Saturday, October 9, 2010

Diagnosis confirmed

This will be a tough post to write.  Though for me emotionally. And, tough because  frankly I still don't feel qualified to try to explain any/all of this.

Our doctors called us this week to let us know that the mitochondrial DNA blood test came back showing a mutation in one of Sam's mitochondrialDNA (mtDNA) --it is a complex I gene that has been shown linked in previous cases as causing Leigh's Disease.  Everyone inherits their mtDNA from their mother only. Therefore, "this" gene came from me and me alone.  I will be tested next to see if I also have the mutation. As I am asymptomatic, if I do have the gene mutation, it is probably a smaller percentage than Samantha.  Sometimes mutations are "new" so I may not have the mutation at all.  In Samantha's genes, we know that there are some good and some bad copies of this gene--we just aren't sure of the percentage yet.  Hopefully, we will find that out soon.  However, even if we find out the percentage, it still won't give us a clear prognosis as again (sorry for repeating myself) these things can vary dramatically even when the same gene is implicated/similar percentages.

So, what does knowing this mean, or change for us right now?

The positive aspect of knowing the mutation (probably not the best word to use, but I hope you know what I mean) is that now we can stop looking. We know "what" it is.  With these types of things it is really good to know the exact gene causing it in case they may have a specific treatment for it one day. Plus, knowing the mutation allows us to skip the muscle biopsy--it is no longer necessary. This is mitochondrial disease.  Some parents have been on this journey way longer than we have and still do not have as definite an answer as we have right now.

The negative of knowing this is that right now, mitochondrial disease is not curable, and it is usually progressive.  Leigh's Disease (a neurodegenerative form) in general, is one of the more/most severe types.  To be honest, I'm not really comfortable even calling it "Leigh's" at this point in time.  Perhaps I am in denial, but right now I am preferring to call it mitochondrial disease--Complex I.

Samantha continues to do well, all things considered. Still laughing, and smiling. She is still making progress in her speech and motor skills--albeit very slowly.  We've recently started her on the beginnings of her vitamin cocktail.  I've decided to add one at a time to ensure we catch any negative or positive reactions.

Going forward we must continue to keep Samantha hydrated, well rested and avoid sickness at all costs. Many children with mitochondrial disease have had serious implications from a simple virus.

For friends and family reading this, please, please make us aware of any sicknesses you may have before visiting with us.  Not that we want folks to cancel their plans--but it would helps us to know ahead of time so that we can decide if Samantha should stay at home to avoid picking up a sickness.

As it stands, she is just getting over another cold--so we know it is impossible to avoid getting sick.  However, we want to do what we can as parents (this disease doesn't give us many opportunities to "help"--so if we can keep her healthy--it makes us feel like we are doing "something").

Val and I continue to try as much as we can to focus on today and enjoy every minute that we have with each other and with Samantha.  Of course we all know that we should do this everyday, but situations like ours really, really bring the point home.  No one is promised a tomorrow, so enjoy today as much as you possibly can.


  1. (((Monica))) A painful post to write, it all seems so much more real when you see it in words. Denial is my best friend, always there for me each morning so Im able to get up and face the day. Truly without it I dont know what I would do with myself. Thank god I have Moms like you to pull me through those dark days. Know Im praying for your family tonight, big HUGS to your sweet Sam--
    Heidi & Jack.

  2. I am so sorry that you received some scary news. It is hard to not have answers and it is hard to have them too. Hoping that they can give you some more clarity as time goes by. Always remember she is still the same lovely child as she was before you received that news.