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.