Nora's Army: Rett Runners!

This weekend was insane! We went to a conference about Rett Syndrome in Colorado Springs. It started on Friday and went all the way through Sunday afternoon. It was amazing, encouraging, informational and totally worth it for the experience and knowledge gained. We'll probably post more about that later.

On Monday we ran the Bolder Boulder with a bunch of Friends. We decided some time ago that it would be fun to do a running event together and the Bolder Boulder was a great first run. It is in Boulder, CO and is a 10k (6.2mi). The course winds around downtown Boulder and ends at the CU Stadium (Folsom Field).

We made Nora's Army Rett Syndrome Tee Shirts for our group that was running together and handed out cards about Nora/Rett Syndrome to bystanders. The race was exhausting (partially because the conference was mentally draining and we were low on sleep) but we had an amazing time. I think the kids had fun watching from the sidelines with their Grammas too (whom I didn't get in the video, sorry!).

I don't have time to go into much detail about the weekend or race but the video above is a compilation of shots of the race from my phone. I might make a better one if I get pics and videos from others...I didn't have a ton to work with.

Thanks to everyone that helped out both at the conference and the race. It was a really fun weekend that managed to be exhausting and refreshing all at once.

Nora Gets Her Tonsils Out

Nora got her tonsils out this morning. We had to be at the hospital at 5:30am to get everything ready for her surgery at 7:30. She was pretty cheery, if a bit hungry, as we waited for everything to happen.

The surgery went really well. We were worried about our little baby but she came through just fine. She's currently sipping on cool water, eating jello and watching some videos on the laptop. When she first came out she was really zonked but she's perking up now. Apparently the next few days will bring more pain and discomfort but she's doing okay right now.

Rett Syndrome

We got a call from Nora’s doctor on Friday night. We have been waiting for results since her appointment on July 7th. At that appointment they took 7 vials of blood for a battery of tests, one of which was for a gene mutation and collection of symptoms that are known as Rett Syndrome (RTT). Nora’s test for RTT came back positive so she definitely has Rett Syndrome and not autism, cerebral palsy or any of the other disorders that matched her symptoms.

RTT almost exclusively affects girls. A child with RTT is usually born healthy and shows mostly normal development until 6-18 months, where skills and development begin to slow. After this, the child may regress and lose communication or motor skills. They may have disorganized breathing patterns, seizures and will have abnormal hand movement (hand washing/wringing, tapping, patting). Over time, motor problems may increase but communication and interaction may improve.

It’s impossible to predict the severity of Nora’s symptoms but she will probably require special care and attention indefinitely. She will suffer from some level of Apraxia (inability to perform consistent motor movements) which can make it difficult for her to move, make eye contact, and speak. Here are the stages of RTT (not all girls move through all stages):
1. Stage I: Early Onset Stage (6-8 months)
2. Stage II: Rapid Destructive Stage (1-4 yrs)
3. Stage III: Plateau Stage (preschool to adulthood)
4. Stage IV: Late Motor Deterioration (from time ambulation is lost on...)

It is impossible to gauge the intelligence of RTT children because intelligence tests all require the use of hands, communication or other normal skills. However, it is clear that RTT kids experience the full range of emotions. Unlike some autistic children, they prefer people to objects and enjoy family and friends, even if they can’t interact normally. Some girls with RTT can communicate [somewhat] normally. Others can learn to communicate using computers, etc.

Life expectancy in RTT is not entirely known. RTT is rare, newly recognized as a disease (relatively) and is hard to retroactively diagnose in older patients due to missing or incomplete medical records. Girls with RTT have a 95% chance of survival into their twenties (compared to 98% in all females). Between ages of 25 and 40 the survival rate drops to ~70% compared to 97% in normal females. These are mostly predictions based on a fairly small group of identified cases. Only ~5% of RTT cases have resulted in death. 95% of those diagnosed are still living.

RTT appears to be a sporadic mutation and is [apparently?] not hereditary. The chances of another one having RTT is much less than 1%.

There is a variety of information on the internet and [GASP!] not all of it is accurate. The best information can be found here:
http://www.rettsyndrome.org/

Obviously, this was not the diagnosis that we were hoping for. However, we have been prepared to face the facts that Nora is significantly disabled and we took steps a long time ago to start seeking additional help for her. While finding out that your child has RTT is shocking and sad, it is nice to have a diagnosis. We now have direction and can focus on the care that will help Nora the most. Despite the physical and communication barriers she already faces, Nora has developed a sweet and silly personality. We’ll be there to help her overcome what she can and she enjoys lots of love from her family and friends.

38 weeks!

I am actually at 36 or 37 weeks here and it's a horrible picture of me (do I look like a deer caught in headlights, or what?). It is a good documentation of my tummy size, though. You can see that my shirt doesn't fit any longer.

This was taken just last night at this boy's gramma and grampa's house. I am now at 38 weeks. I kinda have a bullet shape going on, but at least this shirt fits. I look like a rosey cheeked Santa Clause, minus the white hair. Put me in a costume at the mall and I'm sure all the little boys and girls would be flocking toward me at the speed of light with questions, concerns and/or thanks for their Christmas gifts.

I am working on a "quilt" here. Maybe I should also say: "working," as I am pretending to work on it. I bought this fantastic pre-quilted material from Hobby Lobby that I thought was really cute and put some batting and a backing on it and, walla! A quilt. To make it more quilt-like I am sewing yarn in swirly designs all over the quilt. It will also help keep it together in the washing machine...A lesson I have learned from previously made "quilts."
Sorry, Punkin' Face, your quilt is one that is messed up from the washing machine. It's pretty bad though, since it was my first attempt at a real-ish quilt and it's just kinda ugly. I'll have to make a new one for her some day.

Now a little about our Punkin' Face. This picture was taken a few weekends ago at Auntie and Uncle's place. She really likes things that rock. Other recent things/updates about our little girl:

She's been doing this downward facing dog pose or, what the people at Stride call, the bear pose. It's pretty cute to see her little tush high up in the air.

Stride gave us this blue booster chair to use for a while and Punkin' Face has been standing up to it and crawling into it, which has been exciting to see. Other things she has stood up to include her crib and some low laundry baskets. Sometimes she pushes just with her arms to get to standing and other times she gets up the same way she does her downward facing dog pose. It's her little funny way of learning, I guess. The other day I walked in to her room after a nap to find her standing in her crib. It was very exciting to see. That excitement faded a little when a few days later I heard a thud and came into her room to find her on the floor, on her back crying next to her crib. I guess it's time to move the mattress down, poor thing.

With therapy we've been working on her disassociating her legs because she would always use them in unison before. For instance, her frog-hop way of crawling. She is getting much better at this and the therapist noticed a big improvement since before the Christmas break. She is crawling more the "normal" way...about 50/50 I would say. She is also crawling up to low things, like the couch cushions and her little, blue booster chair. Sometimes she can even crawl back down from them.

Stairs are another thing she is getting better at, but will not do it on her own. She doesn't get the backward, going down part yet, but on a good day with just a little prompting will crawl up the stairs (she needs prompting at each step).

Still no words...Except the other day I was playing with her with a puppy and kept saying "puppy" and barking. She said "puppy!" clear as a bell and then never again. She did the same thing when Mom was visiting around Thanksgiving with the word "peaches." Clear as a bell and then never again. So, it has me puzzled. Was it just a coincidence? Kinda weird coincidence though. Hmmmm. Makes me wonder if she'll be one of those kids who all of a sudden start speaking in full sentences out of the blue one day. ???

She jabbers and jabbers some times...or most of the time. It's pretty cute. We have these little pet store characters that we don't let her play with because she can fit the entire animal in her mouth (somewhat of a choking hazard). For a while we had them at the top of our 5' dresser. She would spot them and just start talking to them very excitedly. She does that to whatever she can't touch and wants to. At gramma and grampa's they have a ceramic moose with a plant in it that she isn't allowed to touch. She loves it so much though and always heads straight for it to chat with it. As long as we are right next to her saying "No" she doesn't touch it, but I imagine if we weren't there she would have a hay day with it and it would be in pieces all over the tile it rests on. Basically she loves anything with a face. But, she always goes straight for the head/face of these poor creatures and chomps them to show her affection, showering them with drool and bite marks. Makes me a little worried for her soon-to-be brother.

Until next time.... And please pass on the word that we've updated since it is a rare occasion that we do. Next post will likely be the new arrival. I would have liked to post our trip home before then, but I just don't think it's gonna happen that way.

Photo Says It All

Smiles for Miles

Recent events....Wifey babysat our neice. I was going to give her the nickname Blighthead but I thought my sis might kill me. I'll have to think up a better one. Anyhoo, we have a video of her dancing to the music that Nora's swing makes. Good stuff.

I have a buddy from college (whom I will refer to as Smiles) that has always kept in touch, sending interesting emails and photos of events in his life. He just married a girl that we both went to college with and invited me to their reception. So, we called up The Major and made plans to stay with them for the weekend and attend Smiles' reception.

The traffic was horrible on the way to the Springs but we made it down their safely, if a little later than expected. We got up and went on a brisk little hike in the mountains. It was the perfect distance for a relaxing Saturday excursion. We had a lazy afternoon and then Kristy and I headed out to the reception.

I got to catch up with several people I went to school with and see Smiles again. They had a beautiful wedding on the cliffs of France. A reggae band played at the reception. They were really good, Nora liked the reggae music (seriously, lots of smiles) but we were concerned that the amplitude of the sonic waves might be slightly intense for newly formed ear drums. In other words: kinda loud for a baby.


We had some delicious fajitas for Sunday lunch, I played some quick blues guitar, and then we were off for home again. I sat in back with Nora on the way home. I was reading a book to pass the time (Lawrence Block's "Hit Parade" if you care) and every time I'd look up at her she'd give me a huge smile. I love it when she does that, her little face just lights up.

Anyway, that's about all that's going on here. I know the posts are infrequent and boring but at least I'm getting some pictures up now and then.

Quick Nora Video Post

So I don't get yelled at by our readers :P

Get Rich Quick Scheme #3,654

A quick departure from baby pics for a geeky post:

Are you a slacker? Have you ever wanted to get rich quick but don't like to work for it? Let local children work for you!

Google has just released their Business Referral Program. Here's the summary of the program: Google is trying to increase their business listings on their Maps and Adwords properties with their obviously deep pockets. They will pay you $2 for each business in your local community that you provide information (such as hours and payment methods) about. You also must take a digital photo of the business. They send a postcard to the business asking them to confirm the data. If the business confirms the information you get another $8. So, you can potentially gain $10 per business listing that you supply.

Here's an equation I came up with to describe your potential riches (remember highschool math?):
d = ((n*p)*10) + ((n*(1-p))*2)
where n = business info collected
where d = desired earnings
where p = percentage business response

Here's how you leverage it. Recruit a few hundred kids from your local youth group or school. Create a treasure hunt contest where teams of a few kids go from street to street filling out a form and taking a photo with mommy's digital camera. The kids get one week to get as many sheets filled out as possible. Sheets can be turned in any time during the week. Any duplicate businesses only count on the first sheet to be handed in. Kids do not have to stay in their community. Create a few cheesy prizes based on total business sheets collected to give them a reason to compete.

Entering the data should only take a minute per sheet if you have decent typing skills.

Buy yourself something nice with the resulting treasure. Remember Jump Rope For Heart or those Magazine Subscription deals that elementary schools always sucker parents into? This is like that only you get rich :)


obligatory baby pic:

Write Your Own Caption

Kristy shot this while Nora was in mid yawn. Turned out pretty funny. She looks real mad like.

I'm sure you visitors can come up with some funny captions in the comments section.

Videorific

(If you do not see a video window above this text you may need to install the latest version of macromedia flash)
Here's the first video of Nora. One Week old...sorry about the bad color quality. My video camera doesn't auto-adjust color very well and compression compounds the problem (I can give you a technical explanation of compression resampling if you really want it).

Nora Settles In

Here are a few more pictures of our new little treasure. We are being discharged from the hospital today. It's a good thing because we were both getting a little stir-crazy in this little hospital room.

I almost went back to work today but we have a lot of stuff to cart home and get settled. I plan on heading back to work tomorrow. I could take this whole week off but it's hard for me to go a whole week without working when I'm two minutes away from my job. Makes me antsy. Plus, we're hoping to take a trip to visit Wifey's family before the end of the year...gotta save a little vacation.

We had several visitors while we were in the hospital. Thanks to everyone who came and visited. Thanks also for cards, gifts and warm wishes. If anyone is wondering if there's anything we need, yes there is: experience! You should see me trying to figure out how to clean the plumbing on something that's squirming, kicking and (sometimes) crying. Dressing the little squirmer is also a challenge.

Visitors are welcome, let us know you're coming and you don't need to bring anything!

Welcome Nora Larene

Well, this is the post ya'll ladies have been waiting for. Enough of the geekery, let's see some BABIES!

Nora was born Sunday, July 29th at 10:59AM. She weighed 7lbs 12oz at birth and was 20.75 inches long. She's content, complete and healthy as far as we can tell!Kristy got up on Saturday morning and went to the parade with Mom, her mom, Sister and some others. I got up at 6 and helped dad work on his house. We finished up at about noon and I met Bro-in-law (BNL) at my house. We hung out in the basement and were playing some games on the computer. It was pouring rain outside and I suddenly noticed that the window well had filled up halfway in about 5 minutes! Water was beginning to seep into the basement.

BNL and I dashed outside and I jumped into the window well and started bailing water with a ~gallon bucket. The water was coming in faster than I was throwing it out so BNL brought me a trash can to bail with. I kept bailing while he tried to reroute the water. A trashcan full of water has some weight to it and I had to toss the water at least five feet past the edge of the well or it would just run back in, all of this while standing in waist deep water and mud.

Wifey called right before we noticed the window well filling up and said she was in light labor and was coming home. Wifey and Mother-In-Law (MNL) got home right after we had the window well cleaned out and were working on shoveling a trench to drain the water. They went down to the basement and moved some stuff around to avoid the water. Not very much got in.

After we got the situation somewhat under control I went to Dad's and got some flexi-tube to reroute the water from my downspout. I hooked that up and then took a shower in case we had to go to the hospital.

Kristy's labor was picking up but we wanted to wait until it was more serious before going to the hospital. I didn't want to take a nap because I wasn't sure I would wake up for a solid 8 hours.

At around 9PM we checked into the hospital and, after a brief stay in triage, settled in to our labor room. Kristy and I (mostly Kristy, I didn't have much of an opinion as it would be her pain) had decided to try for a natural birth so she declined the preparation for epidural, IV and other medication procedures.

Kristy initially moved through the labor process pretty quickly. By midnight it looked like we would be having a baby within an hour or two. Such was not the case. The hours slid by with Kristy having painful contractions and me trying to stay alert and be whatever support I could. I took quick snoozes here and there, or rather, fell asleep with my face on the bed rail. Mom, Dad, MNL, Sister and BNL were also in the hospital but Dad and BNL went home to get some sleep a little after midnight.

Kristy decided to allow the doctors to start an IV around 6AM, she was dehydrated and getting pretty exhausted. She also agreed to .5mg of Stadol, painkiller, as the contractions were getting excruciating.

Finally by 10AM we were making some progress. They had tried a few test pushes earlier but things just weren't ready. This time, it was for real. With the doctor, nurse and I helping, Kristy brought Nora into the world. It was hard for me to truly appreciate the miracle of birth because I knew how much Kristy was dealing with but it was still pretty amazing.

Nora's cord was wrapped around her foot, which cuts down on the blood supply from the cord, so she needed a little oxygen when she came out. I went down to the nursery with her, so they could monitor her heart and oxygen better, and rocked her for a few hours. I nearly rocked myself to sleep so I started calling people with the news to stay awake...I don't remember any of those conversations! When we were ready to go back they had moved Kristy into the postnatal room.


Anyway, that's pretty much the whole story. The birth was mostly-natural with just a little Stadol and oxygen. I tried to offer enough details (without too much information) to satisfy you ladies, hopefully these pics will hold you over until I can post some more.


PS: Her name: We liked Nora because it's not an unknown name, most people have heard the name but we don't know anyone named Nora...it's unique. I liked Lorraine as the middle name and Kristy liked names that end in -ene because several of her family members have -ene middle names. We combined the two to end up with Larene. The last name was easy.