Results....Finally!!

After more than two months, we finally received the results from Caleb's muscle biopsy today.  We made this appointment back in October before anything had been scheduled but it worked out perfectly.  I called yesterday to make sure they had the results so we would be able to talk about them.


So here is what they found; the name of his particular disease is Mitochondrial DNA depletion with a Complex 2, 3, and 4 dificiency.  He said it's very rare but they are sure that is what he has.  (The Leigh's Syndrome is caused by the Mito) So they found the mutation in the mitochondria, now they are going to search for the gene.  (I think they are looking for the gene that causes the mutation.  I was able to keep up with almost everything scientific he said and I asked lots of questions but now that I'm typing it up I'm not completely sure how to word it, but I think that's right) Anyway, hopefully there is enough muscle left to test for the gene. (we will know within the week) If there is, then they should have those results in about a month.  Again they are saying a 50/50 chance they will be able to find the gene.   At this point the only thing that finding the gene will do for us is help us look at other children with the same gene to get a rough prognosis. (If there is not enough muscle left he said they can take a quick liver biopsy with just local anesthesia) 


As far as what "normal" looks like from here on out, we will meet with the specialist once a year and the neurologist at Scottish Rite twice a year.  They will keep an eye on his heart and liver through EKGs and blood work.  We are probably going to start getting him immunized as any of the diseases that are normally vaccinated for could be deadly for him.  


I asked him what life expectancy was like for Caleb.  Are we looking at 10 years or 30? He said, "more like 30 than 10." But honestly we really don't have any idea.  (although I'm going to take the 30 answer!!) From other people's accounts of what their children go through I think Caleb has a very mild form of Mito.  But mito is mito and at this point there is no cure for any form of mito.  The Dr. said they are making progress every year with working on diagnosing and curing mito.  So who knows, maybe in 10 years they will have a cure! Or maybe God will just miraculously heal Caleb before then, I'd take that too!


Overall it was a good visit today.  I got to ask all my questions and the Dr. spent almost an hour with us talking about it all.  For those praying- Caleb has been spitting up more than usual this week and we are not sure why.  We are searching for an answer, but it can just stop and we would be ok with that too. :)  Thank you all again for your love, support, and comments.


Love,
Jessica