EEG Results & W.E.S.

Well, sorry folks. I just realized that I never went back and posted the results of Henley's EEG from January 10th. As expected everything came back "normal" as in "no seizure activity" during the 24 hour period in which she was being monitored. This was no real surprise for us, as the other 3 EEG's she has had over the years have all come back normal. In other words, we still have no answers for the 9 seizures Henley has had to date. 

In addition to the EEG, Adam, Henley & I all had blood drawn for the WES (Whole Exome Sequencing) This is currently the most advanced genetic testing available and has only been available for the past year. It takes 15 weeks to get the results back, so we are hoping to hear something around the first week of May. This test is used for those patients who have pretty much exhausted all of their options in trying to get to the bottom of their medical problems. Since we are going on year 4 of trying to get things figured out, they felt like this second round of genetic testing would be beneficial.  

In addition to Henley having Chiari Malformation we were told before her surgery in 2012 that she had a very rare genetic abnormality. Her genetic condition is actually so rare that it doesn't even have a name. It is only known at this point as 16p11.2 microdeletion. After finding out about this in December 2011 we met with a geneticist who told us that there was really so very little known about this genetic condition, and that hopefully in a few years they would know more about it.  

As helpful as that statement was.....we were dealing with so many other things at the time, that we decided to put that information on the shelf and re-visit it at a later date when we could actually sort through and process that information. That date came two years later in January of this year (2014) when I decided to pull the micro-array genetic testing results out of a file and start digging in to see what I could find. 

I spent several entire days glued to the computer researching everything I could get my hands on having to do with 16p11.2 and what I found was shocking. I located a database that pools databases from all over the world together to link people who have the same genetic issues. After registering Henley in the database I found that she was only the 307th person IN THE WORLD to have the same deletion. I found people from every single country out there and it was fascinating. Now, that certainly does not mean that there are only 307 people to have that genetic issue, that is just out of all of the people who have had the genetic testing and been put into SOME database somewhere in the world. Either way, its pretty rare. I have sense made contact with a few other mommies of 16p kiddos in other countries and we have been comparing stories and our own research findings. We actually might have the opportunity to meet some of the other families this summer. More on that later. That is all for now.

As my best friend would say "Thanks for listening"