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 .... 

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" 

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 ❤