rettsyndrome.org

Image Map

Saturday, March 29, 2014

kinda like a second pregnancy

you know when you get pregnant for the first time and you are all excited and writing everything down and checking websites to see how big your baby is day by day? and you cant wait for people to ask you how far along you are and how you are feeling and are you finding out if its a boy or a girl?

and then you get pregnant the second time and you do none of that? and want none of those questions? and you just want the baby OUT!?

its the same thing when you decide to train for a marathon, and then train for that same marathon the next year.

last year I carried the book that contained my training program everywhere i went.  making sure i was checking off all my workouts and runs exactly as planned.  this year that book lies untouched on my dresser. I did make a calendar with my workouts on it but im definitely not following it with the same kind of fervor as last year.

last year i wanted to talk about it all the time.  to tell people about my runs, my sprints, (okay, maybe i never really did sprints) my mileage. i wanted to tell people how sore i was and talk about shot blocks and hydration.

last year I was so into the process and PETRIFIED for the race.  out of my mind nervous.  exactly how i was when i was pregnant with Avery. consumed with the process and terrified of actually giving birth.

i run into people now and they all want to know "how is training?" and I have to fight the urge to groan.  but the truth is I just want this part to be over.  i want it to be race day, go time.  im OVER carrying this baby!!  so over it!
i mean, I am supposed to run TWENTY miles. TWENTY.  i did this last time!!!!  i dont wanna!!!!!

i just want this baby OUT!!!!!!

in less whine worthy news-team rett 2014 has raised $121,726 SO FAR.  Just about to surpass last year. and Im so proud of all of us-whether its our second, third or first!   counting down the moments until i get to walk up to that start line and get going.

Tuesday, March 18, 2014

made it

i made it through the weekend of the NHS study.  barely.  but that is a story for another time. let's just say it was just like every other NHS with a little extra added flair.

it was a special weekend though.  the last time we would all be together like that. we started bringing avery in March 2010.  i started coordinating it in 2012.  now its 2014 and it is over.  looking back on 2010 we were so new. so eager to participate and knew about 3 people in the rett family.  now, i feel like i have a friendship with nearly every parent. i call many of these people very close friends. and im so glad to be a part of it.

it is hard to explain how easy and comfortable it is to be around this "family".  easy really is the best way to explain it. we look out for each other and take care of each other and anticipate each others' kids needs.

i ran myself ragged and celebrated a little too much saturday night.  but my family was there for me. amazing support. it is hard for me to fill so many roles all in one weekend-coordinator, regional rep, mom, wife, friend...it is a delicate balance. especially when it feels so easy at the same time.  im not making much sense...

but, a lot of good is happening.  a lot.

i was asked to be on the board of a new foundation started by colleen who is a good friend and rett mom.  she is insanely awesome.  and she and i have grown a ton on this journey together.  we dont even recognize ourselves anymore.  she had a wonderful idea-to help ease the financial burden for families who are willing to participate in rett trials.  (do you know how cool it is that I can say trialS-plural? )  the fact that there are two large clinical trials going on right now but they are having trouble filling them really bugged her.  so she did something about it.

she started raising money, then decided to start a nonprofit (which is not easy) and then asked me to be on the board.  we have had three board meetings all via google hangouts.  it feels great.  im basically her cheerleader-she calls me and says "i have this idea" and I say "that sounds fabulous"! and then she calls hotels and books rooms and pays for them with money that has been raised and wow. we have helped several families already.  currently we are helping families with their hotel costs for the screening visits for the NNZ-2566 trial but we hope to expand to the igf1 trial as well.  colleen and her daughter claire are setting the best example.  they have just returned from boston for their screening visit. and im so proud of them, so grateful.

speaking of the igf1 trial-a paper was just published showing the success of phase one of that trial.  it was shown to be safe and efficacious.  its amazing.

last sunday my old friend Tara, ran her first marathon in honor of my goose.  and she didnt just run a marathon, she ran an 8K the day before and she was an official rett racer-she has raised $750 so far for IRSF. and she crushed her goal time. and she did it with avery written on her hand. did i mention that i havent seen Tara since maybe 1992? and that it is only through facebook that we even are in touch? amazing.

that same day a badass dad in illiinois finished a 5 day 150 mile run across illinois for his daughter cammy and IRSF.  video updates and pictures and everything about all of it made me cry.

and in between all of that we have had some really great times that are not rett related... dinners with new friends, nolans rehearsals, baseball, playgroups, great weather, avery using her device a ton...

dont get me wrong, there is still terrible.  screaming, hand mouthing, daily stresses, diapers for a 7 year old, girls in and out of the hospital, feeding tubes etc...

but there is light, lots of it, at the end of this tunnel and we are barreling towards that end. and so far we have made it.

Wednesday, March 5, 2014

so much

so so much is going on.
this weekend will be the 5th natural history study that i have coordinated.
every 6 months for the past 8 or 9 years amazing teams of researchers have flown to oakland (and several other sites over the us) to collect data from girls with rett and their families.
this means a schedule over two days of about 60-75 families with three different research teams, lunches and tables and reservations, rooms blocks, buffets, slideshows, microphones, coolers, fliers, nametags....the list goes on and on.  plus clinic on friday.
it also means ill be working pretty much all weekend-going going going-all weekend. answering questions, putting out fires, running around in circles.
im feeling pretty relaxed about it now that this is my 5th time.  but then i feel like i must be missing something if i feel so relaxed. but it always works out. tomorrow ill scramble around my office getting everything done and ill stress and ill worry and it will all work out fine.

nolan has started baseball and also rehearsals for a little variety show group called Star Quest.  he has rehearsals every sunday and the show will be the 26th and 27th of april.  he is just in the background cast and who knows if he will really take to it or not-but it is fun and im super excited to see the show.  i saw some of the first rehearsal and these kids who have been doing it forever are talented!

baseball is a big deal. Red is helping coach Nolan's team (red sox!) which he loves. but we just got the game schedule and there are 22 games! some weekends its friday night, sat and sun!  this is our first foray into extra curricular activities and wow, it is intense.

but for now this weekend is all i can think about.  how awesome it will be to see so many rett families all under one roof-all making a difference, all making history.  im still in awe of the research teams and how lucky i am that i get to email them and ask them things and help them out. it will also be a little sad as this is the last time this will happen in oakland.  it is many families' only chance to be around so many other families that are just like them. a place where no one is annoyed by your child's noises or quirks.  a place where other parents have just as quick of reflexes as you do when your kid goes for the front door. i know by sunday ill be toast.  but i also know that i get to go to dinner with the research teams and thank them for all they have done-for dedicating their careers to our girls, my girl, our family.  to thank them for it all-so so much.