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!

1 comment:

  1. My daughter Lily has a metabolic disorder as well and I just stumbled across your blog! Please let me know if there is anything I can do to help! It sounds like you have a great medical team working with you, and you are getting answers and resources. I am thinking of all of you and praying for Lilly!
    Sarah Kordis