rettsyndrome.org

Monday, May 7, 2018

This is Rett

These days, I rarely lament what has been lost. We have kind of gotten into a groove and are just "used to" this life now.  We have experienced enough that we aren't afraid anymore of trying new things with her, venturing out to what might have been scary places. 
I finished a book on the plane Friday that brought hot fast tears to my cheeks. 
I started reading this book at least 6 months ago, and Ill go ahead an blame my kindle for the lag in finishing.  I tend to forget what books I have purchased and are on the damn thing! It's also because I'm too tired or too busy most nights to nestle in and read. 
Anyway.  On a girls trip to Arizona in November, I finished an amazing book called It's Not Yet Dark, a beautiful memoir written via eye gaze by a man with a disease related to ALS.  I read it because I'm a glutton for punishment and because my mom had ALS-it took her over 11 years ago at the age of 63. It was, of course, tough, at times to read but it was so positive and I highly recommend it. So I finish this book and my kindle says "others who bought this book also bought these terribly sad books". I pick one. I'm not sure I remember exactly why I picked it but I did.  It was called Beyond The High Blue Air.  It's a true story of a young man who suffers a traumatic brain injury snowboarding. He is alive but in a minimally conscious state.  It is from his mothers point of view and it is heart wrenching. Absolutely heart wrenching. I finished it on another girls trip to Arizona....
Basically it tells a tale of this once vibrant, strong, healthy young man being thrust into this new world of care teams, indignity, and pain, all with no verbal communication but very real and clear emotions. (The young man dies-after a hard fight to help him end his life mercifully that failed.)
This is what it means to have Rett syndrome. Rett is a spectrum disorder (ranging from very mild with some language to very ill) and our daughter is mildly affected. She isn't in pain all the time, she doesn't suffer many indignities that I know of and isn't that medically involved. But, it does not change the fact that she has very real and clear emotions and is non verbal. This isn't to say she is quiet-because for the most part she is not. And it doesn't change the fact that she could in fact die in her sleep.
Lately, for at least the past 6-8 months, Avery has had almost daily crying spells. She used to never cry.  Really, never. She is almost 12.  Is it hormones? Is she sad about her life? Is she hungry? Is she thinking about something sad? I have no clue. 
Yes, she has a communication device but surprise! It's not working well. And I'm also one of the lazy Rett moms who doesn't invest enough time and energy into programming and facilitating. I really am.  I literally work at a Rett clinic and my daughter should be set. I'm lazy. I am. Working on it.
See, she has always been happy. Almost always.  Except during regression.  But since then, for sure. She loves music, family, parties, school, friends. She is just like me. 
And at the same time this gorgeous girl of mine is like a toddler.  We awaken in the middle of the night to her cries because her sheets are off and she is cold.  She cannot pull her sheets over her. She might have a bug bite and cannot itch it. She might be thirsty but cant yell "mom I need a drink". I literally lift her out of bed in the morning and dress her and feed her every single bite of food. I brush her hair, I pick out her clothes, I brush her teeth, I HOPE I am making the right choices for her. I put her in the car and take her out. At almost 12 years old I change her diapers. It is so normal to me that I dare to think about how it feels for her.  
She will be in middle school in the fall.  I cant even. I have fought for her to go to her neighborhood school for the past three years. I want to keep her in elementary forever. The older she gets the less easy and in the "groove" this life is. At this point I'm wondering if middle school should be spent with me....
In 5 days we go to see Taylor Swift.  This will be her 2nd time.  Whole family going this time. We "chatted" about it tonight and she is clearly pumped. As am I.  But I'm still sad.  This is Rett.  

Thursday, July 7, 2016

ten

Avery's third birthday was the last one she had before rett syndrome came into our lives. The post I wrote about it was so different from the one I wrote just one year later. At 3, I was worried people might notice she was different or quirky.  We had a party with her preschool classmates and some friends.  It went extremly well.

By the time she was 4, we had had the rett diagnosis for about 8 months. That post has a different feel to it. There is a sadness there and even some anger. We weren't having a party because there were no real "friends" to invite.  I didn't want go through the motions for our friends kids because the differences between their kids and Avery were so very noticeable at that point. It would have been a gut punch so we skipped it and did a family party at our house.

But, her  5th birthday was a huge success. And after that it wasn't such a huge deal.

Ten, though? Ten is big.

Double digits. TEN.

But that isn't the only significance this birthday holds.
Soon after Avery was diagnosed, maybe a week or so after, I was lying in bed trying to sleep.  My mind was racing with so may thoughts. Terrible sad thoughts. Then I had what I can only describe as a vision. I saw Avery as a 10 year old. No idea how I knew she was 10 but I did. She was ok, she was free, she was fine. She would be ok.

Maybe I hung on to that thinking we would have a "cure" by the time she was 10. Ok, I did hang on to that.  I did. And no, we don't have a cure.  But we have come so far! We have trials and research and amazing things and amazing people on our side. Things are moving quick. Way quick.

And you know what? We ARE ok. We truly are. And Avery?  She is still a happy, giggly lady.  For all her challenges, though they may be mild in the world of Rett, she is so resilient. She is so strong.  She has taught us to be strong as well-to cherish every moment.

I can't wait to hug my goose tomorrow morning, to give her some presents.  My ten year old goose. We will celebrate her with her friends and our family on Saturday at the pool of course. Sunday we will get her ears pierced.  She is pumped. So are we. We have come so far. There is much to celebrate.


Saturday, March 5, 2016

we are not "dealing with it"

When your child is "different" you hear a lot weird comments.  Most of the time they are well meant-sometimes not so much. I don't think I am alone in this. In fact, I know I am not.
I spoke to a friend of mine yesterday who also has a daughter with Rett.  Her daughter is 28 and was my first introduction to Rett in September of 2001 when I started my job at the Regional Center.  Avery was not even a twinkle in my eye then.
Anyway, fast forward 14 or so years and here we are both parents of a daughter with Rett.  We are chatting after they met with our communication specialist in clinic.  We reminisce about the diagnosis and how different it is now to hear those words "your daughter has rett syndrome". Back when her daughter was diagnosed, they were told to start planning her funeral-she would never make it past her teens. I mean can you imagine? We were told by that same doctor "sorry, she will likely have seizures and scoliosis, maybe a feeding tube- good luck with that"  (not verbatim but thats the gist-oh and she referred to Avery as "the victim" I kid you not). Now, if parents get lucky with an educated physician, they are told about drug trials and reversals and hope.
So that is where is starts-dumb comments from Dr's. Then you get friends who say things like "better you than me" (well meaning but bad sounding), "at least you won't have to pay for college/wedding/prom" (idiotic) and then a lot of "how do you do it's". And then new friends that ask you incredulously "she goes to school?" (massive eye roll)
The only way to answer the how do you do it question is with this: "how do you not? its your kid"

Today we were at an event celebrating the life of a good friend of Red's who passed away 10 years ago from a brain tumor at age 29. I walk up to Red who is talking with the father of one of his friends who doesn't know us well.  We have met before but we see them maybe once a year,  if that. Turns out they are talking about Avery and how she is doing at school with half her day in regular ed. I walk up and say hello. This man looks at me and says something like "i can't believe everything you have had to deal with. that is heavy stuff.  we were just talking about life and it was all great and then BOOM, it went downhill" I think he meant it to come out differently but it irked me.
I said to him "we are doing what anyone else would do" and then I said: "our lives are so much better with her in it" and he says "that is a nice thing to say" and I say "it's not a nice thing to say, it's the truth"
and it is.  we aren't dealing with it.  you deal with traffic, taxes, assholes, and bad weather.  You don't deal with your kid who is disabled. you embrace, accept, love and have gratitude. and that should not be the exception, but the rule.


Thursday, February 25, 2016

If I can do this, I can do anything.

"If I can do this, I can do anything."
That's the motto of Achieve Tahoe, (Formerly Disabled sports USA Far West) a wonderful adaptive sports program in the Tahoe area. I know it is meant for the participants, but it applies to me as well. 

I was beside myself with nerves when we showed up last weekend for Avery's ski lesson.  I had visions of crying (me and Avery), nothing working, just an EPIC FAIL.  When we called to schedule we wanted her to be in a sit down ski (bi-ski) but they were all reserved.  We were placed on the wait list but were fourth.  She would have to have a stand up lesson.  I told the girl on the phone that I wasn't sure that would work with her balance and feeling unsteady, not to mention not being able to hold on to any thing adaptive (they told me they had a walker type thing they could try). I booked the lesson feeling very unsure.  I called Red to tell him that we couldn't get the bi-ski and his first reaction was "cancel it". I said its too late!  so we crossed our fingers, signed nolan up for a snowboarding camp and headed up to Tahoe. 

We went ahead of time to rent our equipment.  Getting ski boots on Avery was tough.  But we did it and she took a few steps and seemed to be fine.  We put her regular boots back on and walked over to the ski rental section.  She started crying.  She never ever cries.  I think I had put her shoe on wrong and it hurt, but I still don't know exactly what it was.  I was hoping it wasn't an omen of more tears to come. 

Back to the cabin we go to meet up with friends and have dinner.  Im a ball of nerves.  Not only for Avery but for me-I hadn't been on skis for 13 years! 

The next morning, Red and Nolan got up early to get him to camp.  The rest of us slept in and ate pancakes and had coffee and enjoyed the morning. Finally it was time to get geared up. 

We arrived at Achieve Tahoe about an hour early for the lesson (had to give ourselves extra time for traffic that didn't exist!). And we waited in the waiting area.  Other families started to arrive and we exchanged that knowing smile. 
The "its ok I get why your kid is making weird noises and knocking stuff over" look.  We mostly got comments like: "wow she is excited!" because Avery had perma- smile and was loudly squealing. She was making me feel better about our choice for sure.  

The time came and the instructors started filing in from their morning lessons. Our instructors found us, asked us if there was any thing they needed to know and literally went out and put her in her skis.  
she was unsure at first. almost did the splits. looking at Kristin and Frederica like dude, what the hell are you doing to me. they took her to a spot at the base of the subway lift and started working on shuffling her feet, "walking" in skis. 
red and I got ours on and watched.  we got the feeling we were being stage 5 clingers and got on the lift to take a quick run.  
We got on the lift and screamed down to Goose. We were still unsure.  I was thinking "where the hell is the walker thing?" "how do they not get that she cannot ski standing up?".  

We continued to ski, ending our runs with checking in with her.  She took a lot of breaks.  We asked a lot of questions.  what aren't you using more equipment?  We don't mean to try to do your jobs but....? 

We were trapped in the 'wanting her to just get the quick feeling of skiing' headspace.  they had more in mind. even as her parents, who advocate for least restrictive environment, wanted more equipment! what were we doing?  it wasn't that we didn't have faith, we just didn't know what she could do. even though we literally have to convince people almost every day that she can move mountains if you just believe. It was a weird spot to be in. 

Then we saw her go down a tiny portion of the bottom of the hill and I lost it. The happiest tears ever flew out of my eyes. Red got a great video of 15 seconds of her going "downhill" on her own with literally nothing but skis and boots. It was quite literally one of the top 5 moments of my life. truly. 

Red had to go get nolan from the camp he was doing when her instructors told us they were going to take her up on the lift. We told them to be prepared for shaking, heavy breathing, arms going up in the air.

I went up ahead of them and got a video of her getting off the lift. She nailed it. Even Red fell getting off the lift once that day. 

Kristin and Frederica got on either side of her and off they went.  I tried to ski behind them with my phone recording, I dropped a glove and had to side step up halfway to get it, but I got a video of Avery taking her first run. In only skis. 

I followed them down-they fell a few times.  goose was getting tired and cold.  I went up for one more run and on my way down I ran into Nolan and Red.  I got to see nolan shred it up on his tiny snowboard. I took him on his first lift ride and we went down together. 

We did something we never ever could have imagined doing. thanks to amazing people. VOLUNTEERS. amazing. 

And, if we can do this-we can do ANYTHING. 

Thank you Achieve Tahoe, we are already planning our next trip. 

find out more here www.achievetahoe.org
               






Wednesday, January 13, 2016

thank you, david

it's a bad habit, but the first thing i do when i wake up is grab my phone and look at emails and Facebook. i tell myself it helps me wake up.

Monday was no different. as i scrolled through Facebook, i saw the news that david bowie had died-just two days after his 69th birthday and the release of his new album-and album that was kept secret and now known to be a well choreographed "parting gift" to his fans.
my first thought was "please let this be a hoax", like that time I went to tell Red that we lost Willie Nelson but we really hadn't.

quickly i realized it was true and my thoughts turned to my brother. David has always been a huge bowie fan and made me one too. being 5 years older i alway looked up to him and thought i should probably like what he liked if i wanted to be cool.  he is the reason i had a poster of The Cure next to my poster of Bon Jovi.

i texted him. he couldn't believe it. nor could i.

taking the kids to school we heard let's dance.  i smiled a sad smile.  i told the kids that we lost a great artist. Avery stayed home sick that day and I spent some time reading the various tributes that were being constantly posted. at the gym i watched a show on mtv and at each commercial break there was a tribute. i continued to text David to chat about some of the articles.  he was still in shock.

last night i read yet another article and really started to feel it. I went to youtube and played Changes, then Heroes, then Blue Jean and the tears just started to spill out.  it was a surprise to me until i realized why i was crying. those songs take me back to being 12 trying to impress my big brother by going to the mall with my friends and bringing him posters and books and anything bowie.  i was trying to get him to see me as a peer and not a little sister. our five year gap was tough at that age. I was 12, he was 17-- but music was one thing we could bond over, even if just for the 3 minutes and 22 seconds of a video we watched together on MTV. (i honest vividly remember watching the video for Blue Jean with him and just thinking wow-never had I seen anything like it)

watching those videos took me back to that time and how hard i felt i had to try to get my big brother to see me. in those moments watching videos on MTV, i think he did.

the music brought me right back to the mid to late 80's and the relationship that wasn't really a thing with my big brother and i was sad about that -that we seemed to have two completely different lives. i think it also made me miss being a kid and having parents that were alive...and there were tough times had by both of us after he graduated from high school -things that we went through separately. but now-even though we are 3000 miles apart, we have never been closer.

David Bowie's music (and movies! labyrinth is one of my all time favorites) was such a huge part of the fabric of my life and i didn't actually realize it until last night. and that makes me sad--that we almost always won't realize the impact of people in our lives until they are gone.

My brother David had (and has) a huge impact on my life and i want him to know that. i want him to know that I am so proud if him and where he is in life today--A great dad to his kids, a great husband to his amazing wife and a successful realtor.  He has always been one of the smartest, coolest people I have ever known with a heart of gold.

Thank you David, for introducing me to the rockstar that was David Bowie, who made me realize what a rockstar you have been in my life.

Tuesday, July 7, 2015

nine

isn't it funny that we don't count the day of our birth as our first birth day? that we wait one whole year before we really celebrate? shouldn't the actual birth day count?

i remember so well the night before-as much as the day of. i have written about it almost every year. the food I ate, the forced contractions on the couch (that we still own and is still hanging in there) and trying to sleep that night knowing my life would change forever the next day.

nine is not my favorite number.  i never liked odd numbers. avery will be nine tomorrow.  she was diagnosed with rett syndrome on the ninth of November. nine is divisible by 3 and I hate three as well.  i like things even. because i said so.

so of course it makes sense that I'm likely as excited tonight as I was back in 2006 the night before we met our goose. i was hopeful and giddy and excited and nervous and happy.

i cried so much as she turned 4-her first birthday with the rett diagnosis.  i cried when she turned five-and not because she was going to kindergarten and growing up like she was supposed to. i think i stopped crying at her birthday last year.

but this year?  it is so much better.
Avery has friends.
We are having a party and inviting her friends.
and i could cry over that.
except I'm too happy.
we have had parties for her with OUR friends.  and our family.  but never one with HER friends.
maybe it is just a few friends. not a ton.  but it counts.
her gift from us is tickets to Taylor Swift in August (fine it is a gift to me too).
she is so happy.
Rett be damned.
Nine.

Tuesday, April 21, 2015

to blog or not to blog

bear with me on this one. its been a while. 

i went to my second Hozier show last week.  it was amazing, more amazing than the first only because i was about 20 feet away this time and could see his every feature. i could see his fingers on the guitar and the sweat on his brow and the saliva jump from his mouth as he sang.  i could see every emotion. i could see how he swept his hair behind his ear and the gratitude he felt for his audience. 

know what else i could see? about 17 cell phones raised above the heads in front of me recording or instagramming or facebooking the entire show. 
i wanted to take pictures too.  and I did.  i took three.  but only one worked because my phone hates me*

but all the absent minded recording that was happening in front of me made me think.  it made me a little sad. ive written about this before.  about the theology class i took at GMU and the professor who said something very clever about how in sharing ones experiences we lose part of that experience. like the story a fisherman tells about the big fish he caught and how each time he tells it the fish is just that much bigger. it might make the story slightly more interesting for the listener but doesnt it make the story kind of suck for the teller? it does.  there is something about experiencing something and just keeping it for you. 

i swear to you the girl in front of me was literally yawning as she recorded songs from the show. Hozier is not yawn music-it is in the moment, emotional, beautifully written music. i urge you to see him live if you can (the opening band, well that is another story). but here was this girl recording it for recording sake so she could share it on her social media-but what did she get from it? what did she get from the show? did she feel the music, did she connect with the lyrics? i dont know. 

im reading a book called "all the light we cannot see" by anthony doerr (just this week it was awarded the pulitzer for literature) and it is fabulous. (i guarantee you i thought this BEFORE it won the pulitzer). anyway, there is this line in the book that has stuck with me “Open your eyes and see what you can with them before they close forever.” I know, right? 
deep.

oh, what is it that i am trying to say? if you know me you know I love social media.  i will make a case FOR facebook (or most kinds of social sharing) any day.  and im not going to stop using it anytime soon. its just that im taking stock lately.  of my life and of what i want to share-what i feel is important to share-what i need to really share. all this to say 
this is why i think its been a while. 

*i posted that pic.