December 22, 2016 3 min read
"Ava is One in a Melon" - I think my subconscious mind was (& is) ten steps ahead of me. This was Ava's 1st Birthday Party back in September - before her surprise diagnosis in December. Her Watermelon themed party had a cute quote "One in a Melon." More like 1/20,000-30,000 US (which is sorta like 1/1,000,000!).
And so...we went by ourselves to see the Genetics team - and a simple little "swab test" led to the Doctor throwing out this crazy shit about Williams Syndrome...and have I ever heard of it? She wasn't "sure" but Ava had a couple characteristics: starry blue eyes & soft skin (baby skin if you ask me). I was a mess after that visit. And I somehow refrained from looking it up online. I was just so angry that she'd guess such a thing when I was there for a black & white Test - no wishy washy guesses! But she was freaking right. Even when the PT & Pediatrician also gave me perplexed looks as if they didn't see what the Genetics Doctor was guessing...but...she was right. And that damn crooked neck has nothing (that she knows of), to do with it! Went in for one thing, came out with another!
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