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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.

Tuesday, March 22, 2011

irony?



It's taken me a loooooong time to really grasp the meaning of irony. Alanis Morissette really screwed it up for my generation with her song about it-but what she was actually singing about was really just murphy's law. It should have been called "Crappy" or "Sucky"-as in "like meeting the man of my dreams and meeting his beautiful wife-isnt that crappy? dont ya think?"
But irony is something else. It is still a lot of things I don't really understand, but one definition I get: an outcome of events contrary to what was or might have been expected.

Rett moms know irony. Because a lot of the time what we think might happen, actually turns out to be the opposite. Like this morning. Both kids had a dentist appointment. Avery is almost 5 and has never had her teeth cleaned. She has been to the dentist just never made it past the "happy visit" where they just sit you in the chair and show you the tools. She is already missing three teeth-two were knocked loose and out from falls. The third fell out last night-this time a bottom tooth and the Dentist said it looked like it really fell out because it was ready.

I made the appointment a few weeks ago -as of Jan 1 we finally have dental insurance, but had been dreading it ever since. I almost canceled. Even though they take kids with special needs and I had heard such wonderful things I was still freaked out. Lucky we have Avery's behavioral therapist and she came along. I arrived a few minutes prior so was on my own for a few minutes. They had me fill out forms that I had ready to turn in-but then of course I had to fill out some more. Avery was yelling by then already. We get called back right away and Im nervous because Kaitlyn hadnt arrived yet. Im sure Avery picked up on that and she got worse. We are in a tiny room and the hygienist is asking me questions that are ALREADY ON THE FORMS! Dont you hate that?

I see Kaitlyn come in and then ahhhhhhhh. The morning got better.

Nolan went first and was a total champ. She said no 2 year olds are that good! I was very proud of him!

We then got geared up for Avery. They had her sit in my lap facing me and then I layed her back onto a pad that was on the hygienists lap. She sat still. I held her arms but didn't really need to. She didn't cry, or scream. I think she might have bit the poor woman a few times but nothing too bad. Then the dentist came in. She is awesome. I could just tell right away. Then she told me she also has a child with special needs. She has 3 kids and one on the way. She is a rockstar. She said both kids teeth looked great. And that was it. We got our prizes, new brushes and balloons and then left. After I paid $341 (insurance? only covered $100!) but that is just fine because it was IRONIC. The exact opposite of what I expected actually happened.

Monday, March 21, 2011

missing

Avery is now missing three teeth. The milestone was lost, however, on the fact that she is also missing 23 nucleotides on her MECP2 gene. Even though Im still not sure if that tooth would have fallen out on its own or if it is due to her grinding, or a fall. Maybe the dentist tomorrow will have some insight?

There are just some days when I cannot handle much. Today I have been thinking about making a deal with the devil-and all I really want him to do is make Avery stop grinding her teeth. He doesnt even have to cure her, just make her stop grinding. Ill grow red horns and a tail and live with that the rest of my life. just. stop. grinding. your. teeth.

I have written about this before. Its the sound, coupled with the fact that I literally have super sonic hearing and am unable to tune anything out (except maybe Sports Center). It provokes a physiological response in me and I get mad at her, sometimes yell (ok, most times) at her to STOP. Even Nolan says it now. "Sissy, stop grinding!"-but he is much sweeter about it because thankfully I dont think he got the "can't stand annoying little noises/hears everything gene".

So by the time bath rolled around tonight, I was so wound up that I had gotten Avery a little upset as well. When she is anxious she hand mouths like crazy (she does it anyway-but it can get really bad). So in the bath, once I got her braces off-the hands went right in the mouth and out went that loose tooth. I didnt even notice. Till she cried. Then floodgates. Mine, not hers.

I still can't believe that I cant take the sound of her grinding. I suppose I still cant believe this is happening to our family. To Avery. To any kid. Any family. Not a single one of us deserves it. And then I think why her, why us, why ANYONE? And then I remember that it could be a LOT worse-and it is for many many people. And that just makes me feel so small.

I can't believe that I can sob like that in front of my children. And that my 2 year old has to say things like "you happy mommy?", and "dont be sad".

I apologized to Avery as she drifted off to sleep. while grinding her teeth.


Saturday, March 19, 2011

team little goose!

I have updated the "avery anne" video to go on my team little goose fundraising page. CLICK HERE to watch. then go to THIS PAGE to join my team or start your own!

Thursday, March 10, 2011

Attention! Negativity Ahead.



Nevermind. Scratch that. Reverse it. That was to be yesterdays post. Today was a whole new day. A day of tears accompanied with smiles. No tears accompanied with a loud sobbing “why?”. But, there were some tears after a Fancy Feast cat food commercial. Seriously this commercial is really sweet. But thats another post I suppose.


This is what my life is like now. Polar opposite emotions from one day to the next. Yesterday ~ Up early, bus comes at 7:15 (as opposed to 10:05 every other day of the week). It’s amazing how much tooth grinding one small child can do in less than an hour. And even more amazing how I let it get to me like it does. Let’s be honest: my nerves are shot. Shot nerves can’t take much. Get Avery on the bus after a major meltdown getting dressed-this happens most every time I dress her now. Tears and kicking and hitting. And more tears. I call an electrician to fix the breaker that won’t go back into place after I blew an outlet in the kitchen. Run to the gym. Run home. Electrician shows up, then Avery’s behavioral therapist shows up, along with the agency supervisor. Bus comes. Avery walks in CRYING. Nolan is trying to “help” the electrician. Im trying to calm Avery and keep Nolan out of electricians way. She calms down with her therapist, her paci and My Pal Violet. Electrician finishes up and was affordable. Phew. But I can still hear her grinding. Even in her room with her door closed. Therapist and supervisor leave, then case manager shows up. She is here because I have asked for more services due to the fact that Im quickly losing my mind with the constant noise and chaos. Our case manager is wonderful and totally gets it. Avery was in full effect for her too. Even made her jump a couple times with her screams. We are so lucky to have a good case manager who gets it and sees the need we have for the services they can provide. Basically we are hoping to get more respite. And I think we will get it. So thats a relief.


Once the case manager was gone, it was just the three of us. And Avery was on a roll grinding her teeth. I have heard it described as sounding like a cork being pulled out of a wine bottle-Im not sure I agree. But it’s annoying nonetheless. For Red, the screaming bothers him the most. The grinding takes the cake for me. So, by the time Red got home and I was getting the kids in the bath, I had had it. I can only put her in her room so many times. I can only grit my own teeth and count to 10 so many times before I blow. I cannot tune it out. It’s not in my DNA.


Luckily I had plans to go out with a friend last night for dinner and it was so nice to just be out of the house for a bit.


The thing that keeps getting to me is the wondering. Wondering who Avery would be if Rett didn’t have a hold on her. What would she tell me? What would she want to do, where would she want to go? I just want to talk with her-I want to know her. This lingered over me all day. It didnt help that I watched the montage I made of her. Always gets me.


But today! Today was good. There were tiny moments that I just enjoyed. My coffee. Catch with Nolan. Avery had a great morning session with her behavioral therapist, waited nicely for the bus, didn’t fight too hard getting dressed. I got a wonderful email from her PT at school saying that Avery walked the balance beam for four feet, something she has never done. Her teacher emailed me that she chose a green marker when asked and relayed a cute story about her holding hands on the playground with another little girl at her school. I bought a wireless printer and set it up-easily. I had a great workout-even though I did not feel like going. I got Avery some alphabet flash cards and she knows her letters. I saw her coloring. She stacked blocks. And there was pretty much zero tooth grinding!


I felt like a good mom today. Today. Ahhhhhh.

Wednesday, March 2, 2011

Spread the word to end the Word!

let's face it, Im lazy sometimes. who isnt every once in a while? today Im so lazy that instead of writing my own blog Im going to link you to an even better one. And if you think THIS POST is good, read the other ones. you'll dig it. Go read it now!