approximately 10% of all miscarriages are due to Turner syndrome.
  • Diagnosis of Turner syndrome is confirmed by a blood test called a karyotype, which analyzes the chromosomal composition of the individual.
What does our future hold with this diagnosis?  Well, initially it just means monitoring and more doctor visits.  Bella will now have a cardiologist, as heart problems are common in Turner patients, and an endocrinologist, because of growth is always an issue for Turner patients.  Other parts of her body will be more closely looked at during checkups (some yearly, some not).  When she comes to the typical age of puberty, we will discuss how we want to add estrogen to her hormone regiment.  There is a very small chance she will go through puberty like normal, but it is unlikely.  The real question will be when to start estrogen, as it is an essential hormone to a woman’s body.  As she reaches adulthood, she will have to decide how she feels about having children and what she is willing to go through to have a child. 

Things are going to be complicated, but completely manageable.  Am I happy to have this diagnosis?  Once we have verified it, yes and no.  I am happy to find out  what’s going on and to be able to have a plan, but there are some aspects of this syndrome that are sad to think about.  For now, we’ll continue to live life as normally as we had before.  If we didn’t tell anyone Bella has Turner syndrome, I’m pretty certain no one would know the difference.  She’s happy and healthy and I can’t ask for anything more. 

It's been a long week

It has been a miserable week.  A very close friend has her son in the hospital and he's been in a hospital since he was born almost 3 months ago.  His future is very unclear right now and it's very heartbreaking to watch her go through all of this.  She has an amazing support system, which I am so grateful that she does, but I know these past months have not been easy for her.  She and her family are always in my thoughts and I just want to see them happy again. 

Also, this week we found out a possibility for what's been going on with Bella.  It is most likely the diagnosis we will get, but the doctors are going to take one more vial of blood to examine more closely.  They want to be 100% sure of what they are diagnosing before we meet again and talk about what we will do next.  For more information on that, move on to the next post.

Change

Recently, I talked with a good friend about our kids leaving the baby stage and entering the next phase of life.  This is the time when many women (and men, even) consider having another kid.  Even those of us how prefer the toddler stage miss things about having a newborn or little infant. 

I don't particularly miss the helplessness that a newborn has while learning how to move and eat and do everything else besides lying there, making noise, and pooping.  However, when that goes out the window, the cuddles and dependency often does, too.  My kids are that type, no doubt.  Bella cherishes her independence and wants to do everything on her own.  Jude is making his way there. 

So, I can see that I probably would have gone through massive baby fever around this time with Bella, but I ended up not missing a beat.  Jude was here by the time Bella started running away from me.  Now that Jude is hitting that phase, I have a much appreciated calm about the situation.  These will never stop needing me. I know that.  I love that.  They will get older, though, and do more and more on their own and need me for different things.  My role as mommy will always be changing and I'm ready to fill that role in whatever way I can. 

For now, the mommy in me is very settled into this phase of life.  I don't have the baby fever that other parents might when their first is moving past being a baby and becoming a toddler.  Will I ever be in that phase again?  I don't know.  Things are always changing here and plans to have another child (no matter what I might want them to look like) will change, too.  Right now, it's all about appreciating what I have and the life I've been given.  I try to spend a little time everyday thinking about that, because you never know when your life will change, for better or for worse.

Friday, January 13, 2012

One A Month: 7 months to 1 year

Part 2 of Jude's first year.  Here we go!

August 2011

Jude is beginning to pull up on things, gets his second tooth, and has his first move (to MD).



 September 2011

Jude is becoming interested in books, goes to his first carnival, and is cruising around all the furniture.

October 2011

Jude begins to imitate sounds, goes trick or treating for the first time, gets 4 more teeth, and celebrates his sister's second birthday.

















November 2011

Jude eats his first big meal at Thanksgiving.

















December 2011

Jude celebrates his first Christmas, begins to say words (yeah, dada, baba in context), starts to stand alone.

















January 2012

Jude is beginning to walk!  Jude moves into his first new house (well, our house) and celebrates his first birthday (next week!!!).

One A Month: Birth through 6 months

We have one more week of Jude being our official baby.  Then he'll be one and officially be a toddler.  He's begun to walk just a bit, but still isn't set on doing so full time, so we'll still classify him as our baby for now :).

In honor of this coming occasion, I'm taking a look back at our little man's first year (part 1).

January 2011

Jude's biggest first: Birth!






Here he is at 4 days old.










 February 2011

Jude's first outing to church and over to Mimi's house (my mommy).  First bath in a tub.
March 2011

Jude has his first smile, is sleeping through the night, and grasping objects.











April 2011

Jude is rolling over (back to tummy), mini push-ups, passing a toy from one hand to the other.

















May 2011

Jude is rolling both ways, got baptized, eating rice cereal and veggies (baby food), taking his first road trip (to Tulsa).
June 2011

Jude is rolling to get somewhere, holding his bottle, eats fruit (baby food), finds his toes, army crawls, gets up to his hands and knees then rock back and forth.
July 2011

Jude is drinking from a cup, sitting up on his own, crawling, getting his first tooth!

Tuesday, November 29, 2011

Life Update: November edition

Wow I've been lazy this year.  At least, when it comes to this blog.  I have around a third of the posts I did last year.  Now that the year is coming to a close, I figured another post is in order. 

We finally sold our house.  For the next two months, I will be able to look at our bank account and see "paid in full".  It's a great feeling, until you realize that I'm going to have another mortgage starting in March.  Hmmm, oh well.  It's worth it to have a place that's our own.  I'm getting more and more excited about it by the day.  We have a pre-drywall appointment on Thursday to see the inside of the house and where everything will be.  Getting a new house allows you these funny little experiences.  You don't get to see underneath the drywall in an older home, unless you do some heft renovations. 

Aside from all of our housing plans finally working out, I've been thinking a lot about babies recently.  So many new little ones have been entering our world and it's such an exciting time.  Things have finally slowed down a bit, as the last baby due of those I know is due in February.  I think we may have a lull coming for a year or so :).  After all, not too many people want to have babies back to back. 

It's strange to think that I had a newborn at this time two years ago and was 7 months pregnant this time one year ago.  Then I take a step back and realize how fast that went and that now is the time to enjoy the lovely chaos in my life.  After having two for a while, I know I'd love to have more kids (especially after meeting an amazing mother of five, whom I work with).  However, I know I'd love for both of my kids to be cognizant of a pregnancy if we have another baby.  I'd love them to be able to talk to us about it and, if I'm really lucky, have them help out with a new baby once in a while. I think that would be so cool.  But, hey, we all have dreams that don't always work out the way we planned, so we'll see if my little dream happens as such.

In the meantime, it's also hard to believe that Jude's closing in on his first birthday.  Unlike with Arabella, that happened fast.  He's huge and extremely active and mischievous.  He can hold his own while playing with Arabella.  Aside from walking and talking, he's so much like his sister.  They both love to play and dance and that's what we do all day long.  I look forward to him beginning to walk and talk next.  I'd say learning, but I think he knows how to do both and just chooses not to.  It wouldn't surprise me if he is headstrong like that.  Amidst that, I look forward to planning a mini-first birthday for him and seeing him slam into an awesome mini-cake.  You should know, that is always the best part of a first birthday.  If there's no mess, then how do you know you've had fun?

Monday, November 14, 2011

For My Kid's Rooms

I'm getting really psyched about our new house now.  The biggest reason, aside from it being ours and not a 30 year old creaky, paper thin walled apartment, is that I get to decorate two kid's rooms.  SO EXCITED!

Just for kicks, here are some of the ideas I've been throwing around.  For Arabella's room, we'll be going with a Disney Fairies theme.  That's easy enough.  I'm not too worried about her outgrowing this in 5 years.  The base of her room will most likely be a sage green and everything else will be able to be replaced easily.  She already has the fairies bedding, so here's what we're looking at getting her next:




Wall decals, a kid's chair, a lamp.  She already has a white bed and dresser.  It's all coming together in my head where everything should go.  We'll see if it all actually happens when we get there.

As for Jude, I'm finally proud to say I have a clear view of what I'd like to do with his room.  I played with the idea of a solar system room, but it has evolved into a specific them: Star Wars.  Steve has mentioned this many times before but I wasn't on board.  I wanted to be sure I could find things that don't look super cheesy or expected.  I wanted Jude's room to be cool.  Now, I've found some really neat items that I think can accomplish my goal.  Here's a look at the items for Jude's potential room:

Toddler Bedding:

Absolutely necessary quotes:
Vader clock:
The wall lightsaber:


Movie poster:

There's quite a bit out there that will be cool without us over doing it.  Then there's the thing we really want, but most likely won't get:

That would probably be overkill....but it really is awesome.  If we are so lucky to get most of this done soon after we move, I'll be able to get some good pictures up of both rooms.  I'm hoping we can get everything I'd like and that everything will come together nicely.  We'll soon find out!

Saturday, October 29, 2011

Sooner or Later

SO, we were supposed to close on Thursday this last week.  Now did that happen?  No.  Of course not.  That would be far too easy.  Now we have a leaky roof to have patched up and then we might possible have our closing scheduled.  I wouldn't be so infuriated if this wasn't the buyer's lender's fault.  We did everything we're supposed to do, but their laziness has cost us more money.  I can safely say that I would prefer not having to sell a house again for a very long time.  I know we will, but it doesn't have to be anytime soon. 

On the other front, we have completed another step in buying our house.  We went to a pre-wiring meeting and to the design center to pick a few things out for the house.  That was fun, so to speak.  It's neat to pick out some colors and where your wiring will go, but it isn't like going to on a dinner/movie date.  Hopefully, this week Steve will have the pre-construction meeting to get a tentative timeline on how things will pan our for our new home.  As of right now, the frame for the first level is in and we're well on our way to having a brand new townhouse.

It's been stressful to move.  However, there are so many great things that wait for us here.  We just have to get over this hurdle and things will start to ease again and we'll be able to relax and enjoy life. 

Thursday, October 20, 2011

Happy Birthday Arabella!

Today is a great day.  Two years ago, I gave birth to my sweet girl.  It really is hard to believe on some level.  I feel like it's been two years, but that's mostly because it's been a long road.  We've never had any major, life altering problems with her, but many things have taken quite a bit of work.  However, what child ISN'T worth all of your strength and energy for years to come?  Not one! 

Arabella is my petite ballerina.  She's just a sliver bigger than her brother, she has more energy than five toddlers, and she's smarter than Steve and I combined.  She hates new foods only to love them three months later.  She still wants her bottles, because, damn it, Jude has one too!  She sings everything she can remember and she shakes her booty while she does it.  She kisses her family and tells us she loves us.  She's everything I've ever wanted in life and more.  And right now, she's throwing apples on the floor :).

Happy 2nd Birthday, Arabella Nicole!

Saturday, October 1, 2011

Worst Waiting Game Ever

We sold our house.  That's definitely exciting.  HOWEVER...now we begin one of the most miserable waiting games in the history of mankind.  To sell your house, you actually have to close on it to finish the deal.  That will not happen for another 30 days (actually, October 27th for us). 

There's a number of things that can go wrong in the meantime that can cause the contract to fall apart.  We have to have our house inspected.  Once that happens, the buyers will create a list of things they want taken care of before the option period is over.  That option period is 10 days.  Then we have to have an appraisal to ensure that we are selling for what the house is worth.  Really, what our house is worth is up for interpretation.  The first person might say something and a second person will suggest it's 10K higher or lower than the first person.  Either way, whatever the appraiser says can cause things to fall apart.  Then there's also the fact that the buyers can just change their minds.  Isn't that a bunch of sh......poop? 

All in all, things look good.  These buyers are getting the house a great price and in great condition.  Still, jumping through hoops to be sure the house is acceptable and constantly waiting for update phone calls and emails is not my idea of fun.  One thing this does afford us, though, is the opportunity to get serious about where we want to live up here in Maryland.  Some of you may know that we have been considering living with Steve's parents.  It would help us pay down some debt by having a smaller housing cost and it would help them afford a bigger (IE nicer) house.  Our other option is to look at housing in our own price range. 

The market here is very different from Texas.  You get less house for your money, but there are different amenities that come with a house here, as well.  You may be buying a townhouse and it may have smaller rooms in general, but you also tend to get a deck and a basement (many of them actually are finished).  There's also more affordable housing on the water, although I'm pretty certain we aren't really interested in living on the water.  Also, taxing is different, so while we'll buy a more expensive house, our monthly payments won't change very much.  So, tomorrow we will go look at some houses in the area to see if it is worth buying our own house or if we will go forward with living with Steve's parents for a couple of years.

Even still, buying a house here is contingent on closing on our house in Texas.  And so, we wait.