Josie's Journey

 << 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, yo...

  Josie was born the day before Thanksgiving 11 years ago and truly defined the meaning of giving thanks. Allow me to rattle the reasons why I am thankful. I am thankful for her pure joy. Her resilience. Her love. Her strength. Her energy. Her silliness.  I am so thankful that she gave me a purpose that I would have never known.  I am thankful that she gives me the courage to live my purpose, not only for her but for every child and adult in the world with FOXG1 syndrome , and more.  As a parent-led organization, we are actually improving the landscape for rare disease drug development. Why? Because we have no time to waste. We are helping contribute massively to science for major neurological diseases like autism, Alzheimer's, brain cancers, and more. No joke. Our work has the potential to solve major disorders that affect millions of people and knowing that fills me with even more motivation and inspiration - and gratitude.  I was able to dive in because of ...

Day 11 in the PICU. It feels like I'm living in a Netflix series called The PICU. The past few days - or episodes- have been quite a roller coaster ride. We're up and then we're down again. It's all just leading to the dramatic comeback, right? We'd lose viewers if we didn't add more excitement on the way to recovery. So Josie is keeping us glued to our screens. Let's recap... Sepsis and Pneumonia stole the opening act. That ER scene was Scorsese worthy, Josie. The fear in the doctors eyes. Mom's knees go weak. Enter the Infectious Disease team. So swiftly they investigate, identify, and tackle the evil bacteria. While Sepsis was slowly getting killed off the show, Pneumonia introduced a new antagonist named Major F*kn Breathing Problems (Maj. FBP). **cue title music ** Maj. FBP sure did shine a light on the awful condition of Josie's lungs. Low capacity plus aspiration, they were a breeding ground for infection. I wonder how long this has been goin...

Day 7 in the PICU.  Move over sepsis and pneumonia, seizures are stealing the spotlight today. Today started out with a scare. Josie desatted - her oxygen level dropped significantly. I had just woken up. I actually slept from 12am - 7am - the most I’ve slept all week. Her eyes were open and I said my usual “goooood moooooooornnnning.” She smiled. I kissed her. More beeps.  There are always beeping sounds, but this was louder. Her oxygen level was 60. F*ck. It should be 100. I watch that level like a hawk. Under 90 and I drop to a running position like a sprinter ready for the gun to go off. The nurse came in. I pressed the seizure button, and seconds later she was back to 95. Was she just mouth breathing and the BiPAP couldn't sense an O2 drop? Was it a seizure? We completely took her off Depakote on Day 5. It's the medicine that wreaked havoc on her platelets and white blood cells, and that I blame for my new gray hairs. Well, let’s not give depakote all the credit, epidiol...

"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...

Josie (sort of) Goes Back to School. The beginning of September and our social media feeds are covered with those adorable back to school photos. I do it too - every year. I stick to my non-crafty-mom schtick - a simple piece of note pad paper with a sharpie drawn - First Grade! Second Grade!  You get it. I got Tanner to hold it up this year despite his 14-year-old, stop-taking-pictures-of-me attitude.  He did it with a fake smile and his breakfast in hand and oh how that warmed my heart. For Josie, this year gave me incredible pause.  Well, first of all, she's not even going back to actual school yet. Since the pandemic started in March 2020, she has been home.  The school nurse she had for many years found another job and now isn't available.  Josie requires a nurse to come to our house, ride the bus with her, and stay with her all day until they return back to our home around 4pm. The agency found a nurse for Josie to return to school for a few weeks this sum...

What would inspire me to come back to this blog after nearly four years since my last post? A Facebook comment of course. A friend from elementary school commented on a Facebook photo of me and Josie, "I miss your blog." Those four words really hit me. I needed them. I loved keeping this blog. I wish I hadn't stopped because this journey sure could use some real-time journaling! So, I'm back. Anyway, remember when I was just searching for Josie's diagnosis? Remember when there were only 93 people known in the world with FOXG1 syndrome? Remember when the geneticist didn't really know what FOXG1 was? Well, fast forward to today and it's a different story. There are now about 900 people known with FOXG1 syndrome.  Introducing the FOXG1 Research Foundation. I did mention in my last post in 2017 that I launched the FOXG1 Research Foundation     along with the yin to my yang, Nasha Fitter and a team of amazing FOXG1 parents. Four years later and we are the gl...