When Enough is Enough

When is enough enough? I don't mean throwing in the towel and not making sure things are properly addressed. I mean when do you stop trying to force your child into a mold that they just don't fit into. When do you stop trying to make their legs straight or their hands open? When do you stop focusing so much attention on their developmental progress and shift to maintaining where they are and making sure they know happiness and contentment? When does it become more about quality of life over quantity?

Most people don't have to deal with these decisions regarding their children. They mostly speak about quality of life when discussing their parents as they age or grandparents. In my world that is not the case. We have to face these decisions at times least expected. Evie is only thirteen and I am already mulling these questions over in my mind. Struggling to find the answers. Researching the options. Talking to seasoned parents to find out when they reached that point and what advice they may have for me. 

Their advice, "It's different for everyone and you'll know when its time to reassess." 

At first, that doesn't seem like the most helpful advice, but it truly is. They are telling me that it is okay to have these questions and doubts about the direction her care and life are going. They are encouraging me to dig deep and really decide what is in her and MY best interest. Which may sound selfish to some, but we are in this together and I am just as affected as she is when it comes to her care. They have given me permission to consider myself in the equation. And that is ok. That should be the norm in our world.

We sacrifice much of ourselves to parent our children. We stretch beyond anything imaginable and adapt to circumstances we never imagined. We rise up to meet the day not knowing what it will bring and knowing at the same time it could be the end of life as we know it. We live in a constant state of trauma and crisis. All the while putting a smile on our face, calming our own fears, swallowing our worries, and desperately hoping those feelings don't cross over to our children who rely on us for stability and strength.

I'm here to say, if you are beginning to have second thoughts about all the "extras" you feel you have to do, maybe, just maybe, it is time to take a step back and hit the pause button. Reevaluate what your goals are and whether the actives you pursue are adding or subtracting for what is best for YOUR child. It is ok to hit pause. Discuss the options and slowly add in what makes sense for your family and specifically for you and  your child. 

You owe no one else an explanation for your decisions. Not one single person. I've often said that when Evie is able to talk with me about the things I have given permission to be done to her body I better be able to justify every single scar, every test, every decision. She is the only one I have to answer to and one day I hope to hear her thoughts on my decisions. Until then, I will continue to make the best decision I can based on what I know and see right in front of me. 

I am deciding to hit the pause button, dial things back, and rediscover the joy that life offers to both of us.

Up, In, Out, Down

It’s late. The sun has long set and Evie has surrendered to sleep. Her body is the most pliable when she is asleep. She doesn’t fight me as hard when I work with her legs. After years of sitting, her knees have become stiff, not too bad though. I’ve seen much worse. It makes it difficult to get an accurate measurement of her length. I start working her legs a little bit doing some of the movements I have done during my gym classes. I guess I hope it will loosen the tightness. It probably won’t. But I try anyway.

Up, in, out, down.

Over and over. Smooth and slow measured movements. It’s quiet. I’m left to my thoughts while my hands manipulate her legs. I realized I’m living a comedy routine once aired on Amy Schumer’s show years ago. It was a bit about not really wanting to work out and if you were rich enough you could just pay someone to move your body for you. People laughed in amusement. In this moment, it is not as amusing as I may have thought 9 years ago. I must help my daughter move her body. Everyday. We attend therapy where other people help her move her body. When she is in school, her teachers, aides, and therapists help her move her body. If we don’t, muscles grow weaker, they shrink, they tighten, they hurt, and skills we fight hard to maintain slip away.

Up, in, out, down.

A pang of sadness washes over me as I move her legs. What would these legs have done if not for Rett? Run up and down a soccer field? Help her twirl in a ballet recital? Propel her onto the pommel horse at gymnastics. How many scraped knees would I have kissed and bandaged by now? Would she have used those legs to steal a base during a ballgame? Climbed the spiraling steps of a lighthouse? Will they stay strong as she ages? Will they ever be strong enough for her to stand? Take a step?

Up, in, out, down.

First the left, then the right. Moving her legs to the soft sound of her even breathing. I finish exercising her, start her tube feed, and tuck her in bed. She stirs a little, but her eyes never open. She is completely calm and unnaturally still. Sleep is where she finds the most peace and where I find myself the most restless. The morning brings another day of helping her move and live the best life we can offer her.

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