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
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


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.

Monday, July 14, 2014

I want a new drug...

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 turns staying up all night. It's like having a newborn all over again, but worse because of the fear. I really need a night nurse and I'm going through the process of applying for Home Care through the state. It will probably take a a few (or five) months, but there is a light at the end of the sleepless tunnel. I may need to find a nurse in the mean time for a night or two to break it up.

Anyway, outside of the hospital zone this house has been feeling like, we are actually enjoying summertime in Montauk! We've been bringing Josie swimming often and she just loves being in the pool. She swims (being held of course), she kicks her legs and arms together and smiles away. Hydrotherapy is amazing for her.

Rich and I are seeing some incredible live music our here and Tanner is loving camp! We are very lucky to be in this place we love so much. Just riding my bike to town to pick up some groceries makes me so happy. And I have some incredible friends out here that show me in so many ways how much they care. Just asking me how Josie is doing means so much to us.

Oh here's a cute story that Tanner said the other day. He was giving me a hard time getting in the bath and when I finally got him in there I must have let out a giant sigh. He said, "It's hard having kids! Especially two kids. Especially one that has Foxg1 and seizures!"
We then agreed together he should make it easier on me by getting in the freaking bath the first time I ask! :) He's really an amazing boy.

Josie got glasses! Pink frames of course. She likes them most of the time, other times not so much.

And pink sunglasses! How cool? The lenses are supposedly anti-seizure lenses. Can she sleep in them?

Johnson family swim time!

Coach daddy!

Oh how I love that boy's face!

A Montauk sunset

Epic night seeing the incredible Gary Clark Jr. right across the street from our house.

Tuesday, June 10, 2014

Over and Over and Over

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 every event, but the most important one is certainly a story to tell.

On May 20th I took Josie to see Dr. Maytal, our neurologist, for a follow-up visit. In the waiting room she was laughing away. They called us in and weighed/measured her and then had us wait in a room for the doctor.

Josie started to have an eye attack and then started to tense a little. Oh no. I called for someone to please get Dr. Maytal right away. When he came to the room, Josie was having a full-blown seizure - prolonged stiffening, eyes widening, and she started turning blue/gray. Dr. Maytal was observing what was happening while I was pretty much freaking out saying, "do something!"

I had the diazepam on me and he called in his nurse and asked her to teach me how to use it. He made sure we waited for her to be seizing for at least three minutes before administering it. That felt like hours. For the first time I saw the "seizure scream" in front of me. It's like she breaks from the seizure to yell in absolute terror and then she started convulsing, which I never saw before. The nurse gave the diazepam and gave her oxygen.

Josie started to settle down about one minute later. They called 911 from Cohen's Children's Hospital, which happens to be next door. We took the ambulance over (about a 1 minute ride), back to the ER, ironically in the same room we were just in a few weeks earlier. They got the video EEG probes on Josie's cute little head again and we stayed the night. Yes, I had another Dole pineapple cup.

I couldn't have asked for Josie to have this seizure in a better place. After such a long time of several neurologists telling us they are not seizures, it was like Josie was saying, "dude, this is how bad it is." There is absolutely no question now. Now, it's a matter of getting her meds right and keeping her safe.

She is on Topomax 15 mg 2x/day and Depokote 3x day (1.5, 1.5, 2 mg).
She's also taking Carnitine to protect her liver from the Depokote, and at night we've been giving her Melatonin, which is helping her sleep, well, with the help of the heavy meds.

As I said, she had another seizure this morning, so we're not there yet.

Separately, we recently met with Dr. Djukis, the Neurologist/Geneticist who runs the Rett Center at Montefiore Hospital in the Bronx. Although Josie doesn't have Rett Syndrome, FOXG1 has many similarities, and Dr. Djukis sees some Fox kids. It was an amazing visit. She basically went through every touch-point of Josie's life and made sure we are doing everything we can for her. What a dream appointment! More to come on our progress there.

*Over and Over and Over is another song by Holy Ghost! That band sure gets a lot of play on this blog.

Wednesday, May 7, 2014

Turn Blue

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, her stiffness felt like three to five seconds long and I couldn't get her out of it. I was yelling "Josie, Josie," and she didn't respond and started fading off, eyes rolling to the side and up, she lost her color - turned blue. On both occasions we called 911 and was rushed by an ambulance to the hospital.

The last one, on April 30th, was the worst one yet. I gave her breaths for longer than the previous times and once her color came back, she went into the attacks again. The EMT took her to the ambulance. Our nanny, Janice, told me a few days later, when we were able to laugh at each other, that I ran to the ambulance with my sneakers half on my feet and my arms reached out like a bird. Tanner wished we got video of that! Anyway in the ambulance, they gave her a nebulizer. She was still having the attacks - they stopped when we got to the hospital.

The greatest sight was seeing our neurologist, Dr. Maytal, who is the Chief of Pediatric Neurology at LIJ and was already at the hospital. You see, we had seen him the week before in his office, a few days after her April 18th episode. At that time I told him I am sure she had a seizure and I will stay in the hospital doing EEGs until we find one. So we scheduled a video EGG that was supposed to take place the very next day on May 1st. Well, the video EEG started a day earlier than planned.

On Thursday night in the hospital she had a mild episode where she stiffened and looked stunned. It only happened about three or four times, but I called the nurse in and I knew it was caught on camera. The next day Dr. Maytal said he reviewed the tapes and didn't see any seizure activity. This was the fourth time we were being told this. He said GI would come in and talk to us about reflux, which often presents like seizures or spasms. Yes, I know, we've been down this road. I did speak with GI and there are issues there we are addressing.

I told Dr. Maytal she had the episode at 8:30 pm the night before while hooked up to the EEG. I said, "please find that moment on the tape and tell me that is not a seizure."

He had me sit with him and in the second when I said, "there it is," he looked closer at the EEG activity and his face changed.

He said, "Yes, that is it and that is *ominous. I am going to show this to other neurologists and come talk to you." He said, "you caught it mommy, you are like a hawk and you are persistent." I refrained from saying, Damn straight I am!

So her seizure was identified as a myoclonic seizures, although it was said that it's hard to say for certain the exact type of seizure it is as they are not typical.

Josie started Topomax on Friday. On Saturday night (at 2 a.m.) she had more seizures. Unfortunately, she was not hooked up to the EEG because her skin needed a break. Rich got video on his phone and the doctor gave her Ativan to stop it. The Ativan did stop it, but on Sunday Josie couldn't swallow and was so cranky. I had them give her an IV since she wasn't eating or drinking. They hooked her back up to the EEG. There were no events and on Monday morning they took it off of her and we talked about leaving. A few hours later, in front of the neurology team, but again not on the EEG, she launch into more attacks. She came out of them on her own after about 20 minutes. We still came home later that day.

We don't know if the Topomax is working yet. I have the emergency medicine (Dizapam) at home with us so if the "turn blue" seizures occur again, I know we have this medicine to stop it. We will not take our eyes off of her. I am praying this medicine works and the worst seizures are behind us.

I must say, the support and love that has been shown to me over the past few weeks has been amazing. From family and old friends to brand new friends, we have been so comforted by the incredible concern and offers to help us in any way. And I believe that all the people praying for Josie to overcome this will help her do just that - overcome this.

Josie fell asleep on my chest after the April 18th seizure.

In the ER with the EEG hooked up - just waiting for our room. I was so relieved she was safe.

My precious little girl

Happy with her favorite ball!

My diet for 5 days.

Back home!