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.

Happy 2 Years, Nora!

Our little girl is already two years old. It's so hard to believe. It really does feel like we brought her home just yesterday. Such a cliche thing to say, but so true.

Parenthood really is such a bittersweet thing. Mostly sweet, but I'm always wanting my kids to stop growing up so fast... sort of, not really... there's that bittersweet thing I was talking about. :)

Canon Rebel XSi

Those of you that pay attention to my twitter or facebook will know that I haven't shut up about the DSLR that I ordered roughly a week ago for the last week. I have always wanted to try my hand at digital photography with a piece of equipment that has enough flexibility to capture the vision in my mind. If you know me you'll know that I'm a little bit artist and a lotta bit geek. Photography allows me to enjoy the artistic composition and visualization of a shot while satisfying my geek side with a shiny piece of electronics that has a ton of tweakable settings.

Kristy also really enjoys photography so the Canon Rebel XSi (a very popular DSLR amongst amatures) is our birthday present to each other.

The box came in right before I got home from work today so I quickly set it up before we went to mom and dad's for supper. There is so much subject matter there, I could shoot for hours. For one, the sun was coming in strongly as it set, which always offers the opportunity for "moody" shots like the one at the top of this post. Their house itself is interesting and it just seemed like every time I turned around there were things to shoot.

I recently set up a gallery site to make it easier for us to share photos. I have posted some of my better shots at a gallery I installed on one of my web servers. You can quickly page through thumbnails or medium images. If you click on a medium size image you will get the full version. I resize them down a little for the web but there is still plenty of detail.

Camping and Visit to Children's

Camping Fun!

Over the 4th of July weekend we made plans to go camping with some good friends up in the Snowy's. We had a great time and wished it wasn't such a short trip... well, mostly.

Some of us slept... others didn't sleep so much.

Some of us went on a bear hunt and then ran away from the bears.

Some of us played in the sun... and got left in the rain for a few seconds, but no longer, I swear.
Others hung out in the back of the van... The only spot some of us won't eat rocks and pine needles.

All of us hung around the campfire and ate hot dogs, sweet corn, peas, watermelon, roasted marshmallows, s'mores and sang/listened to campfire songs...

some while sitting in new campchairs 'cause their dad sat in their pink Dora chair and broke it. No names.

The Johnson family clan.

The Mountain Man himself. A great camp fire cook!

Mountain Mama and Miss Braids exchanging flowers and sweet looks.

The Trip to Children's in Denver (Aurora)

This was our waiting room. At first I thought it was just ours until more people walked in. I wondered why they had separate waiting rooms and figured they must use the rooms sometimes for other purposes than waiting.

Nora having her milk... she was just waking up from her nap since she woke up at 5am. I'm so glad she took a nap. She was in a good mood the rest of the day.

Coen in the waiting room. Big, big eyes!

We waited more in the hallway after our initial meeting with 4 or 5 doctors...maybe six?
Coen fell asleep nursing so I put him in the Caddie. It's the name we gave our giant, wonderful stroller.
After all the doctors saw Nora and talked with us we got sent over to the main building for some blood tests and urine sample. Poor girl had, like, 7 vials of blood taken, granted they weren't all filled up, but I sure thought it was a great deal of blood taken from someone so small. Before that we tried to get a urine sample from her by taking off her diaper while she stood up which usually works when we are about to give her a bath. Of course it didn't work this time so poor Nora had to be bagged. The bag stuck out of her diaper so we could see when she went. So, we went to eat while we waited for her to go. In the main lobby it is all wide open (let me just tell you right now that this place is absolutely amazing. The tile, the walls, the art work on the walls, everything amazing). Anyway, this is looking up in the main lobby.
This is on our way over to the main building which is behind Hubby here.
After the whole ordeal we walked around for a few minutes longer. Here was a really cool ball coaster that just keeps going and going. It was pretty cool.
On our way out these bunnies caught my eye (cute). I just loved all the artwork they had everywhere.

Strapped in and ready to go home. You can see Nora's mosquito bites all over her face from camping. I felt kinda dumb explaining that one to the doctors. Perfect timing, right?

So, long story short is that Nora needs to have a bunch of medical tests done now because they couldn't diagnose her with anything yet. So, we begin the journey of figuring Nora out. It may take us/them a while, but it was nice to get the journey started. Now I will try to get some video posted.

Nora is Cool!

Nora is still really good at being cool. Just a little update. In case you didn't know.