Angleman Syndrome Criteria

I've been doing a little looking into Angelman's and wanted to share a little of my findings. We won't get the results of the genetic testing back for a couple of months but we're trying to prepare ourselves in case they come back positive. The bold sections are characteristics/symptoms that we find apply to Joe. There may be more since some of the medical jargon is still foreign to me.

Consensus Criteria or Clinical Symptoms of Angelman Syndrome

The following is an official list of the clinical characteristics of Angelman syndrome. These were derived by Dr. Charles Williams, er al, through the study of a group of individuals with AS and are known as "consensuscriteria".

A. Consistent Characteristics (100%)
- Developmental delay, functionally severe
- Speech impairment, none or minimal use of words; receptive and non-verbal communication skills higher than verbal ones
- Movement or balance disorder, usually ataxia of gait and/or tremulous movement of limbs
- Behavioral uniqueness: any combination of frequent laughter/smiling; apparent happy demeanor; easily excitable personality, often with hand flapping movements; hypermotoric behavior; short attention span

B. Frequent Characteristics (more than 80%)
- Delayed, disproportionate growth in head circumference, usually resulting in microcephaly (absolute or relative) by age 2
- Seizures, onset usually < 3 years of age o Abnormal EEG, characteristic pattern with large amplitude slow-spike waves (usually 2-3/s), facilitated by eye closure

C. Associated Characteristics (20 - 80%)
- Flat occiput (back of head)
- Occipital groove
- Protruding tongue - maybe
- Tongue thrusting; suck/swallowing disorders
- Feeding problems during infancy
- Prognathia (projecting jaw) - maybe
- Hypopigmented skin and eyes
- Wide mouth, wide-spaced teeth
- Frequent Drooling
- Excessive chewing/mouthing behaviors
- Strabismus
- Hypopigmented skin, light hair and eye color (compared to family), seen only in deletion cases *he's pretty pale but so are Isaac and I
- Hyperactive lower limb deep tendon reflexes
- Uplifted, flexed arms during walking
- Increased sensitivity to heat
- Sleep disturbance *sometimes, but I have always attributed it to having an older brother!
- Attraction to/fascination with water

If you are interested check out what Wikipedia has on it. The sections on prognosis and "living w/ Angelman's" were particularly interesting.

Door County Trip Recap

A few weeks ago Isaac and I had a long weekend to ourselves. It was our first "real" vacation in several years. We're spoiled by my inlaws' lakehouse - which is great - but its almost become just another place that we live sometimes. So it was nice to break from the usual and get away just the two of us.
We leisurely drove up to Door County, Wisconsin, stopping a few places along the way. As I mentioned in a previous post, I found a few diners along our designated route for us to try out. It was so nice to not be on a schedule. No naps to worry about or diapers to change. We were able to focus on enjoying one another's company. We could talk and tease and play in a grown up way that we cannot do daily. It was a breath of fresh air to me.
While in Door County we drove around and visited a couple lighthouses, stopped at a few beaches, did some wine tasting... we could have easily spent a week there but alas we only had a couple of days. It was such a blessing to be able to remind ourselves of what its like to just be a couple. Not "mom & dad"... but husband and wife. I am so thankful for this special time we were able to spend together.
Thanks to our friends and family who took great care of the boys for us while we were gone. And to my mom and sisters for cleaning my house and painting my bathroom! What a great surprise!

Scrap

Its been hard to find the time (or energy) to scrap lately. But Friday night a couple of us girls got together to get our scrap on. We are planning a DIY scrapbooking retreat that'll take place in a few weeks. So while we scrapped we were organizing and planning out the details of our weekend away! Since I have boys I have to look for reasons to use pink and flowers in my layouts. I was so happy to work in these fun fuzzy flowers into this Easter page.
And this page is of my family. Its pretty rare that we get a picture of us all together anymore. Its kind of weird that we're almost all grown up now! I'm the oldest at 29yrs and my "baby" brother is 14yrs. Wow!

Anyway... that is all I got for now. Hopefully I'll have a whole slideshow of pages for you when we get back from our scrappin' retreat!! Check out some other great paper crafts at Sunday Scrappin'!!

Studio Go!

Last week was our church's Vacation Bible School. This year was a game show theme. We were thankful to have had enough volunteers that I was able to be the designated photographer and got to wander around and take photos of all the VBS goings on.
What a fun time of learning about God and His plan for us. The kids heard a different bible story and were given a mission: Go Lead, Go Risk, Go Obey, Go Tell, and Go Serve. Its great to simplify and teach kids about God in such a tangible way. What a blessing to be a part of such an important ministry.
Both my boys enjoyed the week. Nate dragged his feet a little while we were getting ready to leave each day but had a blast while we were there. He still sings a few of the songs they learned and keeps repeating the "I say "Studio" you say "Go"" thing that they did all week. And Joe... he LOVED the worship time! He would get bouncing and clapping. It was the highlight of his day. It was pretty cute!
Thanks to all those who made it possible!

You scream, I scream....

5MinutesForMom is hosting a photo contest centered around the all American dessert: Ice Cream!! As you may know, I am a sucker for a good online contest, especially a photo one!
So here is a shot of my little man Nate digging into a love-it dish of chunky, chocolaty ice cream! As you can see, he's already wearing a little chocolate on his face!
I could use your help. If you make comments on the contest page about my pix it might help our chances of being a finalist. And if I am a finalist I will need your votes to win! The prizes are all Blue Bunny Ice Cream certificates! Who doesn't like to win ice cream? :-)

Our Diners Drive

So, my friend Lehi has gotten me into the show Diners Drive-ins and Dives on the Food Network. When we decided to take a trip (just my DH and I - no kids!). I immediately was looking up online to see if we were going to be going by any of the restaurants featured on Diners.
Our first stop was Triple XXX Family Restaurant in West Lafayette, IN. I don't think the place had changed much over the past fifty years. It reminded me of a soda shop. The food was pretty good. I tried the grilled tenderloin (as featured on the show) and liked it. Isaac got a Bernie Burger. We give it a thumbs up!
Then we stopped at Frank's Diner in Kenosha, WI. Its built around an old train car. They have their "Diner Etiquette" or rules posted for all to see. Their motto is "Order what you want. Eat what you get." I think that needs to be a magnet on every mom's fridge! Their menu varies from day to day, sometimes even a change in the cooks mood! When we were there it was tex-mex night. I got a burrito and Isaac got some carne asada dish. Both were exellent. Two solid thumbs up from me. Not so much from Isaac who didn't get a kick out of their motto/rules like I did. ;-)
Our last stop was at Smoque BBQ in Chicago, IL. It was not an old joint like the other two. While we were there on a Saturday afternoon it was packed. Isaac got brisket and I got a pulled pork sandwich. Both were very good. Their BBQ sauce is gooood! Isaac said it was reminicent of A1 sauce, but they put their own twist on it. I also enjoyed their baked mac and cheese and their french fries were particularly good as well. This was Isaac's favorite stop of the trip. So there you have it. Our little taste of the diners. They sure know what they're talking about! Just so you know... we did do more than eat on our trip! I'll post more about that later!

Vehicle Upgrade

For the last several years I have been driving a Chevy Cavalier. I have loved it. Frankly it was the nicest car I'd ever driven. Before that I had been driving a beat up old station wagon that I bought in high school that was being held together by the 30+ bumper stickers plastered on the back! So, the Cavalier has been good to us. My husband bought it shortly before we got together and its been a good car. But since we had Joe its just felt more and more cramped. It has bucket seats in the front so we could only fit five people in it and that was a squeeze because of the boys' car seats in the back.
We had been talking about getting a minivan for awhile but we both wanted to be able to pay cash for one instead of financing something. So we were taking our time saving up and expected it to be awhile longer before we reached the designated amount ($6000-$8000) we thought we would need to get what we wanted in a van.
Well a few weeks ago some friends of ours sent an email out our church saying they were getting rid of their Grand Caravan. It had nearly all the things we were looking for in a van. The miles were a little higher than what we were originally but the price was nearly a quarter what we were planning on. We took a couple days to test drive it but it didn't take us long to decide this was just what we were looking for.
Its been a few weeks now and the boys and I are very happy with it. There is so much more room for us to move around and to put our belongings. Whoever sits in the passenger seat doesn't have to hold the diaper bag anymore! I can actually take friends and my siblings with us when we go places now! I am thankful that we waited and were able to take advantage of this blessing. This is so much more family friendly and we could not be happier with it!

*these are not photos of our actual vehicles

Big Five

Here are the results of some dumb personality profile quiz I did on facebook. Why do I let myself get sucked into doing these stupid things all the time? ;-)

View Full MyPersonality.org Profile

0 50 100	%
Openness	75%
Conscientiousness	69%
Extraversion	69%
Agreeableness	69%
Neuroticism	56%

Trait Explanations

In order to interpret your raw trait scores, they were compared to the first 350,000 people to complete the full MyPersonality Big Five questionnaire. This allows the way that you described yourself to be put in the context of how other people respond to the questionnaire. You should remember that there are no fundamentally good or bad personalities, as each trait description has potential advantages and disadvantages. To help you reflect on these, you have also been given some questions which ask you to consider the implications of your trait descriptions. Other people viewing your personality profile will not be able to see these.

Openness

This trait refers to the extent to which you prefer novelty versus convention. Approximately 58% of respondents have a lower openness raw percentage than yours. From the way you answered the questions, you seem to describe yourself as someone who is aware of their feelings but doesn't get carried away with their imagination either. You might say that you embrace change when it is necessary while still resisting it when you think it is not, and that beauty is important to you, but it's not everything.

Reflective question: When do you think that tradition is important, and when is it time for change?

Conscientiousness

This trait refers to the extent to which you prefer an organised, or a flexible, approach in life. Approximately 65.5% of respondents have a lower conscientiousness raw percentage than yours. From the way you answered the questions, you seem to describe yourself as someone who avoids foreseeable trouble through purposefully planning, and achieves success through persistence. From your responses it appears that you are reliable and prepared for life's challenges.

Reflective question: How do you feel when you are working with someone who is disorganised?

Extraversion

This trait refers to the extent to which you enjoy company, and seek excitement and stimulation. Approximately 61.8% of respondents have a lower extraversion raw percentage than yours. From the way you answered the questions, you seem to describe yourself as someone who is energetic and active. Your answers describe you as someone who enjoys and actively seeks out social occasions, and that you especially enjoy talking with a big group of people.

Reflective question: Do you prefer to be busy all the time? Why?

Agreeableness

This trait refers to the way you express your opinions and manage relationships. Approximately 61.8% of respondents have a lower agreeableness raw percentage than yours. From the way you answered the questions, you seem to describe yourself as someone who people get along with easily. Your responses suggest that you would say you are considerate and friendly, and think that other people are generally honest and decent.

Reflective question: Is your co-operative preference ever taken advantage of by others?

Neuroticism (Emotional stability)

This trait refers to the way you cope with, and respond to, life's demands. Approximately 78.8% of respondents have a lower neuroticism raw percentage than yours. From the way you answered the questions, you seem to describe yourself as someone who is generally calm. Based on your responses, you come across as someone who can feel emotional or stressed out by some experiences, however your feelings tend to be warranted by the situation.

Reflective question: Which situations make you feel under pressure and which situations do not?

Progress

Joe has been busy lately. He is more active than we've ever seen him. He's rolling all over the place and with much more purpose than in the past. He is so interested in toys and is much more willing to stretch outside is comfort zone to try to get things. He topples over in an effort to reach a toy or something whereas before he would only attempt to get things that were easily within his grasp.
He is getting better at self feeding. His pincer grasp is improving. We changed his sippie cup from one with handles to one without. He has transitioned really well to the new cup.
Joe has been rotating on his tummy alot more. He has also been getting onto hands and knees and rocking back and forth, even unassisted . That is kind of a big deal. Its a step closer to crawling which is something we hope to see him do in the fairly near future.
Its been good for me personally to recognize the progress he has been making. Because I am with him almost all of the time it is difficult for me to see how far Joe has come. We are happy to see him continuing to progress. Hopefully it is just a taste of what is to come for our precious little guy.

Sketches

I know I've posted about this before but it bears repeating. I like to use sketches when laying out my scrapbook pages. Its a nice base to start from and then you can customize to make it fit your own style along the way.Here is a recent page I did for my friend Sniz's challenge. She chose the layout and a few of us are all competing to see who's page is the best. We'll see. I do think I had creative use of the M&M's logo from an ice cream treat carton. I like using things like that from around the house.
Some of my favorite places to get sketches are:

Page Maps

Scrapbooks Etc.

Ally Scraps Design Team

Creating Keepsakes Sketches PDF

If you have favorite places that you like to get sketches let me know! If you want to check out other paper crafters check out Sunday Scrappin'!!