Can you stand it?


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Thank You Henry.

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If I only had two words to describe what it was like to grow up in Port Washington, I would say: Henry Stanziale.  Man, did I adore Henry. Everyone did. Henry brought live music and so much fun into my life from an early age.  He was—hands down—the coolest kid in high school: star lax player, the best musician, the most fun, SO CUTE, and so nice to everyone. He was truly a creative genius, and I got to be one of his companions on this ride.  Henry was the guy who got everyone together and created the games for us all to play. As Rich just said to me, “Henry created the games, and you were his muse,” because I was right there creating the games with him.  Anyone remember our Wheel of Fortune using his backyard table umbrella as the wheel?  “The Club” or "Club Stanz" was the name of the Stanziale basement, where we basically lived. Every Wednesday, I’d rush there for  90210/Melrose . Thursday was “Must See TV” at the Club. At Christmastime, Henry loved showin...
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And now we have a diagnosis.

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[This is the blog post written in 2014 when we got Josie's diagnosis and years before I knew I'd be co-founding the FOXG1 Research Foundation to find a cure] On April 8th I got the call we have been waiting for since November. Katie, from Dr. Iglesias' office (the Geneticist at Columbia), asked "Is now a good time?" I said "yes." I think I held my breath in those few seconds between my apprehensive "yes" and her telling me the "gene mutation we found in Joise is..." She explained that Josie has something called Congenital Rett Syndrome. No, that can't be it, Josie was tested for Rett Syndrome a year ago. But this is Congenital variant of Rett Syndrome and is caused by a different gene than the MECP2 gene that is responsible for about 90% of all Rett Syndrome cases. Josie has a mutation on her FOXg1 gene. There is a significant difference. Most Rett Syndrome children develop quite well until about 18 months, but the word Co...
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Peaceful Easy Feeling

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I'm afraid to write this, but I'm going to put superstition aside and share the good news that Josie has not had a seizure since December 30th, 2015. Yup! This is her longest seizure-free stretch since they started in April of 2014. It could be due to the CBD oil. She's still on a pretty heavy arsenal of meds on top of the CBD oil, but I do believe it's the CBD oil that's helping the most. Ain't that kind of funny, Mom? Soon, we may try dosing down on some of the other meds to see if we can reduce them. That would be fantastic. It gives me such a "peaceful easy feeling" to think of Josie being seizure-free. Her brain is calm and she can move forward cognitively without being set back over and over again. Of course, that post title is a tribute to Glen Frey. May you rest in peace. And may the great David Bowie and Maurice White also rest in peace. Sigh. No more for a while, please! Some recent photos for your cuteness pleasure... Oh those pigt...
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