It's in the Genes

A lot of exciting things are happening in the world of gene therapy. This is especially true for families like mine who are battling the debilitating effects of Rett Syndrome every day. I don't typically write about such topics because honestly, it's not my wheelhouse. I don't do science jargon. It tends to overwhelm me, it feels like years away (a too promising to be real), and I just need it broken down. Today is a new day. It is a day to get out of my comfort zone and talk about something that has the potential to radically change our lives.

Evie - July 2017

I have been loosely following the developments in gene therapy for the last year. Research and breakthrough developments have been going on for much longer than that, but I refused to take much interest because I felt like it was going to give me false hope. That was the last thing I needed...false hope. There are days that keeping a hold on the tiniest bit of hope is difficult and I wanted to make sure I was holding onto something that was safe and secure.

Fast forward to today and I feel differently. A LOT differently.

Gene therapy is a strong contender as a treatment and potential cure for Rett Syndrome. That's HUGE! Imagine what that could mean for thousands of families and what it could mean for other disorders? What will it mean for Evie? Will she walk? Will she talk? Will she be able to brush her own hair and save me the hassle (yes, it is a hassle, she HATES it)? Will it correct her dystonia?Stabilize her hands so she can feed herself? Will it open up all those doors that slammed shut on our D-Day?

The answer:

We don't know.

Yet...

Those three letters hold the key.

Y - E - T

Sometime within the next year, we hope to have the first gene therapy trial for Rett Syndrome underway. Those selected to participate in the trial will be the first girls with Rett that will pave the way and hopefully unlock a new hope for all the families coming behind them. It is a long term commitment for the participants and (crossing my fingers) we hope to be in that first group.

There are many that aren't comfortable being the first ones to try something unproven. We struggled with this decision and after asking some hard questions (like will we kill her just trying this) and  talking it over with trusted family and friends, we went all in. And I mean ALL IN! No matter what is asked of us, we will make it work. The chance that Evie may regain even a fraction of function is enough to compel us to toss our name in the goblet of fire.

Besides, isn't this why I runDisney every single year for the past four years and have already signed up to run with Team GP2C again in 2019? Even though I feared false hope, I still had hope and trumpeted belief that a cure is coming. It has always been a matter of when...not if.

Rapunzel & Pascal running Disney Princess 5k 2018

As I write this, there are families living with Spinal Muscular Atrophy (SMA) that are undergoing a similar gene therapy trial through AveXis' (which is now a part of the Novartis family). We are all watching closely and with bated breath. Even a glimmer of hope is enough to keep me  moving forward. In the meantime, I'm waiting with Evie's name already written on a slip of paper ready to toss it into the goblet when the time comes.

If you'd like more information about Rett Syndrome, the gene therapy information, or how to help/participate please check into the links below.

For the Love of Evie - As I mentioned, we run with Team GP2C every year in the Disney Princess Half Marathon and if you would like to make a donation in honor of Evie, you can do so at the link provided. Team GP2C is 150+ members strong and we will run #untiltheycan.

Rett Mom Power!
Making every step count in the Disney Princess Half 2018.

Center for Rare Neurological Diseases - Dr. Daniel Tarquinio operates the CRND just outside of Atlanta and currently works with Rett Syndrome, Pitt-Hopkins, Lennox Gastaut, and many other rare neurological disorders. You can contact his office at the link listed.

Dr. Daniel Tarquinio

Rett Syndrome Research Trust: The Future is Now - Welcome to the future of medical practice. What was once thought to be a science fiction dream is becoming a reality a lot sooner than anyone anticipated. This means the FDA has to be on top of the advancements and making sure these treatments are safe and effective.

“Gene therapy represents one of the most promising opportunities for developing highly effective and even curative treatments for many vexing disorders. Some of these products are almost certainly going to change the contours of medical practice, and the destiny of patients with some debilitating diseases.” 

~Dr. Scott Gottlieb