Tuesday, March 22, 2011

Ugh ....

It's been a long time since I posted again! I wish I could come up with an extra 30 minutes every day to sit and post.

Emily has been in and out of the hospital. Right now she's inpatient. She has air in her bowel wall and possibly her chest, she isn't tolerating feeds, she's losing weight, she has blood in her stool, etc.

The GI thinks it's related to whatever mitochondrial disorder she may have, otherwise just an overall gut shut down. He is hopeful that it is temporary.

In the meantime, her VNS was supposed to be placed Friday. Surgery has been postponed indefinitely. :(

Please pray for Emily. She needs to get better quick!

Sunday, March 6, 2011

Chex Mix Giveaway

This is the week of giveaways on my blog! :) I am excited to share some information about Chex Mix with you, and offer you a chance to win a prize package.

I received a box of Rice Chex, a measuring cup set and a Chex® Party Mix tote bag from General Mills through MyBlogSpark. We made Muddy Buddy Chex Mix, and it was a huge hit! Even my 90 year old Grandmother loved it.

For decades, savvy home cooks have been using crunchy Chex® cereal as the starting point for their family-favorite party mix recipes. Many Chex® Party Mix recipes can be made in the microwave in just 15 minutes and call for ingredients you already have in your pantry. From holiday gatherings to impromptu get-togethers, Chex® Party Mix provides a snack idea that will impress your guests in no time.

Whether you’re looking for sweet or salty, Chex® Party Mix has something to offer every taste bud, making it the perfect go-to snack for entertaining this holiday season. Four gluten-free varieties of Chex cereal help ensure that even party guests with gluten restrictions can enjoy Chex® Party Mix recipes like the NEW Chex Lemon Buddies! Remember Multi-Bran and Wheat Chex are not gluten-free.

I am offering a prize pack to one of my readers! All you have to do to enter is leave a comment on this post and tell me your favorite way to eat Chex cereal. Do you like sweet mixes, salty party mixes, or do you prefer to just eat your Chex with milk?

Jacob will draw one name from a hat on Wednesday, March 9th, to determine the winner. Be sure to enter now!

Saturday, March 5, 2011

More information, and a Yoplait winner!

First off, congratulations to Joan's Blessings - you are the winner of the Yoplait giveaway! Please email me your name and address. MyBlogSpark will then mail you your gift pack. :)

Okay, so I took a few days to stew over what the metabolic dr talked to me about, and I am in a better place with it. We know that Emily has some genetic condition that is yet to be diagnosed, this is not a surprise. We know that it is causing her to decline lately, that is obvious. The seizures are the biggest cause of her regression right now. Hopefully once we get the VNS placed and turned on, we will see some relief of them.

We see the geneticist on Friday. I am supposed to tell her that the metabolic dr thinks we should re-run her micro-array. It was done 4 years ago and the test now detects so many different genetic mutations than it did 4 years ago. Also he wants her to re-run Emily's SCN1A test. It was done by UCLA at a lab that is evidently notorious for wonky results. It came back with a mutation, which could explain Emily's Lennox-Gastaut Syndrome. Unfortunately, it's an "unknown mutation" so it could also mean nothing. Hopefully if we rerun this test through Baylor University, where we do all our metabolic labs through, it will come back with more information. Or perhaps the geneticist will be able to interpret the results we have - we'll see on Friday.

We go back to metabolics in 3 months. He would like to order a High ThroughPut Mitochondrial Screening. He said that it tests over 700 mito genes. The other thing he wants to do is try and get us in a trial of a Whole Genome Sequencing test, that's for the whole family. The affected child, non-affected sibling, and both parents. Neither of these tests would give us a diagnosis that would be curable. At this point, we get that. Whatever Emily has is not something that can be cured. All we can do, and will do, is treat her medical conditions as they come. Make sure she is happy and comfortable. And spend every minute of every day loving on her.

The High ThroughPut test right now costs about $16,000. He said our insurance may cover it, but may not. If we wait 6-12 months, Baylor is going to offer the same test and he thinks it will only be about $5000. The insurance should approve that no problem. Every time we've done gene sequencing (they isolate and sequence one gene, that is how we got her SCAD Deficiency diagnosis confirmed) it costs about $2000. Wow! We've done tests for Angelman Syndrome, CDKL5, MeCP2, FOXsomethingforrett, Cornelia deLange Syndrome, Ethylmalonic Encephalopathy, and on and on and on.

The metabolic dr said that of his 3000 or so patients, Emily is one of the top 5 who have had the most testing done without getting a diagnosis. Wow. She really is a mystery.

So that's a bit more of an explanation of our appointment last Thursday. It was not a fun appointment. Oh, and her weight is down to 28 pounds now. She's 39" long. 7 years old - 28 pounds. She is SO skinny now. We are working on how to add more calories to her blenderized diet during the day. Our dietician is great, we are lucky to have someone who approves of our blenderized diet.

This is a busy week. My mother-in-law is coming in tomorrow for a few days. Jacob has Robotics Club after school this week, for a competition at JPL next week. That is exciting! Add in his regular tennis lessons, Emily's regular appointments, etc .... I am going to need a nap through-out the week for sure!

Lastly, I have Emily's room almost completely redone now thanks to Make a Wish. They had delivered the last items last weekend, but I didn't get a chance until today to get it all put together. I will try and get some pictures tomorrow to share. Her room looks great!! :)

Friday, March 4, 2011

So much to do and not enough time to even think about doing it all

I didn't have Jacob draw a name yet for the Yoplait giveaway, I will have him do it this weekend. Sorry for the delay.

Emily has had a crappy seizure week. She got Klonopin many, many, many times for seizures. She got Diastat twice this week. Once was at a metabolics appointment, where we threw her on a pulse ox machine and she was satting at 88 percent. Not great. :( I called her insurance case manager and was told that the VNS authorization should be in by next week. Three weeks later?? Insane. So we are just waiting (im)patiently for that.

We had a long appointment with our metabolic dr this week. It was not a great day. Emily was doing horrible, and the doctor really loves her. We talked and talked, and we ended with both the Dr and I in tears. We had The Talk. You know, the one where you talk about the future and what it looks like. The one where you compare Emily today to Emily a year ago. Or even three months ago. Her decline is rapid and scary as shit. :(

We talked a lot about mitochondrial disorders and how the metabolicist has always felt she has one. We did a muscle biopsy 5 years ago and it was normal, but he says they were only looking for a few disorders. We are looking into some much, much more extensive testing.

He was quick to tell me that any answer we get at this point won't be good. There is nothing we can diagnose her with at this point that will be treatable, or have a cure. It will just give us an answer, and information for the future.

This appointment SUCKED. I am just so thankful that I really like this Dr, and I know he loves Emily. It was clearly hard for him to talk to me this bluntly, as it was for me to hear it.

We see the geneticist next Friday. We haven't seen her in 4 years. I don't expect anything earth shattering to come of that appointment, other than her reiterating what the metabolic Dr said already.

We have a busy weekend coming, lots of house cleaning and organizing. My mother-in-law is coming for the week, so it will be nice to see her. She hasn't seen the kids in forever. Hopefully Emily will have a better week next week, while she is here.

Wednesday, March 2, 2011

Yoplait Smoothie Giveaway!

I was happy to get a package from MyBlogspark.com recently! Inside was coupon to try Yoplait Frozen Smoothies, a drawstring backpack, a water bottle and a fitness journal. We went and bought our Smoothie packages. We got two packages of the Strawberry Banana flavor, because it says that one package is only 2 servings and there are three of us.

Including Yoplait Frozen Smoothies in your diet is a quick and easy way to help you get important nutrients, like vitamin C or calcium your body needs. And with seven out of every ten Americans not eating the recommended two to four servings of fruit per day, Yoplait Frozen Smoothies could help you reach that goal.

Each package of Yoplait Frozen Smoothies contains one full serving of fruit (1/2 cup) and 110 to 120 calories per serving. Not only does Yoplait yogurt contain live and active cultures, but when prepared with skim milk and made according to package directions, Yoplait Frozen Smoothies are a good source of calcium. So raise your smoothie glass and toast to a new you!

Found in the frozen fruit aisle of your local grocery store, Yoplait Frozen Smoothies come in four delicious flavors. Be sure to check out the newest flavor, Blueberry Pomegranate, along with other favorites like Triple Berry, Strawberry Banana, and Strawberry Mango Pineapple.

I am able to offer a gift package to one of YOU! :) To enter, all you have to do is leave a comment on this post. Tell me what your favorite healthy snack or dessert is, that your kids actually eat and enjoy! These smoothies are definitely going to be a common dessert in our house. They are so cool and tasty!

Jacob will be drawing one name from a hat on Friday, March 4th to choose the winner. Be sure to comment now to enter!

Thank you to Yoplait, who provided me with the product, and the information through MyBlogSpark.

Tuesday, March 1, 2011

Sweet Maggie ....

One of the best parts of being online and having friends with special needs kids is that we all support one another, help one another, and fall in love with each other's kids. One of the worst parts of being online and having friends with special needs kids is that our heart breaks as we lose our sweet loves.

Little Maggie held a special place in my heart. Her mom, Michelle, had contacted me when Maggie was little. She was so similar to what my Emily was like as a teeny-tiny. Our girls went through so many similar things.

My heart broke this week when I read about Maggie's health worsening. Then the blog post that we all were afraid to read. Sweet Maggie has passed away. :( My thoughts stray to her adorable little face all day. I cannot imagine the heartache her family is going through.

My prayers are with the Agnew family during this hard time. (((hugs)))