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.

Wednesday, September 24, 2014

Somebody Who (can stay awake)

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. Sigh. After the third one, we went back to the hospital for another two nights of video EEG monitoring. As I expected, nothing was captured. She has never had a seizure a day later. The closest together they have been is two or three days. Still, the doctors started a new medicine. We've added onfi and we will soon ween off keppra. This could be the cocktail that stops them!












After note: At midnight, after writing this post, she had another seizure while sleeping. The new med, onfi, isn't in her system yet so it's still too early to judge.

Tuesday, September 9, 2014

Major correction

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 seen at least 30 foxg1 families at the time of our call.
Of course, I had and still have so many questions for him. And he had answers or points of discussion for every one.
I told him I've basically gotten the worst prognosis a parent can get.
He said, "What do you mean? What were you told?"
I said, "That the lifespan is teens - at best. How do parents handle this?" I probably started to ramble about my fear of watching her suffer; the years we will try anything to help her while knowing in the back of our minds that...

He stopped me.

He said, "that isn't true."

I didn't say a word.

He went on to explain that there is not a single case of a foxg1 person with a shortened lifespan. Our geneticist, who is probably one of the best in the world, had very little information about foxg1 when he met with us. There were only 30 known at that time and Josie is the first foxg1 case he has seen. He was reading information about Rett Syndrome because foxg1 was, up until recently, called Congenital Rett Syndrome. The two conditions have many similarities, but significant differences too. Dr. p told me that one difference is that Rett children (usually girls) can also have a heart abnormality, that is not the case with foxg1. The NIH has actually removed the Rett reference from foxg1 and it is now a stand-alone condition.

The heaviest weight was lifted off of me. The pit in my stomach was filled. My breath came back to my lungs. To be stripped of the positivity, which is the nature of my being, was incomprehensible. Dr. P. gave me back my ability to lose the fear and stay focused on everything Josie can do one day.
I don't blame Dr. Iglesias. I realize he had very limited information to review in the short period of time from when he got the test results and we entered his office to hear them.

I'm writing this story because while talking with my sister this summer and telling her how I felt in those few weeks, she looked at me and said, "You never told me the new prognosis!" Oh my gosh! I was in such a whirlwind and a fog, and although we talk all the time, somehow I didn't tell her the most important news to know! Who else did I or didn't I tell?! I'm so sorry, Jenny!

Well, the point is - there is no limit to what Josie can do. It may be harder for her to reach certain goals and she may have a long way to go, but as a friend recently reminded me, she has a long way to get there.




An article about us in The New York Times

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 night. She has had seizures while sleeping, so she must be watched at all times. Last night it was Janice, our nanny. I still watch her in the monitor all night.

My husband stays here on weekends. He usually leaves Monday morning and comes back Thursday or Friday. Our nanny stays here with me during the week. She doesn’t live with us at home, but it’s a risk for me to be home alone without help. Say I’m giving Tanner a bath. There really can’t be a minute when someone’s eyes aren’t on Josie. Janice is like family; she’s a godsend. She’s been with us since Josie was 3 months old and she loves her and knows her as though she were her own child.

My son, Tanner, who’s 7, slept with me last night and most nights lately. I got him on the bus to camp while Janice gave Josie her breakfast, then I went for a four-mile run and took a shower. I answered some emails — I would like to try to follow the advice I read once not to look at emails when you first wake up, but I read them all day. Then I spent some time with Josie.

Josie has a very rare genetic condition called FoxG1. She was 4 months old when we first realized she wasn’t developing as most babies do. She wasn’t tracking with her eyes. And as time went on, she didn’t show developmental progress. She is now over 2½ and she can’t sit up unassisted or pull herself up. She can’t crawl, although she’s starting to scoot backward a little. She doesn’t have words yet, but somehow I feel as if I understand her.

It took almost two years and many doctors to get a diagnosis. FoxG1 has many of the same symptoms as Rett Syndrome, but there are some significant differences as well. For one, it starts before birth. There are only about 100 known people with it in the world. My husband and I are not carriers. It just happened. It’s called de novo when it starts in the child.

In the winter, we would have many therapists coming to the house every day. Here, we don’t have so many. Typically Josie has physical therapy five times a week, occupational therapy five times a week, vision therapy three times a week, a special educator three times a week, and a feeding and speech therapist three times a week. There wasn’t any therapy today, but when there is, I try to be part of the sessions.

Josie went down for a nap, and Janice stayed in the room with her. Since April her seizures have been pretty terrible. We have been trying to get the medicine right. We just added a new medication, Keppra, we hope will be the trick to stop them.

I went to my office area to work. Phone interviews, two conference calls and emails. Qello Concerts is our first streaming app that my husband co-founded and in a few months we’re launching another streaming service called QKids. At home, during the year, I’m in the city working one or maybe two days a week, but since the seizures started it’s less often. It’s hard to be far. I mostly work from home. Qello Concerts is sponsoring a music festival in September and I’m just realizing, how can we both be gone? We’re just not going to be able to both go.

Tanner gets off the camp bus at 3:30. I unpacked his messy backpack, pulled out his art project for the day and made a big deal about it. It’s important that Tanner isn’t shortchanged. When I was in the hospital with Josie for five days and six nights, he said: “You’ve never been away from me that long. I know Josie needs you, but I need you too.” I couldn’t believe he could communicate his feelings that way. I was proud of him for that.

A wonderful friend came to pick up Tanner to go to her house for a play date and dinner so I could finish my work. At 4 I had a call with Josie’s new case manager. We are in the arduous process of applying for home care. We should qualify for a night nurse so that a real nurse can stay up with her and we can sleep and not worry.

I went to join Tanner for dinner at our friends’ house, and our nanny took Josie out for a walk in her stroller. She loves going for walks. When we came home we did Josie’s nighttime routine.

The thing about Josie is she’s so happy. She laughs. She anticipates. I say “nnnn-nose” and touch her nose and she laughs so hard. We call her our “joyful challenge.” She doesn’t cry really. Only if she’s trying to tell us something, like if she’s teething. Of course she’s not happy while she’s having a seizure, or if she’s been throwing up, but otherwise she is so happy. And she’s trying so hard.

We did her medications. She has difficulty feeding and she gags, and lately she throws up her seizure medication. It must taste bad. I would get three milliliters in her, she would throw it all up, and 10 or 20 minutes later, I would try again. Her other medication is sprinkles that we put on her food, and if she doesn’t want to eat, getting her to eat it is such a challenge, she tongue-thrusts it all out. I try to salvage every sprinkle. I don’t know how we will know if it’s working if she’s not getting it.

The medicine routine could take an hour, then we do a bath. She loves the bath. She loves the water. We take her to the pool a lot in Montauk, and she is so happy.

I gave her the last medicine before bed, and she was asleep by 8. Whether she sleeps through the night is a gamble. If she’s up being vocal or restless, I’m on high alert.

Before bed, I updated Josie’s blog. I keep a blog to help me chronicle her journey and so that family and friends can keep up with her without me always having to be a reporter. Maybe it can also help other parents in a similar boat. I also decided it was time to create an online fund-raiser for FoxG1. I haven’t said anything on Facebook about what’s happening — it’s been so hard to explain. But I thought it was time, so I did this, and shared it. I called it Josie’s FOXG1 Fundraiser. The money we raise will go to the International FOXG1 Foundation.

Tanner won’t go to bed without me, so I have to shut it down by 9:30, which is already too late. We read a book to keep up with his summer reading. He gets me to scratch his back for way too long.

If I’m alone with the kids and Josie does have a seizure, I try not to let Tanner see. It happened recently. Josie started to have a seizure when Tanner was on the couch watching TV. I took her out of her chair, grabbed everything I needed — oxygen, emergency meds, my phone. I put her on her side on the floor. I put the dissolvable Klonopin in her cheek as soon as it started. She stiffens for a second then stops, stiff and stop, stiff — stop. I turn on the oxygen in case she stops breathing. I watch the clock. Three minutes went by and the Klonopin isn’t stopping it. Then it became a grand mal seizure — she stayed stiff. This is when my heart jumps out of my chest. I pulled off her diaper and inserted the Diastat. I hold her butt cheeks together out of fear that the medicine will come out. And I wait. After about two minutes she let’s out a cry. It wasn’t the “seizure scream” she often does, but I knew it was over. She came out of it, I held her on my chest. I handled it. Tanner didn’t know.

I should be clear, it’s not woe is me. We’re blessed. Sunday night we went to see an amazing live music show (right across the street from our house). I go running. I go to dance classes. I do yoga (with my phone on the mat). I spend time with friends. I love our work. I am grateful. We’re keeping it together. We’re keeping what matters.

Monday, August 18, 2014

Step

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).

Monday, August 11, 2014

Love is all around...

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 - donation after donation from family and friends from all walks of our lives. Every person who takes the time to read our story and then get their credit card and make a donation - is amazing to me. What may not seem like much, actually is. The IFF (International FOXG1 Foundation) is so small and has not been able to raise the money for the research mouse we need to start the research. In just three and a half weeks, Josie's fundraiser has raised more than $25,000. It's an incredible start and I am beyond grateful for every dollar and to everyone who wants to help us.

Later this week is the annual fair at Tanner's camp. This year the fundraiser chosen for all the proceeds to go to is Josie's! When the camp owner, Nancy, told me she would like it to be for Josie this year, my eyes filled with tears and I think I hugged her three times in a row. To further illustrate what an amazing woman she is, she wanted to make sure we discussed how to be careful not to put any focus on it being all about Tanner's sister. She very purposely left Tanner's name out of the fair flyer.



Josie has been doing better since she started the new medicine cocktail. Well, she did have a seizure on Wednesday (5 days ago) and we gave her the emergency Diastat. The seizure lasted about 5 minutes and she was unconscious when it ended - again. Dr. Maytal says this is a normal reaction to the seizure. Someone once told me a seizure is as exhausting to the brain as running a marathon is to the body. It scares the hell out of me when I can't wake her up.

Instead of calling 911 this time, we brought her to the local doctor, who is just minutes away, to assess that she was ok. When he tried to take blood, she made sure we knew she could be woken up. She kicked and cried as anyone would being poked by a needle while sleeping! Unfortunately, he couldn't draw her blood (very few people can), but we knew Josie was ok.

The good news is that this was her first seizure in two weeks. Coming from a period of multiple seizures a week, this is a good stretch! She's still teething. Her last two two-year-molars are coming in and I really think she will be much better once the pain of teething is over.

She's giggly and happy of course. Here she is with her cousin Ilyssa...


And Josie's cousin, Macy, had a bake sale for foxg1!


The song title of this post is an oldie, but goodie. The Trogg's Love is All Around was in one of my favorite movies, Love Actually. I'm pretty sure this isn't my first mention of that movie :)
Well, we feel the love all around.