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!

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.

 

Fundraisers

So.... I'm hosting my very first fundraiser. I don't even know what to say after that....

I am losing my fracking mind trying to do this!! Who knew it would be so stressful! It's not like a birthday party where you have it at your house and pretty much know who's gonna show up. Nope, I am paying for a space and food hoping to God that at least our birthday party regulars come. I am not sure I am gonna break even let alone make enough to pay for the lawyers we need to set up her accounts, pay for therapy after early intervention ends or buy her equipment that she needs! 

I was also informed that you generally have raffles and whatnot at these shindigs. How do you know what the heck people will want? How do you get the stuff to raffle off? My fabulous sister-in-law donated a pair of Notre Dame vs. NAVY tickets, will people like those? Will they like any of the other stuff? Who knows! STRESS! That's the word of the day! Luckily my husband is uber helpful. He keeps telling me that I should have an open bar because no one will come if we don't have an open bar! Thanks for your help! I love ya, but please, stop talking babe!!  So, needless to say, I'm worried. I don't want this to be a flop. I'd love it to be something that grows and one day can not only help my daughter and provide some money to research but significantly help several girls and their families as well as research. I know there are other girls out there that may not have much of why they need. I'd love to be able to change that. However, right now I am hoping that I won't be doing dishes at this place for the rest of my life to pay off the bill!! 

I'd really love to be able to get enough donations to make a nice contribution to the International Rett Syndrome Foundation. I plan to donate something, even if it is a small amount, but I'd like to give a nice donation. I am so excited about the research that they are funding. A paper was published recently that once again proved that the symptoms of Rett can be reversed in our girls!! Using gene therapy they were able to increase MECP2 production by 15% and reverse or significantly reduce the symptoms in fully symptomatic female mice. How exciting is that!! I am so hopeful and pray to God that the cure comes soon. 

2,480 miles later

My belief in the medical field is almost nonexistent at this point.  We took Emma to the Rett Syndrome clinic in Minnesota it was a wonderful experience.  The people that work there are wonderful and the doctors were fantastic.  

I brought with me the medical records, x-rays and reports from her regular doctors office in Illinois.  They reviewed the records and x-rays.  When they put up the x-ray of her back I about died.   I must have looked like I felt because the doctor in Minnesota looked at me and said "oh, is this the first time you are seeing this?"  Why yes, yes it was. EVEN I COULD SEE the CURVE in her SPINE!!  Seriously!  These were the records I brought with me, taken months before!! I was floored, I almost burst into flames in her office.  It was all I could do to contain my self and not completely spaz out in front of an office full of people.  I can see the headline now "Psycho Mom Freaks Out in Children's Hospital".  

Between the doctors who told me: 

• "95% sure she did not have Rett": her developmental pediatrician  (oops, she does), 
• her GI doctor that treated me like I was a hysterical mother and then LIED about referring me to the lab causing my insurance to come after me  (the file later showed him to be full of crap), 
• the on call ER doctor that blew me off and told me not to come in when I told her Emma was puking and lethargic by responding "its night time, babies are supposed to be lethargic (Emma was hospitalized the next morning for 4 days she was so dehydrated they almost had to shove the IV in her neck), 
• pediatricians who told me I was over reacting and that "all children develop differently" 
• Physiatrists that miss curves of the spine

I don't know why anyone listens or trust anything these people say!  It seems to me that if you have a need beyond the common cold or a an immunization you are screwed!!  

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 ❤

The journey home.

Today was day one in my voyage home, 840 miles with 2 year old twins all by myself.  I MUST be insane.

Emma barfed all over herself 3x before we made it an hour, needless to say I ran out of emergency outfits. Okay, no problem, I'll clean you up when we get to the lunch stop, AKA the busiest McDonalds on the planet. There were 3 bus loads of boys scouts at the place in addition to what appears to be half of the soldiers from the nearby army base. There was literally a line almost out the door of the McDonalds! Crazy. 

I have to say, that being on a restaurant filled to the brim with Boy Scouts and soldiers I had no problems getting my unwieldy double stroller around the place, what a helpful bunch! 

After cleaning Emma up and spending a lifetime in line we got our food and all was well, babies were eating, no one was covered in barf, no crying, no whining  ... Parental bliss... 

Then I hear "mommy look at me, hahaha" and I look over and see my son dump chocolate milk on his face, probably half the container! Covering himself and thinking he's the funniest person on earth.... devil.  Back to the bathroom for another hose down and wardrobe change!

The rest of the ride when well, Emma got a little cranky. Every time she started crying I gave her a fruit snack,

It was like a anti-crying magic candy..... or it gave her a sugar high.... either way she stopped crying and was in a great mood for the rest of the trip and tonight in the hotel. 

All in all I'd say it when pretty good, most people were concerned about me traveling alone and it being harder because of Emma's disability but I have to say that I think she did great, she's a wonderful little traveler. I'd say my twins were no different in terms of their traveling tolerance. 

 Tomorrow we start leg two of our journey.... 

Emma & Manny miss their grandpa already!!  Love ya dad!

You're lucky that I fear prison...

I have been on a wonderful 22 day long hiatus visiting my family in NY.  My great grandfather passed many years ago and I have not been to his home since his passing and hearing that it might be sold soon by my great aunt I wanted to visit a beloved place from my youth before it is gone.

There is a reason that no NO ONE really goes there anymore ..... my super psycho great aunt!

I knew she was crazy before we went there, she has always been a complete wack job.  Wack job might be putting it mildly....... Ummmm, can't think of a more suitable adjictive. Raging lunatic?... Nope, not strong enough, anyway ... she has never met my daughter before and she has no idea what Rett Syndrome is, an ignorance I can readily forgive as I did not know what it was six months ago either.

However, this nut all of a sudden started telling me what a burden she was going to be to me and how she is a life time, 24/7 job and that I better get an abortion if I get my self pregnant again because its gonna cost money ... Blah, blah, blah, blah.  Over and over and over again she went on and on for what felt like forever! It was crazy, SHE is crazy.  If she wasn't related and older than dirt I might have gone crazy myself and given a slap upside the head.  I doubt it would have done a bit of good since she is super crazy. What can ya do...

Life goes on....

Emma and the new friend she acquired this trip! 

Sibling Love!