Saturday, November 22, 2014
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.