Wednesday, June 15, 2011


I am sitting here with an envelope full of 69 pages of Eli's report.  We got it this afternoon and have already read thru it like 5 times.
Stage 1 of our journey has finally ended.
We found out at 18 weeks of pregnancy on July 28th, 2009 that there was a problem with our little man.  We found out today at 18 months of age what that problem is.

Eli has Mitochondrial Disease Complex I and Complex III and OXPHOS.  He also has multiple deficiencies, immune system issues and multiple other things. 

I am sooo relieved to finally have an answer, but heartbroken as well.  Not having 100% definitive results gave that tiny glimmer that they could all be wrong, and that glimmer is completely gone now.

We are unsure what's next.  Atlanta wants Bob and I to come for a long sit down talk with them.  Eli's pediatrician here is getting rush appts with neurology and genetics.  
I am slightly dazed as I can't believe we are here, that this is truely the road we are on. 

Right now I don't have much to say as we as a family are still trying to absorb it all.  I will update more in a few days.  Right now I just need to snuggle my little man.


Jancy said...

Hold tiny man really tight, give him all the love you can, and I will pray for miracles! Love you all and will be praying not only for Tiny but for you all as well.

Rachel said...

I have been closely following your family's journey, and I just wanted you to know that my thoughts and prayers are with you. You have a wonderful support system and a magnificent group of children. Give those precious kids some extra snuggles.