And it goes on and on and on and on....

So many wonderful friends and family have asked about the status of Emmy's 'fits' and if seeing our new neuro was helpful, so I wanted to post a little update...

We've been to see our new neurologist, Dr. Heydeman, twice now.  We feel confident that we've found THE BEST Rett Doctor Chicago has to offer.  He sat and listened, asked a lot of questions and helped us problem solve.  There is no quick fix but at least we have someone on our side who knows Rett.  I kept a careful record of the fits and tried to see if I could figure out exactly what was setting them off.  I could find no consistent pattern.  The most concerning thing is that she is unable to bring herself 'down'.  The fits escalate and she doesn't seem to be able to control it.  So, he recommended we try a pretty straight forward med to help block the adrenaline rush which in turn should help keep the fit from escalating.  It's called Propranolol which is a beta blocker.  I have the medicine in hand but have been dragging my feet a little on getting it started.  First, he wants her heart rate monitored because this med can potentionally slow heart rate.  Ummm, that makes me a little nervous since her heart rate is already completely out of whack because her autonomic system goes haywire.  Second, her school is in the middle of performing an 'assistive technology evaluation' and I am hesitant to start a new med that could have potentionally weird side effects.  I finally called out regular ped today to talk about how she'd like to go about monitoring her heart rate because it's time to give this med a try.  After a couple days of some pretty intense fits in some pretty unfortunate circumstances I have no choice.  I have completely stopped taking Emmy to any store unless I have another adult with me who can make a quick exit with her.  After the Wal-Mart explosion we had another run in, this time with an older man at a different grocery store.   I'll give you the quick version.  Emmy is crying but I have her positioned in the cart so she can't bang her head on anything.  Here I am high fiving myself because we're having what seems to the casual observer a 'normal' grocery store fit.  Nobodies hurting themselves, wooohooo!  Then an old man comes up behind me and screams at Em over my shoulder, "Now you stop that crying!"  It completely startled me and I think maybe he's just kind of being funny??  At this point I had already committed to checking out and  paying so there was no escape.  From there, let's just say there was a very unpleasant exchange of words.  No yelling, thankfully.  It ended with the check out lady and the bagger both apologizing to me for this man's behavior.  That's how bad it was.  So I am DONE which makes me sad because I feel like the list of what we're able to do together is getting smaller and smaller.

Propranolol it is.  We'll see how it goes.  If it doesn't help, we'll keep trying things until we find something that does.  Dr. Heydeman also recommended a GI specialist at Rush that he works with for Em.  We are seeing him in January.  I am just relieved to have found our go to people instead of wasting money and time with doctors who have no clue.  He also recommended a guy who hopefully is going to help us come up with some wrist/hand guards for her to wear.  We have some that our ABSOLUTELY AWESOME preschool teacher has made on her own.  Emmy's teachers are amazing...really, truly outstanding people. 

Not so great pics but all I could find with her 'wristies' on

Her teacher keeps revising her design!  She made some that were really durable and fit great but then weren't so pretty.  I was just happy to have something to protect her skin from hand mouthing and biting but...

Mrs. M thought Emmy shouldn't have to wear black and blue guards so she went out and found these pretty pinks.  She made some adjustments and they are now our go tos!!  Don't know what I would do without such wonderful people helping us along the way ; )

The Ladies

It's about 6 pm and we're waiting for Daddy to come home...





 Ava is trying to block Olivia from getting her paws on the Ipad so...

 she goes for Emmy's Ipod. 

 Emmy REACHES over with her right hand and GRABS it away from Liv. 

 Little Sisters=Great Therapy 

Yesterday

So yesterday we're sitting at the table having breakfast.  Emmy is having her yogurt and bagels.  I only have Emmy's soy yogurt so I tell Ava she can have an applesauce squeezer thing with her bagels instead of yogurt.  As Ava trots back to the table with her applesauce Emmy starts to fuss.  I'm thinking there is some kind of GI issue going on as the eating, drinking, vomitting cycle is uncomfortable for Em.  The fit escalates and I'm trying my usual  methods to calm her down.  It suddently occurs to me that she may be upset that Ava gets the applesauce squeeze and she doesn't.  This doesn't entirely make sense because she would choose her yogurt over applesauce anyday but I start talking to her about it anyway.  I explain why Ava got to have something different and tell her she can have one for a snack later today.   She looks at me, smiles, stops screaming and finishes her breakfast.

There are times I forget that Emmy is 4, that she may want what her big sister has just because her big sister has it.  It is hard to remember what a four year old might say, or want, or do.  Although it can be difficult at times to be with other healthy four years olds, I try to just chat with them.  I try not to get all bitter about what they can do and what Emmy can't.  I view it as a little insight into what might be going on in Emmy's mind.

Yesterday felt like such a normal day.  Yes there was shakiness, hyperventilating and vomit but there was very little CRYING.  I was on and so was she.  I knew the right questions to ask with her cards and how to vocalize her feelings and it put her at ease.  Her body was cooperating and I could tell she was relieved.  She was just more peaceful.  I walked into the family room and she was on all fours trying to remember how to stand up from the floor.  This brought up so many emotions.  Before Rett, before her regression we worked on that every single day.  I would guide her hands forward, take one foot and place it on the ground, take the other foot and do the same and then she would pop her upper body up with a huge smile on her face.  She mastered that skill and spent her days going up and down to get to what she wanted to play with on the floor.  For some reason yesterday her hands were working long enough for her to attempt this again and it made me overwhelmingly ecstatic and devastated at the same time.  I helped her do her feet and she wasn't able to lift her upper body so I helped her do that too.  She turned to me and had that same smile except this time she didn't wander off to play.  This time she leaned in to give me a 'love'.  She can't give kisses necessarily so what she does is lean her head in close to mine.  Such extreme highs and lows, now I know why so many Rett moms are runners.  You have to do something to burn off steam in a healthy way or you'll go insane.  And I don't mean, "Ha, Ha, I'm going insane."  No, I mean curled up in a ball in the corner crying insane.   

  

Saturday Morning with Dad

Hanging in jammies and getting a lesson in how to change brake pads.  Ummm, I think it was brake pads.  Maybe it was calipers, roto-somethings??  Anyway, it was a very interesting and useful demonstration.  Next time I will pay attention.

What a difference a year makes

Before we had our diagnosis but were pretty certain we were dealing with Rett Syndrome I was kind of a basketcase.  I knew I wasn't ready to meet any other girls or families but needed to talk to somebody who knew what we were going through.  I came across a blog written by an amazingly wonderful Rett mom, Maren.  Her posts were positive but realistic.  She had a way of conveying how the disease had affected their lives without making the whole situation seem so doomsday.  I don't know how I initially got in contact with her (that time in my life is blurry at best) but we eventually started emailing.  I sent her some pretty pathetic emails.  I mean really, really sad emails.  I really held nothing back which is funny because she was a total stranger.  She helped me through some very difficult days and for that I was so grateful.

A little over a year ago, Maren, her husband Ryan and their four year old daughter Leah were moving across the country and stopped by our house for the night on their way.  We had just gotten our diagnosis a month prior.  At that point Emmy was about to turn three and other than being non verbal, it was pretty difficult to tell she had Rett Syndrome.  She didn't hand mouth or do any repetitive movements with her hands and her walking was still fairly steady.  She had just started opening and releasing her hands in a way that I could tell she was unable to control.  Last summer she spent a lot of time just looking at her hands and then looking at me trying to figure out what was going on.  When I think back on this time I lose my breath for a moment.  There are really no words to desribe watching your daughter struggle in this way...knowing that it was only a matter of time before the skills she had gained would vanish.

And even though I had no idea how this disease would progress, I knew meeting Leah would give me a little window into what the future would look like for Emmy.  What I didn't really expect was how helpful it would be just to watch Maren and Ryan interact with Leah.  Here is this young, adorable couple with an absolutely beautiful little girl just living life.  They weren't letting Leah's challenges stop them and this was such an important insight for John and I at the time.       

So much has changed in a year.

These picture was taken late last summer...

I remember Emmy dancing.  She was moving her arms and legs in a way she's unable to do now.  Her walking was much steadier and she didn't tire as quickly.  At this point, we were losing skills each day.  This was I believe somewhere near the beginning of her VERY slow, VERY long regression.  I don't have the heart to look back at videos taken at this time yet.  I am always so impressed with other families who put together videos of their daughters story.  I am just now able to start looking back at Emmy's picture book. 

Emmy has lost a lot over the year but she hasn't lost her will.  She is starting to understand her limiations better and is working hard to communicate.  I am so proud of this girl.  She is not the only one that has changed over the course of the year.  As a family we have evolved.  I don't really know how else to describe it.  We are stronger, more patient, more understanding, more aware than we were.  We are better because of our Emmy.

              

Emmy in a Storm

A post from Emmy's dad - john

For some time now a drawing has been taped onto our kitchen wall.  Months have passed with only casual glances.  A few days ago, during a difficult "Rett Day", I looked at the image.  Through new eyes it reset my perspective a bit.

The above image was drawn by Ava.  She describes the piece in such beautiful simplicity - "It's Emmy in a Storm".  ...my new eyes became filled with tears... The intensity of the storm, the strength of the umbrella and the pronounced smile on her face....  Her battle with Rett Syndrome is what we make of it.  To her this is life.  I will try as hard as I can to support her umbrella.

This image so nicely applies to most difficulties in life.

Here Comes the Marshmellow

John starts this game with the girls by announcing, "Here comes the marshmellow..." and the giggles begin.  They lay on their backs and the 'marshmellow' begins bouncing off their stomachs.  The kinda of scary part is the end when the marshmellow attacks.  This is Olivia's first time playing and you can tell by the look on her face that she is a little unsure.  She also gets a couple little elbows from Emmy, poor kid.  She takes it like a champ...

Of course there are variations...like 'here comes the leaf'

Reasons no. 102 and 103 why I married this guy.

Maren,  obviously your blanket gets lots of good use around this house...it is the perfect size and so comfy : )  

Wal-Mart Throw Down

I am not a confrontational person.  I really try to avoid confrontation at all cost.  But today at the grocery store, when an older lady decided to offer some free parenting advice during one of Emmy's flailing, biting, head hitting fits I could not simply walk away.  I know she has no idea what it is like living with Rett Syndrome.  It is a unique experience to say the least.  But when she told me I needed to take some parenting classes...well, let's just say that was my tipping point. 

These fits really started during her regression.  She has them at home, she has them at school, she has them at graduation parties (like the one we attended this weekend) and they can come out of no where.  For a while I chalked them up to the fact that she was losing skills and figured they'd get better.  Now I am certain her regression is FINALLY over but the fits continue.  John took her to the Rett Clinic in Minnesota.  They basically told us it was our parenting.  That she should not be on medication.  Now, I didn't take any video of the fits so I guess they really didn't see how severe they were.  And to some degree we were caught up in the emotional aspect of the whole situation and I was really unable to piece apart what was just three year old behavior and what was Rett.  We were concerned that maybe she was in some type of pain so we began treating her for reflux but the fits continued.  We implemented the PODD book so she could communicate better...it's not a perfect system but it's better than only yes/no cards but that hasn't solved the problem either.  We have an appointment with our GI specialist and we asked him to talk to Dr. Motil from the Rett Clinic in Texas.  I am ready to do whatever tests they suggest.  We need to know if she's in pain.  We even purchased a 'Special Tomato' soft floor sitter for her so she can't hurt herself during fits.  This was her birthday present.  Typing that makes me so sad.  A four year old should be getting dollies and playdough not soft chairs so she can't hurt herself.  Anyway, it sits on our family room floor and has been a life saver.  See I can't just set her on the floor and surround her with pillows.  Nope.  She's strong and she can scoot across the floor.  She will scoot over to the wall, TV hutch, pretty much anything hard and whack her head on it as hard as she can, over and over.  So now we're going to see Dr. Heydeman a neurologist out of Rush.  He sees many Rett girls and is willing to prescribe medication if needed.  I couldn't get in until February but after todays episode I called his nurse and begged.  I never thought I would BEG for a doctors appointment but today I did.  The nurse must've felt sorry for me because she worked some magic and got us in this Friday.  Thank goodness! 

So there is the history.  That brings me to today.  The throw down.  I had Emmy and Olivia and decided to go to Wal-Mart to grocery shop because I hate to say it, but they are sooo much cheaper than the alternatives around here.  Emmy LOVES to go grocery shopping.  I usually try and save my shopping for when she's with me.  For some reason it is such a special time for us.  She sits in the cart facing me and we talk.  She helps me make choices and I smoother her with kisses.  I tell her what a sweet, beautiful, smart, brave girl she is and how lucky I am to have a helper on my shopping trips.  She beams.  And I know that one day she will be too big to sit in that cart and face me.  I want to hold on to this time with her.  And Olivia kind of likes sitting in the big part of the cart and looking around but that doesn't leave much room for groceries.  So, I just stuff the food around the edges or underneat the cart.  Well today I ended up with much more than I thought and after I loaded it on the belt for check out I realized I would need another cart to get all the bagged food and the girls out to the car.  I told the check out lady I'd be right back, that I was going to grab another cart so I could fit it all in.  I went and got one of those ridiculously huge carts with two plastic seats for older kids.  I put Em in the big plastic seat.  Now unfortunatly this seat has a back and Emmy is able to hit her head on it.  I should've put her back in the cart seat but I guess hindsight is 20/20.  I rushed back in, hoping the fit wouldn't escalate.  There were now people in line waiting for me.  I tried to quickly  load the groceries and pay.  I knew people were staring but hey, I've developed a pretty thick skin.  I guess I could've just walked away and taken her straight to the car.  Anyway, I was then focused on paying and getting the hell out of there. 

And that's when this older lady approached our cart.  I'm not sure how she started since I couldn't really hear over the yelling (Emmy's that is) but all sorts of horrible things began spewing from her mouth.  She told me I shouldn't have kids, that I need to take parenting classes, that I was basically a horrible mother.  Well I unleashed on her.  To be honest I'm not sure what I said.  It was pure blind rage.  I think it was a combination of sleep deprivation, cold medicine haze and anger all mixed together.  I know I told her my daughter has a disability but it was obvious she wasn't listening.  Now, I have to say I know it is hard for people to watch somebody hurt themselves.  And I hate seeing it too but it is a part of  my EVERYDAY life.  Happy or sad, Emmy walks up to hard surfaces and hits her head...hard.  I have two choices.  Put a helmet on her (and I'm not sure that would really protect her plus I'm sure she'd hate that) or follow her every second of the day.  So I'm calloused.  I'm hardened.  I tell her that hurts, I ask her to stop, I distract her, I put her in a different location, I sit her in her chair and play  her favorite music, I sing silly songs or read books.  But at the grocery store today I think I tuned her out blinded by the sole mission of getting her to the car where I knew she'd calm down in her car seat.  So it was a pretty heated exchange.  Lots of yelling by both parties and the throw down ended by me almost taking her out with my big ol cart while trying to make my way to the exit.  I was shaking mad.

After writing this down though I am grateful, in a very weird, round about way that this occurred.  It drove me to BEG for an appointment with the new neuro.  I don't know if I would've called to do that otherwise.  And I know having these challenges in my life that I will NEVER give unsolicited advice to some poor mother at the grocery store or anywhere else for that matter.  I will not judge or condescend...even if I'm a sour old lady.  Because I know what it's like to live in a world where your heart breaks day in and day out while you watch your child act out of such anxiety and frustration.  So thank you, you cranky old witch from Wal-Mart.  Out of all your horriblness came some good.               

Loss

I had kind of tricked myself into thinking everything was ok.  That even though Rett Syndrome is difficult so many families make it work...and that we'd all be ok.  But just in the past couple of weeks Rett Syndrome has taken two more lives and it has shaken me to the core.  The night before Emmy's birthday I broke a rule.  A great rule that my friend Colleen had told me about when I met her at the IRSF conference in New Orleans...no Facebook after 8 o'clock.  When I logged on, the first post that popped up was about an amazing woman, Karly, who had lost her battle with Rett Syndrome at the age of 27.  Karly had learned how to use a keyboard to type and had started a blog to share her insights.  Reading her blog was like a little window into Emmy's world and it gave me such hope.  If Karly could learn how to read and communicate...so would Emmy.

And then yesterday, first thing in the morning, I learned that a sweet four year old, Anna, had passed away.  After we were diagnosed I watched a video of Anna and her parents on The View.   I didn't think that these deaths would affect me in the way that they have.  I thought I had kind of dealt with the whole 'early death' thing and had made peace.  But I am realizing that loss is something we will feel over and over again.  When we were first diagnosed I felt like I had lost Emmy.  I really had to grieve which was strange because she was still here, looking up at me and smiling.  And everytime I see Rett Syndrome taking over her body in a new or different way, I grieve a little more.  Hearing about these deaths was just a slap in the face, a reminder that one day I will need to prepare to lose her again.  I guess that is just the nature of the beast but man is it hard to swallow.

None of our Rett families knows what the future will bring but for the most part I feel like we are a pretty resilient bunch.  But not yesterday.  Yesterday seemed to knock us all down a notch.  I'm hoping that my fight returns today.  That the uneasy feeling in my stomach subsides.  After all, Emmy was happy this morning.  Her breakfast kept rolling out of her mouth but we moved past that.  She went on the potty, laughed at her sister in her jumpy thing and lifted her legs nice and high to climb the HUGE stairs on the bus.  I'm praying for no meltdowns at school and a good therapy session this afternoon.  I guess we just take it day by day, celebrate all the goodness and give the finger to the bad stuff.  She is here now and for that I am so very grateful. 

My heart aches for these parents who have lost their children and I hope they are feeling the love, prayers and support that is being sent by our family and I know many other Rett families.  

  

Sweet Olivia

I am determined to send out a birth announcement for Olivia.  Ava and Emmy have birth announcements in their baby books and Liv will too.  I've been dragging my feet because I've been wanting to get some really good pictures of Olivia.  A friend of mine down the street was awesome enough to come down and take some pictures of Liv with her super fancy camera.  I have never had such clear, beautiful pictures taken of any of my kiddos. 

Ava was playing in the sprinkler and wanted a picture too of course.  I wish I had some of Emmy to share.  She was chillin on her lounger eating snacks during the little photo shoot.

I guess the quality isn't as good when I cut and paste them to the blog but oh well.  I'm just thrilled to have some good pics.  Erica, if you're reading this, I thought of Avery wearing Liv's little jumper : )   

Time to Vent

Most of the time I feel like we have things under control over here.  It may not look under control to a non Rett family but for us, it's just our new normal.  And I feel like we're really in a good place on the whole.  But this past week I have been turning in circles.  I have spent an enormous amount of time on the phone with insurance and the clinic where Emmy receives speech therapy.  Yesterday, while speaking to yet again another BCBS rep, I had one of those 'lose you breath, tears rolling down your face' moments.  She ever so casually told me that they do not cover therapy when the diagnosis code is "cerebral degeneration".  Excuse me.  I don't know if I heard you correctly.  I then launched into a rant about how her issue is apraxia, how Rett is not degenerative, how she needs this therapy.  The B on the other end responded by saying (with an I don't give a crap tone) that that is how the provider coded it.  Lovely.  Grand.  Great.  The problems with this clinic and insurance run so deep...I've been dealing with this since January.  I'll stop there.  My head hurts just thinking about it. 

On top of dealing with trying to make sure therapies are covered, this disease has really reared its ugly head as of late.  I'm concerned she may be having seizures at night.  I went in to check on her this week after she started making noise.  She was smacking her lips in a really funny way.  Another Rett mom had said her daughter did that same thing after having a seizure.  Whenever she wakes up she is extrememly shakey and pretty rigid but we have been told this is more of a 'rett episode' not a seizure.  Emmy turns 4 this August and basically I'm dreading the day.  How can I be dreading my baby's birthday.  It goes against all maternal instinct.  But when she has a disease where seizures typically start at 4, how can I celebrate?  I don't want her to get older...to let this disease do any more damage.  I want my healthy baby back. 

I guess I could vent some more.  I could tell you about how our dog has been throwing up (and I don't mean just a small pile) on the carpet.  Or how I can't get Ava to stop biting her nails.  Or how Olivia has taken to SCREAMING anytime she's in the car but I won't.  I won't because I feel better now.  I've shed some tears and am ready to move on with the day.  This too shall pass...This too shall pass...This too shall pass.   

Starved Rock

I love Facebook.  I was scrolling down the Illinois Rett Family Page and came across something another Illinois family had posted.  Starved Rock, which is an Illinois State Park, was offering free boat rides on the Illinois River to kids with disabilities.  We decided to venture out (about a two hour drive) with all the girlies and spend the day at the park.  We all had to wear life preservers, even Olivia.  Here is super dad keeping her asleep so she didn't freak out.

Emmy couldn't get enough of the wind blowing in her face.  If this girl could make her body do what she wants I think she'd be a little fast talking dare devil.  She loves to go fast, the faster and crazier the better.  She also is constantly tapping her communication book and looking at me like, hey, I've got something to say here people.

After the ride we climbed to the top of Starved Rock which was a lot of fun.  You might be wondering how we lugged three small kids to the top. 

We got plenty of "Wow, you've got your hands full" comments and other stares but we had such a great time.

Discovering Olivia

I've tried a number of times to capture the look Emmy has on her face while looking at her new baby sister.  The problem is, I can't run and get the camera for fear Em will whack Liv on the head in her attempt to give a "lovey".  Just recently, maybe within the last couple of weeks, Emmy has really started paying attention to Olivia.  She constantly checks on her in the car, smiles at her while she's in her bouncy chair and wants to touch her any chance she gets. 

This week we were outside on our back stairs and Olivia was in her car seat on the top step.  Emmy and I were talking to her and Liv was giving smiles.  Kinda like this...

All of a sudden, without any prompting, Emmy put her hands down on the step and very slowly crawled up to the car seat!  It was awesome!  She used to be able to crawl up the whole stair case at our house but that stopped once her hands wouldn't cooperate anymore.  Ava and I cheered her on and once she reached the top it was very obvious she was proud of herself.

Once she gets in a position to touch Olivia she always goes straight for the binky.  She will isolate her pointer finger (also a skill that has almost completly disappeared since her regression) and very gently touch it.  Then she looks up at me with the funniest look on her face.  Emmy sucked her thumb and never took a binky.  She is totally perplexed.  She wants to know what the heck it is and why Oliva has it in her mouth.

I am amazed at what Emmy can convey with her eyes.  She is becoming pretty skilled at communicating in this way.  And we're getting better at reading her.  I've also been meaning to write a post about our new PODD book we've been using.  When I was first trying to figure out the whole communication thing with a totally non verbal kid who can't control her body, I was really lost.  It's taken a long time and there is a lot of learning we have yet to accomplish, but at least we've got a tool to use.  Emmy now looks at the book when she wants to tell us something.  I love that!  Eventually we want to get her an eye gaze computer to communicate but that will be down the road.  She has trialed the eye gaze 3 or 4 times and quickly figured out how to focus her eyes on a picture to convey what she wanted.  She even scanned through multiple pages to find the Barney song she liked!  Again, another whole post for another day. 

But for now we are just trying to drown out all the extra noise and demands and enjoy our little family of five.  Sorry Cho, six.  Rett Syndrome gets in the way occasionally but we don't let that stop us.  We just keep on keeping on.     

7 Weeks Old

This didn't last long but we were all cracking up!  Olivia didn't mind at first but after the stroll from the family room to the kitchen, she began to protest.  Our sweet Olivia was 7 weeks old on Saturday.  She is starting to really focus on our faces and even give us some smiles.  With the first two girls I didn't stress if they weren't hitting milestones exactly when the books said they were supposed to.  This time around I find myself checking baby books to see if Liv is doing what babies should be doing at this stage.  I know it's all out of my control and the odds of us having another daughter with Rett is so slim but I still let the doubts creep in once in a while.  One good thing that has come from Rett (and there is not many, believe me) is that I am able to really enjoy Liv for who she is...right now.  We understand that we are not guaranteed anything.  I don't spend a lot of time thinking about how fun it will be to hear her first words or watch her take her first steps.  It really frees you from living in the future as we so often do in life.  We enjoy the present, and that is a gift Emmy has given us.

It's Pajama Time...oh, yeah

I think Livi is trying to eat Ava's nose.

Can you tell Ava had been outside smelling dandolions?

My D Day

One year ago today I spent the day sitting outside of church crying.  First of all, there wasn't enough room to even stand in the back.  Second I didn't have the heart to pretend, to go through the motions.  Just two days prior John and I had heard the words Rett Syndrome for the first time.  I wanted so badly to believe that there is no way Emmy could have such a horrible disease but in my heart I knew.  The day before we had been sitting on John's parent's deck and Emmy was looking at their cat through the glass door.  Just a few short months before she had been saying cat and smiling.  Now when we tried to get her to repeat it, she just stared blankly ahead.  When I think about what it sounded like to hear words coming from her mouth my heart breaks again and again.  When I would hear those words I thought it was just the beginning.  But instead it was slowly coming to an end.

Although we weren't officially diagnosed until JULY, yes JULY, a whole two months later, last Easter weekend marked the beginning of what has been the bumpiest road I've traveled.  There are times when I want to scream.  And there are times when I want to wrap her up, hold her and make it all go away.  There are times when I accept Rett Syndrome and then there are times I feel certain they'll find a cure.  Whatever the future holds for Emelia I just want to love her.  I want to take the time to understand her, to give her choices, to work as hard as I can to help her learn and grow.  She is a beautiful, sweet little girl who deserves it all.

So I'm certain each Easter weekend will stir up these emotions again and again.  I will shop for things to put into their Easter baskets and remember when she used to walk up to her Easter basket, sit down on the floor, pull out a special book I bought her and flip the pages.  I will long for the time before I even knew Rett Syndrome existed...back when I allowed myself to dream of Emelia's future.  I will take the time to mourn the loss of what I thought would be.  And then, I will shake it off and focus on the good, all the blessings I have in my life.  I will ask God to give me strength, patience and courage to tackle what lies ahead and have faith that He will help me through.   

She's Here! She's Here!

Olivia Gabrielle Foster was born on Saturday, March 17th at 11:28 am.  She weighed in at 6 lbs. and 7 oz. and was 20 inches, our biggest baby yet : ) 

Grandma E. with Ava and Olivia

We had to be quick to get this picture!

Olivia with her Mimi

My tiny girl coming home!

 

Hippotherapy

Emmy has been going to hippotherapy at a wonderful facility called Horsefeathers.  There are lots of benefits to this kind of therapy but mostly it helps her maintain core strength.  There is an awsome OT who works with her and Emmy absolutley loves her.  Unfortunatly, our insurance won't cover this "out of network" therapy so we can't continue going but one day hope to pick it back up again.  Who would've thought a barn was out of network?

Here she is getting on Calvin, her little pony. 

Ava's birthday is coming up and her present from us was a horseback riding lesson during one of Emmy's therapy sessions.  She has been asking forever if she'll get a turn to ride and she was so excited when we told her what she'd be doing!

She got to ride on Red Rover.

Whachu Talking Bout Willis?

For some reason those are the only words that came to mind when I looked at this picture.

Rare Disease Day

Everyone has a story.  And when you see them walking down the street or in the grocery store or eating at a restaurant you have no idea what they've lived.  Right after we got our diagnosis I found myself getting angry or bitter when I felt others didn't 'understand' our situation.  I had taken the girls to a playplace so Ava could meet up with her friends.  We had brought lunch and were planning on eating then playing.  We sat down and I started getting the food ready to feed Emmy when a lady who worked at the place came over.  She informed us that we needed to eat upstairs in the loft area.

Soooo... I have a kid in a stroller and there is no elevator.  She's fussy because she's hungry but I can't just hand her a bag of crackers and let her feed herself.  I'm pregnant and can't carry the stroller with Emmy up the stairs so she needs to get out and walk up the stairs which is difficult for her to do.  I didn't want to say anything to the lady about Emmy's limitations.  I knew we'd have to go eat in another area where we weren't able to see the playplace and I couldn't keep an eye on Ava.  Ok.  We need to eat so up the stairs we go.  I get Emmy out of the stroller and hold her under her arms and start trying to get her to lift her feet for each step.  She's not happy and starts hitting herself, biting and screaming.  Lovely.  Now all of the families eating in the loft area have turned their attention to us.  We make it to the top and I start feeding Emmy so she calms down.  Ava and her pals rush through lunch and head back down to play while Emmy and I stay up in the loft for a while watching and eating.  In my head I'm cursing the lady who made us come up here.  I'm sure she had no idea what it's like to care for someone who can't do things for herself.  The feelings were compounded by the fact that all the kids were having a blast and Emmy couldn't get in there to play.  I sat up there stewing for a while.  My friend was down by the playplace chatting with the lady who worked there.  Later in the parking lot my friend told me the lady had been asking about Emmy.  The lady had shared that she had taken custody of a friend's severly autistic adult daughter after her friend had passed away.  She was talking about how challenging it can be and wondered about Emmy's situation.  It then hit me.  I was judging this lady...so certain she had no idea what it would be like to live with Rett Syndrome when in fact she was going home to a very similar situation everyday.

So often I found myself looking at others in the same light.  I would see families with their three healthy children and wondered if they knew how lucky they were.  They didn't have to watch their children suffer...what a gift.  I was sharing my feelings with my mom one day and she said, "Well look at your brother's family.  Seeing them now you would never know what they've lived through."  This is so very true.  They now have three, beautiful, healthy, hilarious sons but it wasn't an easy road. 

See, unfortunatly our family has been touched by more than one rare disease.  My brother and his wife lost two sons to a rare disease called "Gauchers".  It is a genetic disease, like Rett, but it is hereditary.  Each child they had, had a 25% chance of having this disease.  Since February 29th was rare disease day I wanted to share their story.  I have found that when others share their stories with me it gives me such a greater understanding of life and it's challenges.  It makes me feel like I'm not alone living in this world of the unknown.  And, it always reminds me that we are stronger than we'll ever really know.

Kyle and Bek's Story

When our second son was born, we thought our family was complete. It is hard to remember back to that, to before we were marked, changed. Colleen sometimes asks "Do you still feel it?"... I am never quite sure how to answer, yes, you always feel it...but it changes, spirals, you feel different parts and a distance grows...the feeling changes. It can still knock you down, but the quality is different, you rest in it, digest it again.

When our second child Ezra was 4 months old he started coughing. He was sitting up , and we even got to hear his laugh once but the cough never went away, I was so exhausted and so worried, I must have gone to our doctor 5 times in 5 weeks, they finally basically told me to stop calling. I also noticed a neck retraction which led me to bring him to a chiropracter who at least listened to me and seemed concerned about him. She could see what I was saying when I insisted "something was going on".

By the time he was 8 months old he could no longer sit, the cough and neck retraction where worse...and then suddenly, he stopped baring weight. He just lost his connection to his feet. It was about this time that I saw a picture of him at 6 months...He was clearly bigger than the child I now held in my arms.

We went back to the doctors and I was stunned at the treatment we got: after being told to stop worrying so much, it was a whirlwind of specialists, scales that to my horror showed weight loss. That afternoon I came home with a hole in my chest and my life flooding out all around my feet. I called my family to give the news: we are going to the Children's Hospital in St. Louis tommorrow, they think Ezra has Cerbal Pasley".. my worst fear. A nightmare I could not wake from. Less than 24 hours later a cerbal Palsey diagnosis would seem like an escape, a breeze: "I take it BACK! Please let it be C.P!". Gauchers Type 2 is a rare metabolic disorder, it takes the child back, all the back to before autonomic nervous function...back into the abyss. We held tight to denial, and tight to his little body which was getting littler each day. But we were going to fight we were going to be so good and so pure and so hopeful that God would take this away and our child would live...He only lived to be 11 months old but I feel like we fought wars for decades during those months, driving to specialists, searching for hope. There was no sleep. He could not tolerate outside air (his mammilian diving relex would send him into apnea). He nursed 22 hours of everyday, nestled close in my sling, my body was his morphine drip.  When he died in the hospital in our arms, we could still not believe he was even sick.

And how can I explain what follows? Left with one child now the question: do we have more? Do we test? With Gauchers it is probable that we both carry a recessive gene and so...25% chance for a repeat. It was my sister Maria who said "Yes, but that is 75% in your favor!"

Our third son was born 10 months after Ezras death. We had not done any testing. We lived in a cloud of unknowing.  On edge.  But even though we were on the edge, I was happier than I ever have been in my life before then. Azel showed me how Ezra made me a mother. There was nothing to "get back to" my life wasn't "on hold" while I nurtured this small baby. This IS my life. Now, always NOW. I was able to feel new heights of joy even as we continue to process the grief. A feeling that my heart has been broken open, that I can feel a broader spectrum than I once could. 

With our family complete, we were talking about steralization and practiced safe sex. When Azel was two we were visiting my family in Phoenix, walking past the fish in the butchers section I got sick...I got....*sick*.... I knew the feeling well, but I could not believe it...So began 9 months of tears, fear, hope against hope, joy, and terror. The moment Eden was born with a swollen belly I knew, I knew he was not for this earth long. I knew my children would burry another brother, my husband would burry another son...our parents another grandchild, it was so starck. I wanted so badly to hold it forever, to protect my children, my husband, our brothers and sisters and parents. All I could see was rings of grief and our family at the center. I wanted protect everyone from the coming storm forever...but it wasn't long. When he was 3 weeks old we did our PKU test, and he about bled out through his pin prick. Gauchers kids do not produce platletts. We had a diagnosis about 3 weeks later.

Eden only lived for 4 months, and it was like a chance to be with Ezra again, as well as getting to know this new angel. He was the opposite side of Ezra's coin. So calm, so happy, he loved the wind in his face, the sun on his pink brown hair, he slept in a dream between worlds. He seemed to be spared all the pain and agitation Ezra had fought so hard with. We wept deeply, openly. There was nothing to fight, and there was no fight left in us. We just laid down in our bed together. We found a hospice nurse who would come, and she was exactly like our midwife: she came once a month and we talked about what to expect, what to get to be "ready". We put a welcome mat out for death to come and take our precious boy and prayed for grace.

It took almost two years but we did come to the place where we were at unity that another child was knocking on our family's door. We prayed and told each other, and the unborn child, and God that we would have to test. We would have to know. We agreed to one last pregancy. We submitted to a CVS and then an amnio (since our lab work was lost...why not?) finally at about 20 weeks into the pregnancy, we were told the miraculous news: we could expect a child without Gauchers. We could finally tell our families! I was so excited to tell our oldest son Elijah who was so deeply marked by lossing two brothers. He had been crying recently when we saw a baby at the grocery store, or wherever. He would get all teary and just shake his head "it isn't fair"...So when we finally could tell folks, he was the first one we told. He started jumping up and down and cheering. All the sudden he went totally quiet. "I hope this baby doesn't die". Oh sweet heart, we know this baby doesn't have Gauchers. We all just cried together and laughed too.  And our hearts heal as Zen grows. I feel like he has been salve for us all.

So after 5 births our home is full, and our family is complete...Five sons, we are a interdimentional group. Three are here and two have gone on ahead of us. I feel like they have gone to college or something: I am glad they are well, but I wish they would call or write once in a while. I miss them.

I told Colleen, I feel like this is the first spring I have really experienced since Ezra was here, 8 years ago. I feel like colors are creeping back into my visual field, like life is real. And yet, I would not change a moment of anything we went through as a family. My soul, my core being has been marked, I have been changed. Our marriage, our parenting, our lives can never be as if we were not touched by Gauchers. I feel like I am on the other side of a Valley. "Do you always feel it?" Yes. You always feel it. But the feelings grow and spiral like a great tree in your heart.

When Colleen told me about Retts, I must admit it rolled off me like water...my waxy armor said "no, certainly not, she must not know what she is saying". It still hits me like cold water. Instantly I got a seat on the other side of the fence and now I am feeling all that they must have felt watching our family: helpless to do anything. The only rope we have is our love for Emmy, Ava, Collen, John and the new peanut! We have also the journey, and the knowledge that the Valley is not endless but only a piece of the journey. We are all along for the ride.

   

Discipline

How do you discipline a kid who, up until this regression, has never done something she's not supposed to?  I honestly don't know if she knows there are rules in this world.  Up until the regression she smiled, flipped through her books, sat and played with toys, worked hard at therapy and achieved so many of our goals.  We encouraged her to get into stuff!  I remember one day before John left for work he opened one of our drawers in the kitchen and showed her how fun it would be to pull stuff out and make a mess.  A couple of times I put her in a time out for some small offense.  I came back to check on her and she had gotten out of the chair...all by herself.  Instead of telling her she needs to wait until I come and get her out of time out, I cheered for her.  Yea Emmy, you got out of that chair all by yourself...what a big girl!  The girl has never complained about not having a turn or been possesive over any toys.  She simply does not care about material things, other than her books.  As long as she's engaged with people, she's happy.  But this leads me to our current problem.  Since she's now unable to do things on her own, she wants somebody to engage her most of the time.  The only thing she can do independently is listen to music which she does A LOT when we're home and cooking, cleaning, living life.  So, I think she gets bored, restless, frustrated she can't just go over, sit down and look at her books.  It was not so long ago that she could.  Now, I need to help her get to the floor and hold the book.  I need to take both hands and help them flip.  Since I'm not available to assist her 24/7 AND she can't communicate with me she pretty much freaks out.  Since she's started regressing there has been a ton of head hitting, biting, flailing, screaming and otherwise uncontrollable fits.  Now, I'm used to a fit.  Ava was an expert fit thrower but Ava never hurt herself.  That's the part I have to watch carefully with Emmy.  And I'm in the dark about what the fit is about.  I would say maybe 10% of the time I know why she's upset.  The other 90 I'm guessing.  Does something hurt?  Is she feeling sick?  Did she bite her hand too hard or hit her head on something?  Or does she simply want me to change the song?  Maybe she's upset because she wants to sit on the potty...the list goes on.  I threw any and all discipline (like what I would have done with Ava) out the window.  I just wanted to make her happy.  And truthfully, when we found out she had Rett Syndrome and began to understand what she was going through my heart was breaking.  I started having a hard time just engaging her in simple floor play.  I was watching the skills disappear and it was just too hard to watch.  The situation just seemed (and still does) so cruel.  So I found myself, during these fits, crying right along with her.  I tried everything possible to sooth her.  I didn't tell her to stop biting or hitting.  If my body was failing me I'd probably bite and hit too.  But now we're all starting to get comfortable with her new limitations.  I'm so unbelievably thankful to have reached this point.  Losing the skills was the absolute worst for her and for us.  I am bracing myself for what may lie ahead but really the hard part (so far) was going from her having some independence to basically having none at all.  Even though she's more comfortable with what her body allows her to do she still has the uncontrollable fits.  I think improving communication is going to help A LOT and we're taking steps to help us be able to communicate with her better.  But that will take time.  We looked into helping with anxiety but the doctor didn't recommend medication.  He suggested behavioral therapy.  I know nothing about behavioral therapy and at the moment I'm too tired to start researching.  Any other Rett parents out there have suggestions?  Are there different types of behavioral therapy or is ABA the most commonly used with our girls?  And what the heck is ABA?  I've heard it described in broad terms but want to know what it would look like when you're trying to break self injuring behaviors.  I don't mind adding another therapy to the mix if it will calm my girly down.  So for now I just try and read her before the fit comes.  I try to communicate with her before she's too upset.  And if I'm not succesful and the fit is out of control I put the braces on her, surround her with pillows and let her flail.  I guess if she can't express herself with words then she needs to express herself through movement.  She needs to get out that frustration, anger and saddness.  We're just all thankful when it's over and we can move on with our day...until another one strikes!     

Dress Up Time

Around 4 pm or so these two start getting a little restless.  The hats, scarves, dish towels, safety pins, yarn, crayons, tape and other random household items come out and it's dress up time.  Emmy is such a trooper.  She pretty much goes along with whatever story line Ava has created...





Emmy mid-flick

 

For some reason dress up time with Ava always involves tape.






The flying fairy...



...and some kind of chinese princess

This is Rapunzel...with homemade hair.



And here's the prince...also with homemade hair!



My Therapists

There are so many therapists in my life...that work unpaid.  Mainly, my parents, sister and brother.  These four have listened patiently and loved unconditionally.  They've helped me wade through the deepest, scariest waters.  They've reassured me, telling me I can do this even when I think I can't.  And I am just beyond grateful.  I've realized that I'm not the, "pull up your big girl undies and move on" kind of person.  When the shock and saddness hit, I had to take the time to feel it.  I had to let myself get all the way to the bottom of it and rest there for a while.  And had I not taken that rest, I think I may have exploded.  I needed to call my family and repeat myself a million times and have them tell me it was going to be ok.   And now, after many months of digesting our new reality, the saddness has subsided a bit.  It still washes over me, knocks me down, but it takes less time for me to get back on my feet.

I feel like I've found a way to grieve but still live life.  Be sad about Emmy's struggles but still find joy. There was a time when I wondered if I would ever feel joy again.  It felt like no matter what I was doing a piece of my heart was dark.  Nothing felt complete.  But over time I am getting better at pushing the Rett monster aside and trying to focus on whatever small joy may be presenting itself at the moment.  Rett Syndrome will be there, it doesn't need my immediate attention all the time.

Never have I had to deal with a difficult situation that I wasn't able to push out of my mind, if even for a brief couple of minutes.  There has always been some distance.  But Rett Syndrome is an every day, in your face, kind of struggle.  And to top it off the person who is struggling is someone who owns a piece of your soul.  It has just taken me a while to figure out how to live with this battle and still find joy.  During one of the MANY converstations I've had with my dad throughout this time he told me that living with joy is a choice you make.  Ok, easy to say, harder to do when you're watching your daughter regress.  Then he shared a story with me...a piece of his childhood that I never fully understood.  Throughout his childhood his father had heart attacks year after year after year.  He had a host of medical problems that left him unable to work and in pain.  My grandma worked long, hard hours and my dad went off to school each day.  He said when they returned home they were never quite sure what they'd find.  This went on for years.  As a young boy he had to figure out a way to live life, enjoy life and focus on all the goodness that surrounded him.  This story not only gave me a little insight into what has made my dad, my dad...it gave me strength.

My therapists, whether it's my family, other rett moms, neighbors or friends have sat with me and listened.  It's really remarkable.  They haven't tried to 'fix' things... they haven't offered up one liners like "It's God's plan" and walked away.  They've sat by my side and let me grieve, letting me know it's ok to feel.  Really, what would I do without these people?  I just hope I can be that person for somebody else.  That I can be a good enough friend to just sit by their side and listen.   




  

Winter Walk

Ava has been asking if it's really winter.  There has been pretty much NO SNOW in Chicago until today.

They all came in with smiley, red faces.  John said at one point the sled flipped over and they both went face first into the snow.  He thought Emmy would start screaming.  Nope.  She was just happy to eat snow without having to make her hands cooperate!