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 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.

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

"D" Day: One Year Later

A year ago, we started laying the foundation of a new life. A life we were not prepared to live. A life consumed by Rett Syndrome. At first glance, I didn't believe the diagnosis of Rett was so bad. You see, for the two years prior to this day we were searching for an answer to our daughters developmental delays and physical ailments. Along the way, I became friends with other parents (my Hypotonic Warriors) searching for an answer just like we were. Some of those answers came in the form of Spinal Muscular Atrophy Type I (to name one…you can read about Connor and his family at Struggles Of An SMA Family) for which there is no cure and life expectancy is very short (10% chance they will live past 2). I cried with them. And I feared our own mystery diagnosis just a bit more. I never knew there were so many syndromes and diseases out there beyond the ones we have all heard of like Cerebral Palsy, Down Syndrome, and Autism. It has been a real eye opener followed by a squirt of lemon juice.

The morning the report arrived, (via email) I was relaxed and enjoying a cup of coffee. Evie's dad said he received a notice from Medical Neurogenetics that we had a message. I was no longer relaxed. I leapt from my chair and ran to my computer to log into my encrypted account. I read quickly scanned the report (most of which I didn't understand…it was medical gobbley goop) that said Evie had Rett Syndrome it didn't sound so bad. I was hopeful. I am still hopeful. But my rose color glasses quickly shattered. Rett has many layers that overlap one another and create compound complications with no easy solutions. I have lost count of all the things Rett has stolen from us as a family and Evie as a person. It is a long list. A lot of dreams and hopes were mourned during the last twelve months. The grieving is not over. There will be more. But I try not to bog you, my readers, down with all the dirty depressing details. I'm fairly certain you can fill in some of those blanks on your own.

So, as I sit here reflecting on the last year and trying to piece together my own feelings (way to many to manage at once) I am going to force myself to tell you about the great things that have developed since "D" DAY.

1. I became a part of a wonderful supportive family, my Rett family, that is always willing to help me when I have a question or a concern. Sometimes just being an active member of an online support group will answer more questions than I can even come up with on my own. We're all just trying to make the best of a pretty nasty diagnosis. Advocating for our girls (and boys), learning to be their voice, giving them the opportunity to have a voice (via eye gaze communication systems), researching new therapies, adapting toys, creating equipment, making our own solutions to problems most retail stores don't even address, cheering each other on when we think we can't take anymore, grieving with a family when another silent angel gains her wings, celebrating each victory… I could just keep going here.

2. I became involved with Girl Power 2 Cure (GP2C). I met Ingrid (and many other members), whose energy never ceases to amaze me, and whenever I spend even a hour with her I come away feeling hopeful, refreshed, and ready to tackle Rett Syndrome. I consider myself very fortunate to live just an hour away from their volunteer center and will be making my way there in the beginning of February to help prepare for the Disney Princess Half Marathon (if you would like to make a donation to Team Maria click here). This organization has a passion for a cure to Rett Syndrome, for our girls, and for their families. GP2C just launched Rett U, which is an online learning platform for educators, therapists, physicians, and families of girls with Rett Syndrome. It is designed to help them learn, "how to support their students with Rett Syndrome and push them to their highest levels of academic, physical and personal achievement." To me it is revolutionary and a game changer. Watch this organization because they are doing BIG things and I'm glad to be a part of them!

Awareness, research, hope, and a cure!

It is possible!! We believe!!!

3. Evie received her wheelchair and we've almost finished building her wheelchair ramp on our home. That has been a work in progress for about six months now (nine if you count all the fund raising) and we're getting close to the finish line. We could not have accomplished this monumental task without the help of my parents, our family, our friends, co-workers, our neighbor, and my parents church family at Gardenview Baptist. I felt so blessed by those that have come to our home on their days off to help and to those that donated items and helped work  our massive garage sale (we're doing it again this spring so time to clean out your attics, closets, and garages). I have been so overwhelmed by the support and generosity that I've cried.

4. We said goodbye to our Early Intervention therapist and then said hello to our new team of therapists and teachers at Evie schools (which I never wrote about). I was so nervous when we first started the process to move her into the school system and it went so smoothly. That may not always be the case in future years, but it was a great first time experience with creating an individual education plan (IEP). We have her enrolled in a classroom that is a certified MOVE International site. During her first week of school we got to see  her stand upright and it was…there are really no words to adequately describe how it felt seeing her standing (she had assistance, but so what). Three months later and she is taking strong steps with her right foot, sitting up straighter, babbling more, and is blossoming. I can't wait to see her bloom!

5. I submitted Evie for a runner through I Run 4 and we were matched with Shana. She is a chiropractor in Knoxville, TN (KnoxvilleSpine.com) and it has been wonderful getting to know her. The relationship is one of support, encouragement, and inspiration. I Run 4 matches special needs children and adults with runners (but not limited to) to help give them inspiration to continue running. Many families and runners develop close bonds with each other and if you would like to be matched, you can submit your request here.

6. I started boxing. After 3 years of lifting, carrying, and supporting Evie physically I ended up with multiple micro tears in my muscles (mainly upper body). It was constant pain and I was supposed to "take it easy" (haha!) until it healed. I've known for at least a year that the physical demands placed on me would increase and I needed to strengthen my body. I'm not a Zumba girl (I have no rhythm) and I'm not supposed to run (bad knees). I also needed some kind of outlet for all the anger. I'm pretty angry sometimes… Angry at Rett (among other things). I used to take a hammer to our dilapidated fence, but it wasn't enough. A friend has an all women's boxing gym called Boxing Bunnies. I started going twice a week last month. It's a perfect fit for me. I'm already feeling a difference in my knees when I have to squat to pick up Evie's wheelchair (all 64 pounds!). I'm still angry, but twice a week I get to direct that anger at a punching bag or wrecking ball. Maybe running will be placed back on the table in a few months.

7. Our oldest cat, Moo-Shu, has finally taken a liking to Evie! Over three years she went from keeping a safe distance to allowing Evie to fall onto her and not move.

I have so much more I'd love to share, but I have to stop at some point otherwise you'd be reading a novel and not a blog post. I'm actively trying to take better care of myself. Evie is making great progress at school. We have a wonderful Rett family to lean on in times of need. I'm inspired by GP2C's determination and hope. Evie has become an inspiration for others. We have been blessed beyond measure and I constantly remind myself of that. This last year has flown by and creeped by at the same time. I wonder what the next year holds for us. Oh, and I still have that Louisville Slugger ready to swing!

Rett Awareness Month

Today marks the beginning of Rett Syndrome Awareness Month. It is our first. One of the new milestone in our lives. Until this year, the month of October was reserved for breast cancer awareness (for me at least I know many groups use October for awareness) and pink everything. I would go to Panera's several times during the month for a deliciously sweet cherry pink ribbon bagel and maybe go on one of the many charity walks. I had no real connection to breast cancer outside of the fact that I am a woman, which honestly is enough, but this year it is different. VERY different. I now have a cause to truly rally around. Something so close to my heart that it has become a part of me body and soul. I can only imagine this is how others with a cause feel. But calling it a cause isn't really enough. It is more like a quest. A quest that will only end when a cure is found.

Here's some quick facts about Rett Syndrome from GP2C:

• Debilitating neurological (movement) disorder that predominantly affects females.
• Baby girls are born "normal" but begin to lose acquired skills between the ages of 1-3 years old. 
• Caused by a single gene mutation that leads to underproduction of an important brain protein.
• The most severe form of autism.
• The leading genetic cause of severe impairment in girls - most cannot speak, walk or use their hands.
• Despite their physical disabilities, girls with Rett Syndrome are believed to be functioning mentally at a much higher level than previously thought.
• As prevalent as Cystic Fibrosis, ALS and Huntington's.
• Another little girl is born with Rett Syndrome every 90 minutes.
• Rett Syndrome is a potentially REVERSIBLE disorder. Research has proven once protein levels are back to normal levels, symptoms subside.

There is hope! Researchers are diligently working towards finding a cure for Rett Syndrome and believe their work will further research for other syndromes and diseases like Autism, bipolar disorder, and Alzheimer's (to name a few). You can help by supporting a Rett family (really any family with a special needs family member). Here's how...

Volunteer:

Think small. Yes, you read that right...small. The BIG stuff can be intimidating, so just think of small things you, your family, your church, your school, your company (just about anyone or any organization) can do. Here are a few ideas from the 20 Simple Things List:

• Simply smile and say hello. I love it when people smile at me and speak to Rae (especially kids)!
• Help a family out by offering to assist them with yard work, cleaning their house, or making them dinner. These things often get tossed onto the back burner.
• Invite a family with a special needs child to a function. Offer to help with the child so the parents can talk and enjoy their time. Many families do not get out much because it can be very difficult to manage all by themselves.

Host an Event: 

• Plant a Garden of Hope: In exchange for a $1 donation you can sign your name on a beautiful flower. 
• Dress Up 2 Cure: Who doesn't LOVE playing dress up??? Students can dress silly for one day and bring spare change to donate towards a cure for Rett Syndrome.
• Rockin' for Rett: It's a fun time for all! Crank up the music featuring local bands, local businesses, and fun, Fun, FUN!

Help Spread Awareness:

• 31 Tweets/Posts for Rett Syndrome. Go to the GP2C blog for samples of tweets and postings to help spread awareness.
• Hang a GP2C banner up. (to purchase click here) 
  
• Rock a GP2C shirt! You'd be surprised how many people ask me about Rett when they see my shirt. (to look at merchandise and purchase click here)

Aunt J rocking her GP2C shirt at school!

Raising awareness is that easy!

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

One Cure = Innumerable Miracles

Since we received an official diagnosis for Rae (and many months prior), I was often told by a family members and friends that God was in the business of miracles. I can remember hearing this same phrase being spoken from the pulpit when I was growing up. I also remember thinking that while God was in the miracle business, what makes any one person's struggle more miracle worthy than another's. This thought has never left me.

The last few months (since my own personal "D" day) I have been struggling. I struggle to cope with the enormity of the situation before us. I struggle to maintain my friendships. I struggle to understand all the medical gobbledygook that is spoken by the gaggle of doctors and therapists we see on an almost weekly basis. I struggle to carve out any time for myself and find my mind is often stuck on shuffle mode jumping from one thought to another. I struggle in my understanding of all things insurance related and often take my frustration at the greatly despised red tape out on unsuspecting customer service reps who utter the phrase, "I understand your frustration." (I seriously doubt it) I stuggle. We all struggle. It is part of life. (Yes, I say this to myself often)

One sunny afternoon, while Rae napped in her Mimi's bedroom, I wept at the kitchen table. Sobs racked my body. My voice became raspy. My eyes red and burning from the tears. My mother sat across from me...struggling. She has always offered me her ear, her shoulder, her wisdom, and a soft place to land. But this time was different...at least for me it was. There were no words that would soothe the sting. I confessed things to her. Thoughts that have been building up over the last couple of months fell all over themselves to be spoken aloud. That is when I confessed that I didn't want a miracle for Rae.

As soon as I spoke it, I felt guilty. In my mind I saw a miracle, wrapped up in pretty paper with a giant bow, a miracle that God had prepared just for Rae and I was shoving back to Him across the table firmly telling Him, "NO!" I was willing to turn down a miracle and sentence my daughter to a life of constant struggle. I felt horrible! In that moment I felt like I could possibly be the worst mother ever. But I just couldn't accept something (not that is was being offered...I am not delusional...God nor angel has offered me an instant cure for Rae) of that magnitude. Here's why...

I would want it for all the girls like Rae. We are all in the same boat (granted there are many variations, but we are all living with Rett). We all deserve the same miracle. I guess that is why so many families throw themselves into funding research for a cure. None of us want a miracle just for our own child. We want a miracle for all of our children.

For information regarding ongoing research

you can visit Rett Syndrome Research Trust.

*For clarification: If I woke tomorrow to discover that Rae was whole, no mutation, no deletions, no low muscle tone, no Rett, and called me Momma I would run around screaming at the top of my lungs about the miracle that happened during the night. I would never say no that gift.

The Diagnosis is....(drum roll).....

Rett Syndrome!

At 9am on Friday morning, we received an email (in our special encrypted inbox) and after scanning the nine pages as quickly as possible I found the official diagnosis. Rae has Rett Syndrome.

What's that you ask? Well, here's what we have learned so far. Full disclosure: I'm taking this straight from the International Rett Syndrome Foundation (I'm also giving you a shorter list).

• Rett syndrome is a unique developmental disorder that is first recognized in infancy and seen almost always in girls, but can be rarely seen in boys.
• Rett syndrome has been most often misdiagnosed as autism, cerebral palsy, or non-specific developmental delay
• Rett syndrome is caused by mutations on the X chromosome on a gene called MECP2. There are more than 200 different mutations found on the MECP2 gene. Most of these mutations are found in eight different “hot spots.”
• Rett syndrome strikes all racial and ethnic groups, and occurs worldwide in 1 of every 10,000 to 23,000 female births.
• Rett syndrome is a developmental disorder. It is not a degenerative disorder.
• Rett syndrome causes problems in brain function that are responsible for cognitive, sensory, emotional, motor and autonomic function. These can include learning, speech, sensory sensations, mood, movement, breathing, cardiac function, and even chewing, swallowing, and digestion.

There's the bare bones of the matter, but there is SO MUCH more that can be said about Rett Syndrome and I've only just started scratching the surface. There are two points that hurt the most:

First, the children (primarily girls) are robbed of their ability to speak. Not just verbal communication, but also sign language. Our dreams of hearing Rae say "Mama or Dada" just got blown to smithereens.

 *KABOOM*

Her iPad will be even more important than we initially thought and we may have to look into other forms of communication that focus on her eye movement. But we have time to learn about alternative communication options as we venture further.

Second, the hope of her walking independently just became even more unlikely. Some children do learn how to walk, but it isn't unheard of for them to "forget" and then they are once again immobile. That means modifications for our home that I was thinking about a month ago (against the advice of friends and family) are going to be needed. This includes: a wheelchair ramp (front and back porch), a new bathroom that is wheelchair accessible, modifications to our kitchen, and just about anything else we can think of that will make her (and our) life easier.

Since finding out her official diagnosis, I've already made contact with three support groups, one foundation, and another charity (see links below). During my conversation with the family support coordinator (Paige) at IRSF, she informed me that they just opened a Rett Clinic in my city!! I was so stoked and felt kind of blessed in an odd way. We have a direct link to support and there must be enough families in my local area to warrant a clinic. We are not alone!!! Amen!!!

Here's the biggest blessing in disguise. We're in the middle. We seem to always live in the middle. She was not diagnosed with something that came with a projected life expectancy (my biggest fear and frequent prayer...my heart aches for those families living with that reality...Two Lil' Fighters are Connor and Ellie!). She also was not given a diagnosis that came with a cure (best case scenario). So, here we are...in the middle...and you know what we can live with that.

Now, I'm sure the emotional swings will come and go and right now I feel like I am in a good place, but who knows how I'll feel tomorrow. But right now...I feel like I can take on the world! Hand us some Louisville Sluggers because baby girl,

"We got this!"

*For more information about Rett Syndrome please see the links below:

International Rett Syndrome Foundation (IRSF)
Girl Power 2 Cure
The Everything Rett Site