Monday, August 27, 2012


     Well, it has been awhile and not much has happened, medically speaking, with Freya.  But those days are coming to a close.  In a few days we travel south to San Fran to finally get her BiPap mask so that we can, finally, start her on the growth hormone.  I'll write more about that once we get situated.
     These last few months have been great.  Freya has grown and is developing a sweet, fun personality.  She smiles and laughs often and is very pleasant to be around.  I love watching her facial expressions as she visually explores the world around her.  She is sitting up (though needs someone nearby because when she goes, she goes) and shows a lot of interest in her toys.  All of these things bring us great joy.  And on top of all of this we've had great news from the doctors.
     A few months ago we met with our SF Geneticist who has been specializing in PWS for the last 30 years.  After spending some time with Freya she told us that Freya was in the 'above average' end of the spectrum.  Of course this was great news for us.  But the best news came from a specialist in Florida.
     While visiting family we took Freya to a Pediatric Endocrinologist who specializes in PWS.  She has people coming from around the world to see her.  When I suggested us seeing her to our Geneticist, she emphatically approved.  So we took Freya to see this doctor and got the best news we've gotten since this whole thing began.  To begin with, she was very impressed with Freya and her muscle tone, saying that she seemed like a baby already on growth hormone.  Then she spent the rest of the hour telling us of all the hopeful things they are learning about this disorder.  As she put it, 'If you're going to have a baby with PWS, now is the time'.   There are medicines in use that are proving to be effective in controlling the hyperphagia (the excessive eating) and 20 more in research.  She said she could not only offer us hope, but lots of hope, that Freya will have a normal life.  We couldn't ask for more!