Thursday, December 15, 2011

Trace GI Update

Trace had a visit with Dr. N on Tuesday to discuss the GI problems he has been having the last couple of weeks.  I'm happy to report it was a good visit!  All his labs came back negative and Dr. N said it was probably viral gastroenteritis.  He said Trace should continue to get better, which he has been all week.  I want it to stay that way through Christmas.  Dr. N thought Trace looked really good and kept raving on and on about it.  I guess he must have looked pretty bad at the last visit.  Despite the diarrhea, Trace gained a little weight, which is amazing!  We have worked really hard for the weight he had gained and I didn't want this to knock him back down.  I don't think anything excites me more than a good doctor visit!  Trace was excited too, as Dr. N let him pick several stickers out for his birthday and gave him big birthday hugs.  It made his day, it's all about the small things.  He held his stickers all the way home, even in his sleep.  Wish I could have snapped a picture, but that wouldn't exactly be safe while driving in traffic. 

In other good news, I received a call last week from Transgenomic letting me know that Trace was next on the list for the NuclearMitome Test.  Hundreds of nuclear genes have been identified as causative for mitochondrial disorders presenting as neuropathies, myopathies or liver disease, or are recognized to be important for mitochondrial function.  Enabled by next-generation sequencing technology, the NuclearMitome Test provides comprehensive sequence analysis of more than 400 nuclear genes that may affect normal mitochondrial function.  We are hoping this test can tell us what genes may be affected and therefore give us a better insight on treatment for Trace and his future.  If nothing else, geneticists and doctors may learn something from Trace's test which could benefit future children affected by mitochondrial disease.

Please keep all of our mito babies in your prayers.  As the cold/flu season is here, it can mean a lot of children inpatient due to illness.  A virus most people would be able to fight off could be detrimental for a child with mito.  My Christmas wish is that all of our mito friends enjoy Christmas at home with their beautiful children.  Love them all so much!

Hope, Love, Courage &Faith,

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