Wednesday, December 19, 2012

Neuro update

I hate when I ask a question, get the answer, then find myself with more questions....

So we are 6 weeks out from sending Cadence's chromosomes off to see if they can find the Sotos gene mutation.  Because I have zero patience I've already called and they have not heard anything back and probably won't until after the holidays.  

We are also about that far out from our last visit to neurology.  Because we are now looking at Sotos, and there can be brain abnormalities and seizures associated with that, I wanted to know if we should have another MRI or if we could have his earlier MRI (done about 2 1/2 years ago) re-read to look for this.  I went in wanting to have another one, just to be sure.  But his neurology nurse practitioner reminded me that he has to be sedated to do that, so it's not a test we just want to jump into.  Not to mention it ain't cheap! So she said she would check with neuro-radiology to see they could just re-read it in light of this.

As always, I had to call them to get my answer.  I was pretty surprised when the nurse called back to say that his MRI  was originally read as normal, but now that they've re-looked at it, they do see several of the associated abnormalities.  I haven't been able to get a lot of information on these "abnormalities", but they did say that it was all subtle.  She said they are now waiting to hear if they can just "amend" his original MRI to reflect these new findings, or if they'll have to do another to have it documented.

Now I want an MRI more than ever.  

I'll wait until after the holidays and until after we hear about genetics, but I have so many more questions now.  I want to know what this means for his seizures.  I want to know if there have been any changes in the last 2.5 years.  I kinda want to know why what was normal then is abnormal now.  But, we've been waiting this long, what's another couple of months.....

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