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

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!

GI Doctor do-over

I find it hard to believe that any where on earth could suck more than this particular doctors office.  The first guy I saw treated me like a hysterical mother and ignored my concerns.  The last time I went to this office he kept me waiting over an hour and then sent me to the lab to get Emma tested for a gluten allergy, I asked if I needed a referral and he said "no, because I'm sending you".  Then when the insurance rejected the claim stating that I needed a ..... wait for it.... a F#$&* REFERRAL... he denied ever sending me to the lab and never returned my phone calls.  Jerk.

Why on earth would I go back there you ask? I'll give you a three letter explanation, H.M.O. This is our in network spot, fabulous. I can hardly wait to switch to a PPO. This time was almost as stellar as the last time. I had to wait an hour and twenty minutes in a microscopic, featureless, toy less, non-child friendly room (keep in mind we are at a CHILDREN's hospital). They had 2 patients scheduled for the same doctor at the exact same time. How completely obnoxious and unforgivably inconsiderate! Your right, I couldn't possibly have anything to do other than sit around and wait for you to grace me with your presence. Needless to say the GI do-over was less than sucessful. I am somewhat amused by the shock to my less than cordial greeting. The doctor came in I smiling and perky "Hi! How we doing !". Me: "we are great! I love being forced to wait over an hour for people" 

EEG Número Dos

We are all still recovering from our second round of EEG. This one was better,and worse, than the last time in some ways.

It was not 48 hours long like last time,thank god. So Emma didn't have to walk around with all those wires glued to her head, we didn't have to plug her in to the infrared camera during meals, naps and bedtime and she didn't have to carry around a battery pack and recording device secured to her waist.

This time her EEG was only an hour, yay! But she had to be sleep deprived, wait, what! Boo! That sucked!! The saying "don't wake a sleeping baby" exists for a reason, they HATE it. 

She was mad when Manny & I yanked her from her peaceful slumber at 2am, but recovered fairly quickly and was slap happy until about 4am. At 4am she was finished with our shenanigans and wanted to go to sleep. We spent the next two hours passing her back and forth deploying various keep the baby awake methods while she cried and loudly expressed her displeasure with our behavior. 

We got her to the hospital and they quickly applied the electrodes and thankfully they turned off all the lights and she was allowed to go to sleep. I got a little upset sitting in the dark holding her tiny little hand as she slept, thinking about all the things she had to endure so far in her 2 years of life and how unfair it all is.

The hour passed pretty quickly and unfortunately for Emma they wanted to evaluate how her brain would react to strobe lights so she was awoken to obnoxiously bright flashing lights. Poor baby 😩 

After a few minutes it was over and she was unhooked and we went home. The sleep deprivation threw her off for the rest of the day. She threw up as we left and a few other times that day. She she is getting back on track now and we are praying that the results will come back this week free of seizures.

 

1,680 miles later...

My summer has been such a whirlwind that I really don't know where to begin! I have spent the entire summer crisscrossing the United States for various reasons dragging my precious babies with me!! Thank God they are good travelers, well, mostly.

First we were in NY, as I mentioned before. Some parts were hard but the trip was mostly great.

One thing that sucked was people telling me that "she'll grow out of it and be just fine". Ummm, no. You can't grow outta Rett.

 People also talked about all the things that she'll do when she is older, things that typical children do and that is hard for me to deal with. I know that they just are being hopeful and optimistic... I think, who knows maybe it makes them feel better. However, as much as I want to believe that there will be a treatment soon and that she will be able to do more things and have more opportunities it is a quite hope that I keep close to my heart and don't let it run around unchecked.

I HAVE to keep it in check so that I can live in the reality of today and the daily grind of doctors and therapists and sensory diets and cutting up food into bite sized pieces and worrying bout her weight and worrying that I not paying enough attention to her brother and finding ways to pay for therapy. 

I have to find a routine, some kind of normalcy and comfort in my life that isn't tied to how I thought it would all work out. I would hate my life if I lived all the time talking and thinking about how I hope things will be different later. I can't even imagine how Emma would feel if I spent all my time around her talking about how I hope she will be different later!

Nope, I choose to except our life together as it is and to just enjoy her just the way she is beautiful, sweet and full of life.

I do desperately hope someday that someday soon there is a treatment while she is still young so she can some semblance of the childhood I hoped for her, and that someday there is a cure. This hope drives my participation in fundraisers like the stroll-a-thon and my own fundraiser that I am working on to help fund research. It is even tempting me to join one of those marathon training things so I can get in shape and possibly join the Rett Racers and believe me, THAT is some powerful hope right there! The only other thing that would get me to run a half or full marathon would be if I were being chased by a hungry Bengal tiger and even then I might say screw it and quit!! I digress... so I do have hope, and I am optimistic but I have to live in the now, otherwise I think that I would spend each day heartbroken and miss the joy of seeing her smile and hearing her laugh and watching her with her brother, whom she clearly adores ❤