Sunday, April 28, 2013

April 28 - Matt 11 year anniversary!

I guess I should just call April "Anniversary Month".
For these reasons (in order....):
-My parents got married in April
-My college roommate got married in April (actually today!)
-Matt and I got married in April (actually today!)
-Alexis was discharged from the NICU
-Jessica had open heart surgery

I can say these are all great things in my life.  But most importantly was finding someone who could walk the journey with me.
When I tell people about Matthew, I sometimes tell this story.  One of the first dates we went on, we went Ice Skating with the Graduate Engineering Dorm at Stanford (pretty geeky, you all can picture it right?)
If you know me, you know that I didn't inherit or develop coordination of any type, so I'm appalling at ice skating.  I can remain upright but typically there are several moments that I give way to gravity and fall on my butt.
Well, it's different when Ice Skating with Matt.  I start to wobble and he just reaches over and grabs my sweatshirt at my shoulder.  It steadies me, it supports me enough and lets me regain my footing.  That's Matthew.

My other story I tell about Matthew is that he's my sun to my solar system.  I am a little random, maybe like a comet on an abnormal orbit.  Matthew keeps a large enough gravity to keep me in this solar system, but not too much to cause me to crash into any planets.  

I realize these are odd analogies, but he is there for me always.  I love you, Matthew!  Happy Anniversary!


Sunday, April 21, 2013

One of the Shows we saw on Vacation - Enjoy

Saturday, April 20, 2013

Florida Trip Photos

Sea World - Monday
First ride of the Vacation.
 Shamu Show in Sea World
 Whales kissing.  Matt takes these pictures.
 Tuesday we went to Aquatica, so we didn't take any pictures because we were wet all day.  Jessica enjoyed the big play structure that had waterfalls and splashes everywhere.  I couldn't go on it because a couple of times I almost lost my contacts.  YIKES!
Next series of photos are Disney!  Alexis enjoyed her toy and Jessica was a little grumpy for the beginning.

Matt and Jessica comparing Muscles with Gaston! 
Unplanned visit with Jessie and Woody!  It was a hot visit! 

Early Dinner scheduled with Pooh and Friends.  Tigger was so exciting for Alexis to see! 

 Best smile and giggle EVER!!!
  Best smile and giggle EVER!!!

 Belle!  They didn't allow flash photography so it's grainy and the pictures with Jessica are worse.  I'll see if the official Disney ones work.  
 Worst scheduling plan ever: After late night at Disney, to go to Breakfast with Mickey and Friends at 7:15am.  Thankfully after breakfast, we could take naps :)   Here are the photos from Thursday morning:

 Love this picture of Alexis touching Mickey's nose.  

 Here's Alexis pulling on Pluto's whiskers.  

We had a great time.  We had attended a fundraiser last April and at the live auction I bid on a Disney/Sea World trip.  It was a wonderful time and we're really glad we were able to support the Professional Center for Child Development at the same time.   They are having their next fundraiser on Friday May 3rd, it's celebrating their 40th year of operation.  7 years ago today, when Alexis was discharged from the hospital, they came to our house for services about 10 hrs/week.  We hold them in a special place for helping Alexis and then Jessica get the services they need.
And it's even more fun when we can help them and take a wonderful family vacation together!

Week Away from Boston

Most Facebook friends know this, but we were away from Boston last week.  We had scheduled a trip to Disney / Seaworld and we couldn't have picked a better time.  
We are very sad that over the course of 1 week, 4 dear people lost their lives.  We are thankful for the heroic efforts of public safety officers in protecting Boston and especially Watertown.
Alexis' school is in Watertown, thankfully she was on school vacation this week - otherwise, we would have been very scared parents.  As I've mentioned before, when Newtown happened, I could see in my head what would happen if a shooter entered Perkins.  Yesterday's events in Watertown were less than 1 mile from Perkins.  Thankfully any staff that was on campus was safe and we are very happy for that.
I'm thankful that there were so many emergency responders already staged at the end of the Marathon course.  They turned their tents from 'dehydration' and 'distress' to trauma central.  Without everyone's quick response, the death count could have been much greater.  There are many who had their lives changed and for that I am saddened, but as I know with our journey - being grateful for life is most important.  Their journey is difficult, relearning to live life - rebuilding their families, it's hard work.  
Take a moment and hug those around you - keep them safe and say a big thanks for others who keep us safe each and every day.

April 20 - Alexis 7 year anniversary of Hospital Discharge

Happy Homecoming Day, Alexis!!!
7 years ago for us was very different.  We were bringing home our medically complex daughter.  At the time, the list of 'wrongness' was much shorter, many abnormalities were found after her initial NICU experience.  She has exceeded the doctors' original expectations for her - she's eating by mouth, drinking liquids (not clear for thin ones yet), and doing really well in her therapies and programs.

We are so proud of all Alexis accomplishes.  She's taught us so much.  We love you Alexis!  We love your spunk, your 'tude, your smile, all of you!


Thursday, April 18, 2013

April 18 - Jessica 1 year anniversary of Open Heart Surgery

1 year ago, they were wheeling Jessica back to start her Open Heart Surgery.  

Her surgery, her recovery, her year since then has been uneventful medically.  
Maybe instead, I should say
Her surgery, her recovery, her year since then has been REMARKABLE.

She had a great surgery - fast and efficient in all open heart surgery standards (<4 div="" hrs="" total="">
She was up and walking less than 6 hours after the surgery.
She was moved out of the ICU less than 24 hours after surgery.
She was discharged from the hospital less than 48 hours after surgery.
She was home and basically back to her normal.  

She makes us happy everyday - she is our non-stop curious child, she unabashed, she is happy to meet people, she has baby radar and baby magnet (she can spot a baby from a long distance and get to them instantly), she has a heart of gold and she is truly a great sister to Alexis.   

Happy 1 year anniversary Jessica - You're doing awesome.  We'll enjoy the Cardiologist's report on May 1st.  


Saturday, April 13, 2013

Evolving Genetics Knowledge and Capabilities!

One sister is an ER Doctor.
One sister is a PhD in Plant Genetics.
One sister is PhD in Mechanical Engineering and PhD in All Things Alexis.

Luckily for me, both of my sisters are a single phone call away at all hours of the day to help me care for Alexis.
Numerous phone calls to my ER Doc sister, "Do we take her to the ER?" "Is this normal?" "Can you translate what the Dr told us?"  On several occasions, her response was "Hang up the phone, pack a bag, call an Ambulance or drive to Children's."  The one time when Alexis was blue and not breathing, I called 911 immediately.  The second call to my husband.  The third call to my sister to ask what tests they would need to do (by this time Alexis was 'back-to-pink' - THANK GOODNESS!)

So I should get back to the point of this post.  Alexis has had 6 different geneticists do genetic work-ups.  Each time, they talked to me in a foreign language (it was Genetics-ese).  I'm sure some readers will relate to this.  Once I could get a report, I could send it to my sister for translation.  Both of my sisters are amazing at melting down the essence for me (and I'll brag a little here, I'm probably a little better at taking action than they are :P if they are reading).

Yesterday I heard a great article on NPR Marketplace which I had to post - about the advances in Genetics for diagnosing genetic abnormalities (remember that even though we have found lots of little hints, we still don't have a name other than Alexis Schnaderbeck Syndrome).  

Here is a great quote from the mom in the article: 
“There’s so much that falls apart in a normal family life because you are living a very medical life. So if other families didn’t have to go through that kind of medical odyssey, it would save a lot of people’s lives in a lot of ways,” she says.
Moseley says it’s unlikely the discovery of Leta’s condition will help her. But it’s clear the technology that solved her medical mystery has the power to provide answers that until now have been out of reach.
The other 'small world' item from this - we sent Alexis' bloodwork to Dr Krantz in 2007 to rule out Cornelia de Lange Syndrome.  It was great to 'hear' from a doctor who I had only previously emailed with regarding Alexis' mystery diagnosis.  

I can't wait to see how this evolves further.  I obviously understand Dr Eric Topol's point that unless it helps reduce costs or improves outcomes, it won't be widely accepted.  But for us, we have learned so much from our adopted CHARGE Syndrome community, I would love to find the other Alexis Schnaderbecks in the world to build a community - and that is where we can reduce costs and improve outcomes, by connecting patients and experts!  

Until then, we are a happy rare island!  (Thankfully surrounded by family and friends who support us along the mystery diagnosis journey).


Thursday, April 11, 2013

Reviewed MedGadget Posts in Email - found this Gem

It's still in research, but it could enhance Alexis' hearing without doing Cochlear Implant surgery.  

Very interesting!  I imagine it will also help older adults as they experience hearing loss.  Interesting.


Tuesday, April 9, 2013

Perkins Deafblind Program Staff Appreciation Day

After the Newtown, CT tragedy, I experienced the same urgency to get home and hug my kids that many parents felt throughout the world.
After the shock gave way, I tried to come up with a way to give back to the teachers that would protect Alexis.  I was especially frightened to imagine if a shooter came into Alexis' world where she is so extremely innocent.
So, my "excess energy" went to getting donations for Perkins Deafblind Staff Appreciation Day in March. I honestly started requesting donations in December.
In the end, I requested donations from over 400 companies.  I got donations from over 60 companies, which made the Staff Appreciation Day an absolute success!  We had over 140 gifts to make a great day.

Here is a link from Perkins:

Thank you all!  It makes me so proud to be a Perkins Parent and to be able to help recognize the selflessness of the teachers and staff.