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.

RegRETT Syndrome

To the chagrin of tomorrow's self, I owe it to Nora to open the doors for a minute tonight.

Tonight we went to the painter's house, had dinner, and stayed late playing games. It was pushing 11pm by the time we got home. Coen was fast asleep and there was much to carry in. The snow was falling steadily (in May!) and the ground was a muddy mess.

Kristy headed to Coen's room with our sleeping adventurer. I carried our stuff in and went back to the cold, semi-dark van for my little Rett girl. As I slid the door back, the lights came on and lit up little snow flakes that drifted down to melt on her cheeks. She smiled the biggest, crinkly-eyed, toothy smile at the snow and her daddy and snuggled up to my shoulder in the short, cold trip to the house. There was no accusation in that smile.

I thought about her hopping after the other kids all evening, nobody playing with her. Her younger brother keeping up with Haley and sharing toys and laughing together. Nora, content just to be around the others. While mommy and daddy had fun with their friends and brother played with his friends Nora explored, alone, a world she can barely interact with. Later, while she enjoyed her bottle of warm Almond milk, warm drops replaced the chilly snowflakes on her cheeks as daddy's regret and guilt overflowed.

I wrote these verses for Nora shortly after we found out she had Rett Syndrome. I don't claim that they are good but they are inspired by a little girl who can walk through walls.

My little tree, in verdant grove it grew.

It seems that nature dealt a loser's hand:

For though the trees around stood tall and true,

mine struggled to survive upon the land

To other trees, new growth was easy play.

For mine each tiny branch was hardly won

It pained to watch the struggle every day,

but joy, we shared, at trials overcome.

Surrounded by the tall, the strong and free,

my tree, both sparse in leaf and frail in root,

may not produce in size or quantity.

Yet still, it grows the sweetest kind of fruit.

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.