Wednesday, November 30, 2011

Going on 24 Weeks!

Finally a belly bump picture!  I've been feeling great other than the usual stuff, occasional heartburn, backaches, whatnot.  I'm feeling lots of little (and not so little) kicks which I think is the best part of pregnancy.  John felt his first kick the other day too : )  I know we've got about half way to go but I'm getting pretty excited to meet this little girl!  

Wednesday, November 9, 2011

Also in October...

messy hair emmy in her tinker bell jammies

Master Tigeress (many thanks to Grandma E. for making her costume!)

and the Dragon Warrior!

Wearing her Cardinals shirt, enjoying some World Series action!  This is about the fourth inning ;)
Sorry dad

After trick or treating bonfire at the Rossi's

the girls discovered pixie sticks...yikes!
apple picking

Emmy at school!

Tuesday, November 8, 2011

Natural History Study

This past weekend we took Emmy to her first Natural History Study for Rett Syndrome at Rush in Chicago.  This is basically a research study of the natural progression of the disease over time.  Since Rett Syndrome wasn't identified in the U.S. until the 80's there is not a lot of data out there that provides a clear picture of this disease.  Once the medical community knows more about the disease then they will be better able to come up with treatments for the girls.  So not only do we help the research process by participating we also get to ask questions and actually get answers!

Yep, get answers!  Instead of walking into a doctors office while they're googling Rett Syndrome we got to talk to doctors who work at a Rett Clinic at Baylor College in Houston.  They see girls with Rett Syndrome all day, every day.  Any weird problem we threw their way, they pretty much had an answer.  I fired off questions while John had the pleasant task of keeping Em happy for hours and hours in these tiny little exam rooms.  There were no invasive tests, just some measuring and lots of questions to answer.  There were times when I was sitting there that I felt like the whole situation was so surreal.

Really, is this happening?  Am I really sitting here asking questions about seizures and life expectancy?  Will I wake up anytime soon?

Nope.  This is as real as it gets.

So although it was not the first place I would've picked to spend a beautiful fall Saturday afternoon, it was where we needed to be.

Hello, my name is Emmy.  I would rather walk the hallways and press elevator buttons than listen to a bunch of neurologist answer questions at a panel discussion.  Dig my crooked part?

Playing "Daddy Flick Face".  Just some of the abuse John took that day : )

One of the most interesting things we learned is that, in their data base of MECP2 mutations, they were unable to find one that matched Emelia's.  Is this good or bad you ask?  Well, that is one answer the doctors didn't have.  There are about eight mutations that are common but over 200 recorded.  The eight mutations that are common have been studied a little further and they can make some predictions (although not always right) based on a girls gene mutation.  But our Emmy is one of a kind : )  No predicting here.  Just more hard work and another round of "Daddy Flick Face".

Monday, October 31, 2011

Ahhh, October

October is Rett Syndrome Awareness month.  I've been meaning to write this all month but just haven't gotten to it until now.  Last year at this time Emmy was so close to walking independently.  She was a very content little girl.  She sat and played with her toys, flipped through books and had some words.  This year is much different.  She is walking which was a huge triumph but some of her gross motor skills have become harder for her.  She has lost most hand function and all of her speech.  She wants so badly to play, to communicate, to stop her hands from fidgeting but is simply unable to make her body do what she wants it to do.  It is because of the frustration I see on her face and hear in her screams I am sharing this information.

  •  Rett Syndrome is a severe neurological disorder that affects 1 in 10,000 girls.

  • For the first 6 to 18 months of life girls develop normally.  When the disease kicks in it either stalls their development or begins to drag it backward.

  • The most severe problem girls with Rett Syndrome have is apraxia, which is the inability to carry out motor movements.  Emmy knows exactly what she wants her body to do but can't make it work.  Imagine how maddening that would be!!!!

  • Girls with Rett Syndrome often experience many  medical complications such as; problems chewing and swallowing,  seizures, abnormal breathing, gastro-intestinal issues and heart problems.

  •  Rett Syndrome is a SPONTANEOUS genetic disorder. That means that it doesn't run in families - ANY expectant parent is at risk for having a child with Rett Syndrome. Rett Syndrome doesn't discriminate - all races, ethnicities and economical statuses are affected.

  • Girls who have Rett Syndrome have a mutation on their MECP2 gene which is located on the X chromosome.  Girls have two X chromosomes so therefore have one healthy copy of the MECP2 gene.  Boys have only one X chromosome so if they have a mutated MECP2 gene, they usually do not survive.  To learn more about Emmy's mutation type click here

  • Dr. Andreas Rett of Austria first recognized Rett syndrome in 1954 but it was not acknowledged in the U.S. until 1982 when Dr. Bengt Hagberg of Sweden wrote about it in English. In 1999, the gene causing Rett syndrome was discovered in the lab of Dr. Huda Zoghbi in the U.S.  Once the gene was discovered, girls were able to have a blood test to determine  whether they had a MECP2 mutation.

  • Life expectancy isn't certain as most girls identified are younger.  It is expected that girls live into adulthood barring any illness or complications.  Deaths are often sudden and unexplained and attributed to seizures, swallowing difficulties, lack of mobility, compromised lung function, accidents and illness.  

  • In 2007, symptoms of Rett Syndrome in mice were reversed in the lab of Dr. Adrian Bird in Scotland.  This reversal has provided much hope for those living with this disease everyday.  Now, they just have to figure out how to do this in humans!

  • Rett syndrome is often characterized as a “Rosetta Stone” disorder that can give insight into a host of other larger disorders such as autism, Alzheimer’s, and Parkinson’s.  Funding research for Rett could help solve the mystery behind these other devastating neurological diseases.

  • The first human clinical trial to attempt to treat the underlying mechanisms that cause Rett syndrome is underway at Boston Children's Hospital.  They have completed the first phase of the study and have seen promising results!  Read more about the study here

Friday, October 21, 2011

A Good Morning

Emmy woke up about 10 after 6, not bad.  I brought her into bed with us and although she didn't lay there long she was pretty content.  I brought her downstairs (Ava was up and came along) and changed her diaper.  No complaints.  No biting or hitting.  Then, here's the kicker, she walked over to her books I had up on the chair and she flipped through them.  Not perfectly, there was still a lot of tapping, but she had a smile on her face.  I even went into the kitchen and finished up some dishes!  There was no screaming, no throwing the book, just little giggles and great hand control.  Then...then before I went to walk the dog she walked over to me with her sippy (no handles) in her hands.  She stared at me and then down at her sippy for a good couple of minutes.  She took drinks, unassisted, and didn't drop it!  Now, she still can grab stuff occasionally but never hold on to it for any length of time.  John and I sat there and just watched.  The whole morning there was no screaming, hitting or biting.  I got her dressed for school and she even let me put her hair in piggies (wish I had a picture to share, so cute). 

I know, I shouldn't get too excited because it could just be the day.  But my HOPE is that maybe we're turning the corner.  Maybe she will regain some hand control.  Maybe that will make her happier.  See the hardest part about dealing with Rett Syndrome hasn't been letting go of my dreams for her.  I have accepted the fact that her life course will be different than what we expected.  And that's fine, we love her just the same.  The hardest part has been watching her suffer.  Watching her face turn blue while she's unable to breath is hard.  Watching her stare at her hands and scream in frustration because they won't do what she wants is hard.  Listening to her cries and knowing she has so much she needs to tell me but can't is hard.  I just want her to be happy, at peace.  I find myself praying for just that, peace, in any form God can provide.

So today the sun in shining (after days of rain), it's not too cold, and I have two happy (even if just for this day) girls.  Today we'll get outside and soak in the autumn sun...and be ohhh so grateful for our good morning.    

Tuesday, October 18, 2011

Spaghetti Dave

Last weekend we went to John's parent's house to celebrate his dad's birthday.  Spaghetti Dave made his famous sauce and I ate until my big belly was about to burst.  The girls had a great time goofing around with their cousins...

Ava and Ella hitch a ride around the basement

Emmy studies Elmo with Morgan

I don't think the twins took those princess dresses off all weekend!

John with three of his siblings...Joe, Michelle and Marie

Emmy getting silly with Mimi

The birthday boy

All those dirty little fingers going for icing

Getting ready to go out to the bonfire

On the way to the car

Now, I don't remember my responses exactly but I do remember Ava's questions.  This is about how it went...

Ava (staring at the handicapped parking space signs):  "Mama, why are there handicapped people?"

Me (pausing for a moment to contemplate how to approach this question):  "Some people have bodies that don't work the way they want them to, like Emmy."

Ava:  "But when Emmy grows up, her body will work?"

Me (now sitting in the front seat, thankfully not facing Ava): "No, even as Emmy grows up she won't be able to use her words to tell us things and she won't be able to use her hands to play with dollies the way you do.  She wishes she could do those things but she just can't make her body do them.  But we keep hoping that one day doctors will find a way to help Emmy."

Ava:  "Oh, that stinking disease...I want to kick it in the face!"

Me (now laughing outloud) "Me too, Ava."

Ava:  "Do some kung fu on it."

Me: "Yea, some kung fu"

It went on like that for a while.  We released a little anger and got a good laugh all while Emmy sat in her seat smiling.  I'm sure if she could pipe in, she'd have some ideas about what she'd do to this stinking disease too. 

Monday, October 17, 2011

Here's an article I came across this morning.  It is beautifully written and describes the challenge of parenting for just today....not for a future you're unable to control. 

Wednesday, September 28, 2011

Letting Go

Somebody once told me that parenting is the art of letting go.  It could have been my dad.  And I thought about it in terms of my family.  Three typically developing kids going through the normal stages of life.  I'm not particularly good at letting go or facing change but as we started this parenting journey, I was sure I could handle anything.

When Ava was born I pretty much kept her all to myself.  Yes, we had some rough new born screaming days when I gladly handed her off to somebody else but for the most part we spent our days (and nights) together.  I loved being home with her.  I loved watching her grow and develop her little personality.  I loved experiencing life through her eyes.  The night I went into labor with Emmy, I went into Ava's room and watched her sleep for a little while.  I cried because in a weird way I was letting go.  She was going to become a big sister and although I knew that was such a great gift, it was going to change things.  This saddness was fleeting and quickly turned to excitement when our sweet Emmy arrived!

The first year of Emelia's life was such a wonderful time.  She was an easy going baby and fit perfectly into our family.  I felt so blessed to have two healthy girls.  Life could not have gotten any better.  And in that first year I pretty much kept Emmy all to myself.  I loved everything about her.  I nursed her, held her, giggled with her and thought about her future.  I watched Ava love her and was so overjoyed that they would have each other.

After about a year, Ava at 3 1/2 was really ready to venture out to preschool twice a week.  Yes, I had to let go a little but the girl was ready to go!  I knew I would keep Emmy home with me the extra year because her birthday was late August.  She wouldn't start preschool until she was already 4.  The thought of all that time to watch my Em develop, to take her to library story time, to just be her mommy brought me such joy.

It was around the same time we began to worry about Emmy's development.  She was a year and hadn't started trying to crawl or pull up on things.  We brought up our concerns to the pediatrician and she suggested having Early Intervention come to our house to do an evaluation.  Wow, that was only the beginning.  I wasn't thrilled about having therapists come to our house to work with Em but she needed help and I didn't know how to help her.  I watched as our PT and OT tried to get her to do things she had such a hard time doing.  I watched her scream through so many sessions.  I wanted to scoop her up, tell the therapists to leave, and keep her all to myself.  But I didn't.  I kept up the therapy sessions and worked with her EVERYDAY to get her moving.  When she finally started walking at 26 months I could not have been prouder!  She had worked so hard and I was confident she would only progress from there.

The therapy continued and at least three times a week I had to let her go.  She wasn't ready and I wasn't either but we didn't really have a choice.  I know this sounds weird but I would get her from therapy sessions and for the rest of the day she smelled like the therapists perfum.  I HATED this.  I didn't want this therapist handling her.  It should be me.  Things shouldn't be this hard for her.

And as she neared three and we received the Rett diagnosis I had to completly let go.  She needed so much therapy and had aged out of the Early Intervention program.  She would now receive her therapy at preschool.  The preschool I wasn't ready to send her to.  I had to watch her lose her speech, her ability to flip through her beloved books and her ability to play with her toys.  I had to let go of what I thought her future might hold.  This letting go has been the most painful so far. 

I have had to open my hands, release my tight grip and trust in God's plan for her life.  Whatever that plan may be, I have to find a way to make peace.  And in a way letting go of the worries, of the future of the what-ifs has been a good thing.  I am simply UNABLE to think beyond the near future.  If I do, I will drive myself insane.  What if she starts having seizures?  What if one day she isn't able to walk?  What if one day she never wakes up?  Erase it all.  Focus on today and find a way to HOLD ON.  Hold on to the idea that one day there will be a treatment.  One day there will be a cure.  One day I will hear what she has to say!

I've realized this parenting thing is truly an art.  Just when you think you've got the hang of it, you have to slowly let go...of all the control you THOUGHT you had.  You have to open yourself up to whatever life has in store and make peace.     

Wednesday, September 21, 2011

All Things Kung Fu

Ever since Ava watched Kung Fu Panda with my brother's three boys, she's become obsessed with all things Kung Fu.  She came home from school with a library book entitled "Welcome to China" and had me read and re read the martial arts section.  She sat and copied Chinese letters.  She wants to be Tigress for Halloween.  And, we rent the movie "Furious Five" because there is a section that teaches you some Kung Fu moves....

Doing "The Crane"

Tuesday, September 20, 2011


One day I opened the mailbox and found a letter from Emmy's neurologist.  I had been waiting for this paperwork even though I knew it wouldn't tell me much about Emmy's prognosis.  For some reason I NEEDED to know the genetic test results.  I all of a sudden wanted to become an expert in MECP2 mutations.  It must be a control thing.  I had no control over the fact that my little girl was slipping away and I needed control over something.

I opened the envelope and proceeded to read a report from the University of Chicago genetics lab that had run the test.  Ummm, what the *&)% is c.30_31delCG?  Having only touched on genetics in my college biology courses I was completely lost.  The whole report read as if it was in a foreign language. 

Let me back up a little.  In most cases of Rett Syndrome, girls have a mutation on a gene called MECP2.  For those as fuzzy as me on the topic...girls have two X chromosomes, boys have an X and a Y.  MECP2 is located on the X chromosome.  Girls with Rett have one X with a healthy MECP2 gene and one X with a mutated MECP2.  When boys have a mutated MECP2 gene on their X, they are much more severly affected.  Most do not survive.  That is because they don't have the back up copy of the healthy MECP2 gene.  When a girl is conceived and cells are multiplying something called X inactivation occurs.  In each cell in their body one X is shut off and one X stays on.  This accounts for the various severity levels in girls.  If a girl happens to have more of the non-mutated X's turned on, their symptoms are milder.  It is very difficult to test for X inactivation patterns because blood taken from your arm may not reflect what is going on in the central nervous system.  A girls mutation type doesn't necessarily tell you the course of the disease either, because of X inactivation. 

Basically, finding out the mutation type wasn't going to tell me anything but I still needed to know.

After a LONG conversation with a genetics counselor, I now know what c.30_31delCG means.  I'll try my best to describe it in simplest terms.  Take a piece of paper and draw a long line.  This is the MECP2 gene.  Along this gene there are hundreds of thousands of things called neucleotides.  The neucleotides are denoted by either an A, T, C or G.  Each gene has a different letter sequence but the letters need to be in a specific order for the body to read the gene correctly.  It's amazing stuff.  Well, on Em's gene the C that is supposed to be number 30  in the sequence and the G that is supposed to be number 31 are missing.  Because these two TINY little pieces are missing the body can't read the gene correctly.  Now, people have different letter sequences on their genes all the time without any problems.  As the geneticist put it, that's what makes people unique.  But girls with Rett happen to have these mutations in a very sensitive part of the gene.  I could keep going but I'll stop there.  My brain is starting to turn mushy as I re read this trying to determine if I'm explaining it clearly.

So there is the science lesson for the day.  The body is an amazing thing.  And, I've learned that even though I understand the genetics behind Rett Syndrome...I still have no control.  I have to just let go and enjoy the ride.

Wednesday, September 14, 2011

First Soccer Game!

Had to share these pictures of my sweet little Ava.  She absolutely loved playing her first soccer game this past Saturday...

With her little pals from preschool
At this age they all chase the ball at's hysterical

There's only one reason...

...this is in my house.  It's disgusting, horrible stuff.  I refuse to even look at the list of ingredients for fear I won't be able to pronounce any of them.  But, when I have morning sickness this is one of the only things that sounds good.  Some pretzels and good ol Fritos fake cheese dip.  I first discovered this in college, freshmen year at Harrison Hall.  I can't remember the name of the little store in the dorm that sold it but you could get all sorts of goodies down there.  I didn't ever think about it again until I was pregnant with Ava.  I was at Jewel and feeling so so so very sick to my stomach.  Nothing sounded good.  Then I strolled down the chip aisle and when I saw it I immediately grabbed it...something that looked appetizing!  Since then, every pregnancy, I had to have it in the house during those first nauseous weeks.

I am now past the 12 week mark and feeling great!  Went to the doctor yesterday and held my breath while she searched for the heartbeat.  But, she found it quickly and said it sounded strong, around 160 or so : )  John and I are so unbelievably happy to be having another baby.  I could care less if it's a boy or a girl, I just want healthy.  People say that all the time as kind of a passing statement.  I know I did.  I now pray for it every day.  I pray all those thousands of genes are all lining up, just the way they're supposed to.  I mean really, it's amazing there are so many functioning people walking around.  I've had 5 pregnancies, 2 children and 1 that's healthy...good gracious.  So, keep this little Foster family in your prayers and I'll keep you up to date on this HEALTHY pregnancy.


Wednesday, September 7, 2011


I started writing this long winded post about Em's ups and downs over the past months.  Every time I sat down to finish it I ended up in tears.  I guess this is all still too new.  The wound is still healing and I can't mess with the scab. 

Since I'm not able to share the downs right now I decided to just share the ups.  This past weekend we met a great group of families, all living in the Chicago area, and all with girls Em's age with RS.  They are an amazing group.  Unfortuantely I forgot my camera but don't know if I'd had time to take pictures anyway.  I wanted to just spend the time talking to these sweet girls, understanding how they operate.  I had a million questions for the other parents and could've listened to their stories forever.  Stories of heartbreak and hope.  They were our story too.

The evening with our new friends coupled with the long weekend with my husband home (ahhhh) allowed me to focus on the fact that there is so much for which to be thankful...
The beloved tire swing.

Look at that grip.  Look at that smile : )

Obstacle courses.

My faithful walking companion.
Sweet neighborhood kids raising money for Emmy's birthday fundraiser.

And, last but not at all least...Emmy going on the potty!!!!!!!!!!  I dragged the potty seat out of the basement the other morning.  I had not been excited about it because I figured it would be a long, difficult process.  It was after breakfast and Ava and I sat Em on the little potty.  She looked adorable sitting there.  We started reading her some books and then bam. poo poo.  We danced around and made a big deal about it.  We gave her potty presents.  She was so proud of herself!  She's been doing a fabulous job ever since.  Right now we just sit her on when she thinks she has to go.  Now, her telling us she has to go will be a whole other team to tackle.  But for now, this is just fine.

Thursday, September 1, 2011

First Days of School

Both girls have started school now which means I am childless from 9:20-11:50 each's so strange!  Ava started Kindergarten and Em started her first year of preschool.  They go to the same school and I drop them off and pick them up everyday.  I wasn't brave enough to send Em on the bus yet!  She's still my little peanut.  Ava loves Kindergarten...she was a little nervous the first day but warmed up quick.  Today is only Em's second day but so far so good.  I had a hard time dropping her off yesterday but she was all smiles when I went to get her and the teachers reported she had a great day!  I know preschool will be a wonderful thing for her, it's just been a hard process for me!
                                                    Ava working hard on her first project
                                                      Ava and her new K teacher.  Ava told me,
                                                      "mom, she's really good with kids!"
                                                      Back pack on and ready to go!

Monday, August 22, 2011

Gut Punched

It was Good Friday.  The day we sat in the neurologists office and heard about Rett Syndrome.  John said he saw my face go pale as I listened to the the doctor tell us the details.  I honestly don't remember what she said but I immediately told myself Emmy doesn't have this.  How could she?  She was making progress, right?  We went home, of course looked it up online and then wham.  Gut punched.  See I've never actually been punched in the gut.  I'm not the fighting type (I'm a non-confrontational pip squeak) but I did play soccer for many years when I was younger.  And there were a handful of times when a ball hit my stomach at full speed and knocked the wind out of me.  That feeling you get when you're on the ground, trying to catch your breath, that is how I felt on this Friday night.  I didn't have to wait until diagnosis day to know this is what Emmy was facing.  I then went into shock and panic mode.  I began reading EVERYTHING I could to help me understand this disease.  And I have to say the most valuable information I found was not on medical sites, it was on blogs.  Blogs that women had started to share their family's journey with Rett Syndrome.  I began devouring these blogs every free moment I had.  They helped me understand the different severity levels and what daily life might be like living with this craziness.  They helped me connect with others who were facing my same reality.  But  most of all they  helped me understand that LIFE GOES ON.  These people were still living and breathing and walking.  They were going on vacations, having more children and seemingly still enjoying life.  This gave me such hope.  I decided that when we got our official diagnosis I would start a blog so here I am.  I am not necessarily a picture taker, a techy or somebody who is good at recording the ins and outs of our lives but if I can help one newly diagnosed family in ANY way, then this is worth it.  There were many dark days when total strangers, moms I had met through reading their blogs, helped me like nobody else could have.  In fact, it was another Rett mom who had emailed me after the diagnosis and used the term 'gut punched' to describe the feeling you get when you realize this is real.  And so even though on that Good Friday a part of me died, I am slowly coming back to life.  I know I could not have gotten to this place without these women so I want to say THANK YOU!!!!  Thank you for sharing your struggles and your triumphs...your beautiful daughters with others.