small updates on mabel {no real news.}

Yesterday Mabel had a routine follow up appointment with her neurologist.  As long as she is having seizures and being treated for them we will see Dr. K every three months.  While we were there, we talked about her night cry and decided to increase her melatonin amount in the evening.  She also told me that some of Mabel's tests from her muscle biopsy were probably in.  She assumed that they probably weren't going to call until all of the results came in. 

When I got home I decided to email our genetic counselor for an update.

Today she called. 

Mabel's blood test for the condition that our friend Ethan has, peroxisomal biogenesis disorder, was normal.  Pamela had told me awhile back that she believed the test would be normal, mostly because children with PBD don't usually get teeth as early as Mabel did. 

Under a normal microscope, Mabel's muscle looked good.  We knew it probably would.  Testing for mitochondrial disease is deep and intense.  On the surface, it all looks good and normal.

One of the tests that we are still waiting to come in is the electron microscope test and that can take another 4-6 weeks or more.  This test will look much deeper into the muscle and hopefully reveal more about what could be happening deep inside our girl.

There are many tests ran on the enzymes in the muscle as they change.  Most of the enzymes looked (you guessed it) 'essentially normal' but the respiratory chain muscle and enzyme test was a little "unclear."  It did show some mitochondrial proliferation. 

In simple terms, as I understand it, that enzyme is making too many mitochondria. 

As of now, not many other details were discussed because until we have the 'very comprehensive mitochondrial DNA' test back it is unclear whether this means something or nothing. 

I was happy to get some news.  But I can't tell you how hard it is to wait, and not know.

Last night was a rough one.  Rache and I sat and talked for a couple of hours.  I felt connected with God in very deep ways but connected to my sadness even greater. 

Our sweet girl...{sigh}

More tomorrow.  Sorry for all of the medical talk that most of you won't understand. 

I don't even understand most of it myself.  But I can't forget it either.  I need it to always be here. 

Thanks for loving us...