emme

     About five months ago, I started worrying a little about Emme. She wasn't holding up her head yet.  Most everyone said not to worry, she would do it at her own pace. I was still worried, so we had an occupational therapist check her out.  She diagnosed Emme as having low muscle tone... and told us not to worry.  It wasn't just the missed milestones, she was also tiny.  Again, everyone just said I shouldn't worry.  Then, at Emme's six month check up, she failed a hearing test. Further testing confirmed she is profoundly deaf. The doctor was finally concerned, and referred us to a neurologist. 

     The neurologist ordered an mri, a ctscan, an echocardiogram, and bloodwork.  We saw him for the results last month and he diagnosed Emme as having leukodystrophy. He ordered another mri (spectroscopy) and more bloodwork to determine which leukodystrophy she has.  We see him again in about two weeks for those results. 

     I had never heard of leukodystrophy before so I googled, probably excessively.  I have a pretty good guess as to how the test will turn out.  I think it's Canavan Disease. Basically though, leukodystrophy is a degenerative brain disease that will take her away from us long before I'm ready.  I really am doing well most of the time; I'm ready to enjoy what time we do have with her...whether that's days or years.  We don't get to choose who our kids will be or how long we get them for, but each one is a blessing.  I love that I get to be her mom.  She's so sweet, full of smiles, and absolutely beautiful, isn't she?