Blood Work Results

Also on 10 September 2009, we received the final results from Logan's metabolic screens.  There are some abnormalities present but not enough information to lead Dr. Sweetman to any specific disorders.  I will post the results here but I can't tell you what it all means yet.  We're still piecing this one together.
The results that came back abmormal are:
Test                                                 Value (Ref Range)
Adipoylcarmitine, C6DC                       0.02   (< 0.02)
OH-Dodecanoylcarnitine, C12OH          0.02   (< 0.02)
OH-Tetradecenoylcarnitine, C14:1-OH  0.02   (< 0.02)
OH-Hexadecenoylcarnitine, C16:1-OH  0.02   (< 0.02)
Methylmalonylcarnitine, C4DC             0.04   (< 0.02)
OH-Butyrylcarnitine, C4OH                 0.11   (< 0.05)

Elevated 3-Hydroxybutyrylcarnitine (C4-OH) can be seen in short-chain 3-hydroxyaicyl-CoA dehydrogenase (SCHAD) deficiency and in ketosis.
Elevated C4DC may be found in vitamin B12 deficiency, cobalamin defects, and methylmalonic acidemias.  However, the level of C3 is with in the normal range.

Our next step is to have an upper GI with biopsies performed on his esophagus, stomach and duodenum.  We will be looking for any abnormities in these organs that might be contributing to his syndrome.  To perform this test, Logan has to have nothing but clear liquids for a full 24 hours prior to the test.  This is a huge challenge because he does not eat or drink most foods.  He likes butter (see picture to the right) but that's not a clear liquid.  He won't tolerate water or juices.  He must drink a certain amount and take down a drug that will prepare and clean his GI track.  If he does not cooperate, we will need to hospitalize him the day before, set IV's and perform a gastric lavage.  The upper GI is scheduled for 25 September 2009.

In October, we will have a neuro-genetisist consult.  They will evaluate where he is, order another round of very expensive and specific tests and write up a program we can begin to follow to assist his brain development.  We are hoping we can get in with this group in October as they only take on new cases once a month.