Tuesday, October 14, 2014

Between the Moon and New York City

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 Dr. Davinksy. I'm not sure if my pleading email helped, but we got in pretty quickly to see him. On the drive in, Josie had a seizure. Rich was driving and pulled over and we handled it. I was able to video it to show him when we arrived.

There were a few "best" parts of the visit. Most importantly, Dr. D. gave us a very understandable explanation of Josie's particular foxg1 mutation. He showed us how her truncation occurred and how critical this gene is for early-on brain development. Then, he went on to inform us that there is currently a drug approved in Europe that continues where the truncation left off. It extends the gene. So say a gene is a sequence of letters that should be 10 letters long, but they stop being written after five letters, this drug can continue the rest of the letters. Wow. There is a drug that does this and it's already out there. I will be sure to learn much more about this. I have a very good feeling about gene therapy.

Moving on, Dr. D said he can probably get Josie in the trial for Epiliolex, if not the current trial, then the next one that begins in six months. He does, however, need to capture a seizure on a Video EEG for it. So that is reason number one we are heading in today for a few nights. We actually want Josie to have a seizure, but not until the probes are on and the camera is rolling.

Second, while we are in the hospital he recommended we start Josie on a Ketogenic diet. This diet has proven to be a successful treatment to stop or limit seizures for many many years. So why doesn't everyone do it? It's not easy. The diet basically cuts out sugar and carbs so that the body goes into a state of ketosis, which leads to a reduction in seizures. Sticking to the high fat/protein : very low sugar/carb ratio is critical to the success of the diet. If Josie wears a lotion that has some sugar in it and she licks her hands (which she always does), the diet can be thrown off. It should help that she is not eating food right now and only taking bottles. Ketogenic diets are actually easiest for children with g-tubes, but we are hoping to avoid a g-tube right now and since she is taking bottles, this should work out.

So we'll be admitted in a few hours and I'll know a lot more.

Josie had such a great time this past weekend in Montauk for the Montauk Columbus Day Fall Festival.

Look at that smile...


SO big!


Daddy's so funny!




Blurry, but fun.


The family.


My little skater boy.


Monday, October 6, 2014

Love and Hope

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 Diastat. I watched her for a few seconds to gauge how bad it was, and it was bad. She was staying stiff for those extra few seconds that define "bad seizure" from "mild seizure." I was trying to put the lubrication jelly on the tip of the Diastat, but my hands were shaking so much I kept missing. The jelly leaked on to the bed so I scooped it onto the tip and moved forward. Insert - count to three - press down - count to three (I probably counted to 10) - pull it out - hold her butt cheeks together. Gosh, how many times am I going to write the words butt cheeks!

It's those minutes after I administer the Diastat that are the most frightening. I know it will end soon, but it takes a few minutes. I grab the oxygen and keep it by her face. Every time I think she's fine and I take it away, she stiffens again. So, I keep it there. About four minutes later she passes out. But, just when I thought it was over and she was out, she opened her eyes twice more stiffening. That's when I called Rich and asked him to come home.

I didn't want Rich to leave Tanner's football game. The goal is to not disrupt Tanner's life. Rich ran to the coach and said, "I'll be back, I have an emergency at home." Tanner looked at the coach and nonchalantly says, "It's my sister, she has seizures." Rich was back at the field just 15 minutes later. And Tanner's team (the Jets) won their first game!

I laid next to my little passed out princess and cried my freaking eyes out. I don't do that enough. So once I started, I knew it wasn't going to be a 10 minute cry, more like hours. She's just so beautiful and sweet and precious and I have more love for that little muffin than I can ever express. All I want is for the seizures to stop. And I want her to walk and talk. That's not so much to ask is it? I kept thinking about all of our wants and needs in life. Everyone wants so much, right? We want nice clothes, straight hair, curly hair, money, success, things, vacations, things, good food, to be thin, to be strong, to have fun, to have friends, to feel good, to have things. Things, things, things.

Talk about perspective.

All I want is for my daughter to never have another seizure again and for her to be able to walk and talk. I want Josie to be able to move herself when she drools and her cheek is stuck in it. I want to take her to dance class one day in a tutu, but I'll be perfectly fine with her just being able to walk and talk and to be healthy in her brain and body.

I had a dream the other day (during a much needed daytime nap) that Janice called my name, "Nicole, come here" and I panicked as I do when she calls me like that. But, when I got to Josie's room, she said, "Look at her." Josie was sitting up in her bed all by herself. She got herself to the sitting position, and she said, "mommy."

I believe in the power of visualizing what you want in life. See it. Smell it. Visualize every detail. The Secret talks about this. So, I choose to see dreams like that over and over. I have other specific visions. One, Josie is a child running down a hill laughing, in a dress with pigtails. Another she is a teenager standing at a podium in front of a room filled with people. She's wearing a navy dress and has her light brown hair pulled back behind her ears. She says, "My name is Josie Johnson. My mom always said this would be my story to tell and I am here to tell my story. I am a miracle."

The title of this post is my inspiration song. It's called "Love and Hope" by Ozomatli. I've been running to it for years and it always gives me the extra push to keep going.

Just raise your head up and stand up, no fear in your eyes
Tell me love and hope never die
So raise your head up and stand up, no reason to cry
'Cause your heart and soul will survive.