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

When You're a Special Needs Mom Who Had Special Needs

I am exhausted.

I say this throughout the day because there is no other way to explain how I feel and even that doesn't do it any justice. Most will think that my exhaustion is related to my busy schedule and physical demands placed on me by Evie. Yes, that is part of it, but there is so much more going on. My body has been attacking me since the birth of my daughter (2010). When I need it the most, it is in a state of rebellion and each battle destroys a little bit more of my defenses.

First, it was my thyroid. No matter what test was administered it always showed that it was functioning perfectly. But it was also growing. A lot. Like two and a half times normal size for a total weight of 75 grams when they removed it. I almost lost my voice. It has taken years for my vocal chords to recover and even now they are not at full strength. That is what hurt the most. My ability to sing songs to my daughter ceased to be because it hurt. So I hummed. Not the same though.

Losing my thyroid required that I start a daily regimen of synthetic thyroid hormone pills. Great! I'll die if I don't have them. Awesome! Who doesn't love being bound to medication for the rest of your life. But I take them. Then the exhaustion set in. Falling asleep at a stop light is not my idea of optimal balance.  It took over a year of constantly saying I still didn't feel right and was too tired before anyone actually listened. My first doctor suggested my extreme fatigue was due to our special needs life. Um...No. That is not an acceptable answer. I found a new doctor. A change in medication (from synthetic to a natural desiccated thyroid) and I started to feel better for a quite awhile. And then I didn't. (seriously, it all becomes a blur)

The fatigue returned. My body just felt weak and tired all the time. I started feeling heart flutters/palpitations. My limbs felt heavy after 20 minutes of exercise. Just everyday simple tasks would leave me out of breath. I thought my thyroid medication was not longer working. I repeatedly mentioned it to my doctor and nothing changed. No additional tests were ordered. I carried on.

The fatigue really started being a problem again after I underwent emergency surgery in 2015. Afterwards, a post op infection basically placed me on bed rest for 4-6 week which was interesting to manage and could not have been done without help from my family and Evie's teachers.

Many parents will tell you that they will lose track of their own health needs because they are overwhelmed by the needs of their child(ren). I was no different. I'm so over going to doctors with Evie that I just don't have the energy to do for myself. I also know that when I go they will want to do something (tests) or send me somewhere else (specialist or therapy) and I seriously don't have time for all that. So, this mystery condition just went unchecked despite my bi-annual appointments with my endocrinologist.

I finally decided I needed to find out what was wrong. I thought I was going to have a freaking heart attack or something. I made an appointment for a physical with my primary care. I gave my blood. They ran their tests. Then I was told I am anemic (iron deficiency anemia). Not just a little. A lot. I have to take iron pills every day and more blood work is in my near future. Lots and lots of blood work.

But I wasn't going to cave into this new condition. I told my doctor I am training for a half marathon and would I be able to run. She said it would be best if I didn't until we determined what was causing my anemia and my levels were back up. Naturally, I ignored her. I am SUPERWOMAN! A little low iron (14...should be about 40 at its lowest) and low red blood count (8.1...should be between 12-15) wasn't going to stop me. Did I mention I'm stubborn and hardheaded?

I completed a 5k while pushing 80+ pounds (Evie and a jogging stroller). The course included a bridge and a 5 or 6 story spiral ramp. (I don't run the entire course. I do intervals of walk/run.) I couldn't breath after I crossed the finish line. I was gasping for air like a fish out of water. I am NOT superwoman. I am a special needs mom who now has special needs of her own. I don't know what this may mean for us in the long run. My body's betrayal has wounded me. When I need my body the most and my life demands more from it than ever before, it has decided to fail me. Repeatedly.

Admitting that I can no longer keep up the pace I have been forcing myself to live is difficult. I may have to drop out of my half marathon. I may have to start taking naps more frequently. I may have to get transfusions. It is not just as simple as eating more spinach and popping an iron pill. If only (sigh). What I do know is I may not be superwoman, but I am going to continue living like I am and not let these physical setbacks stop me from being the best I am able to be. Right after I take a quick nap.

Growing a Girl Scout...Get Your Cookies Here!

Evie is officially a Daisy. We joined a local Girl Scout troop that her best friend is a member of and it has brought another layer of chaos to our schedule, but it has also brought her another social outlet with peers her age. At our last meeting the girls learned what makes Evie laugh (coughs and sneezes) and enjoyed making her giggle at their antics (it sounded like everyone had a cold). It's a good thing.

She is selling cookies, attending meetings, and this weekend she will be a part of her first Girl Scout activity, "Let's Grow" World Thinking Day. We will be exploring tables set up by other local troops and each one will feature a different country. Our troop will be sharing information about France and making crepes (I'm in charge of whipped cream).

Would it be easier to keep her home? Sure. But what fun is that. We are committed to helping her live a full life complete with enriching experiences and exciting adventures. I don't think I would have considered signing her up a year ago, but after one night with a troop and a little encouragement from a friend we jumped in. There are many obstacles to overcome for both of us (what's new) and we will troubleshoot them as they come. She can definitely go camping, but white water rafting is off the table (maybe a canoe...we'll see).

The Girl Scouts welcome ALL girls. That includes Evie and every little girl that is similar to her. It takes a little extra effort, but for us it is worth it. Now if only we can make sure she stays awake during the entire meeting.

If you'd like to help Evie reach her cookie sales goal please place your order on her site:

Evie's Cookie World

Her troop has voted to spend the night at the local zoo and learn about the animals there. Their second option will allow them to pet and feed dolphins. These are great experiences for young girls and thank you in advance for your support!