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

Momma Said Knock You Out

I LOVE BOXING!!!

When I first heard of my friend's boxing gym (Boxing Bunnies) I thought, "I might enjoy that." But I was very hesitant. I still had Evie at home full time, logistics just seemed insurmountable, and what if I looked ridiculous (at times I'm sure I do). I told myself, "Wait until she is in school." And that is exactly what I did…I waited. Then it was time to put up or shut up.

I took the leap in January and committed to two months of unlimited classes. I told myself I would go at least twice a week and as time progressed I would increase my workouts (I am now up to three classes a week). During my first class I felt a bit intimidated. There were women there that had obviously been coming for quite some time (seriously, some of them are beasts on a heavy bag). I felt like I just couldn't keep up. But I was not willing to turn in my boxing gloves just yet.

You see, I have some pretty strong motivations for pushing through the pain. I need to be stronger and healthier in order to care for Evie. She needs me. If I am not there for her, then who is going to be there? I also needed an outlet for my anger. Watching my baby girl struggle to do the simplest of tasks makes me so angry. It was festering inside like a cancer. I stopped feeling joyful. I stopped finding things humorous. I stopped being me. Sure, I could plaster on a smile and fake it well enough when I needed to, but those closest to us knew I was slipping away into a world without hope. Ann Marie and my fellow Bunnies became one of my life savers (the other one is a topic for another day).

The workouts are intense, our trainer is an evil monster at times, but we always have fun and we are always supportive and encouraging. Don't feel comfortable doing Hello Dolly's? No problem we'll work out a modification that will work for you, but keep trying because you'll get there (barring you have a physical complication that makes it impossible).

While I was initially intimidated by those feminine beasts beating those bags, I was also inspired to get to where they were. I was not going to be satisfied just getting through my workouts. I wanted to knock them out! It was a competition against myself to be better than I was during the previous workouts. And it is working.

• I can hold a plank for 60 second (not every time, but I'm getting there).
• I can do at least 10 push ups (on my knees) in a row and not feel like I am going to die.
• I have a pretty decent right hook.
• My arms and calves are starting to get some definition.
• My knees don't hurt as much as they did before I started boxing (except for a recent case of tendinitis).
• I can do a burpee!!!
• I spar and have taken a few good shots to my well protected head.
• I also learned how to braid my own hair.
• And I swear my butt looks better (but it could be in my head).

I didn't measure or weigh myself the first two months. That was not my goal (but it is a perk) so it was not important. However, at the beginning of March, I measured myself and by the beginning of April, I was down an entire inch around my chest, half an inch in my waist, and a quarter of an inch in my hips. My clothes fit better (in fact some are too baggy). People have been noticing that I look slimmer (Woo-Hoo!) I'm happier and feel more balanced. I have more confidence in myself. I honestly feel like if I set my mind to something I am going to do it!

That confidence has led me to decide that I CAN (and will) run a half marathon in honor of my daughter. Over the last four months I have built up my endurance, my strength, and my determination to cross that finish line at the Disney Princess Half Marathon*.

*Team Evie already has a group on Facebook to keep people up to date on my progress, fund raising (my personal goal is $5,500K), and information on how you too can help us in our quest to cure Rett Syndrome by joining team GP2C at the Disney Princess Half Marathon in 2015! You don't have to run to help make a difference.

Disney Princess Half Marathon & GP2C

Princess Rae

Several years ago, I lost A LOT of weight. After I lost the majority of my excess weight, I started dreaming that I was a runner. I could hear my feet pounding the pavement beneath them. I could feel my hair swishing back and forth brushing my neck. I could smell the salty marsh mingling with the fresh air while rhythmically breathing in and out (I have very vivid dreams). I woke up inspired! I bought appropriate running attire & good running shoes. I loaded up my iPod with upbeat music to push me further during each run. I was ready!

Then I twisted my ankle. It took FOREVER to heal. When it finally started to get better I twisted it again (guess I'm a klutz). My running was abruptly halted. Years went by and my running shoes became lawn mowing shoes. My shorts became clothes I wore to clean the house. My iPod sits on a shelf in my office collecting dust. At 27, I learned that I have arthritis in both of my knees, my lower spine, and my hips. Combine this with bone loss and none of my doctors advise that I take up running ever again. It will wreak havoc on my joints. I can briskly walk, ride a bike, or swim.

Now at the age of 32, the desire to run again (against doctor advisement) started bubbling up once more. I feel that even with my various ailments they are nothing compared to what my daughter is living with on a daily basis. Rae might never walk, much less run. The least I could do (or try to do) is run for her. My biggest risk is causing more damage to my joints which could complicate my ability to care for her physical needs long run.

This is where our heroine (yes, that is what you are) comes into the picture. Ria, my sister by choice and in Christ, has offered to run for Rae...for both of us really. I feel so blessed to have her and her family in our lives and so thankful that she is willing put effort into training to run for Rae.

Ria & Family

Ria has already registered with Disney Princess Half Marathon and with GP2C. Her goal is $750, but I think we can do better than $750. Correction, I know we can do better than $750!! My goal is $1000. All donations MUST be in before Feb 1st. This is for a great cause and every penny counts. The runners are raising money to help find a cure for Rett Syndrome. Please help us by helping them!

Here's the link to her donation page:

Ria's GP2C Disney Princess Half Marathon Donation Page