Friday, January 7, 2011

Autumn Today

Autumn is very creative, enjoys music and anything crafty, and loves playing dress up.  She is very good at visual tasks – like puzzles.  If I’m not paying attention, she can easily beat me at Memory.  She is enjoying Kindergarten, and it is so much fun watching her learn to read.  So far, we are not seeing any academic problems at school.  She attends speech twice a week, with a focus on social speech.  The physical therapist comes to see her every 1-2 months.  Though she rarely talks to anyone she doesn’t know or in new situations, she is communicating more at school and enjoys making friends.

Autumn has been put to sleep at least 8 times for medical test & procedures (for MRI #1, endoscopy, ear tubes #1, MRI #2, muscle biopsy #1, ear tubes #2/adenoids, MRI #3, muscle biopsy #2).  After she was adopted and added to our insurance, she was finally able to go to Medical Neurogenetics in August of 2010.  (If you recall, it’s in Atlanta, and she could not go with Medicaid as her only insurance.)  The two days we were there were packed full with doctor visits and tests.  The first day, one of the tests they performed was a Resting Metabolic Rate (RMR).  It showed that her RMR is 58% of what it should be.  The second day, they put her to sleep to perform another muscle biopsy, a skin biopsy, a spinal tap, among other things.  They discovered that she has a cerebral folate deficiency.  The folic acid is in her blood but is not making it to her brain/spinal fluid.  They put her on Leucovorin (folenic acid), but she reacted negatively to the medication, and we had to take her off of it.  This was a disappointment because there was a possibility that fixing the cerebral folate deficiency could have corrected all of her remaining issues.  We return in February 2011 to find out about the rest of the test results.  They have been running many tests on the samples they collected during our visit.  They are still not sure at this time whether or not Autumn has a mitochondrial disorder.  People with mitochondrial disorders, at some point, begin to lose functions – it’s usually triggered by an illness or high fever.

When Autumn was younger, she had great fluctuations in her walking, speech, etc.  Though she still has fluctuations, they are not as noticeable as they used to be.  Many people don’t notice the problems she has with balance and coordination, especially if they only see her walk for short periods of time and it’s inside, near walls, etc.  She tries to run, but her coordination gets worse the faster she goes.  Though it still takes a lot of thought, she has learned to jump with both feet.  Steps are still difficult.  The fluctuations now mostly happen when she’s sick.  It’s often the first sign that she has an illness coming on.

When he’s not driving her crazy, she enjoys playing with Silas, and they are the best of friends.  People who don’t know our story will say they can tell she’s ours because she looks like Criss.  We just smile.

“The thief comes only to steal and kill and destroy.  I came that they may have life and have it abundantly.”  John 10:10


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