Here's To Hoping Things Get Better

First of all, I would like to apologize for my last post. Holy typos batman! For the sake of an excuse for my English language loving friends I will now go back to reviewing and editing my work before I hit that publish button! I'm trying to get back into the grove of writing. I'm personally horrified with my latest efforts so please bare with me!

All bundled up!

Amber had a follow up with her eye Dr on Thursday. I was really worried about this appointment because at her last appointment in October she wanted nothing to do with them, put up a big stink and refused to even open her eyes. Because of her stink fest they could not accurately tell if her corneal clouding had gotten worse. At the time they thought, based on what little they could see, that the clouding had actually gotten better.
I'm very pleased to say that Amber behaved herself enough for them to actually get a good look at her eyes. The clouding is still present throughout the stromal layer (I'm pretty sure that's the middle layer of the cornea/white part) it is not getting better (not surprised) but it doesn't seem to be getting worse for right now. Believe it or not that's actually good news! The fact that it's there is just a fact of what Amber has, for it to be getting better would have been something close to a miracle. The fact that it's not getting worse is obviously great news since we can see other parts of her (like her gums) are getting worse. The other good news from this appointment is her eye sight hasn't gotten any worse and her glasses are working out very well for her! We'll go back to see them in the spring for another follow up.

Friday we made the long journey into Boston to see Amber's geneticist. Apparently really big snow bankings have a magical affect on people and they forget how to drive, which is very surprising given where we live! Our hour and a half drive turned into three hours and even though we gave ourselves extra time we were still late, but thankfully so was everyone else!

The magical snow bankings in Boston!

The appointment went really well. They were very happy to see that Amber wasn't in the super sick state that they had expected. They gave her a thorough looking over, did some chest x-rays and blood work. We found out that her lungs sound a little icky but look clear on film, she has yet another ear infection and her potassium is a little out of whack. The best news from this appointment was based on Amber's last head/neck x-ray. It showed that she has a really good airway, better than expected so this alleviates some day to day stress. We're still not completely sure why Amber's been having breathing issues at night and running an on and off fever. We do know this past week the fever has been from her ear infection. To get things back to normal she's on an antibiotic, we're back to giving her inhaler more often, doing chest pt and just giving her whatever she needs to help. We're really hoping this will clear up the odd fever thing for good. Since she doesn't act like she's sick or anything is bothering her it's a good sign that nothing really bad is going on.

For general news around our house; we're due to get a lot more snow (again) this week which might put a wrinkle in early intervention and the pediatrician visit. The babes and I have about 10 more days till we take our trip to PA. This means I'll be spending the week getting my butt moving on making sure everything is all set for us to go. I've also discovered that in the absence of my mother I'm actually a pretty good housewife.
 And now I'm going to proofread this, feed my super adorable baby and finish cleaning my shower, sounds exciting huh!

Proof that my baby is super adorable!

Back To Blogging!

Yikes, it's been longer than I thought since I've been on here!

 Our little family has been traveling all over the place. We headed up to North Conway NH the Thursday after my last post and stayed a couple of days, it was so nice to get away just the three of us! Then we had a lazy week at home before we headed out for a long weekend visiting our PA family. Well the long weekend turned into a whole week for Amber and I, it was so great to say the least! In a perfect world I would have been blogging daily about all our fun! Instead I selfishly chose to savor each day and have tons of fun and not tell you all about it ;) Don't worry I'll sit down and give them all the full post they deserve, mostly because I know Blogger won't be cool with all those cute photos in one post!

Here's a snippet of our trips!

It hasn't been all fun and games though, we've had two appointments this week. I know I usually go in order of the days of the weeks but one needs more explanation than the other so I'm going to be a little crazy and go out of order.
Tuesday she had a follow up with her eye dr. It should have been to see how her new glasses are working but  thanks to our lovely insurance it's going to be another week till they come in. I'm not complaining too badly since I'm pretty sure they're mostly covering them and they haven't given us any crap in a very long time! There isn't much else to say Amber was in a very grumpy mood and cried the entire time. What he did tell was he thinks the cornea clouding is actually better! Yeah it makes no sense, he said it should be either the same or worse but not better. We're trying to not get our hopes up too much since it could have been because she was crying, but still YAAY!! Other other yay news from them is we don't have to go back till January!! Well only to pick up her glasses but I'm not counting it.

Wednesday we had a cardiology appointment with her new cardiologist in Boston. We love him! He actually gives us all the information and gives us his opinion! He's also seen other patients with ML although I think based on what he's said it's type 3. His news wasn't really great though. Amber's heart is working harder and deteriorating faster than they expected even with the mitral leak and the left side being very dilated. He told us that if we don't do anything surgically, even using medication, in the next year her quality of life will greatly diminish and at best she might have another 2 years. Right now she is at borderline emergency level for needing her heart repaired. Next Thursday she will have a heart catheterization and the MRI on her heart (and brain) to get more information on how soon we need to do the surgery. We are really hesitant about these procedures because she will have to be sedated/intubated for them. Her Dr's are concerned but not too worried because she did so well with intubation in June, it will also give them an idea as to whether or not she'll be able to handle intubation along with a surgery. We are praying as always for the best but still can not help being uneasy about it.

In good news the wonderful nurse practitioner from our metabolic geneticist set up the mother of all meeting with pretty much all of Amber's specialist! I could pee from excitement! It's something I've dreamed about but never thought was possible like unicorns! Can you tell how excited I am! To be honest it's very exciting but also bitter sweet since we won't be talking about very wonderful things like; what's the most important things we need to do to keep her quality of life good, what is actually going to happen with her, what they can and can't do with her and their roles in her life now. The guest list is; metabolic geneticist, his lady, pulmonary superman, the dread orthopedist, the new cardiologist, the never before met new neurologist, the P.A.C.T team (palliative care people), possibly our early intervention ladies and whoever I'm forgetting (other than us of course!).

 Here this is a good face to represent her grumpiness all week!

Since I know some of you are not cool with me missing "Wordless Wednesday" I squeezed them into the post. Can you guess what the title might have been?

Well that's all for now folks! 

Another Week (I'm at a loss for an exciting title!)

I don't know if I've mentioned it or not but Amber LOVES bath time now :) She tries to swim away from us and is all smiles! She only cries when we take her out now, it's so cute! 

"what do you mean I don't see well!" ~ yes it was surprising to all of us....I guess this explains why she makes lovey eyes, smiles and talks to lamps :)

Thursday was Amber's eye appointment. Her eye Dr was great and she did really well through the whole thing. The good news is she does not have any of the eye problems that are linked to Beals or Marfan syndrome! I think it will officially rule out both of the syndromes for her. This does mean we're back to square one. What they did find out is she's extremely farsighted. I guess all babies are borne somewhat farsighted and as they grow the eye elongates and they grow out of being farsighted. This could happen with her it might take longer because she is such a slow grower. The Dr made it sound like she'll probably have to have glasses (that will be interesting) I guess we'll find out when we go back in 4 months.

Holding her own bottle!!

This is from Valentine's day! She is starting to do a really good job of holding her own bottle, with no help from us or a burp cloth! You can see from the picture she still keeps that left hand in a fist but she'll open the right to hold it. She can open the left now! Not all the way but enough that she can grab and let go of her toys without us opening her hand for her! She still holds her thumbs in but she's been holding them out and using them more! This is AMAZING and after only 2 weeks of the splints!!

"mom I can't move my legs!"

She has a size 1-2 diaper on :) it funny to think that most babies her age are already in this size or bigger! It's almost time to move her out of newborn size diapers :( The size 1's are still big on her but the newborns are definitely starting to get to snug. Its such a bittersweet thing. I'm so happy she's getting bigger but I love her being so tiny!!

Our baby bunny

I'm not too sure if she liked this or not but I could resist snapping a shot of her in bunny ears! We had so much fun walking around the craft store the other day looking at all the pretty things. (she is easily distracted just like her mother!)

Unfortunately I don't have a good caption for this picture. Her face just cracks me up! I think she was very interested in her hands and didn't want her picture taken. The hubby says she's being "gangster"....I don't know. But she's got her boots on and she's already to go play in the snow! I guess you could say she's upset because I won't let her. Wednesday we got a ton of snow, it was up over my knees! Thursday we got a ton of rain, so most of the snow melted...and ended up in our cellar. And today we've had snow flurries and we've been told we won't see the sun till Tuesday. How sad. Amber and I are ready for some sun and warm weather so we can go play outside!!

I can hardly remember these days

(no I am NOT pining for a tiny one again!) I love to look back and see how far she's come! Yes she is small for her age but look how big she's now! Someone recently said to me "why would God give such a small problematic baby to young, first time parents it doesn't seem fair shouldn't those babies go to older parents who've had other babies?" My answer; because all we know is how to deal with a small baby, we have nothing to compare her too so she seems easy. I was never overly concerned about her until I found out it wasn't "normal" to have a baby like ours. God gives you what He knows you can handle. I think that's pretty great :)

I would also like to say Thank You! For the supportive comments and a much needed sermon and bible study lesson. I'm now back on track (more like refreshed) to where I need to be spiritually to take care of Amber and help her with the journey He has for her.

By the way next week we'll be seeing the geneticist on Tuesday and the endocrinologist on Friday.