Our Natalie: Ready or not, here we come 2012!

Natalie's blood test came back "sort-of negative." The test was for a congenital myasthenic syndrome called RAPSN gene sequencing. In other words, a vary narrowed down DNA test. What the "sort-of negative" result tells us is that Natalie does not have this particular syndrome however we are headed in the right direction. Our next move is for her to have an EMG. They will test her for a delay in what is called the neuro-muscular junction. This is where the nerves talk to the muscle. Natalie's doctor believes that there is a big possibility that there is a delay in the two talking to each other. The EMG will give us a definite yes or no. If we get a yes we will start her on 1of 3 different medications that will help improve the communication between the 2 which will result in a much quicker development. If the EMG does come back saying Natalie's issue is in her neuro-muscular junctions then we will know what her issue is. However, what is causing it will still remain a mystery.

Natalie's doctor asked permission to enter her into a Federal grant medical study being called the next generation of DNA testing. It will allow us to test Natalie to an extent humans have never been tested. It simply requires 1 test tube of blood and a slew of questions. While she is being tested under this grant all of her medical costs and care will be paid! This testing will allow Natalie to be tested for more DNA abnormalities. We're excited that she will be part of a program to help future parents and kids in our position. This program starts in January but the actual blood tests won't be taken until early spring.

Here's an update on what Natalie can do now.