Saturday, November 22, 2014

No Doubt


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 before we discuss a g-tube.

Anyway, fast forward to the last appointment of the week. We saw a new pediatric GI at NYU, Dr. Moy, who works with Dr. April often. Much was discussed, including a possible g-tube down the road. But, what was decided for now, is that we will go ahead and do the scope of her throat while having Dr. April remove her adenoids at the same time. And soon after that, we will do a 24-hour ph probe to determine the degree of reflux she is experiencing. So, I'm waiting to find out what day this surgery will be.

Now on to the seizures, we saw Josie's Neurologist Dr. Maytal and I told him all about the EEG at NYU that didn't pick up her grand mal seizure. He said, "There is no question that these are seizure. I saw it in my office and she has a genetic condition characterized with seizures. The seizure was probably too deep in her brain to be seen on the EEG. That happens." I believe this 100%, but will Dr. Davinsky?

Two days later we went to see Dr. Davinsky again and when I told him what Dr. Maytal said, he said "I agree." He said we do not have to try to capture another one on another EEG, as was previously discussed. And, he added, in a few months when the next trial opens for epiliolex (the cannabis anti-seizure drug) if we feel that it's the right idea for Josie, we will put her in it.

The good news is that we are seeing some improvement with her seizures since starting the ketogenic diet. Josie is still having frequent seizures, every two-to-three days, but the severity of them is much less. I don't know if it's just the diet or the combination of the diet and the new nasal spray rescue med, medazalum, or maybe it's a combination of all her meds, but the point is, they are less severe.

We talked about weening her off some of the meds that, as far as we saw, didn't help. If they didn't work, we would love to remove the side effects and let her true personality shine through. She is a lot more alert and connected lately, especially with her brother. It's so amazing how much she pays attention to him and adores him. Well, it's hard not to, but they have a very special bond.

Here they are together cuddling on the couch...




All of the doctors we saw, with the exception of Dr. Maytal, are NYU doctors. We also saw Dr. Kothare, the sleep neurologist, who wrote several books on sleep and the brain. Dr. Kothare came from Boston Children's Hospital where he saw a number of other children with Foxg1. It's refreshing when the doctor knows the condition. I feel so good having a team and perhaps one of the best medical teams in the world.

Dr. Davinsky is the neurologist we've been looking for. He's on the pulse and involved with the new medications and trials. We're continuing to discuss the drug that is approved in Europe that can potentially "fix" gene mutations. I feel that we're in the best hands now. I was pointed to Dr. Davinsky by a high school friend Kevin, who messaged me to tell me that a friend of his has a child who is in the epidiolex trial and he would be happy to speak to me. I called his friend as we spoke for an hour. As you can imagine, there is an immediate connection when I speak to another parent who is dealing with seizures and a genetic condition. This dad told me to do whatever I can to get in to see Dr. Davinsky.

I'm so grateful for my friend and this dad for pointing me in the direction that I have a very good feeling about. It is a reminder how that sometimes going out of your way to share something with someone that may help them can make an incredible difference - maybe even lead to a cure!

And yes, my music reference is Gwen Stefani's '90's band, No Doubt, whose album (or cassette tape) I played until the ribbon broke.

Monday, November 3, 2014

The more I know.. the less I understand.

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 about five minutes she stayed stiff for at least 10 seconds. So we went for the Diastat.

Before this event, I had discussed with the doctor on-call and our nurse that in the event of a seizure, I have the rescue meds.

That was the plan.

I administered the Diastat and about one minute later, our nurse come running back in to the room and was about to give Josie another dose of Diastat in her butt.

I stopped her.

I don't even want to think what would have happened if I didn't catch this. We have strict instructions not to use Diastat twice in a 24-hour period. Medazalin can be used multiple times. It's a nasal spray that supposedly works faster and shouldn't have the prolonged knock-out affect after.

Anyway, the seizure ended after 12 minutes and Josie went right to sleep as usual. I felt like we just finished a race and we were standing on a podium with our giant trophy. After five EEGs in the past, we finally got the full-blown seizure on camera and on the EEG. Now, they will have the data they need.

Victory!

The next morning, our trophy was stripped away. The neurologist at the hospital those few days, Dr. Miles, who works with Dr. Davinsky, came into the room and told me that he has been watching the video and while he sees the event he said, "the EEG is not showing a correlation with it being a seizure."

Excuse me?

How is that possible? We gave two sets of rescue meds (Medazalin and Diastat). We used oxygen. She stayed stiff for 10 seconds twice along with at least 20 other quick "tonic" stiffening. The entire team of nurses and doctors saw it.

He went on to describe the "event" he saw. He kept talking about Josie's arms flailing around, but he wasn't mentioning the stiffening. I asked to sit with him and watch the video with him to point out each time she stiffened and to show him when she stayed stiff. So we sat in the viewing room and we watched. What an interesting experience to watch myself handle a seizure. I seemed calm.

When I showed him exactly what we consider a seizure from the face she makes, to her arms stiff across her body, and her legs straightening out. He saw it. He flagged each stiffening event for Dr. Davinsky to see and he saw the two prolonged events. But, he showed me how when looking at those black lines that show brainwave activity, they didn't change much along with these events.

The next day Dr. Davinsky told me he also reviewed the film and if he were to guess he would say these are seizures even though the EEG isn't correlating. The video shows a pretty obvious seizure event.

Dr. Miles said if he had to guess, he would say they are not. He said maybe it's very bad reflux and has something to do with her lying down. This was actually the diagnosis we got after the very first EEG we did, two years ago, in which she didn't have a seizure during so I never knew how we could rule it out and call it reflux. Dr. Miles said he's seen kids stiffen and arch their bodies from reflux. I just don't know. I would say 80% of her seizures happen lying down, but there have been many sitting up.

So what now?

Dr. Davinsky asked us to stay a few more nights to try and capture another. Ever win a race and then you're told to start over? Disqualified. Well, we stayed two more nights and even lowered her meds to try and bring another one on, but as it goes, she rarely has a seizure a day or so after a big one, she didn't have another. By Saturday morning we were more than ready to go home.

Separately, both doctors thought there could be something going on with her breathing while she sleeps. I've been concerned about this. They recommended we do a sleep study at the NY Sleep Center. We did this, which I'll get to in a moment.

First, I want to talk about the Ketogenic diet we started while in the hospital. Here's a recent article about it in which the dietician we are working with explains the potential benefits for epilepsy patients. It's pretty amazing how this has been working for so many people for so long.

Jose is tolerating the formula called Ketocal very well. It's actually delicious. Well, it's about 90% fat and it's vanilla flavored, how can it be bad? I won't lie, I thought about putting it in my coffee. It's been three weeks since she started and her ketone levels have been good every day. They say it can take at least a month to know if it's working. She's still having a seizure every two to three days, so it's not working yet, but I will say the last few seizures have been milder than others. I also don't know if that's because the Medazalin is working before it turns into a grand mal seizure. We shall see.

So, back to the sleep study. Well, that was an experience. Poor Josie had to have 26 probes put on her head again for another EEG. And that's not it folks, she had to wear a thin plastic tube across her face and in her nose, two belts around her waist, and EKG wires.

I asked if we can arrive at 6:30 pm instead of 7:30 so that they can get everything all set and she can be ready to sleep by her normal bedtime - 7:30. We did show up at 6:30, but they were not done with all the technical finagling until 10:30pm! And then the techs came into the room every five minutes. Finally, a tech said to me, "There are three techs watching her. She is hooked up to every machine to monitor her. You should sleep." He told me to turn off my cell phone since it could interfere and just go to sleep. I was in a big bed with Josie and I thought I'd never actually be able to sleep.

The next time I looked at my watch it was 9:30 am! We both slept.

The results of the sleep study showed that Josie has mild obstructive apnea. That doesn't surprise me. They saw that she was restless and her brain was active all night. We are seeing an ENT this Friday and we will also see the sleep neurologist as well.

I feel like Sherlock Holmes. I got copies of the DVDs and reports of both this last EEG where she had the seizure that didn't correlate and of the EEG from April where our neurologist saw enough seizure activity to start her on anti-seizure meds. I'm having both neurology teams review both EEGs. Will Dr. Davinsky see the seizure that Dr. Maytal diagnosed as a seizure? What will Dr. Maytal think of the non-correlating event?

In speaking with Dr. Davinsky's Nurse Practitioner yesterday, she said they'd like us to try again to capture another seizure on an EEG.

I just have to sit back and breathe - deeply - for a moment before I can think about putting Josie through this again so soon.

In the mean time, I've asked Dr. D. if we can ween her off one of her medications as it's clear none of them are working and this one, Keppra, is the one that we think is causing her restlessness at night.

So that is where we are right now. So much to figure out. Many more doctors to see. Perhaps more hospital stays. But we will figure it out!


To be continued....

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.








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!

Monday, April 14, 2014

And now we have a diagnosis.

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 Congenital, which comes with the FOXg1 variant, means it started at birth.

From the evening of April 8th until our appointment with Dr. Iglesias on April 10th, I read everything I could about Rett Syndrome. While I felt devastated and deflated of the hope that no-diagnosis provided, I took some comfort in a few things: Retts isn't that rare; it's one in every 10,000 to 20,000. The foundation, the IRSF, is very well established and the research has come a long way; they're in Phase Two of some clinical trials. The community through the IRSF is tremendous. I felt comforted by being amongst a large group of parents.

That quickly changed when we sat down in Dr. Iglesias' office. Josie's disorder could not be more rare. She has a form of Retts, yes, but FOXg1 is different, there are 93 known children with it in the world.

The International Fox Foundation is the community, the foundation, of children just like Josie. Actually, I can't say "just like." Josie's mutation was caused by a misspelling not a deletion. Basically that means that two letters in the gene code were flip-flopped. And of the 93 kids with FOXg1, known to the IFF worldwide at this point, so far, we only know of one other with the same gene mutation.

Rich and I are not carriers. She didn't get this from us, she likely created it herself at conception. It's possible it was in either the egg or the sperm and that is why it wasn't found in our genome tests, but it is more likely that it started within Josie. Genetic disorders have to start somewhere. And it is very unlikely to have anything to do with Josie being IVF. It is truly no ones fault.

We sat in the doctor's office and received the worst news a parent could possibly get. He said he wants us to know what to be prepared for so we can have everything Josie needs.

He said seizures are very likely. Although she has been tested four times for seizures and all tests were negative, we believe the "attacks" she has are seizure related. She has two types of attacks that we named her "eye attacks," which happen daily, and the "bad attacks," which (knock on wood) we have not seen in more than a week. I will get into those in another post. Mind you, there are FOXg1 kids without seizures.

I believe Dr. Iglesias wanted to paint the worst-case-scenario for us, or at least just tell us what he knows from the not-so-many kids who have this. He said she may stay right where she is for a few years, but eventually her muscles will start to tighten and it might become harder to swallow, perhaps breathe, and move. She may need a peg tube in her belly to stay nourished. And he told us one day we may even consider an assisted living place for her if around-the-clock care is too difficult to manage at home. Well, that's not happening. And we'll cross that bridge IF we come to it. The worst words ever uttered to my face came when I asked what her life expectancy is and he said, maybe teens. But since then, I've read about Foxg1 kids in their 20s.

There is much more to tell about this syndrome and this blog will continue to be the place where I do.

I don't know if I can ever express how I feel. It's a wave of so many emotions - some, there are no words for. Sleeping is difficult; I've been feeling faint and foggy; I'm overcome with a sadness unlike anything I've ever known before. I'm exhausted and for the first time in my life I don't know if I can stay strong. I just want to protect my children. I want to protect Tanner from feeling how Rich and I feel. Tanner has such a beautiful view of his baby sister. He knows things are harder for her, but he is positive. He always says things like, "When Josie talks, she's going to say..." Or, "When Josie walks, she's going to play with my toys." I want to protect her from pain. I want to help her, help her, help her. I have this overwhelming energy to make a difference - this feeling of knowing that I can do something to help.

Our precious, smiling, laughing, beautiful baby girl has a real syndrome that will make life very difficult for her. I don't think I will ever accept the dismal prognosis. In my heart I don't believe it. They haven't seen Josie yet. I've always said this will be Josie's story to tell one day and I will hold on to that belief. I have to. And I ask anyone else thinking of Josie to do the same. Please keep positive thoughts for her. She's only two (and almost a half) years old and she has parents and family who will stop at nothing for her.

No matter what Josie does or doesn't do, we couldn't love her more. She brings pure joy to this world and in our eyes she is perfect.


Some pictures:
Josie with her biggest fan, Macy!






Wild hair - don't care.


Trying on glasses!

Tuesday, March 4, 2014

Queen of California

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 don't share iPads


Thank you for loving Josie Dasha!


This is NYC made out of legos!! How amazing?!


And Vegas!


Cute little Ewok


Sibling conversations over lunch


Talk to the hand brother!


Beautiful evening in Santa Monica

Wednesday, February 5, 2014

Roll with me baby

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!

Sunday, January 12, 2014

Sitting, Waiting, Wishing...

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 over the holidays and I think Josie is trying to tell us that she prefers warm weather. She slept so well!! I'm talking - though the entire night plus long daytime naps. Amazing.

Sibling cuddles in Christmas PJs.


Christmas morning. Santa did good!


Laughing all the way to the airport...


Laughing in the hotel room with Josie's biggest fan - cousin Macy.


Laughing from daddy's kisses on the beach.


Shooting hoops.


This was my surprise gift for Rich and Josie. Lyrics from the Paul Simon song "Father and Daughter."