Science, I Thought That I Could Help.

What would inspire me to come back to this blog after nearly four years since my last post?

A Facebook comment of course.

A friend from elementary school commented on a Facebook photo of me and Josie, "I miss your blog."
Those four words really hit me. I needed them. I loved keeping this blog. I wish I hadn't stopped because this journey sure could use some real-time journaling!

So, I'm back.

Anyway, remember when I was just searching for Josie's diagnosis?
Remember when there were only 93 people known in the world with FOXG1 syndrome?
Remember when the geneticist didn't really know what FOXG1 was?

Well, fast forward to today and it's a different story.
There are now about 900 people known with FOXG1 syndrome. 

Introducing the FOXG1 Research Foundation.

I did mention in my last post in 2017 that I launched the FOXG1 Research Foundation  

along with the yin to my yang, Nasha Fitter and a team of amazing FOXG1 parents.

Four years later and we are the global organization driving the research to cure FOXG1 syndrome. Say what?! 

I'm going to need some bullet points:

• We've raised about Three Million Dollars to date. Yes, I just said "million" like Dr. Evil. 
• We've funded the basic science to understand Foxg1 from the cellular and biological level. 
• We developed a research strategy that covers every known mutation type of foxg1 (7) and 
• We've developed a suite of models that cover these different mutation categories to test therapies. 
• We're considered innovators and, I quote, "legends" in the rare disease space. I can't believe this when I hear it, but yeah, we're pretty kick ask.
• We became Chan Zuckerberg Initiative "Rare As One" partners and 
• Received $500k to reinvent the way Natural History Studies are done with a machine learning approach. Ok, who am I? 
• We are working with three biotech companies on gene therapies and other cutting-edge therapies for FOXG1 syndrome 

No joke, we've done so much in these past four years. We built this Not-For-Profit like a startup, and we've amassed the most incredible team of scientists, scientific advisors, business advisors, and supporters. 

I'm still not excusing myself for leaving this blog behind. Thank you, Tracey Martin, for missing my blog. You made me see how much I've missed it to. 

There were experiences along this journey that Nasha and I would call "save it for the book" experiences.  If you're a close person in my life who has lived through some of the greatest challenges with me, I thank you for being there for me. I will hopefully reflect on them here. 

Buckle up, I'm about to get deep, and spiritual, and mushy. 

I knew from day one that Josie is my gift. Despite the incredible challenges and the heartbreaking seizures, she is actually the most precious gift. Even though at nearly 10-years-old she is still developmentally at the level of a one year old, I am so blessed for what she gives me and what she gives to this world. 

She has given me a purpose beyond anything I ever knew I could have.  

We have a big job to do, and we're doing it. And through it, Jojo and I get to love each other so hard. 

She still can't talk or tell me what hurts or that she loves me, but somehow I feel completely connected to her. We communicate in an unspoken way. She smiles and she belly laughs. She tries so hard. She grunts when she wants me to change her TV show.  She thinks I'm funny and laughs when I sing. Wait. Is the joke on me? 

This is life as we know it.  But she deserves so much more. While I won't stop working my ass off to give her and all her FOXG1 homies the abilities and the healthy life they all deserve, I thank my lucky stars every day that she chose me. 

I get to say that my work will make countless lives better. 

Our work will change the blueprint of human life. 

Every minute we spend towards finding or developing disease-modifying therapies for FOXG1 syndrome will add to the domino effect of science. 

The impact of our work is beyond measure.  Knowing that sure makes this a life worth living. 

I tell Josie-girl her name will be in history books one day. I love to think about her telling the story herself one day. 

Ya know, there is an FDA-approved gene therapy for SMA that is working. There are gene therapy trials underway for many rare diseases. We are at an exciting inflection point in our research and we are on the road to clinical trials. 

With that said, I promise to continue to blog about it. 

The soundtrack of Josie's Journey: "Tube" by Phish 

The title of this post sure is fitting with my life now. "I'd rather give myself to science. I thought that I could help." It's from the Phish song "Tube." When I hear them play it now, I chuckle. Oh and thank you Phish for getting me through the pandemic in such cool ways and leading me to some really special new friends.

This was the photo I posted on Facebook that led me back to this blog...

 
Just a normal Sunday morning in Josie's bed, singing our made-up songs, having a deep conversation, and practicing sitting up "like a big big girl."

Cruising in her bubble gum pink ride

This is "Rockty" He's a Rock-to-pus and Josie's favorite toy. He says things like "Let's jam." He's so cool.