Josie's Journey

There's a song I hear often on my favorite indie station, SiriusXMU, called 'Somebody Who.' It's by Au Revoir Simone and it goes.. I need somebody who can stay awake, somebody who..can stay awake." I don't know what Au Revoir Simone means by it, but I know that I definitely need somebody who can stay awake - all night! The good news is that we're close to getting that person. I started the process for home nurse care through the state before the summer. It's been months of operating on very little sleep. I've mentioned before that Josie can and has had seizures in the middle of the night - anytime really - and someone has to be watching her at all times. I got a call yesterday letting me know we've been approved for nurse care and there are just a few more steps to go! So, I'm thinking in two or three weeks we will (fingers crossed) have a night nurse and we will be able to sleep again! Last week Josie had three grand mal seizures...

There is something I want to follow up on from the post I wrote on April 14 titled And now we have a diagnosis . I talked about our experience in the geneticist's office when he explained to us that Josie has foxg1. There was something he said to us that made the walls of his office close in and left us questioning how we could get through our days. After he told us the pretty dismal prognosis for a life with foxg1, I asked the elephant-in-the-room question: what is the lifespan? He said "teens" with a shrug, as if that's hopeful. That was when we asked him to give us some time alone. I won't get into the emotions and thoughts that overwhelmed us at that time and made the next few weeks very hard to bear. But, a few weeks later I spoke on the phone with Dr. Paciorkowski who is one of the three doctors doing research on fox1. He is Senior Instructor of Neurology, Pediatrics, and Biomedical Genetics at the University of Rochester Medical Center and he has ...

How Nicole Zeitzer Johnson, Communications Director and Special Needs Parent, Does It By NICOLE ZEITZER JOHNSON, AS TOLD TO KJ DELL'ANTONIA AUGUST 27, 2014 3:20 PM September 3, 2014 10:37 am Nicole Zeitzer Johnson is the director of communications at Qello, a digital streaming service for full-length concerts and music documentaries, and the mother of two children, Tanner, 7, and Josie, 2. Josie has a rare genetic neurological condition called FoxG1, which is associated with impaired development. In the “How I Do It” series, Motherlode asks parents, from members of Congress to retail clerks, to share “how they do it” on one typical day. We’re spending the summer in Montauk. My son goes to camp out here. I was hesitant to do it this year because our neurology team is by our home in Port Washington, and the nearest hospital isn’t close, but our doctors all said do it. Live your life. So we’re here. This morning we got up at 7:30. Someone sleeps in the bed with Josie every n...

Josie turned a corner this week in her walker. She would always just push herself a few steps backwards, but now she is taking steps forward! Her foot positioning might not be there yet, but it doesn't matter right now. Isn't that what 'baby steps' means? She is wearing her new AFOs (ankle foot orthodics). They were molded to fit her perfectly and then painted with hearts :) She's so fancy. It's still hard for her to keep her head up while using her leg muscles, but again, she'll get there. Go Josie Go! * Step is a song by Vampire Weekend (I've actually mentioned it before).

I am incredibly moved by the outpour of love and support that is coming our way since I went public about Josie's diagnosis. Three weeks ago I was interviewed by a writer at the New York Times for a column called "The Motherload: How She Does It." She had learned about my life as a working mom with a child with a very rare disorder. Ahead of this call, I realized I should use this opportunity to finally start the online fundraiser I've wanted to start. It was the right time - hey, maybe they will add the link to the story. So I signed up for Crowdrise, which by the way is a fantastic company, and I wrote Josie's story. At the same time I came out of the closet about Josie on Facebook. Up until this time, I hadn't mentioned anything about Josie for all to read. I wasn't ready. I knew that something would come up that would make me ready. With the fundraiser set up, I made the first donation and posted it to Facebook. The emails came pouring in - donati...

One that won't keep me up all night or make me sleep all day. Did Huey Lewis write this song for Josie in the '80s? Well, since my last post, the anti-seizure medicine trial-and-error continues. Josie went two weeks without a seizure recently, but last week she had two big ones. We went to the ER because she was not just sleeping once she came out of it, she was passed out. I had them check her Valproic Acid levels and learned they were max'd. That means we can't raise her Depokote dosage any more. So the next day I took Josie back up-island to where we live during the year and saw Dr. Maytal to go over our new plan - her new drug. Together we decided to ween off the Topomax, which he doesn't think is doing anything for her, and we're adding Keppra. Maybe this will be the trick. I'm hopeful! Sleeping is very difficult for us. Someone needs to be watching Josie at all times, including all night as she has had many seizures in her sleep. So we're take ...

The past month has been all about trial and error - or maybe I should say trial by fire. Since my last post, Josie has had a handful of seizures, large and small. Each new seizure leads to an increase in her medicine. I'm writing this on June 10th at 8 a.m. just two hours after I jumped out of bed when I heard her "seizure scream." Parents with kids who have seizures know that scream - unmistakably. It's not a screech, it's deep and kind of animalistic. And it typically happens once the seizure has already started. We are starting to feel more comfortable handling Josie's seizures on our own without calling 911. We have an oxygen tank that we bring everywhere we go with her. And we have two types of emergency meds. The heavy artillery is the diazepam syringe that we administer in her butt if it's a really bad seizure, and the lighter, but so far effective solution, is a dissolvable Klonopin. There are times when we need both. I won't go through...