Saturday, October 30, 2010

Perfect Sunset.

I don't want to talk about anything medically related! So I want to share with you some beautiful sunset pictures I took two nights ago at the Ocenside Harbor Pier. My dear friend Andrea is visiting the girls and I. We went to the Sunset Farmer's Market and than took a walk down the pier and ended up getting some beautiful photos. Enjoy!


Below is Madison and her Auntie Andrea!


The one below with Madison staring out over the pier with her lollipop in hand is one of my favorites!






Thursday, October 21, 2010

Genetics

OKAY EVERYONE: We had our appointment today with the Geneticist concerning Emily's blood results. And below is everything we talked about. It's alot, so take your time! If you have any questions, feel free to ask...I'm still learning about it all! But we do have SOME answers at least! Next up...the Pediatric Neurosurgeon!


We all have multiple strands of chromosomes. Each chromosome contains two identical strands; one strand from mom and one strand from dad. Each strand contains a bunch of genes. With Emily...her chromsome 7 pair is off. She has one good strand and the other strand is missing 41 genes. This is the "chunk" of chromosome 7 the doctor was talking about.

Now, everyone has roughly the same things dormant in our DNA...we all have genes for Down Syndrome or Cystic Phybrosis...it's when our pairs aren't right that those disorders surface. Some require both genes to be present (to be dormant), sometimes only one gene needs to be "good"...it's usually when both of those genes are missing...is there something wrong. However, in Emily's case, that's not so. There is one particular disease called CEREBRAL CAVERNOUS MALFORMATION or CCM2. This particular disease requires two good genes (one from each strand in Chromosome 7) but Emily is missing one of those genes and so...tada...she has Cerebral Cavernous Malformation.

So what does this mean? This disease causes blockage in blood vessels, slow blood flow throught the affected area and strokes...but in adults. The problem here is that gene research is still fairly new, not all the genes have been broken down and figuered out...what's more...gene research in children is almost non-existent. The doctor only found ONE article about this disease in children, and it was like a teenager or something. There is so little research because it's rare that a child (let alone an infant) needs their genes tested (outside of cases like down syndrome) so Cerebral Cavernous Malformation is even rarer...does that all make sense?

So what next? She is giving our file to the Pediatric Neurosurgeon and requesting a consult for me to speak with him because here is what she's thinking... When adults have strokes and they do an MRI to see how or where it started it can be tricky because many times these blocked blood vessels look like...cysts! So it very well could be that Emily's "cyst" is actually early onset CCM2. But that's for the Neurosurgeon to decide...he may want another MRI to check again! Ugh! If it IS CCM2 than they will need to do surgery to release the blood vessels and get it flowing again. If it's NOT, than well...just another thing wrong! Wow...that's alot. Please feel free to process that and ask questions...I'm SURE I forgot something!

Thanks everyone...and of course...continued prayer would be wonderful!!!

Wednesday, October 20, 2010

Symptoms

Gearing up to see the geneticist tomorrow and I've been doing some of my own research on Chromosome 7. As I was looking through all the syndromes and disorders that are associated with a deletion in genes within Chromosome 7, I realized that I needed to have a list of all of Emily's symptoms in front of me to compare and contrast with what I am seeing in all these articles. So here it goes:

1. Large head
2. Prominent forehead
3. Elfin-like ears (yes this is a symptom present in alot of these syndromes!)
4. Enlarged genitalia as well as pubic hair
5. Low muscle tone in hands and feet
6. Speech delays
7. Learning disabilities
8. Slow physical development
9. Behaviors (really...it's a symptom!)
10. Sensory Processing Disorder (not a symptom per se, just something else we're dealing with)

That's everything I can think of at the moment. I know this helps me...to see everything together in one list!

Oh and OF COURSE...11. Cyst on her pituitary gland!

Tuesday, October 19, 2010

Answers!

We have finally recieved some answers!

The most recent set of blood tests came back with an "interesting" result...Emily is missing a big portion of Chromosome 7. I don't know what that all means, but we meet with the geneticist on Thursday to go over all the results. The doctor is currently researching all the genes that are located in Chromosome 7 and what is means to be missing a majority of those. She said that she has already found one set of genes that could be causing the cyst in her brain. While she does her research, I will be doing my own! I'd like to go in there on Thursday with some idea of what she is talking about! Wish us luck!

Sunday, October 17, 2010

You ready for this...

Okay...here it comes...BIG NEWS!!! Ready? Are you REALLY READY?????

My Emily has FINALLY said her first word!!!!!!

Yup! That's right! Emily has her first word! I am so excited!!!

"NO"

It's the most perfect and beautiful "NO" that has ever been spoken!

I'm thinking about throwing a gala in her honor...

Wednesday, October 13, 2010

...



This right here is what happens when your husband is deployed, you haven't heard from him in 2 weeks, you happen to get on Facebook at the exact time he gets on, and you chat for almost an hour...
...your children tend to be ignored causing them to find entertainment through dirty dishes and an empty Cheeze-it box.

Saturday, October 9, 2010

The Prayer

We are in the car, on our way home from Saturday night service at church. (I teach 2nd-5th grade girls) Madison is telling me about Sunday School and then...out of the blue...

Maddy: Why did God give you two girls?

Me: What? What do you mean?

Maddy: Why did God give you two girls? Two sisters?

Me: Oh, you and Emily? Well, He wanted me and Daddy to have two beautiful little girls to raise.

Maddy: But why didn't He want you to have a boy? Why can't I have a brother?

Me: I don't know. Maybe God just wanted you to have a sister.

Maddy: But I can ask God for a brother...right?

Me: Sure, you can ask God if you want.

Maddy: Can I pray now?

Me: Of course, you can pray to God whenever you want.

Maddy: I'm gonna pray. Jesus, Please tell God to give me a brother. I want one sister and one brother. Please give me a brother. In Jesus Name Amen. It was just a short prayer Mom.

Me: That was wonderful. Prayers don't have to be long. God listens to all your prayers.

Maddy: Because God can listen to my heart. He hears me even when I don't talk. Because He lives in my heart.

Me: (tear) That's right. (Proud Momma)

My Maddy is so full of love for our God, it's amazing. I am so proud of her. Despite the fact that she still hasn't gotten over this whole 'brother' business...