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.


1 comment:

  1. Tried the Ketogenic diet when Ben was about three, couldn't get him to eat the stuff and he would go too far into ketosis. He can't talk so he couldn't tell us how sick and nauseous he felt. Didn't work , couldn't keep him in the right state of ketosis for long enough. Ben always had a lot of trouble eating , and a very sensitive gag reflex which caused him to vomit, OFTEN. I kept trying to feed him for 5 years because there was NO way I was putting a hole through his stomach . At five he was just too thin, I could count almost every bone in his body . He got his g-tube and a Nissan , so thankfully no more vomiting. And no more constant anxiety because I couldn't get enough food in him no matter how hard I tried.

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