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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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Honk For a Cure : The Power of "Yes"

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 << My article in the special Capitol Theater edition of the El Goose Times >> During the thick of the pandemic in January of 2021, my then 13 year-old son Tanner had a Zoom guitar lesson with Rick Mitarotonda! I couldn’t believe this was really an option when I bought it for him during the holidays. They played for an hour and after the lesson Rick and I talked for a while. We talked about the pandemic, about the music biz, and Tanner’s guitar knowledge (I’m bragging). I told him about Tanner’s sister, Josie, and how she was born with this awful rare disease called FOXG1 syndrome and that I started a research foundation to find a cure for it.  With the coolest sincerity, Rick said, “Whatever I can do to help, please let me know.”  My eyes lit up. “Really?”  “Yes, ” he said. And he meant it.  When Rick put me in touch with his manager Ben, I knew I better hurry up and follow through because these guys were about to take off! You know how they say, you know a truly good pers
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There's Always Been a Rainbow..

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"When it rains, it pours, but you didn't even notice... it ain't rainin' anymore. It's hard to breathe when all you know is the struggle of stayin' above the risin' water line." I'm going to write updates here, in Josie's OG blog. It will be so much easier for me to keep our incredible Team Josie updated, and I'm always happy to return here to Josie's Journey. A trip to the ER turned into the PICU - Night One We drove Josie to the NYU Emergency Room on Friday. She was sleeping for just way too long. She does this from time to time and it's always a guessing game as to why. Could it be her seizure medication? Is she on too much? We just raised one, it must be that! Is it COVID? Is she just choosing to sleep all day like her Grandma Helen? Is she just over this cold dark winter? I am. Is she having seizures in her sleep that we are missing and she's postictal (the fancy word for being knocked out by the seizure monster). We shoo
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