Saturday, March 13, 2010

rett syndrome natural history study

on saturday, march 13th we were able to go up to the children's hospital in oakland to be a part of the national institute of health's natural history study for rett syndrome. leah will be followed twice a year until she is 6 and then every year after that as part of rs research.
i have to admit, i was a bit nervous {siblings read: alagonchy} to go. i knew we'd meet other little girls with rett syndrome and i wasn't sure how i would react. i knew leah was on the high functioning side of this monster and i didn't know if that would make me feel like a wuss for complaining at all, nervous that she'd keep digressing, relieved to not be alone, happy to have support, or a gazillion other feelings.

and it made me feel all of them at once! wow.

but...i'm glad we went.

we saw more cool strollers than you could even imagine. good ideas for what we might need in the future for travel, etc. we met people from all over the country, mostly the west. even a super nice lady named joey with a daughter named jade who live right near my family cabin in washington and go fishing at lake merwin. small world.
leah was seen by dr. glaze from the blue bird circle rett center at the baylor college of medicine. imagine your grandpa {the nice, jolly, funny one...} with a super dry sense of humor who is super smart about something you know nothing about. that's dr. glaze. i really liked him. he basically asked us questions we've been asked and given answers to probably 357 times from medical professionals, but i guess he needed a baseline. he assured us leah was quite high functioning and answered some of the questions we had about day-to-day life {yes, it is okay to get mad at her for biting; yes, she can learn to be time-trained when it comes to the potty; yes, she is still cute}.
at one point, leah started her heavy breathing regimen for the day and, without missing a beat, dr. glaze said, "i seem to have that effect on women."

yup, dr. glaze is a keeper.

before we went in, i was feeding leah some apples in the waiting room and paige, the director of family support for the irsf and the mother who started katie's clinic where leah has been seen, told me there was another family she wanted us to meet. they had a little girl just a few months older than leah who had also received their diagnosis last fall. i didn't think much about it because i had seen probably 20 other girls thus far and none of them really reminded me of leah or what she, specifically, was going though.

that's when avery came up and started eating our apples.

i could have died. the girl was cuter than life itself with dimples that just did not stop. she was like a brown-haired leah. her mannerisms were similar and she was equally as mobile {read: did not stop moving}. avery's mom came quickly behind, apologizing for eating our apples. i noticed she was wearing a drape cardigan with a scarf and ruffle shoes. i had that outfit on before we left, but changed last minute. i kept the ruffle shoes. then her husband came around the corner. his name was ryan.

not to be creepy, but i have a feeling it was meant to be. they live locally and we have a play date with them next month. i love all of leah's friends, and i love all of my friends, but i'm excited to have a friend that knows what i'm going though and for leah to have a friend that won't make me sad every time i see them doing something she's not...and would be, if only...

back to the study.

we also saw a dietician who helped me figure out what leah needs more and less of. in a nutshell, she needs carnitine, more vitamin d and she needs to gain some weight...preferably muscle weight. right, like her abs aren't already desirable enough. now she has to go and have better legs and arms than me?

i met another mother of a 21-year-old girl with rs. they only found the gene about 10 years ago. this poor family went undiagnosed until annie was nine. NINE YEARS OLD. i cannot even imagine the daily and nightly torture they went through. the mom was really sweet and offered to help me with ieps and other things that are indefinitely in our future. she also offered some great familial advice. it was nice to see people who have made it that far and have survived. some days i'm just not so sure.

we also met THE katie from katie's clinic. i'd met her mom and her grandma before, but never katie. she's a cutie. and we're so grateful for the clinic she and her family created.

afterward, they had some entertainment from the hospital and katie's clinic staff as well as lunch. i didn't really realize that there were other things going on, so we had to leave before we heard the panel discuss all sorts of topics. next time.overall, it was a great experience and we're excited for the next installment in october.


megan said...

What a good thing to be apart of...I think it is so important to know you are not going through this alone. That is great you were able to meet someone else in similar circumstances. Leah is such a doll!

Molly said...

I am SO happy you met another couple with a girl like Leah! It is so important to have other people in the same stage of life as you. SO important.

nicole said...

that sounds fantastic! thanks for all the updates! :)

Erica said...

Maren, you made my morning reading this. especially the comment about my outfit :) we are super excited to hang with you guys and Im so glad we didnt creep you out by bombarding you and eating all your apples.

Jenny said...

What a blessing to be able to take part in that study and to meet other families going through the same thing. I'm so happy that this is turning out to be a really good thing.