One in a Melon - Williams Syndrome

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!).

I haven't yet shared how we ended up with this crazy diagnosis. Let's just say I went in for one thing & came out with another...something way worse than I ever anticipated. Notice Ava's head in this picture? It's crooked. In fact I noticed her crooked head when she was about 2.5 months old & went to the pediatrician. He said it was likely Torticollis. "Switch the way I held her, sit on the opposite side of the sofa, & do these stretches at home every diaper change, & if it was still a concern at her 6 month check-up, then we would address it then " he said. Really??? That's it I thought? So...I kinda did what he said, but nothing really changed. After a couple weeks I found a Chiropractor. Ava went to her for 8 weeks, 2 times a week but still no real changes. I didn't notice it then, but now that I keep a journal on her neck issues, it seemed to correct & then regress itself every 10-15 days...meaning - it's crooked for that period of time, then straight for that period of time...& so on and so forth. Talk about frustrating. Every time she'd go "straight", I'd think we were over it. But nope. We're still dealing with it. I took her to a new pediatrician, the best in our valley, enrolled her in our AZ Early Intervention Program for Physical Therapy, but still no progress.After a Ophthalmologist told us her eyes were good, the Cardiologist told us her heart murmur had improved, & the Neurosurgeon said her MRI & X-Rays were fine, the only other testing to do was Genetics. During this whole ordeal her Physical Therapist (for Torticollis originally) found a rare version of Torticollis called BPTI: Benign Paroxysmal Torticollis of Infancy. It sounded JUST like Ava!!! Basically, these kids had bouts of Torticollis that would come & go; the typically came from families that had a history of Migraines. This was it!!! This was what Ava had! I was so excited she had this "rare" version that I 100% believed it AND told every doctor we'd see all about our hypothesis & how we were just going through the testing to rule other (unheard & unlikely) things out. The great thing about BPTI was that Ava would grow out of it. Some articles said 18 months, some articles said they may go up to 5 years of age with this crooked neck thing. I could deal with that, because I knew if they found anything other than, especially if it was the Genetics Doctor, that it'd be MUCH worse.

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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