Josie's Journey

We can put the question of whether or not these are seizures behind us. There is no doubt that they are. Last week was loaded with doctor visits. By the fifth appointment I felt a lot more confident in our direction than I did in my last post. First we saw an ENT, Dr. Max April (NYU), to discuss Josie's sleep study results. The sleep study showed mild obstructive apnea. Dr. April put a mini camera on a wire down Josie's nose and showed us her adenoids, which were a little large. There was nothing else of concern. He said he would only remove them if we were doing something else that required her to be put under anesthesia. That was we can take advantage of her already being under. Well, we have wanted to do a scope of her throat to see if she has something called EOE or Eosinophilic Esophagitis. The subject of EOE came up when she stopped eating food in July. She continues to drink her bottles, but stopped eating. The thought at the time was let's see if she has EOE ...

I was so full of hope in my last post. I thought we'd spend a few nights at NYU, capture a seizure on an EEG, and get Josie in the trial for epidiolex . Well, that wasn't quite the turnout. Actually, we are more confused now than we were before going to NYU for the week. So, Josie was admitted on a Tuesday. It was the only time I actually hoped for her to have a seizure. We needed it to be captured and it had been a few days since her last one, so chances were good that she would have one. Well, she sure did put on a perfect performance on Wednesday night. I noticed that her usual restless activity changed by the sound of her breathing. Rich and I recently realized that it's the sound of her breathing that lets us know it's starting to happen. She started to stiffen and went on to have a 12 minute seizure. A few minutes in, we gave her the Medazalin spray. It's the new rescue med that Dr. Davinsky prescribed. She continued to stiffen on and off, and after a...

Josie and I will be driving into the city today to stay at NYU hospital for a few nights. I'm actually pretty excited about this stay. And not just because I get to order city take-out food again. This past Tuesday we went to see Dr. Orrin Devinsky, Director of the NYU Comprehensive Epilepsy Center. Dr. D is the Neurologist running the trial for Epidiolex , the pharmaceutical anti-seizure marijuana drug. Medical marijuana, medically known as cannibidiol (CBD), for seizures became all the rage this past year with a strain called "Charlottes Web." Families are moving to Colorado, where it is currently legal, to treat their children. Despite all the hype, thanks to CNN's Sanjay Gupta and other primetime specials on Charlottes Web, it's not necessarily the miracle cure for all. I just came across the latest insights. A friend recently put me in touch with a father of a child who is part of the NYU trial for the new drug and this dad highly recommended that we see...

Yesterday was the perfect beautiful brisk Autumn Sunday. Rich took Tanner to flag football and I was planning to take Josie to a lunch party for my friend's nephew who has Autism. It had been a week since Josie's last seizure, so naturally I was on high alert. But, I was hoping that since adding Onfi to her medicinal cocktail, the seizures would be done with and we'd have no issues going to the party together. We'd go after her nap. I took out a pretty outfit since she rarely gets to dress up due to 'round the clock therapy. I wanted to take a shower while she napped, but I knew I couldn't take my eyes off of her. It's funny how sometimes I just know it's going to happen. Maternal instinct, perhaps. And then it started. I saw her starting to stiffen and I quickly jumped into action all while thinking, f#@%!, I'm by myself. I put her on her side. Grabbed the Diastat from the drawer. This will be the first time at the higher dose (7.5) of Diast...

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...

Driving home from the hospital the other day, just to take a shower, this new song by the Black Keys came on the radio. It's a good one and so appropriate for the title of this post. In my last entry, when I described Josie's FOXG1 diagnosis, I spoke too soon when I said it's still unknown if her "attacks" are seizures. I have been sure that they are seizures, despite four neurologists telling us they are not as all the EEGs did not pick anything up. Well, we know now that they are, in fact, "*ominous" seizures. On April 18th at 7:30 pm and on April 30th at 2:30pm Josie had the worst versions of her "bad attacks" (now known as seizures) that caused her to become unresponsive and turn blue. On both occasions I gave her breaths until her color came back. We knew right away that they were very bad because she was staying stiff for too long. It's usually one second of stiffness, eyes stunned, break, then again. But, in these two episodes...

[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...

That's a John Mayer song.. Supposedly about Jennifer Anniston. Anyway, The Johnsons headed West for a trip to Cali! We stayed at our Qello West Coast Headquarters, which just happens to be the former home of Jim Morrison! It's amazing and you just can't help but feel the ghost of music greatness all around you in Laurel Canyon. There is so much music history there. Before I get into Cali, an update on Josie's test results - we won't know until April! Seems the word is out about the Whole Exome Sequencing test and the lab has become inundated. So, we will wait. Now onto the week of sunshine, theme parks, and great sleep! Josie just sleeps better through the night when we travel! She loved California. We first stayed in LA, went to Disneyland, and Lego land, and then stayed down by the beach in Santa Monica! Josie's first ride! It was a Buzz Lightyear (baby) ride. So silly! Just hanging outside Jim Morrison's old home in the sunshine! They do...

Ok so this isn't Josie rolling all by herself, but it's so so close! She has what it takes and she's starting to put it together. Tanner is the paparazzi taking pictures while I was filming this. Notice how Rich is calling it the "tuck and roll." She's so close!

That's another Jack Johnson song. We're in a bit of a holding pattern now as we wait for the results from the Whole Exome Sequencing test. Any doctor we see now says there isn't much they can say until we get those results. We saw Dr. Magana this week - a pediatric endochronologist at Winthrop. He did Josie's measurements and the good news was that her height is actually on the charts, but her weight is still way below the "growth rate" charts. She gained 3 pounds since last december (2012). We talked a little about growth hormones, but she would have to be three years old, so we have a year before we need to think about that. She is still showing signs of progression. No milestones yet, but she is bringing her legs up to her belly now and she even rolled over a few times all by herself. Of course, not when I was looking, but we have witnesses. She is pushing her pelvis up by her legs, which is new. And she is so so happy. We spent 10 days in Florida o...