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Monday, March 28, 2011

what a weekend.




This weekend was the NIH Natural History Study at Children's Hospital in Oakland. We enrolled Avery in the study once she was diagnosed and had our first appointment one year ago. Several Rett experts travel all over the country on 8 weekends to see nearly 1000 girls and women and luckily one of the locations is 20 minutes away. The group of experts can just be summed up as "badass". One of them, Dr. Percy is so badass that I have been for the past 3 times too scared to say hello. Starstruck. More on that later.

This was our third visit-we get to go every six months. It marked one year since meeting Maren and her family-if you take a look at her blog HERE you'll see that she brings a camera everywhere and actually takes pictures to memorialize moments like this one. Above is our 1st anniversary picture. Cute, huh? Minus my "mom hair". Maren is a lot cooler than me (obviously with the whole remembering to take pictures thing) so she doesnt have mom hair. This is just one of her many fantastic qualities. Im lucky that our paths crossed, even if it was in an unlucky way.

If I were anywhere near as cool as Maren, I would have had a camera (more than my iphone) and would have gotten pictures with many of the other cool moms (and Dads) that have become a part of my family over the past year and a half. I did get this cute pic of the daughter of one of those moms and dads. Here is cute Chloe who I got to watch while her sister Claire was being seen.
Being at the study is a strangely comforting thing. Its strange because none of us want to be there-but once there we are comforted because we are with our family.

This time was a little different as I was no longer just a rett mommy, but also the newest IRSF regional rep in California. I tried my best to introduce myself to as many parents as possible-and I met so many new people! I even met the family that helped researchers discover the gene back in 1999. Short story: A woman has two daughters-one turns out to have Rett, the other is a slightly learning disabled but grows up to marry and have her own children. As her first child (a girl) starts to develop, they notice she is behind and having some of the same symptoms as the moms sister did when she was little. They discover that the baby also has Rett-they test her mom (the one with the learning disabilities) and find that she too has Rett syndrome with favorable X-inactivation! She then has a son-yep, he had Rett too but didn't live much longer than a year. This family was the key that helped researchers zero in and find the MECP2 gene where Rett occurs. amazing.

Saturday I mixed and mingled and tried to get people to register for the Strollathon. By the end of the day I was exhausted-and I hadn't really done anything! Sunday we had Avery's appointment with Dr. Skinner-a geneticist from South Carolina. We were assigned to him and we love him. Pretty much besides the Rett syndrome, Avery is doing really well. We got a new EKG (girls with RS are susceptible to a heart issue called prolonged QT syndrome which can be very scary) and the girls who administered the test were amazing. We played Avery's favorite bus video on the iphone while they attached the leads and did the test. She did awesome. And her heart looks good. Phew.

Then, drumroll please.....Dr. Mary introduced me to Dr. Percy. He had seen video of Avery and has consulted with Dr. Mary about medications etc. Mary really wanted him to see Avery in person-it was a brief meeting but it was pretty cool. Red was bummed to miss it, but he was busy chasing Nolan all over and the meeting was REALLY brief.

Later on, I got to see a very special family. Amanda and her mom Alice. Amanda was one of my clients way back when I first starting working as a case manager. Still gives me the chills to think about it because I remember vividly taking her file out on my first day and reading about Rett syndrome. It was nine and a half years ago. Funny how life works out.
Here I am with Amanda (she is 24yrs old) and her amazing mom Alice.


It always amazes me that there are so many people that care about rett syndrome and are working towards fixing it. From the badass experts, the moms and dads, to the teenage volunteers and everyone in between-it just blows me away. Im super grateful to all of you -especially to the parents, the ones who drive over from nearby cities and even better the ones who get on planes and make it happen. what a weekend.

4 comments:

Colleen said...

Chloe's parents sure are lucky to have people like you watch her so they can absorb all that Dr. Percy is and says. You should have taken her home with you, Nolan would have loved that!

Em said...

I am emailing Dr. Percy now...I wanted him to meet Avery!!!!! We seem him too and I love him and Jane!!!!!

And I love how you say, when we all get together there is something comforting....I miss my girls who are experiencing the same journey in life as me and I can't wait to see you all at conference!!!!

Hugs!

Catriona said...

Oh dear - I think I have mom-hair. I'm certain of it. Along with all the other mom-things. How did this happen??

You are so lucky to have the opportunity to see all those specialists. It sounds great - actually it sounds like a bit of a party with all the other families!

Have a great trip this weekend. Realised today that I will see you NEXT MONTH!! xxx

JourneyBeyondSurvival said...

I have mom hair, mom jeans, and mom other things...that aren't even as pleasant as those!

You are doing a great service to this community that you have embraced, albeit preferring everyone to be elsewhere. You are-I confess-heroic to this rett mom. We head to Chicago next weekend.