Tuesday, November 25, 2008

Visit with the mito specialist

Sadly, the visit with the mitochondrial disease specialist resulted in no new information. So far we have tested for the most common defects in the mitochondria — and they all came back negative, no problems found. This means that we have a rare case of an already rare disease.

We were able to ask our questions, but the answers tended to be that we just don't know what will happen, so we just need to continue with what I call The Big Three:
  • rest
  • nutrition (in particular, the "usual" supplements that are recommended for mito patients)
  • preventing infection (and treating any suspected infections quickly)
The doctor recommended another set of tests that would be more invasive than the ones Timmy's had so far. If we decided to go ahead with those, they could all be done at once, which would be good. Mostly it depends on how determined we are to know precisely which part of Timmy's cells is broken. The tests will most likely not help Timmy at all, but they may give us a better idea of how likely it would be that future children would have the same problem. It's a tough decision.

4 comments:

Ingrid said...

I'll be praying for the decision-making process and for your peace and rest! :)

Anonymous said...

Dear Lara,

I'm sure that getting no answers is not how you wanted the appointment to go. It is a dilemma about the further testing; knowing more won't at all change anything for Timmy, but, knowing more may give you information for your future planning. It is a tough decision. We'll be praying for clear direction.

Let me know sometime what you decided about your insurance.

God Bless,

Julie R.

mom/nana said...

Also praying for discernment. Knowing the two of you, you've already discussed any pros and cons anyone could think of. From the nana's perspective, it may give you peace of mind, in one form or another,if you were to know for sure that this is just a rarity, or if it would be likely to happen in subsequent children. Timmy, you are one-of-a-kind to the n'th degree! :-)

Oma said...

On this glorious Thanksgiving Day:
Sing to the Lord with thanksgiving: make music to our God upon the harp.

To all of you out there loving this little Elfstrand family:

Blessings to you on this Thanksgiving Day!!

Oma