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

There and Back Again: The Last Stage

The evening before the biopsy we stayed at my brother's condo in downtown Atlanta. In all the years we have been traveling through Atlanta, we have never actually been downtown (except once when Mom and I got off on the wrong exit...Eek!...this was before Garmin's). His condo was right by the Georgia Aquarium, Centennial Olympic Park, and the World of Coca-Cola (we did not go to a single one of these). Since it was after Thanksgiving, the park was twinkling with Christmas decorations. It was breathtaking (so cliche right?) when seen from fourteen stories up. The skyline was beautiful and I couldn't resist taking pictures (just playing around) off of his balcony.

Since we had to be at the surgical center at 7:30 (and we still had to find something to eat before we arrived), we decided to get up around 4:30am and leave by 6 (at the latest). Our butts were dragging! First on the agenda: find the surgical center (check). Second: Find food! (Houston, we have a problem!) I was warned before hand that there was no cafe or anything at this surgical center; however, we could bring food with us. I thought finding something would be easy...boy was I wrong! Everything probably would have gone smoother if it wasn't for two itty-bitty problems...I am a stress eater and Jacob is a stress smoker (he is only allowed to smoke in his car). So, with Rae passed out in her car seat, I searched for fast food joints near the surgical center using "Around Me" (that was a nightmare...never again I tell ya! I'm sticking with Urban Spoon!) while Jacob listened to the Garmin.

Rae with Aunt Angie.

It took us forever to find a fast food place that was open for breakfast (oddly enough Arby's was open...didn't know they served breakfast). After much debate, gnashing of teeth, several exchanges of sharp words, we finally stumbled upon Einstein Bros Bagels! I was stoked and hopped out to get some much needed munchies. I skipped back to the van clutching a bag containing a sausage, egg & cheese bagel and a blueberry scone (later, I was sadly disappointed in the sammie...but found comfort in the tasty scone). Jacob didn't want anything (I bought him something anyway...just in case). Now we were prepared. We knew where we were going and I had stress relief in a bag...let's do this!

I'm not going to bore you with the check-in process (we've all been there). Just know, I paid my agreed upon price and went about my merry way (after making "arrangements" for the balance).

It always feels like time slows to a crawl whenever something stressful is happening. Every tick of the second hand loudly reverberates...Tick...Tick...Tick. We met the anesthesiologist (the one that had to get paid). We met a few nurses, watched a few cartoons, and I softly told Evie her favorite story (I Like Myself). She fell asleep in my arms. When they came to take her into the back and prep her for surgery (basically poke her with needles and knock her out), I didn't want to let her go. It was so hard to let her go. But, we had to...so we did. We watched the nurse carry her down the hall and out of our sight.

If I thought time moved slowly before they took her back it was nothing compared to its molasses like movement during the procedure. We were both restless. I almost immediately started eating my disappointing sandwich and Jacob dashed outside (he would not leave her). I played with Rae's iPad, flipped through a magazine, sent a few text messages, but nothing kept me occupied for long. Every time the double doors swung open I nearly leapt out of the chair from hope and fright (this continued for a couple of hours). The nurses kept us updated and when the procedure was over the surgeon came out to give us a stellar report. Everything went fine, but she's having some difficulty coming out of the anesthesia (not a surprise...that was a major concern for me). Eventually, the doors swung open and it was our baby girl, still asleep, breathing, bundled up, and wearing an oxygen mask.

Kisses from Daddy.

My nerves were still not assuaged. I wanted to crawl onto the bed with her. Cradle her. Hold her to my chest and feel her breathing. None of this was possible. The bed was too small and she was still hooked up to a couple of machines. The closest I could come to achieving my hearts desire (at that moment) was to sit on the end of the skinny hospital bed. I gladly did just that. I rubbed her feet. Spoke to her. Touched her hair. Inspected her new boo-boo's and waited (...more waiting...). It felt like decades had passed before her long lashes started to flutter. She was finally waking up! It was over! We made if over this hurdle! Now we do some more waiting...

Rae (post-op) and Xavier watching Mickey Mouse Clubhouse.
I dont' think he was thrilled that she confiscated his TV.

*This is the fourth and final installment of "There and Back Again." Click: One, Two, or Three to read the previous posts or to see the incision from her muscle biopsy click here. Even though we are still waiting to for the biopsy results, I feel that this is the best conclusion to our trip to Atlanta. The results will be their own story for a later time. Thank you for taking the time to read about our journey.

There and Back Again: A Warm Welcome

Rae & Xavier

When we arrived to my Aunt Sue's home we were greeted with warm embraces and homemade soup (there's nothing like the loving embrace of family during stressful times...soup's not too bad either). I was still stumbling through the mental fog that drifted in just days before we left for Atlanta and my distracted conversation/listening was forgiven (they all knew my mind was elsewhere). Rae was entertained by her cousin Xavier and he was thrilled to have a "captive" audience. After dinner and some catching up I passed out (sitting up) on the couch and apparently kept assuring them I wasn't asleep (I talk in my sleep from time to time). It took a little convincing, but I finally went to bed.

In the morning, we fell into our usual routine...wake up, give Rae her medicine and a bottle, change her diaper, turn on Curious George, and make breakfast. Nothing outside of the realm of normal. Once that was completed we readied ourselves for our first (and only) visit with Dr. Shoffner. Armed with plenty of diapers, snacks & bottles, toys, Rae's iPad, the Big Book of Boo Boo's, and Aunt Sue's Garmin we boldly ventured out into the wilds of Atlanta.

*Tangent Warning*

I HATE Garmin's! (actually all GPS systems) I know there are many of you out there that swear by them, but I do not! It drives me bonkers having some disembodied voice barking directions, sometimes way before you need them, out of thin air. I also find them to be confusing and the dang thing had us so twisted around that we actually circled Dr. Shoffner's office before it told us to turn onto the correct street! Not to mention that the driver is constantly checking the Garmin to make sure they are in the proper lane which means they are not watching the road! Just give me an Atlas and I'm good to go.

I HATE GARMINS!!! 

*Tangent Over*

Colorful glass artwork on 1st floor.

Upon our arrival at Dr. Shoffner's office, we were greeted by name at the front desk (guess they don't get many patients on a daily basis). We waited no more than 3 minutes before Dr. Shoffner welcomed us and we followed him back to the exam room. I felt horribly intimidated to be in this man's office and know that his intelligence far exceeds my own (yes, I know he puts his pants on just like everyone else, but seriously...he is the leading expert in mitochondrial disease). I can only imagine that Dorothy felt the same way when she first met the Wizard. Once we became acquainted with each other my mind, almost instantly, went blank. This is not a new phenomenon. In fact, it happens quite often and usually whenever I am not alone at a doctor's appointment. My mind becomes fixated with some small detail: a random test result, Rae being a busy body, or the doctor's appearance. In this case it was all of the above.

Dr. Shoffner was pleasant and unassuming. I half expected him to be wearing a lab coat, but alas I was disappointed. He was wearing exquisite leather ankle boots, slim black corduroy pants, a fitted black blazer (not a suit coat), a purple collared shirt with coordinating tie, and a black sweater...with holes (Huh? Holes? Really?). Yup...holes...intentional holes, with finished edges, placed randomly around the sweater. Obviously, this sweater was not something one would find at a typical department store. I had to suppress a giggle (or two...I get the urge to giggle at the most inappropriate times). The rest of my thoughts I am keeping to myself for fear of coming across even more ridiculous (I promise I do take all of this very seriously). Once I managed to push this humorous observation to the back of my mind I forced myself to pay attention (as best as I could...thank God Jacob was there).

Dr. John Shoffner
Photo Credit:
CLP: Clinical Lab Products

He went over all the previous testing (ruling out any potential significance of the gene mutation previously discovered by Baylor)...<sigh of relief>... Did a quick exam of Rae. Made a few observations. Explained what he was going to do and how long it would take for results to be sent (8 weeks). He offered us reassurance in his lab & personnel's qualifications as well as his own credentials. He was confident (they all are) and reassured us that he would do his best to find an answer (they all do). He was also very patient, soft spoken, and not at all pretentious. I was worried he would be and was very pleased to discover otherwise.

Then as we were gathering our things and preparing to leave he mentioned he looked forward to seeing us all again (wait a sec...did I hear that correctly...he wants to see us AGAIN...we were told he doesn't do follow-ups). Even though he said this in a normal tone the words loudly reverberated off the tiny exam room walls. What peaked his interest enough to want to see her again? Guess we'll have to wait 8 weeks to find out (gotta love waiting).

Day two of our journey was coming to a close...two more days to go before we were able to seek sanctuary within the walls of our home, patiently (maybe not so much) and nervously waiting for the results.

There and Back Again: A Somewhat Expected Journey

In a hole in the ground there lived a hobbit. Not a nasty, dirty, wet hole, filled with the ends of worms and an oozy smell, nor yet a dry, bare, sandy hole with nothing in it to sit down on or to eat; it was a hobbit-hole, and that means comfort.

Ok, just kidding...that's the first sentence from The Hobbit by J.R.R. Tolkien (in case you didn't know...seriously, read the book if you haven't. I'm sure the movie will be FANTASTIC, but the book is AMAZING!). I'm kind of excited about going to see it this month. Now, on with the real story.

Downtown Atlanta, GA

By now, most of you have heard that we went on a little trip to Atlanta, GA at the end of November. My first post regarding the trip was more emotionally driven since we were gently asked to voluntarily sterilize ourselves (I'm moving past that now). Here's how our somewhat expected journey began...

The process of having a muscle biopsy scheduled for Rae began on her birthday (Happy Birthday! You get to have surgery! Such an awesome present...did I mention she also got AFO's for her birthday?) I was given all the contact information (more like send them an email they'll get back with you) for Dr. Shoffner and his team at Medical Neurogenetics in Atlanta, GA. It didn't take long before I heard back from a member of his staff who sent me a link to a special encrypted email box and a ton of paperwork to fill out (sigh...more paperwork detailing our genetic gumbo and everything Rae).

Once the paperwork was submitted, we were ready to begin the scheduling process. The first appointment offered was quickly taken...by someone else...ARGH! I just learned a valuable lesson...when you get this high in the "specialist" world, take the first appointment and make everything else work around it. The next email they sent offered me an appointment during Thanksgiving week . I immediately took it and then prayed that even though it was a holiday week we would be able to make it work. Nope! There were no surgeons available to perform the biopsy during that week...can we make it to Atlanta the following week? I again replied with an enthusiastic, "YES, we'll take it!" (I really wanted to get this whole thing behind us.) I then made it known that should a cancellation occur (haha, yeah right) that I would be more than happy to bump up our trip....that so didn't happen. I have to give props though. While it was a tad frustrating trying to pull this together via email, the staff at Dr. Shoffner's office were on the ball, always courteous & helpful, and responded quickly (I hovered over my computer for weeks waiting for encrypted emails).

Now we found ourselves in another period of waiting...followed by even more waiting...oh and did I mention praying? We did ALOT of that too. Rae could not get sick before her appointment! She couldn't have multi-vitamins two weeks prior or any pain medications that would thin her blood (I called to verify that it was okay for her to have her anti-seizure meds the day of her procedure). No fevers, no sniffles, no nothing...period. Of course she managed to get a double ear infection (her first)! Eek! Fortunately, we were able to get that nipped in the bud about a week prior to our appointments.

We did not sit idle while we waited. I called our insurance company (repeatedly) to verify coverage for Dr. Shoffner and the surgical center. I emailed Medical Neurogenetics and requested they get a voluntary pre-certification for the procedure and lab work (all clear...maybe...insurance companies like to add disclaimers). We scheduled & completed a modified barium swallow test and then started the process of setting up our newest therapy. I scheduled our evaluation with the children's rehab center for the same morning we were scheduled to leave for Atlanta and our first official appointment for the Tuesday following our return (I don't let grass grow under my feet...for long). In between all of this, we had two birthday parties, Halloween, a Pre-Thanksgiving Day Dinner (we host that one), Thanksgiving (we hosted that too, but on a much smaller scale), and miscellaneous doctor appointments (whee!).

The week we were to leave, I made sure we had beds to fall into while we were in Atlanta (I have an Aunt (and family) and a brother that live there), printed up directions (with maps), verified appointments, and pre-paid copays (that was a first). I made a (mental) list, gathered piles of "stuff" we had to take, and borrowed my parents van. In the early morning light on November 27th, I locked the door to our home and then I realized I forgot to give our cats fresh water and food (Oops! I was bound to forget something). To say I was nervous seems like an understatement.

The further we moved away from the "planning" stages of our journey, the closer we came to actually going. I wasn't sleeping well. I became a tad edgy. My mind seemed to wander off into a haze of "what ifs;" which, I would try to beat back into my sub-conscience...sometimes successfully (other times not so much) and it wasn't until Rae woke from her anesthesia induced stupor that my faculties finally began to return. Those two months just seemed to slip through my fingers and it was only the beginning...