Friday, September 2, 2011

Clear as Mud!

Sorry about the confusion that my last post has caused.  I've had a lot of people ask me what our latest news means and if it confirms that the kids are just carriers of AGS instead of actually having it.  So, here is a little more information, I don't know much, but hopefully this will help clear it up a little bit.

First off, the fact that they did not find a deletion does NOT confirm that they do not have AGS.   It just brings us back to maybe they do, maybe they don't. The genes causing this form of AGS (AGS5) were only discovered a little over a year ago, so there are still many unanswered questions about it.   Dr. Crow also believes that there is at least one other type of AGS whose cause (gene) has not yet been that may somehow play a role as well.  

So, what we do know for sure at this point is that John, Annalise and Bryce are definitely carriers of AGS5.   (We will need to have the other boys tested sometime in the future to find out if they are carriers as well)   We also know that carriers do not usually show symptoms or if they do, they show up later in life and much more mild than what Bryce and Annalise have, often it's inflammation and Lupus like conditions I believe.  

So something more than just being a carrier is going on...either they do have AGS and we just haven't found out the other defective gene, OR it may be some other type of LD which is not currently able to be diagnosed through testing, OR, it may be completely coincidental and they could have something totally different that just looks a lot like AGS Leukodystophy.  Clear as mud?!  I thought so.  = )

Hopefully that helps some.  The fact that it is not totally clear to me makes it really difficult to explain it and have it make sense.  Basically though, the bottom line is that we seem to have stumped the experts yet again and we really don't know any more today then we did 2 and a half years ago when this all started.   ...and so the journey continues!


The Hauer Family said...

Oh--I gotcha:) Same thing with Ryder also..with PMD or PMLD or looking a lot like it--uugh!

Gr8Life said...

After 2.5 years of this I hoped this testing would give you the information you needed. Sorry your not any closer to knowing than you have been♥