August 24, 2009

Mahogany Gibson Les Paul Studio

Astute musicians amongst you will know that the guitar legend, Les Paul, just passed away. I've wanted a Gibson Les Paul for quite awhile. I originally didn't like them but while I worked as a guitar tuner for a Wisconsin band one summer, I really built an appreciation for the playability, versatility, beauty and history of the Les Paul.

Today (well, it's almost yesterday at this point) we had an appointment for Nora. On the way home we stopped at one of my favorite places: Guitar Center. I've had my eye on various versions of the Gibson and Epiphone Les Paul guitars. The Epiphone versions are similar in playability and about 30-50% of the cost of their Gibson brethren but really lack in both aesthetics and hardware quality (which is very important in an electric).

Long story short, I fell in love with a solid mahogany Gibson Les Paul studio and had to take it home with me. It is really a beautiful guitar with an excellent sound and very, very nice playability.

I had to post this tonight because some of my fellow guitarists saw my Twitter and wanted to see pics! Here you are my friends...the pictures don't tell how it feels to play but it shore is purty too :)

August 22, 2009

Coen the Libwawian

So, our last post was a bit depressing. Here's a funny, cute pic of Coen to lighten things up a little! Unfortunately I only have a low resolution version on hand. I might replace it later if I remember...

August 10, 2009

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:

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.