Wednesday, December 17, 2014

Day 2 testing complete

Today William got evaluated by physical therapy, speech therapy, Dr. Escolar, had an MRI and a lumbar puncture.  The MRI was to check the progression of the neurological damage; Pittsburgh has the highest resolution MRI in the nation.  The results of that MRI can than be compared to the MRI William had a month ago in Salt Lake City.  We will talk to Dr. Escolar about those results in the morning (Thursday) to see how quickly his neurotransmitters are deteriorating.  The lumbar puncture was to draw spinal fluid to identify which of the 150 mutations of Krabbe Disease he has; this information helps predict the progression of the disease.

The results of the physical therapy exam along with Dr. Escolar's exam indicate his motor development is substantially delayed, however, his receptive language skills are advanced.

Tomorrow, we will meet with Dr. Escolar, he will have a vision and hearing test, and we are going to consult with the doctor that does the bone marrow transplants.

William is resting after such a busy day.

Thank you for your continued support.
Love, Robert, Abbey and William

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