Thursday, July 17, 2014



because I dont want to sit around waiting...  i want to be IN this.  ALL in.
and because,

Tuesday, July 8, 2014


sometimes in the morning i go and snuggle with avery. those mornings are rare as she is usually already awake before anyone stomping around yelling in her room.

today i awoke to silence and crept in to see my birthday girl. how peaceful she was there in her bed with her new duvet cover (no more pink) -so cozy and so asleep.  i had stayed in bed a bit longer than i should have and we were running behind for summer school.  i tired to rouse her and nothing.  she just shifted ever so slightly and kept her hands still and her eyes closed.  i whispered to her "happy birthday goose" and let her stay.

i went to get nolan up and got my coffee and went back in to her.  still so at peace and after one more failed attempt to wake her i decided to get in the covers with her.  we could be late today.

nolan then came in so excited for her big day started to shake her and yell happy birthday! she opened her eyes and as the happy birthday wishes started to settle in she smiled so sweetly.  a dimple popped when i mentioned we would open some presents tonight and have a family dinner celebration with cake on sunday.

i cant believe she is eight. i love watching her grow up.  i love being able to still see that newborn face that has changed so much but really hasnt changed at all. here i sit on this same couch the night before she was born and many days and nights after with her on my lap (time for a new couch) and can see so clearly all that she has been through.  all that we have watched slip away and the triumphs she has shared with us. but,  i can now look back and see more good than bad.

and has been over 5 years since i have heard avery say "mommy". i have no idea if she loves the new duvet cover or wants the old one back or if she even cares. i cant tell you if she has a favorite tv show or if she is dying to go to a movie. i want to know her better, know her secrets and wishes and hear her tell me im annoying or that im embarrassing.

one day.

for now, she is eight. and ill take the morning snuggles, the smiles and the dimples. forever.

Tuesday, July 1, 2014

#rettconference2014 (or was it #conference2014? or #rettsyndrome2014?)

five years ago red and i went to our first family conference put on by IRSF. we were 6 months into this rett thing and literally knew like 2 people. we sat in the way back of the ballroom in colorado springs and listened attentively and took diligent notes and couldnt believe this was our life.

last night i got home from my 5th conference. where i felt as though i knew nearly everyone i saw and only sat up front. my note taking was a little sparse but the knowing head nods and tears that start in your throat and fly out of your eyes were many.

five years ago i listened to dr. percy talk about rett syndrome 101. i heard him speak about the types of things they were "looking into" as treatments for symptoms of rett.  i heard a lot of "rett was reversed in a mouse but mice are very different than humans".  i heard hope-and could reach for it.

this year was different.  i heard dr percy speak about rett.  i heard him speak about how far we have come so quickly. i saw the tears well up in his eyes as he thought about Dr Rett and the smile he might have on his face if he were here to see where we have come.  (when i say "we" I mean the researchers/doctors/scientists etc!).

as the universe (or fate or destiny or whatever you choose) would have it, just as the scientific portion of the conference merged into the family portion, neuren pharmaceuticals announced that enrollment had been completed for the NNZ-2566 trial.  and on the surface that seems like incredible news-as it is.  but it gets better.  it was just TWO years ago when I wrote about the conference highlights in New Orleans.  When larry glass (CEO of Neuren) spoke to me and said "not maybe, WHEN",  and when he spoke at our tribute dinner and exclaimed "im in!" When CSO of closed the conference with "my pledge to you, it will be done fast".

two short years ago. remember my "vision"?  the one where Avery is a typical 10 year old?  she will be 10 in two short years. 

so my trip started late at SFO. i stopped at the restaurant for a burger and was seated at the same table where colleen and i sat on our way to conference in boston.  i took it as a sign that things would be good.  and they were. lucky for me even though i was in the middle seat for a red eye, my wine was free bc the seat ordering feature was broken.  i also bought one of those totally geeky neck pillow things. i slept for about zero minutes on the shortest 4hour: 45min  flight ever. i arrived at the hotel early.  like 6:45am. and my good friend kori (she is cure rett) from across the pond was awake so I stormed her room and ended up staying there the rest of the time and Im sure I now owe her at least 467 dollars.

from there it gets a little blurry...there was sightseeing (white house and many DC bars), meals and drinks at wellingtons, running into friends in the lobby, buffet meals, breakfast with a super smart researcher, hugs, laughs and tears.  we heard the author of "welcome to holland" emily perl kingsley, speak about her life bringing light to disability to sesame street and her journey with her son who has down syndrome. the sessions were amazing, the table for clinic and our new brochures was perfect and the rettland foundation table was there too.  there were lillie pads and snap wraps. and tons of cute little girls.  there were interviews and photo shoots. 

then it was time for the tribute dinner which is always so special. this year we joined with the CDKL5 families which made it even more special.  the tribute video was 16 minutes long! awards were given out, we were introduced to some of the "first timers"-those that were there 30 years ago when this all started. parents that paved the way-without the internet, without much to hope for and they are still standing. and lookin good. sitting at the table next to us was a family from san francisco who had a daughter with cdkl5-i was able to tell them about our clinic. that was cool.

on saturday the highlight was the sibling panel.  i go to this against my better judgement-it is bittersweet to hear a rett/cdkl5 sibling talk so openly in front of so many about their deepest thoughts. oh the things they said. the tears and the laughs they caused. they were so honest and real and funny and wow.

saturday was a pj, dessert and wine in bed night.  until our neighbor knocked on our door.  her sweet daughter was doing something odd that she had never seen before.  i was able to call dr jones and get her to come check her out.  this was at 11:30pm.  they administered rescue meds after determining it was seizure activity but it wasnt seeming to work. we needed to get her additional rescue meds just in case and a text here and a call there and we had it.  this family is amazing.

and as if it couldnt get any better, i finished up by having breakfast with dr mary and kori then lunch with mary paige and judy. all rett rockstars.

then i got picked up by sheri-my bff from college and her three cute and adorable kids.  i havent seen her in 7 years and as ridiculous as that is, its like no time has passed at all.  we had great chats and i so loved getting to know her sweet kids. even though i wish i had more time,  it was just about 24 hours and it was perfect.

five years ago i thought how is this my life?  now i think how is this my life....but it has a whole new meaning.
colleen, dr mary, lauren, sherri, shannon, kori, jane, jesse, me, dr percy, chris, 

kori, jackie, carrie, me, lisa and grant

me, kori, sherri and lauren if front of the white house in da capital.

sightseeing includes bars 

me, baby eva and my sheri

fran, me and kori

tribute dinner

rett racers reunite.