Probably not Muscle-Eye-Brain Disease!

Ah the things we celebrate these days. Well this is good news. My friend the Amazing Anne connected me with a study at the National Institute of Health where a doctor reviewed Lydia’s case for Muscle-Eye-Brain Disease (MEB). I sent everything to them – MRI, EEG analysis, blood work results, genetic test results, etc. I am very grateful that they donated their time to review her case. Here is the email I received:

Dear Danae,

We reviewed Lydia’s records yesterday. We do not feel that her symptoms are consistent with muscle eye brain disease. There are very specific signs that are seen on the MRIs in kids with MEB disease and we did not see those in Lydia’s imaging. Additionally, kids with MEB typically have a significantly elevated Creatine Kinase level (a muscle enzyme) and this was normal in Lydia. We do feel that Lydia would benefit from being seen in the OHSU epilepsy clinic. Has she been seen there?


So it’s one thing off the list and at this moment I’m feeling relieved. Let’s just leave it at that.

A long shot, but if anyone happens across this blog who knows someone or is suspected of having MEB, here is the link to Sandra at the NIH who is conducting the study. (as of November 2013).