Hello Sunshine

I'm just loving this sunshine we've been having!! We got a 4 mile walk in today, that's a total of 12 miles this week!! I don't think we'll get a walk in tomorrow but hopefully we'll get one on Saturday. I think I've lost my mind with all this sunshine I can't believe how fast this week is flying by and Amber is 6 months today! Can you believe it I feel like we just brought her home yesterday. I haven't done her 6 month pictures yet but here are some from today.

She's so cute laying on her back playing with her hands.
She always seems surprised to see us She is all smiles :)
I love this onesie my aunt made for her, it has cute flowers on her bottom (mom I did not say butt for you:) ) but I couldn't get a picture because she was being grumpy (yes don't let her smiles fool you!)

Today was not all sunshine. Our geneticist called to tell us she made us an appointment with a geneticist at Children's. I guess this geneticist (#3) specializes or has seen what ever it is that they're thinking it is now. Sorry to be so ambiguous about it. I guess it has a difficult name she was going to e-mail it to us so we could look into it but she didn't, she's not a big fan of her e-mail. So we're going to be at the hospital for a very long time tomorrow. Our surgery consult is at 2 and the genetics appointment is at 4, poor baby is going to be so done by the end of the day.

Our car (yes the tiny orange scion) bit the dust. I'm not sure whats up with it except that the hubs called to say he was waiting for it to be towed. I think it will be fixable but it makes things difficult. Even though this really stinks I can see God's hand in it. He wasn't supposed to work tonight and if he hadn't it would have died on our way to or from Boston....and that would have been horrible! Our other car has crapped out on us too but thankfully we can use my moms car.

At this point its kind of funny it seems to be one thing after another. I'm just enjoying this sunshine and hoping it stays for a long time!!

Oh, I would also like to say that I am far from a blogging pro and I am still trying to figure all of this out. I've found that if I use google chrome I have a lot of issues getting my pictures up right. I still can't figure out my video issues I tired again tonight on Internet explorer and it still didn't work. I guess I'll have to get some help from the hubs on this one.

This is an oldie but a goodie :)

Happy St. Patrick's Day!

Happy St. Patrick's Day!!

It's a picture perfect St. Patrick's Day the sun is shinning, the snow is melting the grass is.....brown :) well at least the sun is shinning! I have not prepared anything special for today, no green cookies, food or even corned beef and cabbage :( it's very sad. I did put on a green shirt and give Amber a green bow, we're the only two Irish ones in the house so we have to show some support for the day! I will share with you three Irish blessing/poems from my tiny "Irish Blessings" book above.

The first is in honor of St. Patrick's Day:

May the leprechauns

be near you,

To spread luck

along your way.

And may all the

Irish angels

Smile on you

St. Patrick’s Day.

The second one is to make you laugh:

Health and a long life to you.

Land without rent to you.

A child every year to you.

And if you can’t go to heaven,

May you at least die in Ireland.

And the third is one I love:

When Irish eyes are smiling,

Sure it’s like a morning spring.

In the lilt of Irish laughter

You can hear the angles sing.

When Irish hearts are happy,

All the world seems bright and gay.

And when Irish eyes are smiling,

They’ll steal your heart away!

~ Traditional Irish Folk Song

Here are my favorite smiling Irish eyes! (I really hope this video works I've been having issues getting videos lately)

Yesterday we enjoyed a lovely 5 mile walk! Amber really loves being out in the fresh air so I think we're going to head out on another walk! Hope you're all enjoying some sunshine!!

Cabin Fever

I don't know if maybe we've all had too much sugar or we have cabin fever from all this rain! (By the way I can't say cabin fever without thinking of the movie Muppet Treasure Island) Anyways whatever it is made us have a very silly day yesterday.

I've mentioned before that Amber's found her voice. She talked non stop yesterday in her new high pitched voice, its so cute! The other thing she's discovered is her nose. Well, she's discovered how to put her finger up her nose. She still has a hard time sucking her thumb because of its position so her pointer finger ends up her nose. I guess she thinks it fun because now she just chills with her finger up her nose even when she's not sucking her thumb. When you catch her doing it she just laughs and smiles.

It makes photo shoots harder. So lady like right!

I do have somewhat of an update on Amber. I made a lot of calls yesterday! Her 1st geneticist is taking care of sending her records over to Children's (yaay)! She was also upset that we have to wait till Friday for a surgery consult and is trying to get us there sooner. We also discussed our predicament about having two important appointments on Friday. Later in the evening I got a call from the new geneticist we were supposed to be seeing on Friday. It was so nice to talk her she sounded like she could have been Amber's grandma. She said she constantly thinks and talks about Amber. She even has a picture of Amber as her background and has a slid show of her going all the time! I was completely shocked by how much she cares about our little Amber!! She really wants us to just focus on having the diaphragmatic hernia fixed right now and said that she would just have our first geneticist run the tests she was going to do. That really takes a lot of stress off of us, so now we're just waiting to hear if they are going to move the consult up or not.

I think that's all for now I have a ton of cleaning to do, it finally stopped raining and the hubs has the day off!

I'm thinking today is going to be another good day :)

Just What The Dr. Ordered

My best friend came over Saturday and it was just what the Dr ordered after such a crazy week. We decided to make cookies and after 10 mins we were back to being the same old crazy girls we were in elementary school!

To give you an idea here is a favorite picture of us from the night of my wedding rehearsal.

I have the perfect book for making cookies

It's a behemoth to say the least; 320 pages, 150 recipes and I think it weights more than Amber!

After a lot of giggling we decided on making Finnish Spice Cookies.

2 cups all-purpose flour

1 1/2 teaspoons ground ginger

1 1/2 teaspoons ground cinnamon

1/2 teaspoon ground cardamom

1/2 teaspoon ground cloves

2/3 cup packed light brown sugar

1/2 cup (1 stick) butter, softened

1/2 teaspoon baking soda

3 to 5 tablespoons how water

Royal Icing (recipe follow)

1) Place flour, ginger, cinnamon, cardamom and cloves in medium bowl; stir to combine.

2) Beat butter then brown sugar in a large bowl until light and fluffy. Dissolve baking soda in 3 tablespoons water. Beat into butter mixture. Gradually add flour mixture. Beat until dough firms. (If dough is too crumbly, add more water, 1 tablespoon at a time, until dough holds together.) Form dough into 2 discs; wrap in plastic wrap and refrigerate until firm, 30 minutes or overnight. (we did a little over 30 min for one and it was perfect left the other in longer it was really hard and I didn't like working with it as much as the first.)

3) Preheat oven to 375 F Grease cookie sheets; set aside

4) Working with one disc at a time, roll out dough on lightly floured surface to 1/8-inch thickness. Cut dough with floured 3-inch pig shaped cookie cutter or desired cookie cutter. Place cutout 1 inch apart on prepared cookie sheets. Gently press dough trimmings back together; reroll and cut out more cookies.

5) Bake 8 to 10 minutes or until firm and lightly browned. Remove cookies to wire racks; cool completely

6) Prepare Royal Icing. Spoon into pastry bag fitted with writing tip. (or any plastic ziplock/sandwich bag and cut a tiny bit of the tip off the bigger the hole the more comes out) Decorate cooled cookies with icing. Let stand at room temperature 1 hour or until set. Store tightly covered at room temperature or freeze up to 3 months. Makes about 5 dozen cookies

Royal Icing: Beat 1 room-temperature egg white with electric mixer at high speed until foamy. Gradually add 2 cups sifted powdered sugar and 1/2 teaspoon almond extract; beat at low speed until moistened. Increase mixer to high and beat until icing is stiff. (Beat in up to 1/2 cup additional powdered sugar if necessary to reach proper consistency)

My Notes: Its a very easy recipe but like the name says they are very spicy the frosting is a a good contrasting flavor. I like them; they are like a ginger snap's exotic cousin. Royal Icing can be a pain, really beat your egg! The trick is to make the icing when you're ready to use it. If it gets to stiff or its not sticking to the cookie you can microwave it for 20 sec that seems to fix it for me (it also helps if you have warm hands). I baked mine for 9 min on baking stones.

Here are the ones that haven't been eaten :)

They actually came out pretty well for all of our goofing around and it was so much fun!

I think I might be making these next!!!

Hope you all had a great weekend! Amber is doing well she's been non stop talking except when we try to video her! We have some more calls to make on Monday about her Friday appointment. Hopefully we'll have a quiet week till then!

We Have A Date (kind of)

When you have a lot of Dr's its like the game telephone in the end the message is not what it sounded like when you started. After much to do and lots of explaining we finally have a surgery consult date set up for little Amber. We've changed insurances (ugh) and we're going to Children's (at the demand of our pedi.). Our date? Well its this Friday the 19th. Sounds familiar right? Its the same day as our long awaited appointment with a different geneticist who thinks she might have cracked the code. We're not sure when we'll get rescheduled, they pulled some strings last time I guess we'll just have to wait and see.

The good news is after talking to our main geneticist it sounds like her hernia is not that bad and this will be a one time permanent fix. Other than causing her difficulty to breath the hernia has not impacted the growth of Amber's lungs! It's yet to be decided if the hernia is the main cause of Amber's chest shape and poor weight gain. It could be a magic fix or it could just puzzle them more. The Dr did say that its almost guaranteed that it will fix her breathing issues. Our anesthesia fears have not been put to rest yet, especially after being informed that they will be deflating her lungs for the procedure. We still have a lot of unanswered questions that won't be addressed until we have our meeting with another geneticist who specializes in diaphragmatic hernias, the surgeon and the anesthesiologist.

On x-ray news the skeletal survey went well. It was shorter than last time and they did not have to retake any of! Thanks to daddy who has mad skills :) The full reports on her chest x-ray and skeletal survey are not in but so far nothing else bad has been found. The only new oddity with her is the rib bones look wide and spread out......yeah they have no idea what this means or if its a bad thing.

Crazy stuff but we're hanging in there. Amber has been in the best mood the last couple of day its been so much fun! Can't wait for this weekend!

Unexpected Wednesday

Yesterday Amber was supposed to have her second skeletal survey (full body x-ray) and chest x-ray. Well somethings weren't set up right so we didn't have the skeletal survey done and its been rescheduled for Thursday.

I have to say so far the worst testing for Amber has been the chest x-rays. They use a thing called a Pigg-O-Stat. Since its really hard to explain what this looks like here's a picture of it.

It looks horrible but its not supposed to be painful just annoying. For Amber its painful because she doesn't have that kind of range of motion in her arms, she has tight shoulder joints and any pressure on her chest is painful for her. The poor thing didn't do so bad on her first one but the second one she screamed so loud I could hear her through the thick door. This is the only test I can't watch :( From this x-ray they should be able to tell if her chest has become worse or not and possibly whats causing it.

Ok so that was yesterday! This morning during Early Intervention our geneticist called Luke. This is another reason I hate the Pigg-O-Stat! Last time they called us the next day to tell us Amber has dangerously thin bones and something needs to be done right away. This time they called to tell us she has a Diaphragmatic Hernia and will need surgery this week or next. Ugh talk about earth shattering. I really don't have details about how bad hers is. They said right now its just her bowels and not any other organs that are in her chest. I guess she's had the hole in her diaphragm from birth but nothing had moved up till now (probably because she has better muscle tone now and is using her stomach more). I don't have details yet the Dr's will be calling us back today to give us a time. I do know that it will be done at Mass General by a Dr that specializes in this type of hernia. Its not so much the surgery that I'm worried about its the anesthesia. With her preexisting breathing, weight and heart problem it can make anesthesia difficult to say the least.

The good thing is this explains why she has been choking so much. I don't know why this causes choking but it means she probably won't have to have a swallow study done.

Please be praying for us its not an easy thing to hear or have to go through. I know God will see us through!

Right now she is sleeping (a rare thing!) She'll only take a nap if she has her pink elephant blankie buddy its so cute!

Did She Just Do That?

This has been quite an eventful week and I'll admit I'm exhausted!

The most exciting news is that Amber is now starting to wave, clap and laugh! She does it in her own way so its easy to miss but she's really doing them!! Of course like any other baby she won't always do it when you want her too so I have yet to capture it on video to share with you all!!

Bear with me here I have a ton of information and events to tell you about. I should start doing updates more than just once a week when I have crazy weeks like this!

Monday ~ My mom left to go visit my dad. We headed to an appointment for me. Amber decided to show off and waved at my Dr! What a nice relaxing day :)

Tuesday ~ We headed to Amber's genetic appointment. It went really well! We had some very nice discussions with the geneticist and found out some interesting things. The results of her general metabolic and general genetic test came back. They are both normal! Its good but it makes things more complicated for her Dr's. The geneticist is now toying with the idea that it might be Juene Syndrome It seems like it would be a good explanation of Amber's chest shape, slight breathing problems and issues gaining weight. However its not a perfect fit. She has very long fingers, contracted fingers, osteopenia and pretty normal length arms and legs. Anyways our geneticist is sending us to her friend as Mass General for a second opinion.

Wednesday ~ The early intervention lady and developmental nurse came to visit Amber. It was a great session!! Amber was in the mood for showing off; talking, waving, clapping, imitating the works! By the way at her age she shouldn't really be imitating so they were very impressed! When they visit they do a mini neuro exam and she scored above average! For a fun experiment they want us to teach her some simple signs. As of right now she just thinks its really funny but won't do them. Her daddy did teach her the fist bump (in one day!) so maybe the signing will be his job.

Thursday ~ We had our first pulmonary appointment. This wasn't supposed to be until later in the month. We were really happy that they were able to see us sooner. Recently she has been choking a lot during and not during feeding, she also has episodes at night where she does her in pain cry randomly the developmental nurse and us think its possibly reflux, her soft pallet causing an obstruction or apnea. The pulmonologist right now wants to figure out why her chest is that shape. He said one reason could be Juene syndrome or something like that or because of her soft bone issue the diaphragm muscle could be pulling her chest walls in. It sounds bad but her pulse/oxygen levels at rest are ok and her pulse/oxygen levels during feeding go down lower than they should but its not low enough to cause any intervention or major concern at this point. He did order another full body x-ray and upright chest x-ray. I guess vitamin d makes the bones look different so they could have missed something last time and it will give them a better idea if her chest shape has actually become worse. Our geneticist check in on us while we were waiting and it sounds like she might go ahead and order a sleep and swallow study. The pulmonologist seems great but I'm not thrilled about his wait and see attitude. So after that loong afternoon at the dr's we came home to a dead water pump :( ugh so we packed up and slept at my grandparents for the night.

Friday ~ We were supposed to go to the endocrinologist but had to cancel to deal with the pump. Unfortunately we won't see him again until June, we're praying they can give us a cancellation like our pulmonary appointment. I made amber's mass gen. appointment! It wasn't supposed to be until July 2nd (!) but (thanks to her being famous and loved by all the geneticists in our region) we were moved up to March 19th!!!!!! Oh and my mom found a happy apple in with some old toys!!

Well that's our crazy week! I think this sums up how we all feel

yup she feel asleep while I was feeding her

(we finally got her a real highchair! it seems to work really well)

I think this runs in the family

He's such a cutie :)

Have a good weekend its supposed to be nice and warm here yaay!!!