Josie's Journey

That blog title is a song by Rhianna. And Rich and Tanner would roll their eyes and look at each other when I say, "we have a dance to that song in my dance class!" I say that often when we listen to Tanner's pop radio stations. And he says, without fail, "please don't start doing your dance, mom." I'm officially embarrassing. Anyway, where have we been? Why haven't I been blogging? I don't know why, but I can say it's so amazing that so many people have reached out to me to ask! If you're reading this, thank you so much for caring about us. So... 1. We have nurse care!! We can actually sleep through the night - sort of. Well, the truth is, it's not a perfect solution and one of us is still sleeping with one eye open every night. One problem is that there are about 4-5 different nurses who rotate shifts. They don't know Josie's ways. Her seizures are not classic convulsion seizures that are obvious to anyone. And s...

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 ...