The Effects of Mito on the Body

The Hunt Is Over...The Ugly Truth.

Mitochondrial diseases are fatal. The thrill of the hunt was rewarded with a death sentence for my beautiful boy last week. I have not had much time to sit and reflect on what this means for my little family. I am still spending a lot time and brain power at my new job trying to learn everything. I am trying to forget about Mito for as long as I can, maybe pretend it doesn't even exist. I mean how can something so horrible happen to families like ours? Why would God create a beautiful life and take it away so early? "Really, God please why, why him?" I find myself thinking more then I care to keep track of. 

This is a little bit of the updated addendum from the metabolic/genetic counselor/neurogenetic docs notes from Kennedy Krieger this summer. 

-Plasma amino acids and TCA intermediates were reviewed and interpreted by Dr. Kelley as follows: plasma amino acids showed elevated glutamine, alanine, and threonine, as well as low methionine. Together with the TCA profile showing high ratio of isocitrate to 2-ketoglutarate, this suggests complex I deficiency. Even though a molecular defect was not identified in mtDNA or the 101 nuclear genes tested, there is sufficient evidence of mitochondrial dysfunction that Dr. Kelley recommends treatment with L-methionine and carnitine.

-Robby's mother was found to carry the Xq28 duplication. The clinical significance of this duplication, if any, is still unknown.

These results were discussed with Robby's mother by phone. I explained that we still do not know the cause of Robby's condition. It is possible that there are a combination of factors going on (e.g. mitochondrial dysfunction plus the chromosome duplication). We do not have recommendations for further testing at this time. We can re-evaluate Robby from a diagnostic perspective at his follow-up visit next year. 

This addendum was electronically signed by: Julie Cohen, Sc.M., C.G.C. Genetic Counselor
Date: 11/09/2012 at 2:45 PM 



So there it is. The ugly truth that I was expecting the past number of years. But now that it's here I wish it would just go away. This all hurts too much.

I'll try to keep updated better. Life makes me crazy, but writing, no matter how short the entries are, makes me feel better.