Wednesday, December 16, 2009

Lilly saw Dr. Lane Rutledge (pediatric neurologist, geneticist...and metabolic expert :-) this morning for a follow up from her hospitalization Sunday/Monday. Her reflexes and tone seem to have returned to normal...for Lilly. It appears that Lilly at times will wax and wane between hyper tonic and hypo tonic especially during periods of illness. After her negative reaction to the spinal tap done Thursday in Atlanta, these reflexes were exacerbated by a small about of spinal fluid displaced in her spinal column against her spinal cord. The fluid sack pushed her cord anterior, causing extreme reflex changes, headaches and vomiting.
Have no fear!
Lilly will not be undergoing any more spinal tests including Lumbar Punctures or CT Milograms unless vitally essential to her health! As for now Lilly is walking, talking and responding normally and unless any of these things change...we are in the clear!
Have a Happy Holiday everyone! Thanks for your prayers and support!

Thursday, December 10, 2009

Huge News

We just returned from seeing genetic expert Dr. John Schoffner in Atlanta. His preliminary analysis of Lilly's past muscle biopsy, MRI, CT scan, Blood work, medical history and current progress is that Lilly does NOT have a mitochondrial disease but instead a metabolic disorder.

Which one we don't know yet, so he ordered a repeat skin & muscle biopsy, lumbar puncture along with other tests that will give us, "an answer." These are words John and I thought we would never hear and we are so excited!

For now we are rejoicing in the fact that whatever caused Lilly's small birth weight (4.15), congenital hearing loss, low muscle tone and abnormal white matter in the brain is not a malfunction on a cellular level (generally poor prognosis) but instead on a metabolic level (treatable!)

It will be 10-12 weeks before the results are conclusive. At that time we will meet again with Dr. John Schoffner ( our hero ) and discuss treatment and management options. In the meantime we are adjusting some medications and approaching nutritional issues a little differently. Thank you to everyone for your prayers and support- from CMV, to Mitochondrial Disease to Metabolic Disorder - but you know what?! All the while, our Little Lilly has just been our Lilly! Thanks for helping us love her just the way she is...the way He made her! Peace!