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.



Anyway, the NYT article isn't out yet. I will be sure to post it here of course.

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