Genetic counseling turns into mama counseling

Monday, July 28, 2014

So on Friday I went and met with genetic counselors to discuss Dravet syndrome more in depth. My neurologist said it wasn't necessary and I am so glad that I didn't listen to him.  It was very informative, and I wish we could have met sooner. They did a lot of research for us and were able to explain her specific SCN1A mutation in a way that I actually understood. It's a splice site mutation in case anyone is into that sort of stuff.  The way they explained it the splice site mutation and how it changes the protein is pretty bad and can cause more severe end of the spectrum.  But they assured me that two people with different gene mutations can have drastically different outcomes and not to get worried about comparing at this stage.  Basically, as I have said before they said it is a guessing game, no one can predict how she will fare in the long run, not even the gene mutation itself can give any clue on her future.  They went on to say that we needed to continue doing what we were doing, finding resources, researching treatments, neurologist and above all not loosing hope.  As they said several times we have no reason to not believe that she will be one of the few with Dravet that end up on the mild end of the spectrum.  We can't let go of that hope. I cling to it.


Then at the end of the session the doctor who had thick Eastern European accent looked right into my eyes and said I needed to start taking care of myself.  I guess it's become obvious to other people that I am falling apart.  She said I had to find some sort of balance and to not let this destroy me. I have to keep up hope for all of my children, at which point I got teary and it felt more like a counseling session.  By the end of our time I had regained a sense that everything was going to be ok.  Not in a my life is perfect and worry free sort of way, but no matter what happens with Paloma I believe it will be ok.  And while I am still on great terms with God right now, I believe He will get us through this somehow.  And only on the other side will we be able fully to understand the why. 

Ok enough deep talk, I will leave you with a picture from this morning.  Who can resist babies and puppies?




1 comment:

  1. Lindsay, I'm reading your post, trying to look at it daily. You are doing great, abd those girls are blessed to have you as a mom. I love you dude! Jr

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