Sunday, February 13, 2011

Result wait

So we have officially gotten the results back from Cleveland and they are "inconclusive". There are some markers for mito or possibly another genetic or metabolic disease/disorder but they do not know which one of course. We have no idea what happens next until we talk to dr. P on the 17th of this month. "undiagnosed land" is so confusing, tiring and right down frustrating lately.
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Tuesday, February 1, 2011

Awaiting Results

So it has been nearly 8 weeks since Boo's muscle biopsy and we've only gotten some of the results back. On the way back home from AR we swung through Ann Arbor for an appointment there with Boo's Neuro. He'd gotten the incomplete biopsy results but didn't know what to make of them as nothing was clearly something. Small elevations here minor deficiences there. Aclycarnitines were probably the most interesting in that his Calculated Aclycarnitines were 44.8 instead of between 300.85 - 1078.55 but again, nothing diagnostic. So we wait for the rest of the results in hope that they will shed some light on the rest of these and give us some answers. All the while we were gone I didn't give the results a second thought. I knew I probably wouldn't have answers until the middle of February anyway. However, having some of them back and revealing nothing I'll fully admit to being discouraged. What if we put Boo through all this for nothing? What happens next? Do we keep searching? aka poking and prodding, xraying and the list goes on? How much do you "hurt" your child in order to help them? Hubs keeps telling me not to worry about it until we see Dr. P and HE tells us what the results do or do not say since the doctors that have weighed in so far don't know mito as well as he does. So we wait again. We have to wait 16 more days until we return to Cleveland for a bronchoscopy, GI follow up, sleep study and of course see Dr. P. The one thing Neuro in Ann Arbor did find out is that it IS possible that Boo has an Oxygen Affinity Disorder given his "without cause" O2 needs. He consulted with a hematologist there and recommended we have some tests done buy Boo's Hemo here to test for it. He thinks it would be secondary to whatever is primary or possibly in conjuction with his Elliptocytosis. Great, one more tree to bark up!

On a positive note today is my 28th Birthday and while I feel more like 48 and just plain hate being this close to 30 I did have a good day. My hubby called my Dad to get the recipe for my favorite childhood "panacakes" (Dutch pancake) and made me breakfast in bed complete with coffee, my dear daughters each made me a homemade card that I love, Boo gave me smiles when he squealed with delight at being allowed outside in the snow for a few minutes and God made me just sick enough with cold and flu symtoms that I had to lay around in bed and drink tea all day but just well enough that I wasn't completely miserable and could read, sleep and type at will. Of course the flip side was that the kids were barely let near me, Hubby took a forced day off work to play with the kids and I sat here praying that Boo doesn't catch what I have because if he did it would mean a lovely birthday overnight getaway to the ER. Speaking of a getaway, provided we have clear sailing, a friend of mine and I are going to go on an overnight next week to a beautiful house owned my some people from our church. It will just be one night but there will be no pumps, beeps, meds, laundry, dishes, alarms or any kids for either of us and we're both looking forward to it. As SN Mom's we need to feel OK doing stuff like this on occasion! For tonight though I'm going to snuggle up from a distance with Hubs and watch a movie.