Friday, February 7, 2014

Murphy abides*

His law was absolutely spot on.

We have been bumped from the genetic testing study that we were so thrilled to be in. After giving blood last week, we forwarded, as requested, C.'s detailed medical reports to the neurologist conducting the major genetic study.

Little did we suspect that that very material would convince the doctor that C. is an inappropriate subject.

Yesterday we received the following email:
We reviewed C.'s results including all the workup that she went through after we met in the past. There is no evidence for MLPA (looking for small deletions which are not detected on sequencing) of both MECP2 and CDKL5. My impression is that her clinical picture is more consistent with CDKL5 than anything else and I think it is unfair to perform all the 140 genes without MLPAs and get nowhere... The cost of the CDKL5 gene MLPA is $X (not covered by the health fund). So my suggestion is that you will consider paying for this test first... and only if negative we will send it for the research...
In all probability, we will proceed with the test. A positive result will end our search for that elusive diagnosis. A negative one will be C.'s ticket to the research study.

But the jackpot-win aura has certainly evaporated.

*For those poor souls who are unfamiliar with the film The Big Lebowski, here is some background.

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