testing

Monday, December 5

So that Neurology appointment last week...

Our new doctor, Dr. Collins, at Children's Hospital is quite amazing.  We went in for a follow-up exam to discuss the results from the MRI, Spinal Tap and blood work done over the last few months.  Dr. Collins apologized for the confusion regarding the abnormal result of methylmalonic acid.  The lab performed a urine test for methylmalonic acid which she is said is highly unusual.   She meant for a serum test to be done.  She told us that she would consult with genetics to understand if the abnormal urine result should be investigated.

So, according to Henry's neurologist, all of his bloodwork is normal.  His MRI was normal.  However, considering Henry has ataxia, Dr. Collins has narrowed down the list of possibilities down to three diagnoses.  Before you read this, and if you are the praying kind, please say a quick prayer that our Henry never receives a diagnosis.

Test results for Frederich's Ataxia-  around December 18th
Christmas
New Year's
Test results for Calcium channel ataxia- around January 20th
Test results for mitochondrial ataxia- end of February

None of these possibilities are good.  I can deal with our current state of affairs.  In fact, I realize how good our life is given this list of possibilities.  Henry is happy and loved and we will continue to try to make things the best they can be.

I read this article in "The New York Times" a few weeks ago and it was so poignant... I love the title too.  The idea of the Tiger mother really annoys me, but a Dragon mother is one I understand.

http://www.nytimes.com/2011/10/16/opinion/sunday/notes-from-a-dragon-mom.html

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