This is a chronicle our everyday life as we live, laugh and love raising our teenager, our toddler and our special needs baby. Normal isn't always what it seems...

Saturday, March 26, 2011

Back to our results

I'm sitting here with time on my hands so what betteer should I do than blog. It seems I always have so much I could write about but just don't always have the time. I don't really think that anything I write about is profound but I do hope that in some way some of things I write about can be inspiring to my friends or a help to somebody else that may be going thru some of the same things as we are with Lydon. So, last week we met with Dr. Koenig who is the mitochondrial disease doctor. As I said before, we were very anxious about this appointment because when we met with genetics, they had told us that included in Lydons chromosome deletion was a nuclear encoded gene for mitochondrial disease. Dr K explained that based on Lydons results, she does NOT think that Lydon has mito. Ill admit, I was confused and thrown off by hearing this. I even felt a little let down. Not because I wanted Lydon to have mito in any way but I do want Lydons medical issues recognized and treated rather than dismissed. Especially when the so much of the decision as to how or when to treat some of Lydons issues has seemed to hinge on a mito diagnosis. I explained this to Dr K and she explained to us that she felt sure that Lydons body was compensating for the missing mito gene but was struggling with the chromosome deletion. She said that his deletion does explain everything from his growth and language delay to his small kidneys, energy deficit, and GI issues. So, that made more sense to us and we were relieved to have the mito monkey off our backs. For now, we will take things as they come without the worry of a progressive degenerative disease! Dr. K asked my permission to send an email to Lys physicians explaining what we talked about and that Lydons issues needed to be addressed and treated accordingly since we can't very well make that part of his chromosome reappear. That gave me some peace of mind and reassrance. Although, I am thankful that we seemingly no longer have the worry of everything that goes along with mitochondrial disease we still have some of the same issues and now, some that are very different. There isnt a "Chromosome 16 Parents support group". There isn't a doctor that specializes in Chromosome 16. We dont have to worry about this deletion progressing but we dont know what this deletion will mean for Lydon long term. Despite all of this, I do feel quite confident in all of Lys doctors and I am very optomistic that we will be able to move forward now in doing what is best for him. He is such a sweet innocent little angel boy and shouldn't have to endure anymore pain or stress on his little body than necessary. I chose nursing as my career because I love medicine. The science of most of it just clicks and makes sense to me. I chose pediatrics because I love children and babies. I feel like they are straight from Heaven and still posess a pure and innocent spirit without the corruptness that most of us carry by the time we hit puberty. Now, more than ever my goal is to take care of Lydon and his specific issues based on just that. I want for him to enjoy his childhood with as little pain, fear etc as possible. He has already taught me so much about life. How can I complain about something that is really big to me (like my thighs or my rear end or sleeping in a window seat in the hospital night after night) but yet be SO insignificant when he struggles just to communicate with us and is seemingly punished by his GI system for eating an extra cookie or drinking a little more apple juice than he usually does? He deserves so much more and I am so blessed to be his Mommy. My prayer is that I can somehow continue to help Lydon live life to the fullest through all of these complications without hindering him or holding him back in any way and maybe just possibly learn something that will help and encourage others and bring joy and a purpose to this unknown path that we are enduring.


  1. Wow, Jana. This is some interesting reading. I was trying to figure out all these things you've been describing to us. This clarified some, not all, to me.

  2. Baby, i've cried too much this week and this just topped it off. You left out one of the best things Ly has going for You make his life as good as it is. I thank you for caring for my son the way that you do.

    On a side note, you've turned out to be a pretty good blogger. Love you.