I thought I would have to teach my daughter about the world; turns out I have to teach the world about her. They see a girl who doesn't speak,
I see a miracle who doesn't need words.

Friday, May 31, 2013

Dentist Appointments

Someone asked me this morning if I have a medical background.   It's not the first time I've been asked that question and I usually respond with I'm not a Doctor, I just play one at home.  The only initials I have behind my name are M.O.M.  However, most days I am a physical, speech, occupational and feeding therapist, my favorite, a proctologist, a gastroenterologist, a pediatrician, a neurologist...you get the point!  Anyway, the big joke at the dental office on Tuesday was that I was a hygienist.  It took three people to clean Alex's teeth and I got to keep her mouth open and hold the 'suction thingy' to suck out all of her spit (how is that for medical terminology?!?)    
We had some conversations about her teeth and the oral surgery she had last year - she was listening so intently to everything we were saying.

I'm thinking she was trying to process everything....

And then she was like, okay - this looks like it might as good a time as any to get up and try and walk away!

She actually did awesome - she LOVED the sound of the 'suction thingy' so she pretty much laughed through the whole procedure.  Her teeth look good, other than the tons of plaque that is such an issue because of all of her excessive drooling.  We brush her teeth after every single meal and before bed - and the dentist said we could brush them all day long, but with the amount of drool sitting in her mouth, there's no avoiding all the build up.  We decided the best thing for her is to go every three months instead of every six so we can try to manage it better.
I felt really bad for Zach because he had an appointment too - but they put Alex in a room with a closed door and Zach was outside of the room getting his exam in an open area - but because I was playing hygienist with Alex he was out there flying solo.  As soon as I could I left Alex and went to be with him - but he was just finishing up.  

So brave :)  

His teeth look pretty good too - no cavities - but they did say that he's going to need braces, not right away because he still has quite a few baby teeth, but most likely by the time he's in middle school.  And we should start saving now - do you know the going rate for braces right now is about $8,000?!?  YIKES!!!!!!!!  Zach also has a tooth that has grown in sideways - when he smiles you can see it but it doesn't hurt or anything.  The dentist said we could go see an orthodontist now and get braces now to fix that and then do another set when he's in middle school.  Um, no thanks, I think that tooth gives him character - we're good!!

Do you ever feel like a broken record with your kids - "Did you brush your teeth?" - "Will you brush your teeth?"  "PLEASE brush your teeth!"  That's how it's been with Zach.  One of my favorite responses is "Why should I brush my teeth now if I'm just going to have something to eat later?!?"    Well - while I was in with Alex, apparently the hygienist was showing Zach a 'picture book' on why it is so important to brush your teeth and to floss.  She pulled it back out when I came out to let me know what they had talked about and why taking care of your teeth is so important.  There were nice pictures of healthy teeth and gums but I'll admit - there were some pretty nasty pictures of people who didn't take care of their teeth!  Well, whatever she said certainly hit home with him.  Every morning he gets up and goes in the bathroom and brushes (and I don't mean the 2 second toothbrush isn't even wet 'brush' he was doing) AND he FLOSSES....and he brushes when he gets home from school AND he brushes and FLOSSES again before he goes to bed!!  I would say that was worth every penny of the co-pay for that appointment!! 
By the time we were done at the dentist Zach was starving.  Alex had to be at therapy a little after an hour we were done and still needed to eat and lay down for a quick nap so I dropped them off at home and Zach wanted Subway.  He said he wanted a foot long - to which I responded "There is no way you are going to eat a foot long" - but he said he was starving and would - so I figured I would get him one and just wrap the other half up and bring it home for Aaron.  BUT, to my surprise, he ate the WHOLE foot long!  And TWO cookies on top of that!!!  I think someone is growing!!

Wednesday, May 29, 2013

Happy Birthday....

Saturday was my birthday.  Normally I LOVE celebrating my birthday - in fact, I usually make it a week long event!  Today, however, is Aaron's 40th birthday so I had no plans to really celebrate - in fact, up until last week, I hadn't even thought much about it.
On Wednesday I got the best early birthday present.  I got a call from the geneticist - we got the green light for Alex to have the atypical testing we were praying for.  The insurance company agreed to pay for the testing.  What better gift could I have asked for?!?
We made arrangements for her to have her blood drawn at MCV - her blood has to be sent to the University of Chicago and there are specific handling instructions.  When the geneticist and I spoke she arranged for Alex's blood draw to be the following day (Thursday)  at 3PM.  When we got there and checked in the lady at the desk said she thought there was going to be a problem.  Alex's blood had to be shipped within 24 hours at room temperature and the courier had already picked up for the day and because of the holiday weekend there would be no pick up on Friday. I was a bit miffed, obviously.  Normally I don't outwardly say things when I'm mad - I have to say, the older I get the worse I'm getting about that!  So I said that information would have been nice to know before I drove 40 minutes to get there - and according to my nurse I said it loud enough for everyone in the waiting room to look over my way.  Oops. To make a long story short the lab in Chicago said they could keep her blood refrigerated until Tuesday and ship it then.  I wasn't really happy with that answer either but they assured me it would not skew her results.  In my head I'm also thinking this is going to add another week on to the two months we already have to wait for the results!  I know these two months are going to feel like forever. And even though we've waited this long - it's still nerve racking!!  We were called back and her phlebotomist was GREAT - she got the blood on the first stick and we were literally done and on our way within minutes.  Anyway - this isn't what this post is supposed to be about!  I guess you could say Anthem Blue Cross Blue Shield gave me an early birthday present with authorizing the testing.
Here's my sweet girl after her draw.  

Thursday I was sitting at my desk at work when I received this beautiful delivery from my husband.  It was such a sweet surprise and I love that he did for that me - especially that he sent them early so I could enjoy them longer.

My girlfriend Christy received a necklace a year or so back and I have loved it ever since she showed it to me.  Not only do I love the story behind it - I love that it also helps a good cause.  This year I decided I was going to buy myself a birthday present so I ordered myself the necklace - and it was delivered Thursday!

The necklace has a willow tree in the middle and around it it says "ever bending l never breaking". 
The story of the necklace is this:
The willow tree is a relatively small tree without much of a trunk. Its branches are long and bending and give the appearance of being weak and fragile. Yet, when the storm rages it is the willow tree that stands strong. Under the earth the roots of the willow tree run long and wide; these roots hold the willow tree in place during the attacks from the violent winds. The deceptive branches are also a strength for the willow tree. Without a large trunk the willow tree branches are long and pliable.  During the raging storm, the branches move and stretch with the wind. Ever bending, never breaking.
Much like the willow tree, parents of medically fragile children weather the storm and persist despite the significant emotional, physical and financial challenges they face in caring for their children. Over time, these unrelenting burdens can drain a parent's strength and stamina. The Willow Tree Foundation was established to provide moments of calm in the storm by providing respite opportunities for parents so they can continue to bend, not break, and stay strong like the willow tree. 
The Willow Tree Foundation provides parents of medically fragile children with respite opportunities through activities that allow parents to take "time-out" from the unrelenting demands associated with their child's care so that they can maintain their stamina and sense of perspective and continue to meet the intense medical needs of their child.
So not only did I get something I've wanted and love, it helps an awesome cause.  AND - it comes in a really cute bag too :)  Here's a link to the Willow Tree Foundation - http://thewillowtreefoundation.org/.

Friday I got to work any my co-workers had mimosas, pastries, balloons and presents in the conference room to celebrate my birthday. 

Friday night our friends Scott and Leslie took Aaron and I out to dinner to celebrate both of our birthdays.  They took us to Accanto and the meal was awesome!   
Filet over risotto and shrimp and red pepper risotto....so delicious.
Aaron's chicken dish was chicken breast stuffed with prosciutto and mozzarella and dusted with panko bread crumbs...think he liked it?!? :)

Saturday I got to sleep in late and then Aaron brought Alex in to lay in bed with me while he and Zach brought me coffee and gifts.  I enjoyed a nice morning at home with all of my loves and I especially loved the card Zach made for me:
 He did the Mommy words all by himself with no help - which I think is pretty impressive.
Saturday night we went to dinner with my parents, Dana and Scott and Leslie.  Again - awesome food, but even better company.

The best hot brownie and vanilla ice cream with a candle in it!
Considering I was planning on taking a back seat this year, my birthday was pretty fantastic!  (And now I need a crash diet!)

Today Leslie struck again and left this in the yard for Aaron (and the whole neighborhood) to see :)  When we had gone out over the weekend we were trying to get a good picture of him to use so we started being silly and snapped this picture of him saying he was going to be 40...obviously he didn't expect to see it in the front yard!!  There were other balloons that didn't make it through the night unfortunately! 

We were supposed to have dinner out tonight with my parents, but unfortunately Aaron got sick today with a stomach bug :(  Seriously?  Not a fun birthday for him.  He came home from work early and spent his afternoon in bed. 
He came down long enough to open his presents from Zach.
He got a great card from him too...(love some of the spelling!!)

And he humored me while we sang Happy Birthday to him.

He let Zach blow the candles out while he pretended so he didn't share his germs :(

And then he went back to bed :(  We are celebrating this weekend so I hope he feels better by then.

Happy birthday Aaron - I'm sorry you were sick, but on your 40th birthday I hope you feel as loved and special as you make me feel every day.  XOXO

Tuesday, May 21, 2013

Eating a Little Bit of Crow!

In a recent blog post about genetic testing (here's the link) - I was a bit upset with the new geneticist and his approach to the testing I wanted done for Alex.  And in that post I made a comment about waiting by the phone for the doctor to call me (clearly indicating I knew that wasn't going to happen).  Well, I have to eat my words because about 2 weeks ago there was a message on my phone - from that doctor's office.

He still isn't prepared to do the testing that I initially wanted, but he did say that he had gone back and was reviewing all of the information he had on Alex (hate to admit that impressed me a bit considering it was weeks after we had the appointment) and that while ALL (because there have been MANY) of Alex's Angelman and Rett Syndrome testing had all been normal - he strongly felt that Alex should have the atypical testing done for both syndromes.  Typical Angelman and Rett Syndrome are mutations on the 15th chromosome - tons of tests have been conducted on Alex's 15th chromosome because it was first thought that she had Prader-Willi Syndrome, then Rett Syndrome, then Angelman Syndrome.  Ironically enough, all three of those syndromes derive from the 15th chromosome (just different quadrants on that chromosome). 

I have a lot more to blog about recent events that will maybe tie a bit of this together, however, we are anxiously awaiting the lab slips and insurance green lights to have the atypical testing done - specifically the atypical Rett Syndrome (which, given Alex's hand movements is what almost every doctor she has seen has first thought to believe that is what she has).  Atypical Rett Syndrome - specifically the congenital variant (http://omim.org/entry/613454) - which fits Alex to a T - is on the 14th chromosome and does not impact the MECP2 gene like typical Rett Syndrome, rather the FOX1 gene.
It's very odd to switch gears at the moment from a clinical diagnosis of Angelman Syndrome to Rett Syndrome because we have been in the Angelman world since Alex was three.  However, the more research I do on the congenital variant, and the questions that a new specialist is asking, it's hard not to get a bit excited (only special needs parents can probably read that 'excited' in the crazy context I mean it!) to feel like we could potentially be on to an actual diagnosis.  It is SO incredibly hard not having a definitive diagnosis -  or prognosis for that matter.  It's funny when I think back and try to put things into context - 10 years ago this research I am doing would have devastated me, now I would be so happy to just know.  I can't imagine life without Alex - or life without her being the way that she is actually - she has made me the person I am today, she has made our family what it is and I couldn't have more of a deeper love for her if I tried.  The diagnosis wont change a thing, it will only help us understand things a little better and help us take comfort that we are doing everything in our power to give her the very best life possible. 

Saturday, May 18, 2013

Bumps and Bruises!

 These pictures aren't really good because I took them with my phone, but about two weeks ago I got a call from Alex's nurse that she was in the classroom and had a vibrating plush lady bug on her tray.  Alex was having a particularly MANIC day - she was laughing uncontrollably, pulling her hair and rocking back forth....apparently she was rocking so hard that she came forward with all of her might and nailed her head on her wheelchair tray - which had the lady bug on it and Alex smacked right into the hard plastic battery pack of the lady bug. 
When I got home and saw her I swear she looked a little bit like Avatar....huge purple and green bump right in the middle of her forehead!  Of course she was still a bit manic so she was all smiles - didn't seem to phase her at all.
During the week you could tell it bothered her a bit - but two weeks later she still has remnants of the bump!


Fast forward to that Sunday.  We were getting ready to go to church.  I was upstairs - Aaron was downstairs with Alex.  All of a sudden I heard the loudest crash and Aaron yelling.  I ran down the stairs faster than my feet could carry me to find Alex laying on the ground - strapped IN her wombat chair (basically a large high chair) and Aaron half lifting her back up but with a clear look of pain on his face and one hand behind his back.  Apparently when he was wheeling her into the living room from the kitchen to watch TV while we finished getting ready, one of the wheels FELL OFF her chair!  Unfortunately, Aaron didn't realize it until he let go of the chair to reach for the remote control and she went down like a ton of bricks.  Her chair has a very large acrylic tray on the front of it and when Alex went down it was unclear or not if her arm had gotten stuck.
All I know is that Alex was crying.  And I mean CRYING.  You know those baby cries when the baby is screaming but no sound is actually coming out?  The ones that scare you to death because their lips are turning blue?  That was her.  We had NO clue if/what she hurt.  After 45 minutes of crying I was one foot out the door from taking her to the hospital (and I know it's silly, but I always play a triage room conversation in my head between myself and the nurse - "what brings you in today",  "Well I don't really know." "You see my daughter is non-verbal and ".  I knew at first she must have been crying because the fall had to have scared the beejezus out of her, but after a few minutes she was still crying and I was trying to move every single one of her body parts to make sure nothing was broken. 
I have said it numerous times before, but her not being able to communicate is by far the hardest, hands down, part of her disabilities.  I cannot express how absolutely heartbreaking it is to know that my child is hurting and scared in such a way and there is absolutely no way for her to tell me what hurts.  And the fact that I have to play a guessing game on what I think MIGHT be hurting her is equally heartbreaking.  Coupled with the fact that I am doing my absolute best to hold her, rock her, and comfort her and not knowing if she understands what I'm doing instead of making the hurt go away.  Sigh.
Oh - and the reason Aaron only had her half lifted up and his hand behind his back?  Yeah, he pulled his back out when he reacted so fast.  Sunday was also the 15th anniversary of the day we met - I joked with Aaron that there hasn't been a dull moment since the day we met - and that morning was definitely no exception!!
Needless to say we didn't make it to church...I think God understood though!!

Friday, May 17, 2013

Field Day Fun!

Third grade Field Day, what could be more fun?!?

Last Friday was Zach's field day.  I swear it seems like yesterday he was in Kindergarten and didn't know what to expect.  Now he's a big ham!  They start the field day with this great compilation of  songs and dance moves - he loves it.  He's out there dancing up a storm like he doesn't have a care in the world!  I can usually tell what songs they will be dancing to because he's usually singing them for weeks on end.  Kudos to his gym teacher to get ALL the kids in the school on the black top doing a choreographed dance like that! 


One of the games....Fun Frisbee toss - Go Green Team! :)
Aaron got to come by and watch some of the fun - he was just a bit hot with his uniform and vest on standing in the hot sun :)

It was a fun day - I love watching all the kids get to have fun and let loose - school is a lot harder and more challenging than when I was in school - for sure. 

Love this boy!
 Next year, 4th grade games!

Wednesday, May 15, 2013

School Pictures

You know when you see something all the time and you just don't recognize or notice little things because you see it all the time - and then for some reason you notice that something has changed and sometimes you are in awe, or sometimes it can just take your breath away?

Yep - that's what happened to me when I got Alex's school pictures back this week.

My baby girl looks so big and grown up.  She's a "tween" now and boy do these pictures capture that. 

This time next year we will be getting ready for Middle School.  Gulp!

Tuesday, May 14, 2013

Buddy Ball!

Yeay, Buddy Ball is BACK!!!   We are now a baseball player for the Boston Red Sox!  Yes, the big running joke that me, the New Yorker (or Yankee I suppose), is rooting for the Red Sox, but as I said before, I love buddy ball so much I don't care what team she's on!!
Alex was SUPER sick for the first game and all of the fun events they had planned so we missed the fist game.  I have not seen my girl that sick in a looooooooooong time. 
But she's all better and all smiles now! 
So here are some pictures from her first game!
She's got her batting helmet on and ready to hit!
Her and her buddy waiting for the pitch!

And they are off for first base!

Getting ready to make it to third!

And rounding home!

Getting a "good job" from her friend Greg!

And hanging out in the dugout with all of her other cool friends!

It was a great first game for her!  If anyone is in the area, I highly recommend coming to the RF&P fields on Saturday morning at 9:30 and come cheer them on - you will leave with a huge smile on your face - I can promise you that!

Friday, May 10, 2013

The Little Feet Meet

Two weeks ago was the Special Olympics Little Feet Meet.  NORMALLY, this is one of my most favorite days of the year.  We have participated for the last four years, ever since our most favorite home school teacher Miss Katie told us about it, and I have loved it.  This year it had a totally different feel.  I don't know if it was because it was on the heels of the Boston tragedy or what.  It was organized differently, the high school kids that are involved were not as excited this year - normally one of the high school kids are assigned to a group - we didn't have one with our group.  I still love the concept, I love what it means for our kids, I love that they get to shine and be super stars and have people cheer and clap for them - I'm sad it had a different feel. Alex was really unhappy too so that probably just added to it!
I don't think that I've mentioned that I went back to work in December.  I'm working for an AWESOME medical staffing company and I couldn't be happier.  We are a four person office and my bosses rock - it takes a special group of people to want to hire me knowing what all comes with me!!  They've visited Alex in the hospital and they came out that morning to cheer Alex on.
Scott, James, Me, Aaron, my niece Emily, Zach and of course Alex, looking as happy as ever...NOT :)

My co-worker Angel showed up to cheer her on too!

No matter how hard we tried we could not get her smiling for any pictures...and that is NOT like her!

The night before I made this shirt for Zach....

He ABSOLUTELY loved it!! 

And wore it proudly!

Emily loved that she got one of Alex's shirts from last year and was able to support her cousin too!

Alex got LOTS of love and attention, but she still wasn't  happy! 

Every athlete needs a little hydration before and event!!

I tried talking to Alex and getting her to smile and be happy about being there.

Clearly you can tell by the look on her face she didn't care what I had to say!  It was a really overcast, gloomy day so maybe that had something to do with it!

Instead of wheeling her in her wheelchair for the 25 Meter race, we took her out of her chair and had her "walk" it like we did last year.

 I LOVE this picture someone caught of my mom....THAT'S what I love about Special Olympics!!!

Something close to a smile when Daddy was congratulating her!

And, finally, when she got her ribbon, she was happy! 

I'm looking forward to next year and hoping it's as awesome as ever!