NIH round 2

This Thursday and Friday Haleigh will be returning to the NIH for more testing.  She will be sedated on Friday as they perform an Electroretinography test. 
We were also informed that the first round of chromosome sequencing came back and she has a marker on a chromosome related to Peripheral Neuropathy. (Peripheral nerves carry information to and from the brain. They also carry signals to and from the spinal cord to the rest of the body.  Peripheral neuropathy means these nerves don't work properly). To test for this they will do an EMG and Nerve Conduction test.  (An electromyogram (EMG) measures the electrical activity of muscles at rest and during contraction. Nerve conduction studies measure how well and how fast the nerves can send electrical signals).  Josh and I will also get this test done since it is a Dominant gene.
No diagnosis yet but things are starting to come back so its a start.  The nurse said the lab will now start the next level of breakdown with the DNA.  Fingers crossed.