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

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!

#BentNotBroken: Curvy No More

*Disclaimer: This is a longer post then I typically write. It contains a few images that some may find upsetting. I do not feel like I can adequately share this experience with you without sharing the images. I promise they are not overly graphic.

Evie is now two weeks post-op.

It feels like we just came home yesterday and at the same time it feels like it all happened months ago. Maybe sleep deprivation does that to a person. Makes them loose all sense of time.

I want to tell you that I've been an emotional wreak. That I have wept and wailed. That anger and fear consumed me leading up to and after the surgery. But I would be lying.

I felt at peace. Sure I worried a bit. Was this the right decision? Would she forgive us for the pain that was coming? Does she understand why this was the path we (her parents) chose for her? But those were just passing worries that fled back into the darkness that is fear whenever I remembered that I have no control. This wasn't no longer in my hands. That, in truth, it has never been in my hands.

When I acknowledged that I had absolutely no control in this situation, that is when peace started to take over. While binge watching Longmire (video clip) on Netflix a character put into words how I was feeling:

"Peace is not the absence of conflict. It is the acceptance of conflict." 

I accepted that we would end up at this crossroads many years ago. We hoped and prayed that it would be when she was older, but with each x-ray that hope dimmed a little more. So this was the path we chose to take and we have no regrets. The acceptance of this inevitability, the acknowledgement that it was not in my hands, the knowledge of whose hands it was in, and my mad research skills came together and peace blossomed from the inside out.

Now let me get down to the nitty-gritty stuff...

We checked into Wolfson's the night before her surgery. It looked like we were moving in and essentially we were since we were there for 8 days. The PICU team came in to get Evie's IV's placed (this took longer than anticipated) and they had to get at least two that night (a third would be placed the next morning). She smiled and giggled the entire time! When it comes to the traumatic stuff for kids they have people come in the room (if available) to help distract the child. It worked like a charm! *Tip: Try to make sure your child is well hydrated for easier IV placement.

The next morning we were off to pre-op to wait and for a minor buzz cut (sorta). I have a few things that I like to send with Evie when she goes into surgery (yes, we've done it often enough that we have surgical support items). Those items include: her quilt with pink and orange flowers our dear friend Leslie made for her, a crocheted lovie (they help keep her from mouthing her hands) from my mom, and her best friend Moe-Moe the monkey. I forgot to slide her superman leg warmers on before we left the room so they missed this trip (oops!). You'll see the haircut in a bit.

Bye sweetheart, we'll see you soon!

I was very fortunate to not be alone while waiting for the surgery to be completed. Of course her dad was there and so were my parents. I don't think there was anywhere else they would have been. Times of uncertainty brings our family, friends, and our Rett family together. Those we love and those that love Evie texted, called, and emailed us their encouraging words, prayers, and healing vibes (ya bunch of hippies! love ya!) My dear friend Hot Mess came to sit with us during the entire procedure! We all laughed and cracked jokes. It's how we deal with stressful events.

Dr. Eric Shirley was able to place the MAGEC growth rods in Evie's back. This is a great thing because it means lengthening procedures are controlled externally using a magnetic tool that will allow him to extend the rods as she grows (and trust me this girl grows!). The surgery went really well and we anticipated 5-6 hours, but she was done in about 4 and a half! The surgery was a success! We were able to see Evie shortly in her private PICU suite.

Ellipse Technologies: MAGEC Rod & Controller

Once she was settled and we spoke with her surgeon, we were able to see Evie. It wasn't the easiest moment. I couldn't pick her up and cradle her in my arms. I also knew that jostling her too much would hurt her. So we all settled for letting her squeeze our fingers and stroking her hair. She was still intubated when we saw her. They also brought in a portable x-ray machine to take an image of her spine. This gave us an internal visual of how drastic a change these growth rods made for our little girl. The external change was apparent immediately and we could barely believe our eyes. She was so straight and long! Heck, we were all so accustomed to seeing her curled over that seeing her straight felt like someone was playing a cruel trick on us.

Getting her x-ray done.

Before at 70 degrees
After with her spinal upgrade.

Now you may be asking yourself why Evie needed to have her hair shaved off on the sides (yes, both sides) for a back surgery. One word...Halo.

We call it the Dr. Shirley special.
I think he was inspired by Natalie Dormer from The Hunger Games.

Evie was placed in a halo for the surgery to secure her position and keep her body held as straight as possible. In order to achieve this they had to place her in traction (just for the procedure) and screws were used to hold the halo in place (four to be exact). This was not done before she left us (thank you Jesus) so I don't have a picture of what it looks like and the images I've found online aren't really right  (it wasn't gravity traction). As a result, she has two little boo-boo's on her forehead and one on each side of her head. We've made an appointment for Friday next week to have her hair style updated. Embrace the buzz cut!

The first night in PICU was filled with the beeps from various machines, nurses and assistants coming in to check vitals and administer medicine, and me never really getting comfortable. That's hospital life for ya! Our goal was to extubate Evie that evening. Well, that happened...and it wasn't pretty.

Extubation was successful and a bit painful for Evie.

Her little face was red and swollen, which I was prepared for before surgery. Hearing her soft whimper was like music to my ears. It was like hearing a newborn cry for the first time. A sense of relief flooded over me. Unfortunately, her breathing wasn't as strong as everyone would have liked and in order to maintain her oxygen levels she was placed on a bi-pap. Whee! This is obviously not what we would have wanted, but better this than intubation again. It was removed the next day for which we were all thankful and happy.

*Tip: Evie does not expel excess air the bi-pap pushes into her body. As a result, she developed excess air trapped in her intestinal tract which caused some distention of her stomach (she swelled up like a ripe watermelon). We know now she needs to be vented if she is ever on a bi-pap again, which can be done through her g-tube with her tube extension or a Farrell bag.

Once the bi-pap was off, her pain well managed, and she wasn't sleeping we managed to get a few smiles, a faint giggle from her, and a attempts at mouthing her lovie. All joyfully celebrated! These were good signs. She was also quite the social butterfly and everyday of our stay someone came to visit her (not just the nurses, therapist, and doctors). By day two the physical therapists came to get her sitting in her wheelchair. That was a three ring circus because of all the cords, tubes, and iv's stuck in her. Sheer will and determination on their part made it happen and of course I photographed it!

This is an important part of recovery.
One major benefit: It helps clear gunk from her lungs.

The last visitor during our stay in PICU was Miss. Jacksonville, Amanda Hatcher. We met her a few weekends prior to her surgery at the Tim Tebow Foundation Golf Classic at TPC Sawgrass (we had a blast!!!). Unfortunately, Evie was asleep and did not wake until a couple of hours later. She loved tugging on the balloon strings and making them bounce around. While at Wolfson's, Amanda went to visit other patients living the hospital life like us. Thank you Miss. Jacksonville!

Later that evening we were moved to our new suite. I wasted no time getting settled (we were going to be there awhile) and decorating her room for Easter. She was gifted a Easter baskets from some of the staff and one of our fellow Rett mom's that came to visit. It has taken some getting used to that the children's hospitals bring her goodies when we stay for any length of time.

We continued getting her in her wheelchair to sit up. Slowly introduced nutrition back into her system (a long grueling process). Watched a lot of Disney Jr. and discovered she really likes the movie Strange Magic (I was surprised).

More visitors came, with more goodies and lots of love for our girl. My Rett family was in full swing along with so many others. We are so thankful for their friendship, support, and visits. It really does help make the days at the hospital pass by a bit quicker.

Art with a Heart
They came and painted pictures for Evie.
She was enthralled with this particular volunteer.

Evie and her G-Boss on Easter.

Brad "BigPoppaChive" Zahn
ChiveON!

Evie and her BFF.
These two crack me up!

The wound care team came in to remove the wound vac and change her dressing. It was time for me to see her incision. Deep breath!

Not exactly what I expected, but WOW!
Now I was responsible for keeping it covered and clean.

These wonderful ladies did a great job removing the bandages.

They took their time and used this awesome spray to make it easier.

I watched this process very closely and assisted (just a bit) so I knew what I needed to do if/when I needed to change the dressing at home. Which of course I ended having to do a couple of times because of that darn liquid diet she was on. C'est la vie!

Before we knew it, we were all set to go home. The doctors signed off on our walking papers, we got our prescriptions filled from the hospital pharmacy. *Tip: Always get them filled before you leave the hospital. Just because they have the medication prescribed, doesn't mean an outside pharmacy will.

We were finally on our way home!!! A little nervous, but I was confident we'd be ok and we have been (a little sleep deprived, but its getting better every day).

Our last nurse for this stay at Wolfson's.

I promise she was in the van.

Goodbye Wolfson's Children's Hospital! Until we meet again (cause let's be honest...we'll be back). Your nurses, assistants, therapists, managers, and support staff rocked  (we really need to have a talk about your food service though...except the Jazzman Café...those ladies are AWESOME!).

Dangerous Curves Ahead

Before Evie turned one, I nearly drove myself insane because I believed she was developing a curve in her back. It was small. Tiny really. Nothing that someone who didn't regularly rub her back would even notice. But I did. I held her and rub her back every day. I just knew something wasn't right.

It was confirmed before her first birthday. She had an eight degree curve. Now I know that isn't severe and I didn't really flip out because from everything I read that was manageable. I knew progression of the curve was what we wanted to slow down. I asked about options and at eight degrees there really aren't many outside of therapy. We took a wait and see approach.

Fast forward through a few visits with her orthopedist and that tiny eight degrees did indeed progress (which I expected). Her scoliosis curve shifted from 8 (2011) to 18-20 (2012), then from 18-20 up to 40-45 (2013), and finally from 43 (2014) to 59 (2015). Now there is a margin of error to consider of 2-3 degrees up or down on that scale, but those numbers and her rather rapid progression meant that her scoliosis was not going to be manageable by bracing and therapy alone.

Life at 59 Degrees
November 2015

Every time she had a growth spurt so did her curve. Now we've gotten to the point that her hip is curling up and she can not correct herself at all. When she attempts to stand, without her brace, it doesn't take long before she is tipping to her left and falling (full disclosure: she can't stand independently at all).

In early 2015, I asked her orthopedist at what degree level do we start considering surgical intervention (TIP: never ask a question that you don't want to know the answer to) and in a very direct manner (which I appreciate) he stated fifty degrees. I breathed a slight sigh of relief because we were still sitting squarely at 43 degrees. We scheduled our next appointment for November and went home with our brace and some big things to consider (and research...my favorite thing).

November was a tough month for our family. On the day of Evie's orthopedic appointment, I ended up in the ER with three IV's stuck in my arms and nurses swarming over me. It was the first time I wasn't able to attend her appointment and I knew it was going to be the BIG one. The same gut feeling I had when she was about 9 months old was telling me that her scoliosis was worse. Surgery was going to be on the table. My baby would have one more, very long, scar to add to her growing collection (one muscle biopsy, two hip scars, and a g-tube).

The news came. I screamed (probably scared the ER personnel). The doctor tending me rushed to my side begging me to calm down (my emotions were affecting my blood pressure which was dangerously low). I pushed the phone away and refused to talk to my husband anymore (fyi: he had no idea how serious my situation was, my mom was waiting until after Evie's appointment to tell him EVERYTHING).

Surgery was officially on the table and, much to my surprise, my husband told her doctor to put her on the waitlist for a surgical date. I would have done the same. (TIP: Over the years I have learned it is better to get the appointment or be added to the waitlist and then think over all the options and necessity. You can always cancel the appointment or remove your name from the waitlist later. No harm. No foul.)

The short version of this story:

Evie is scheduled for spinal surgery at the end of March. She and I will be taking up residence at our local children's hospital the day prior to surgery and will be there for three-four nights. The procedure she will have is called MAGEC and they are growth rods (more about MAGEC coming soon).

This WAS NOT an easy decision. I spoke with many people whom I respect and researched scoliosis a second/third/fourth time (the information was still the same as it was in 2011). We know the risks. We trust our team.

I feel at peace with this decision. I have been preparing myself for this since the curve increase of 2013. I know this is out of my hands. I know who holds the future and we will persevere.

*I promise to keep the blog more current as we go through this process.

Open Your Eyes

Just open your eyes. Open your eyes and look at your mother. She's right beside you. Reassure her. Open your eyes so she knows you are still here.

*my eyes open*

Good. Now you can rest again, but only for a few seconds. Then you have to open your eyes again. Don't stop looking at her.

God I'm not ready. I have to be here. Please. I know my time hasn't come yet. Please. I have to stay for Evie. Don't make my parents bury me.

*my eyes close*

Open your eyes again.

I can't. I'm so tired. It takes too much effort.

Your mother is sitting here with you. She needs to see your eyes open. Open your eyes.

Ok.

*my eyes open*

I know she is afraid. She's calm, but I know inside she is afraid. I can see it. I'm afraid too. I start to cry. I don't want to hurt them. I can't leave. Why is this happening? Haven't I gone through enough? Haven't we gone through enough? I need to rest. There are so many people in this little room. I want to float away.

*my eyes close*

Open your eyes.

I can't. I just want to sleep.

Open your eyes. I am not asking, I am commanding you. Open your eyes.

*my eyes open*

The nurses are fussing over me. They can't get a vein for a third IV. The doctor wants to do a surgical procedure. They want to put a line into my neck. Oh dear lord, what is wrong with me?!?! I'm not supposed to be here. I'm supposed to be the healthy one. I'm the baby. The youngest. Hasn't my family lost enough? This is not how I want to be relieved of my burdens. Not yet. Please. Not yet.

*my eyes close*

Open your eyes. Look at your mother. She needs you to look at her.

I can't. Please. You don't understand. I'm so tired. I hurt. They keep poking me. It hurts so much. I feel weightless and free when my eyes are closed. Just let me be.

Open your eyes.

*my eyes open*

They are all still here. The nurses. The doctor. My mom. Either fussing over me or waiting to know what is wrong. I'm freezing cold, but burning up. I want a blanket, but they keep trying to take it away. I scribble my signature on some legal form giving consent to cut into my neck. Oh God, what is happening? I begin to cry again. The doctor rushed over telling me I need to calm down. How am I supposed to calm down when I don't know what is happening.

*my eyes close*

They tell me to turn my head to the left. I feel a plastic film cover my face and upper chest. Oh God, they're doing it. They're going to cut me. The needle presses into my tender skin to numb the area. Why does it hurt so much? I feel my tears sliding down my cheeks and a bit of panic settling in. Deep breath. Deep breath. Calm down. It's ok. You're in the ER and they won't let anything happen to you.

Open your eyes.

*my eyes open*

I search for my mothers face and she's right there beside me. She's so calm. That's what you want in an emergency situation. I know she'll have her moment later when the time is appropriate. When she doesn't have to be strong for me.

*my eyes close*

The doctor is leaning over me. I keep my eyes closed. I feel a bit of pressure on my neck. Then I feel warm liquid running down my neck. I know its my blood. The panic comes again. Deep breath. Calm down.

Open your eyes.

*my eyes open*

She's still there. I'm still here. We're going to get through this.

*my eyes close*

Holidays = Distrupted Routines

The holidays are here and we all know what that means.

Disrupted routines! AHHHHHH!!

Schools are on break, therapists go on vacation, and your daily routines are in jeopardy of being overthrown by the busyness of social gatherings, cookie baking, decorating, and shopping (of course). Typically, I work on most of those things while my daughter at school, but during the holidays and school breaks, that is no longer an option. Here are five things to help keep your routine intact (almost) and help you survive the holidays.

1. Make a list of the must do's in your routine.

I know what I can and can not get away with doing and not doing when it comes to our daily routine. I DO need give her medications to her on time. I DO need to feed her, give her fluids, and make her smile & laugh. I DO NOT necessarily have to get up at 4am to put her on her chest physical therapy (CPT) machine every morning. I DO NOT have to give her a bath on Tuesday if Wednesday will work better for us.  I DO/DO NOT need to keep every one of her appointments (it's case by case). Knowing what I can be flexible with helps me plan out our day.

2. Pinpoint where you have flexibility in your routine/day.

Structure is great. Some of us really thrive on it. Unfortunately, it drive me bonkers. I like being able to have flexibilty in my routines. By noting when I have the opportunities to be flexible, it makes it easier for me slip out for lunch with a friend or run an errand that just can't wait any longer. Yes, my daughter needs to have time in her stander/walker and she needs to continue practicing on her Tobii, but those are activities that I am able to shift as I need to (unlike her medicine).

3. Keep your expectations reasonable.

If you aren't used to having your daughter home all day, every day, then cut yourself a little slack. More often than not, you are one person trying to do the job of three or four. There is no way I can expect myself to accomplish all they do with my daughter at school in the comfort and craziness that is our home. She may use her stander one day and her walker the next and I don't need to beat myself up over it when I can't do it all. We can't always be SuperMom. Which brings me to my next point.

4. Take advantage of respite care.

Do you have respite care hours, a nurse, a trusted family member or friend willing to help? Then use them. I know that is easier said than done, but trust me, you will need some time to just take care of business (calling insurance/doctors or going to the store) or maybe just sipping a cup of coffee in the peace and quiet of your favorite shop. I can tell when I need a break and a little time to myself because I start feeling tired and grumpy. If I'm not getting that time to just unwind, it makes our routine that much harder to follow. This works best when you are honest about what you need and what you can and can not do.

5. Be honest with yourself, friends, and family about what you are able to commit to.

We've all done it before; over-committed ourselves by not being honest about our limitations. We all have limitations, and I'm laughing at myself right now because anyone can tell you I am quick to say yes when asked to help. Then, I start to realize I have bitten off more than I can chew, and back peddling just isn't my style. Now, I am making more of an effort to be honest with myself and others about what I am able to commit to and complete. It is okay to say "no" or "not right now" ; especially if the request would be difficult to work into your routine.

Bonus Tip:

6. Expect the unexpected.

The unexpected is going to happen and you'll have to make quick adjustments to your day. Most of us have already experienced those hair raising moments that completely destroy our plans. Most recently, we found ourselves in the emergency room  of the Children's Hospital of Atlanta, in Georgia (we live in Florida) because I accidentally pulled out my daughters g-tube button. I kept saying, "We were going to go to the aquarium today." and then a little cynical laugh would escape my lips. The unexpected happens: it doesn't care about your routine/schedule, and you just have to roll with it. Rest assured because you will always find a fellow Rett parent to help you through it.

Accepting the Answer Given

Do you pray?

I do.

Sorta.

Not in the Sunday School way. On my knees. Hands clasped. Head bowed. You know like Jesus when he was in the garden asking God if there was another way to our redemption that didn't involve His death. For me, it typically happens during the peaceful silence of my drive home after taking Evie to school (I drive 25 minutes one way).

I also find my prayers to be an in the moment thought. A conversation. A quick word spoken in my mind. Sometimes my words are filled joy and praise. Sometimes they are spoken in times of great fear, angst, and sorrow. On a few occasions I spoke out in anger and even yelled. Yes, I have yelled at God. I'm pretty sure He expected it. He listened anyway.

A few weeks ago, when I managed to pull myself together, I attended church. I just sat there with my hands in my lap. Trapped in my own thoughts. Not focused on the sermon. I can't even tell you where my mind drifted off to during that half hour or the subject of the sermon. I was just not there.

The message came to a close. Our pastor opened the invitational (a time for those so moved to come forward and accept Christ, seek support/prayer from the congregation, or join the church) and a man came forward. He was an older gentleman. He was seeking prayer. He was diagnosed with cancer…again. 

Members of the church rose from their seats and moved towards the alter. Each one laying their hand on the person before them. This man was cloaked in praying hands and the Holy Spirit was moving. Our pastor spoke words of healing. Claiming it. Owning it. Asking for God's will to be done.

Then the Holy Spirit touched me (more like slapped me upside the back of my head). Tears started running down my cheeks.

We pray for healing. We pray for illness to leave our bodies and make us whole. We fervently pray for a cure to our ailments and our pain.

What if the answer to our prayer can only be given through death?

I don't know why that never struck me before, but that morning it hit me hard. I pray for my daughter and all her Rett sisters. I pray for a cure. I pray for healing. I pray for a restoration of their bodies. It is a broken record that plays in my mind all day long. But...

What if her restoration will only come when she passes?

Can I accept her death as the answer to my most earnest prayers?

For a few years now I have known that we may lose Evie at a young age. My newsfeed on Facebook reminds me of this possibility on a regular basis. In fact, our Rett community lost two more girls this past week. We read those words and our hearts ache. We pray even harder. As if that were possible.

The only option I have is to keep moving forward. Keep hoping. Keeping working towards finding a cure. Keep praying. 

God will give me an answer to my prayers in His time. It may not be the one I want to hear, but it will come. He will also give me the strength and support system to survive the loss if/when it happens. I don't know how, but I'm just going to claim it now (and pray some more).

16 Rejoice always, 17 pray continually, 18 give thanks in all circumstances;

for this is God’s will for you in Christ Jesus. ~1 Thessalonians 5:16-17 (NIV)

When There Are No Words

It seems weird to write a post about there being no words, but more often than not I find that there just aren't adequate words to express my sorrows and empathy to members of our Rett community. Nothing I can think of feels right.

One of the things I have grown accustomed to since joining the ranks of thousands of special needs families is loss. The loss of dreams and hopes for our children's future (and ours). The loss of friends and family. The loss of our own identities. And worst of all…the loss of our children.

I say ours because any loss within our community touches our hearts. Shakes us up. Reminds us how quickly the tides can change against our girls. We weep. We mourn. We console the best we can from long distances. We hold onto our children just a little tighter the day we read those six words, "Another Rett Angel gained her wings." It is a harsh reminder of how cruel Rett can be and why we desperately need a cure.

I am also at a loss for words. I don't know what to say. I feel compelled to acknowledge the loss, but what words do I use?

"I'm sorry."

"You're in my prayers."

"Thinking of you and your family."

"<hugs>" (virtual hugs)

These are the only words that remotely feel acceptable. I can't fathom saying anything like, "She's in a better place now." That would just piss me off if someone said that to me. I sit at my computer, staring at the screen, trying to come up with something to say and everything just feels empty. What I want to do is embrace them. Support them. Just be there in the silence. But we are miles apart and my only option is to write this post or comment on Facebook.

Sometimes there are just no words.

Upper EnDO or EnDON'T

We're at a crossroad again. I'm standing here (actually sitting) trying to make an educated decision about how to proceed. We've hit a few rough patches this summer including:

• a battle with pneumonia (a four letter word in our home)
• a hospital stay (likely more pneumonia)
• a sleep study (moderate obstructive apnea)
• some insane sleep disruptions (full blown night terrors with screaming and tears)
• the addition of a suction machine (like the one used by your dentist)
• another mystery illness/infection that has resulted in another round of antibiotics (don't judge, you're not in our shoes)

It's time to make some more decisions and I don't feel qualified to make them, but we're the only ones that can say yes to the proposed course of action that includes:

• an Upper Endoscopy (requires anesthesia which geeks me out a bit)
• a PH Probe/Impedance (requires a hospital stay with a tube down her throat)
• another (third) Modified Barium Swallow Study (it counts as 1 of her 35 therapy visits)
• a conversation about her tonsils and adenoids (remove or not remove)

I know it doesn't sound like a lot or even very drastic, but I see what they truly are…milestones. The end of the small, easy tests with simple answers. The tide is changing. The stakes are getting higher. I had finally found my sweet spot with our day to day routines. Now I am just standing here with no idea which way to turn or what it may mean for Evie and for us if we do (or don't) pursue some of these options.

Am I more afraid of the obstructive apnea or of a surgical procedure to remove her tonsils and adenoids? (which in all likelihood the doctor will not support, but I have to ask)

Am I comfortable authorizing MORE testing, uncomfortable testing that requires sedation and a hospital stay?

What changes will we have to make to her diet if she is now aspirating food particulates like we suspect?

It is a ever changing world that we live in. I find it unsettling most days. (or at least when I allow myself to think about it)

If you ever think you're tired of your monotonous, boring, somewhat predictable life, please take a moment to be thankful for it because the alternative can be downright nasty.

Where Shopping is a Pleasure

Do you have a Publix where you live? Have you ever been to a Publix? Do you know what you are missing? Munching on their crispy chicken tenders, sipping their sweet tea, and satisfying your sweet tooth with one of their sugar cookie can become addicting. To put it simply...

We love our Publix!!!

Not just because of their food, their coupon policies, or their cleanliness. What makes Publix so incredibly AWESOME is their customer service. Their willingness to help you find something, even when you don't ask. Seriously, they see you cruising slowly down an aisle and will just offer assistance.  Is the product you're looking for not on the shelf? They will go check to see if they have more in the back (instead of saying, "I don't know" while shrugging…cough, cough…Walmart...cough, cough). 

What is best is the interaction between the employees and Evie. They always talk to her and ask how she is doing (on the rare occasion she stays home). Hands down her favorite department is the bakery (and the apron strings kiosk). She loves getting her cookie!

Save Access to AAC Devices!!!

If you are reading this, you probably have access to the internet from either a home computer/laptop, an iPad/tablet, or a smartphone. You probably have WiFi or 4G access that allows you to email your friends, family, and colleagues or post about your day onto Facebook, Twitter, or Instagram. If your internet or wireless service goes on the fritz you can probably pick up your phone and call a technician to complain.

Congratulations!!!! 

You can communicate and participate in the world around you.

***********************************************************************

Now, imagine that you do not have the ability to communicate at all. 

Zip. Zilch. Nada.

Many (if not most) individuals with disabilities/disorders like Rett Syndrome, ALS, Spinal Muscular Atrophy, spinal cord injuries (this list can go on and on) are not able to communicate verbally with the world around them. The very people that are responsible for their medical care, their meals, their clothing choices, their everything... operate on the assumption that they can decipher what someone else wants or needs. Sometimes that may be a slight smile, a tilt of the head, or a "look." But we are still just doing the best we can to pinpoint what they need/want.

My 3 year old daughter is non-verbal and sharp as a tack. We make a lot of guesses about what her needs and wants are on a daily basis. Sometimes we are right and sometimes we are very, Very, VERY wrong. We have attempted different forms of communication from low tech (picture cards) to high tech (iPad apps) and due to her limited hand control (thanks a lot Rett Syndrome) those forms have been less than successful.

Our hope was restored when we learned about a company called Tobii Technology. Tobii is the leader in eye gaze technology which allows people like Evie to communicate using their eyes. There is a lot of technical jargon that I can spout off, but basically the computer has fast cameras which track her eye movement and allow her to select words and activities. She can communicate!!! But the device cost between $17,000 and $20,000!!! OUCH! (the ability to communicate is priceless, but that still hurts)

Watch how well she is able to navigate.

This was the first time she had access to a Tobii for more than 15 minutes!

Now that very hope is being threatened with pending legislation for Medicare (their regulations quickly become industry standard) and we need your help.

The attack began in April 2014, when Medicare implemented a policy that denies patients the use of medically necessary speech generating devices (SGDs) upon admittance into a healthcare facility (hospice or nursing home). The one place that a person with complex medical concerns should be able to communicate with their caretakers, doctors, and loved ones.

On September 1, 2014, the second wave will become effective. Medicare will no longer fund a SGD that has the ability to connect to the internet. Previously, they allowed the user to "unlock" the internet feature at their own expense, but now that is not even an option. This means users will not be able to interact with anyone beyond the confines of their own room. 

NO email. NO texting. NO Internet. 

NOTHING! 

Lastly, Medicare's wait list for SGD-eligible beneficiaries who need eye gaze technology is YEARS long. Some individuals never get the chance to communicate with their loved ones or have meaningful input regarding the final stages of their lives because of this backlog. The routine denial of access to eye gaze technology is unacceptable. These people jump through all the hoops, cross all the t's and dot all the i's and still meet the brick wall that is Medicare.

Please read and sign the petition below and/or contact your local representative. Tell them that this legislation is not acceptable. Tell them that everyone has the right to communicate with the world outside of their home. Tell them that people have the right to talk to their doctors, nurses, caretakers, and loved ones. If you woke up tomorrow and could no longer speak to those around you and purposefully use your hands, wouldn't you want someone to fight for your right to have access to a speech generating device? Please help.

The deadline to sign is August 27, 2014.

GP2C: Save Access to AAC

Find your local representative:

http://www.house.gov/representatives/find/

Find your senators:

http://www.senate.gov/general/contact_information/senators_cfm.cfm