I have been keeping some news. I wasn't going to say much until we had rock solid answers but some things pointed people in the direction of concern and I was emailed multiple times today. We didn't mean to concern anyone or make anyone worried. We just didn't want to put this emotional burden on others as well until we knew for sure. So many of you already know from facebook, but those of you not on facebook don't. So here's all the info in a very small nutshell.
It was pointed out last week that Eli fit ALOT of symptoms for a certain disease. Upon researching it, I was shocked. It explained almost everything about him. I got to calling doctors and his genetic team. Sure enough everyone was in agreement with me. So here we sit. We meet with everyone and are pulling files. Testing will be done, referrals, travelling, more testing, etc, etc...and then a diagnosis or not. We wanted a diagnosis so badly but definitely NOT this one. Mitochondrial Disease, better know as Mito.
We are still absorbing this as a family, and so are many of his docs. We have no idea what to do or where to go from here. I'm scared and I don't want to do this. This isn't a road we ever expected our journey to take us down. We had always expected therapies and meds and surgeries and cures. We hadn't expected an easy road, we expected tons of bumps and curves and detours, but we expected the ending to say "and they all lived happily ever after". Slowly but surely that ending has been ripped away and with this diagnosis will completely vanish.
Again this is NOT a guarantee yet. It is definitely suspected, but has NOT been proven yet. We will keep everyone updated along the road of testing. We meet with doctors over the next 6 weeks to finalize the plan and what everyone thinks. At the end of those 6 weeks we will have a pretty darned good idea of what next.
We continue to ask for everyone's prayers, mediations, kind thoughts, hugs, words of encouragement, emails, etc. We need them now more than ever.
2 comments:
There are several categories of mitochondrial disease. I suspect MERRF syndrome or Diabetes mellitus and deafness (DAD)
See here:
http://en.wikipedia.org/wiki/Myoclonic_Epilepsy_with_Ragged_Red_Fibers
http://en.wikipedia.org/wiki/Diabetes_mellitus_and_deafness
I'm not so sure on either of those. He doesn't hae epilepsy, although there are some things people wonder if could be very tiny seizures, and of course seizures could start at an older age. But as of right now it doesn't sound like it fits.
on the Diabetes mellitus and deafness the only thing he has is the hearing loss. His blood surgars have all been good.
Thanks for the suggestions and it is definitely something we can look into more!
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