Wiped out

I just typed out a long post, and it disappeared. That's right on par with how this week is going.

I am out of sorts and frazzled. The blood test for Ethylmalonic Encephalopathy will take 3-4 weeks. I can already tell I'm going to go crazy before then.

So, here's a cute picture. That's my post for the day, as I am now up to retyping everything that just disappeared!

Check out these cool lights!

I have been chosen by CSN Stores to share with you some information on their great products! CSN Stores has over 200 online stores where you can find everything from cookware to cribs and even your most specific needs like LED lighting or laptop cases. We have been adding to Emily's bright pink Hello Kitty room, and how cool would this table lamp be? It's SO fun and pretty, and perfect as a sensory toy!

I'm sure if you meander through the CSN stores you will find something that you didn't know you need, but cannot live without. :)

A cocktail at bedtime

It's how she rolls. :)

Yes, those are ALL meds. Except the bigger one in the middle, that's a water flush. It brings a whole new meaning to "cocktail" doesn't it?

Cornelia de Lange Syndrome? Ethylmalonic Encephalopathy?

We had our every 6 month metabolic appointment today, but our metabolicist is on vacation. To TIBET? LOL So we saw a new metabolicist who we have never seen, but I instantly liked. I had written down two things before our appointment - cornelia de lange syndrome, and ethylmalonic encephalopathy. The first two things HE asked about? Those exact two! It was sooo weird. Emily's nurse just looked at me like WOAH. :)

So we are running the blood test for Ethylmalonic Encephalopathy first. She has a diagnosis of SCAD Deficiency, but it doesn't account for all of her issues. So there is definately something else, but no one knows what. We are testing for EE because her metabolic labs always point to it. The test is super expensive and only done at Baylor University, which is why we haven't done it yet. So I take her Monday morning for her routine metabolic labs, as well as blood for the EE test. It will take 3-4 weeks to get the results back. I am scared sh*tless about this one.

The second topic was Cornelia de Lange Syndrome. I have thought about this one for a long time, but I thought that ALL people with this syndrome have hand abnormalities. Evidently this isn't true! Most do, but not all. She fits SOOOO many of the characteristics of this syndrome, it's like reading a list of All About Emily. So if the EE test comes back normal, we will be running bloodwork to check for this. CdLS is definately a better diagnosis than the EE!

Do any of you have CdLS kiddos that do NOT have hand abnormalities? Are any of them as delayed as Emily is? She doesn't talk, she doesn't walk, she doesn't sign, she doesn't eat. Okay, so she doesn't even pee much on her own. ;)

Anyway, these are the two things we are looking at right now. Honestly, the EE fits her metabolic lab profiles to a T, which is worriesome. It's going to be a long 3-4 weeks of waiting for results!

Isn't it pretty!

And with that, you learn their names. :) I am tired of remembering to type Peanut and Monkey. After most posts I hit alt-f and then search for their names, to make sure I didn't type it on accident. I'm done with that as of today.

And the necklace - isn't it beautiful! I got it from Lisa Leonard, through a gift certificate I got. (I will post more about that later). Isn't it gorgeous? I am thrilled to own it, and thrilled to debut Jacob and Emily on my blog. :)

Would you make a small donation?

We are trying to help raise money for our Children's Hospital by participating in this year's CHOC Walk! It is a fundraiser for the hospital. We need to raise $300 to participate, so that is my goal. We get to walk around Disneyland and meet all the characters, all while raising money for our children's hospital! :)

Please consider making a small donation. It's not until October, so I will be asking a few times between now and then. Thanks for anything you can give, every dollar helps!

http://www.chocwalk.net/faf/donorReg/donorPledge.asp?ievent=427906&lis=1&kntae427906=BEB7C8672B6343BBB0FC6EF2E6896DC5&supId=298481498

Here comes the bride ...

My husband has a few friends that he has known since middle school and high school still, and one of them got married last night. My hubby was a grooms man. It was so much fun, and he looked so good in his tux! We all got dressed up and went, it was a lot of fun. The bride and groom are both such goofy, fun people. :) Princess Peanut looked beautiful of course, and Monkey looked like such a little man. He got many compliments on his hair, LOL.

This picture was prompted by Monkey. He has to "pose" for pictures now, I am always trying to convince him to just smile and look cute.

Like this! :)

Yes, my husband is the short one on the end. ;)

Wasn't this beautiful!

Wearing dad's tuxedo coat after the ceremony.

My husband and a bridesmaid dancing their way into the reception.

Giving his speech.


Dancing! She loves to dance. She hops around and bobbles her head. :)

The only bad part was that the colored strobe lights at the dance area gave Peanut repeated small seizures. So we walked away from that area and mingled with other people we knew in high school. Yes, that was a long time ago! :)

It was a lot of fun! I was not excited about going to begin with, because Peanut is not always quiet and content. She goes to bed by 7:00 most nights, and the wedding didn't start until 5:00. We left around 10:00, and she was STILL doing good! It was a huge relief and we just had a great time as a family. It felt so NORMAL. :)