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....