Josie's Journey

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 ...

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...

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...

[This is the blog post written in 2014 when we got Josie's diagnosis and years before I knew I'd be co-founding the FOXG1 Research Foundation to find a cure] 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 Co...

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 do...

Ok so this isn't Josie rolling all by herself, but it's so so close! She has what it takes and she's starting to put it together. Tanner is the paparazzi taking pictures while I was filming this. Notice how Rich is calling it the "tuck and roll." She's so close!

That's another Jack Johnson song. We're in a bit of a holding pattern now as we wait for the results from the Whole Exome Sequencing test. Any doctor we see now says there isn't much they can say until we get those results. We saw Dr. Magana this week - a pediatric endochronologist at Winthrop. He did Josie's measurements and the good news was that her height is actually on the charts, but her weight is still way below the "growth rate" charts. She gained 3 pounds since last december (2012). We talked a little about growth hormones, but she would have to be three years old, so we have a year before we need to think about that. She is still showing signs of progression. No milestones yet, but she is bringing her legs up to her belly now and she even rolled over a few times all by herself. Of course, not when I was looking, but we have witnesses. She is pushing her pelvis up by her legs, which is new. And she is so so happy. We spent 10 days in Florida o...