Spinal Tap Results

I wasn't expecting results today, but when I checked email from home sure enough a message from the Cleveland Clinic was in my in box. Interesting I just posted something about how Mitchell seems to fit some of the characteristics associated with Mitochondrial Disease, because the letter from the doctor states...

"Spinal fluid analysis is normal for routine studies, lactate, pyruvate, glucose, other amino acids, neurotransmitter amine metabolites, tetrahydrobiopterin, neopterin, 5-methyltetrahydrofolate, & succinyladenosine. Concomitant plasma amino acids and glucose were obtained for comparison prior to performing the LP. A chromatographic peak associated with cases of pyridoxine/folinic acid responsive epilepsy was not seen.

Of note, his blood glycine is slightly elevated as well along with his AST level (a muscle and liver enzyme).

The recently completed evaluation showed moderate elevations in blood and spinal fluid alanine. This finding while not diagnostic, raises the concern of mitochondrial dysfunction."

Additional tests have therefore been recommended to add specificity. Along with blood tests, there was reference to additional muscle biopsy tests - not sure yet if that means testing on tissue already being stored or whether a fresh sample from another surgery is expected. It's likely we'll go back to the Cleveland Clinic for any such work.

Chris asked me what my thoughts were on this. My first reaction was...well at least the trip was worth it. We got some sort of finding that gives us something to go on. But after a brief conversation, it almost seemed like a non-event. We're so used to getting complex, somewhat vague results.

This gives me a good opportunity to let you know Mitchell's actually been doing quite well lately. We are convinced his eyesight has improved. Given enough time, if we are still and quiet with no background noise, we think Mitchell looks at us. He looks, looks away, looks back then away again and then... smiles! It's wonderful!

Furthermore, when he first wakes and we take him from his dark room to the fluorescent lit laundry room where we change his diaper, he now squints just like we do as his eyes adjust to the light. He's also gripping better on occasion. He has stretches when he gets up during the night, but then he goes right back to an all night sleeping rhythm.

I sometimes wonder whether all this is okay to share from a HIPPA perspective. Then I think this is a pretty closed blog and I appreciate knowing there is a community of friends and family out there who are following our little story and appreciate the details right along with us. Bless you all!