D Day

April 26th 2013 @ 1:16 pm.  That is the moment that my life changed forever.  At the time I felt that my world had been shattered and crushed beyond repair. One year later I know better...

The feeling of receiving a diagnosis like Rett Syndrome is indescribable, at least for me. I can remember so many details about that day. Where I was when the news came the reactions of my co-workers, and driving home but everything else is a blur. 

I was standing in front of a room full of 9th graders when my phone rang and the caller ID popped up with the geneticist's number. I had been carrying my phone around for weeks waiting for the call to come.  Luckily I share a classroom with a colleague and so she watched my room and I went into the hall.  

"Emma's results came back, she has Rett Syndrome. Sorry. We need you to come in right away, how about Monday?"  "Sure".  The caller told me the results like she was telling me that my fedex package had been delivered.  Seemed a little callous, but I suppose those calls are hard to make for them too.  No one wants to tell you that your child will never get better.

I never knew that your heart could actually hurt.  You always hear people say "heart broken", but I never knew a person could actually FEEL their heart break into millions of tiny prices.  I never knew your heart could actually break.  The crushing weight I felt in my chest was .... horrible.  I was unable to breathe and in unimaginable emotional pain.  It is amazing the way that the human body can manifest emotion.

The spectacle of a person in an emotional free fall I think freaked out my coworkers and they sent me home, immediately, and told me to take as much time as I needed.   Who wants to hang around a human puddle. 

I did not tell my husband right away, in fact I think he was one of the last people I told. I carried the burden of the diagnosis alone that day and instill feel like it was the right thing to do.  He was at C2E2 with his friends. It is one of his favorite events of the year and I knew he was having a great time.  It did not want to take that away from him.  Emma would still have Rett Syndrome later that evening.  I decided to let him enjoy his day, be carefree. 

I notified most everyone via text, I didn't want to talk about it.   My eloquently worded text..."Emma has rett". Responses went unanswered. I allowed myself to cry all the way back home but I pulled myself together and put away my tears before walking.  I didn't want to cry in front of my baby girl.  The rest of the weekend was a blur. I don't remember any of it, really. The only thing I remember is rocking Emma to sleep and telling her that it would be okay and that I would take care of her.  I am not sure if I was talking more to myself or her.

That Monday Emma's dad and I went into see the geneticist. I think my mind shutdown while he was talking ......R168x.... Classic.... Severe....grim prognosis.....something about a chick named Marie..... International Rett Syndrome Foundation (IRSF)......  I did NOT leave feeling better. 

I sat on the info he gave me for a few days and then started making calls.  There are few places I have been and few organizations that I have interacted with that are anything like the Rett Syndrome people.  They are organized to an almost neurotic level, it is amazing.  What other diagnosis comes complete with a 600 page welcome to our shitty club handbook!! (Not the actual name, FYI) I also called Marie, thank God as she turns out to be the Rett Wizard. If she doesn't know the answer she knows where to find it. I am lucky to have found an amazing number of families that I can turn to for help when I need it. Regardless of lifestyle differences, personality differences, where you are in the grieving cycle that particular day (yes, it can change daily) they are all available to help the girls.  At the end of the day it is all about the girls and personal differences are put aside in service of our daughters. I feel lucky, not everyone has that.

I remember being so afraid when Emma was diagnosed.  Everything I read confirmed the geneticist's doomsday prophecy.  I was terrified to attend the Stroll-a-thon, an annual Rett fundraiser and see all of the older girls.  I did not want to see the grim future I'd been promised by the doctor personified.  I didn't think I could take it.  As it turned out, it gave me hope. 

One year later the world is so different, the sun has emerged from behind the storm clouds.  There are still days when the sun seems hidden from view but I know it will return.  I am no longer a human puddle and no longer paralyzed by fear.  I am happy, my Emma is happy and our family is growing into our new life.  Some days are still hard, life can't always be rainbows, but we are okay.  I have hope I did not have that on April 26th 2013. 

I have hope. I have hope for Emma and all of her Rett sisters.  A cure is coming. 

Rett Syndrome: A Father's Words (+playlist)

Help Emma's little friend get there therapy she needs!!!!!

One Emma's fellow Rett girls is in need of a helping hand.  Please help this little girl continue her therapies while her parents overcome some unforeseen circumstances!


Need a helping hand | Medical Expenses - YouCaring.com

Trama-tober and nasty November

Just when you think that you have things under control, that you have a handle on what is going on and the gears seem to be turning nicely once again the Rett monsters show up and throw a nice big fat wrench into the gears.

October has been a crazy ride, one I'd really like to get off of now, thank you very much!  It started out pretty good really, looking back form where I am now standing.  Yeah sure, I was sad and a little down hearted thinking about what has been taken from Emma over the last year, it was hard not to think about it with it being Rett Syndrome Awareness month.  I had messages and posts blowing up my Facebook page and email daily as an incessant reminder of all that had changed.  

On the 21st of October things got scary.  I got a call at work from my husband, the occupational therapist and the pediatrician within minutes of each other (you know this is not going to be good news) saying that Emma had suffered multiple seizures within an hour.  It felt like my heart literally fell out of my chest.  I think I only felt heartache that deeply painful on the day that she was diagnosed with Rett Syndrome. I raced out of work, scaring all of my students most likely and drove home like a bat outta hell calling the pediatrician and neurologist as I drove home (on my bluetooth through my car stereo of course :))  She was admitted to the hospital and they started IV Keppra and did an EEG to see what was going on, they told me it could take several weeks to get things under control so I took a leave of absence from work for a month so that I could be there for my baby girl. They happened several more times and they were scary but they seemed to be getting under control, however, ever since the seizures started her puking returned.  Great. 

Then another 48 hour EEG.   :(

The EEG almost put a wretch in Halloween but we found away around it!

By the end of the month it seemed that her seizures were getting better, almost gone really.  Then we were in the waiting area of a doctors office and she had about 6 seizures in an hour.  Horrendous.  Then we went in to see the doctor and he told me that if I do not get her weight up by like 5 lbs in the next 6 months she was going to have to get a feeding tub inserted. Seriously?   I know that it is probably irrational but it terrifies me.  I have no idea why but I am horrified at the thought of a feeding tube.  Everyone says that its no big deal but I find it unimaginable.  SO, needless to say 6 seizures and a g-tube discussion later I was a hot mess when I left.  2 days later I went to the orthopedic doctor and he told me that she had a 37 degree curve in her back and that she needed to be braced immediately and that we were basically trying to buy time until she matured enough and then we'd end up with back surgery to fuse her spine.  WTF!!  This was a bit more than I could take and I had a bit of a break down all the way home.  

Seriously little girl, is there no bullet you can doge from the Rett Monsters?

THEN Emma had a massive seizure that knocked her right out and earned her a ride in an ambulance.  She was out for almost 6 hours straight and was in he pediatric ICU for several days.  She was reviewed by cardiology, had another EEG and then an MRI. Super fun.

 NOW, her seizure are changing.  She was having more absence seizures where she was just kind of passing out, now she is contorting and getting all twisted up when she has them.  Not a very pleasant way to see your daughter.

Nasty November is also a time to remember what you are thankful for...

I am so thankful for my beautiful little girl and that I get to see her beautiful face and gorgeous smile everyday. 

I am thankful that I get to hold her and hug her and kiss her cheeks each day.  

I am thankful that she is mine and no one else's.  

I am thankful that she is coming back to me, I can see it in her eyes.

I am also thankful for my wonderfully supportive friends and family.

I am also thankful for this little devil!

My beautiful girl .....

Sometimes I look at her and I am in awe of her spirit and just how beautiful she is ...  I love her so much more than I ever dreamed possible.

Emma goofing off in speech therapy

I am continually amazed at how brave she is ... 

she keeps standing on her own evern though she is terrified.  She is shaking so hard once you let go out of fear that you can visibly see it, yet she keeps trying  

Yay!  I stood all by my self for 1 whole minute!! 

She has my heart .... 

October ....

I have been crying a lot the last few days. I have been crying about the enormity of the task that my tiny sweet girl faces, for what was robbed from her, from us as a family, the stress it has put on our family and the countless other ways Rett has touched us. I think that October will always be a hard month.  It is Rett Syndrome awareness month and the Facebook pages are blowing up with all things Rett making it impossible to just go about the  business of living without thinking about Rett Syndrome and all of the things that it takes away when it finally decides to show itself.

I realized yesterday that by the end of this month a year ago I would be video taping and emailing the neurologist about a "weird hand thing" that Emma started to do in the next week or so.  Ironically Rett Syndrome had started to make it's self known during Rett Syndrome awareness month.  I wouldn't hear the words Rett Syndrome for another 3 months and then I wouldn't be told that it applied to my sweet baby girl for another 3 months after that .... I keep thinking about it.  I wonder if I would have changed anything for Emma if I had requested the test sooner, if I had known.  I doubt it would have made a difference. I am tripping over Rett Syndrome every time I turn around this month and yet last year, though I am sure the same diligent awareness work was going on, I heard not a peep of it.  Strange how the world changes.

It has been quite a wild ride this last year.  I feel like at this time last year I started to lose my daughter and that I was forced to stand by and watch helplessly as she vanished with amazing speed before my very eyes.  I don't even have the pictures up from the twins 2nd birthday.  I never consciously decided not to put them up, they just never got put up. I hate to admit it but I think they were simply too painful to look at and unconsciously I didn't want to see them.  The little girl in those pictures is not my Emma.  The girl in those pictures is trapped in some far away place where no one can reach her.

For the past several months I have been watching Emma reemerge.  I can see so much of the little girl I knew before this nightmare all started and I am so happy to have her back again.  I hope that she will stay awhile....  I love her so very much.

I am so happy to see your smiles and your spunk again. I love you Emma...

Chillin' at the zoo

Having fun at the park

Laughing at her Twin brother jumping on the bed

Laughing at daddy

All smiles for her favorite man

Fundraiser number one, is done!

                                      

Well, I have survived my very first fundraiser.  I have to say that I had a great time at the fundraiser and it wast hear warning to see so many of my friends and co-workers come out in support of my baby girl and Rett Syndrome.  I think that everything looked great and that we had some pretty great silent auction items and raffle items.  Our friends were fantastic and all took jobs at the fundraiser to help out.

 


We had a pretty great turnout.  I raised enough money to pay the lawyers to write up Emma's special needs trust so that my family and I will have a place that we can leave her money for her care should something happen to us.  I also made enough money to donate to research which make me feel good, like I am doing something that will help her and all the other beautiful girls just like her.

         

Emma's Biggest Fans

 

I am looking forward to doing this again and I hope that I can raise even more for research.  We are so close to finding if not a cure as least something that will improve the quality of our girls lives.

I learned a lot this year, like make the minimum bid sign bigger .... not sure how people missed that in 16 font....

Most of all I learned how many people care about my little girl and are willing to come out on a rainy Chicago night to support her.  I was so touched by everyone that came, it meant so much to me!