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  • Writer's pictureNicole

A Year in the Life of FOXG1 Syndrome - Seizures, G-tube, and Science - oh my

"When you're lost, you can look and you will find me... time after time."

It's been a long time since I've written here. Over a year. I haven't abandoned Josie's Journey blog. Maybe I've just been too busy living Josie's journey that I haven't stopped to write about it. Or maybe every time I sat down to, I just didn't know where to start.


To use the cliche that we were forbidden to use when I worked at CNN: what a difference a year makes! Cliche or not, it's so damn true. Or is it?


If you think I'm going to say Josie is now walking and talking and completing the Sunday New York Times crossword, well.. a year didn't make that much difference, but here's a brief recap of what we've missed in this lil 'ol blog:


  • Josie is in her second year of school! First grade, baby! She loves it.

  • Josie got a g-tube (feeding tube) in June. I was holding off with this for as long as I could, but it has been the greatest thing and the smartest decision. I should write a separate post about this. There's just too much to share in a bullet point.

  • Phish played a historic 13-night run at MSG this past summer ( oops, wrong blog)

  • We started a research foundation to start the roadmap to a cure for FOXG1 syndrome!

  • It's been a relatively good year on the seizure front. In March, however, Josie had a setback. It wasn't pretty. But I learned a very good lesson.


Josie had been seizure-free for about a year, but at the same time, she was growing.


So, she outgrew her medication doses and they needed to be adjusted. As I'm writing this I'm realizing it's time I check her doses again. Hold please while I call her doctor.


I'm back. Thanks for waiting. Looks like I'm veering off the bullet points for this one.


I had gotten used to the seizure-free lifestyle.


It was a world of difference from the years before when Josie was having several a week. And those grand mal ones - ooof. But, with every week, then month that passed without a seizure, we learned to relax more. I felt more comfortable trusting our night nurses. I've been going out and enjoying my passion for live music without watching Josie's Dropcam video on my phone. Yup, I used to do that. I'd be at a concert watching Josie in her bed from my phone and I'd be saying things out loud like, "move her blanket away from her face!"


We had finally gotten her medicinal cocktail right. The perfect blend of valproic acid, benzodiazepine, and fycompa, along with the secret sauce, CBD oil - and the electrical activity in Josie's brain was as smooth as a Tennessee whiskey.


But, medicinal doses depend on weight and as Josie was growing and thriving, her doses didn't keep up.


It started on a Thursday when I walked out of her room for one minute and came back to find her in her bed stiff and blue.


Shit, where the hell is the oxygen?! Thankfully it was still set up in her closet.


I grabbed her. Held her sideways in my arms while my shaking hands got two sprays of the medazelum rescue drug up each nostril. Within a minute she was out of the seizure. Within that same minute I digressed to 2014 when I was living outside of my body in fear.


I just held her for a while and I let myself cry. The fast pace of the world around me just stops. My strength totally gives in. I just want to sit and hold her.


The questions start running through my mind. Why does the wiring of the brain have to be such a tricky thing? She was doing so well. Why can't she tell me what this feels like or when it's about to happen? Why does my baby girl have to suffer from this? Oh right, she has FOXG1 Syndrome.


Anyway, this happened again the next day. And again the next day. Luckily Rich was home over the weekend to jump into action with me.


I was on and off the phone with the neurologists on-call each day and finally when it happened again, it was time to visit NYU again. Mommy and Josie's city adventure - again.


Bright lights. Big city. Buzzers. Beepers. Sleepless nights. Pull-out chair. Questions. Answers. Medical teams. The joy of the morning coffee cart. Any parent who has spent nights in the hospital with thier child knows.


I do have to say, there is an upside. Sometimes, very sadly, you understand the meaning of that saying, if you had to put everyone's problems in a hat and pull one out, you'd still choose to pull out your own.


It's hard to see other sick kids. At 7 a.m. when I walk to the coffee cart in my pajamas and zombie eyes, there's this nod reciprocated with the other parents like, yup, I feel you. And then I'm thinking, "please don't take the last cup on coffee!"


Another upside in times like these is that I realize how lucky I am to have a few great friends who really listen. Even when I am tired of hearing myself speak, they're listening. Being heard is never overrated.


Anyway, fast forward to today, December 1, 2017 and Josie is still doing great. She had one minor set back after her g-tube surgery in June just because the meds were being metabolized differently through her belly rather than her mouth, but that was a quick blip and all is good in the hood.


Where are my bullet points?


Well, the biggest event that has transpired over the past year is certainly not a bullet point; it definitely warrants a post of its own - if not many.


I've recently joined two other FOXG1 moms and a Geneticist from Stanford and created a new foundation to get the ball rolling on research. And by rolling, I mean plowing.


We launched the FOXG1 Research group under the BLACKSWAN foundation over Labor Day weekend and we have already funded three research projects!


I'm finally so inspired and energized. I know now that - get this - this little gene that has robbed my little girl of the simple abilities every child deserves to have, might be the very gene that could lead to a cure for so much more than just FOXG1, but for many brain disorders affecting millions of people.


Yup, we've learned that FOXG1 is one of the first and most critical genes in early brain development and scientists believe that a cure for FOXG1 could mean a cure for many related brain disorders like Autism, Alzheimers, Schizophrenia, Brain tumors, and more.


No joke! We are on to something big here. Josie might be writing history, people.


Stay tuned for more on this. I promise it'll be worth the read - there's drama, there's excitement, there's love, there's serendipity, there's science, there's laughter, and mark my words - the story won't end until there's a cure.


If you think my music reference in the title is only a nod to Cyndi Lauper's "Time After Time," well, there's more to it. I was listening to the version by Iron and Wine at the moment when I finally felt inspired to revisit this blog. Something about hearing a modern version of an '80s tune gets me every time. I love it. You should see my "Covers" playlist on Spotify.


If you fall I will catch you. I will be waiting. Time after time.

Some beauty shots during our girls week in the big city. Despite the days of consecutive seizures, this little muffin still shines that smile.




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