Today I get a call from RJ's endocrinologist. Humana (our new insurance carrier) has denied coverage of his (very expensive) medically necessary growth hormone. Their rationale is actually a valid one. They had no medical proof that he has indeed been diagnosed with Prader-Willi Syndrome. HGH is a very regulated drug and they are understandably taking all precautions to make sure that it doesn't fall in to the wrong hands. Well did they call the right person! After a few minutes of digging, I faxed over RJ's full chromosomal workup from not one, but two geneticists from two different hospitals. Is anyone really surprised I would have my child's full genetic makeup on file...really?
To note the title of this post: RJ is missing the 11.2-12 portion of his paternal 15th chromosome. Hence the PWS diagnosis.
To note the title of this post: RJ is missing the 11.2-12 portion of his paternal 15th chromosome. Hence the PWS diagnosis.
2 comments:
I have to laugh as they just don't realize who they are dealing with. Of course this is also the girl that has every T-shirt she saved during her years of playing basketball in high school:)
I'm impressed regardless. Aren't you a great mom!
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