Monday, August 18, 2014

Step

Josie turned a corner this week in her walker. She would always just push herself a few steps backwards, but now she is taking steps forward! Her foot positioning might not be there yet, but it doesn't matter right now. Isn't that what 'baby steps' means?
She is wearing her new AFOs (ankle foot orthodics). They were molded to fit her perfectly and then painted with hearts :) She's so fancy.
It's still hard for her to keep her head up while using her leg muscles, but again, she'll get there.
Go Josie Go!


* Step is a song by Vampire Weekend (I've actually mentioned it before).

Monday, August 11, 2014

Love is all around...

I am incredibly moved by the outpour of love and support that is coming our way since I went public about Josie's diagnosis.

Three weeks ago I was interviewed by a writer at the New York Times for a column called "The Motherload: How She Does It." She had learned about my life as a working mom with a child with a very rare disorder. Ahead of this call, I realized I should use this opportunity to finally start the online fundraiser I've wanted to start. It was the right time - hey, maybe they will add the link to the story. So I signed up for Crowdrise, which by the way is a fantastic company, and I wrote Josie's story. At the same time I came out of the closet about Josie on Facebook. Up until this time, I hadn't mentioned anything about Josie for all to read. I wasn't ready. I knew that something would come up that would make me ready. With the fundraiser set up, I made the first donation and posted it to Facebook.

The emails came pouring in - donation after donation from family and friends from all walks of our lives. Every person who takes the time to read our story and then get their credit card and make a donation - is amazing to me. What may not seem like much, actually is. The IFF (International FOXG1 Foundation) is so small and has not been able to raise the money for the research mouse we need to start the research. In just three and a half weeks, Josie's fundraiser has raised more than $25,000. It's an incredible start and I am beyond grateful for every dollar and to everyone who wants to help us.

Later this week is the annual fair at Tanner's camp. This year the fundraiser chosen for all the proceeds to go to is Josie's! When the camp owner, Nancy, told me she would like it to be for Josie this year, my eyes filled with tears and I think I hugged her three times in a row. To further illustrate what an amazing woman she is, she wanted to make sure we discussed how to be careful not to put any focus on it being all about Tanner's sister. She very purposely left Tanner's name out of the fair flyer.



Josie has been doing better since she started the new medicine cocktail. Well, she did have a seizure on Wednesday (5 days ago) and we gave her the emergency Diastat. The seizure lasted about 5 minutes and she was unconscious when it ended - again. Dr. Maytal says this is a normal reaction to the seizure. Someone once told me a seizure is as exhausting to the brain as running a marathon is to the body. It scares the hell out of me when I can't wake her up.

Instead of calling 911 this time, we brought her to the local doctor, who is just minutes away, to assess that she was ok. When he tried to take blood, she made sure we knew she could be woken up. She kicked and cried as anyone would being poked by a needle while sleeping! Unfortunately, he couldn't draw her blood (very few people can), but we knew Josie was ok.

The good news is that this was her first seizure in two weeks. Coming from a period of multiple seizures a week, this is a good stretch! She's still teething. Her last two two-year-molars are coming in and I really think she will be much better once the pain of teething is over.

She's giggly and happy of course. Here she is with her cousin Ilyssa...


And Josie's cousin, Macy, had a bake sale for foxg1!


The song title of this post is an oldie, but goodie. The Trogg's Love is All Around was in one of my favorite movies, Love Actually. I'm pretty sure this isn't my first mention of that movie :)
Well, we feel the love all around.