Unique and Rare! Rare Disease Day 2014

Today is Rare Disease Day.  See more here---http://globalgenes.org/

Alexis is so rare, she's unique. She just turned eight.  Alexis has had 6 different geneticists do genetic work-ups (including testing at Tufts, Boston Children’s, CHOP = Not CdL or SLO, Baylor =  Not CHARGE, MGH, Duke University = no Exome abnormalities, Genome still in progress).

The great thing about kids - they each are unique. So the best thing about Alexis, she's just that - Unique. Rare and Unique, genetically undiagnosed.

But full of giggles, smiles and joy of life.  I'll take it!

I loved this blog post this morning from my friend Susannah Fox from Pew Research, especially this quote - that I'm embellishing a bit here for emphasis:

#1 – don’t get between a mom and a piece of information she needs to make a decision about the health of her child.

1 Month Later :-) .... 8 years later

It's been a month since I have written on Schnaderbeck Blog:

since then I've been at home for Thanksgiving, in Atlanta for work, in Orlando for other work and will go to Troy NY for meetings this week.

December 15 is usually a hard day for me - today it was filled with cookies and  projects around the house -- we got about 8-10" of snow overnight and it seemed like a great day to stay inside.

8 years ago we were having a different kind of night.  Matt took me to Lawrence General, for what we thought would just be dehydration and much needed rest.  Instead, we found out that Kaitlyn had died and I was taken urgently to Tufts-New England Medical Center.  Alexis got lung steroid shots - two doses over 2 days and I was put on bedrest.  Thankfully I was able to stay at home and not have to do bed rest at the hospital.

Alexis "stayed put" and grew to her huge size of 4lbs before she was delivered by c-section 8 weeks later.

I call the time between December 15, 2005 and February 8, 2006 as the wodgy period of my life -- yes, wodgy is not a real word.  It's the only word I came up with for explaining how it feels to carry alive baby Alexis and dead baby Kaitlyn.

Alas spending the past few days with Alexis (she was sick) -- has reminded me how precious she really is and how her health is generally balanced on a sword edge.  

She's made a lot of great progress this year - before she recently got sick, she was eating about 50% of her calories by mouth (purees and thickened liquids).  She's also more social than ever, and clearly indicates her wants and needs very clearly.  She's been so exhausted the past few days, I've gotten some great cuddle naps with her (holding her on my lap and letting her body rest).  Not all almost 8 year olds will tolerate that.

Take care folks - hug your little and big ones tight this evening.  And this season!

Happy November!

I guess we are falling down on the job of keeping regular posts. 

I say "we" but we all know that the we can only be me and my multiple personalities.  

Here's a great photo I took tonight of the girls together:

The official story goes something like this:

Jessica will ask "Can I watch TV?"  I say, "After you read your sister 2 books. Go find 2 books to read to Alexis"  Jessica moves quickly but even more so because there is a fun reward of TV afterwards.

On Facebook, friends have suggested:

I am interrupting their rehearsal. Perhaps they are reading lines of Shakespeare and going over who gets to be Juliet and who will be Romeo this time.

I'm interrupting an interview.  Especially with Alexis' hand in the air like that. So maybe Jessica is taking this opportunity to review key moments in Alexis' life from her perspective.

Thinking about this seriously though, Jessica would be an intense interviewer - she digs deep into the truth of all matters - anyone who has conversed with her knows this.

I'm interrupting sisters reviewing their plans.  It could be plans to get up multiple times in the night, or maybe plans to get up super-early in the morning, or even Christmas plans.  Jessica would totally help Alexis with her Christmas gift list. 

In anyway, they were just cute sitting there seriously working together on a Friday night.  

Happy November!

Cool - brief video of my time in DC last week....

I was invited to Washington DC to participate as a panelist to discuss patient engagement in App testing during the ONC’s Blue Button challenge.  It was thrilling to share (briefly) Alexis’ story and our journey – and it is truly important for me to share with others Alexis’ experience so that they are inspired to create new Apps and technology that help us care for Alexis better.  I said on stage “I have been Alexis’ blue button for the past 7 years and it’s truly exhausting” – I’ve been the person aggregating Alexis’ information and sharing it.  I’ve been the one to keep the latest information on her medical conditions and bring it up with doctors who might need to know that information.  It’s a ‘weighty’ job to be the glue for 45+ people on Alexis’ “team”.

Enjoy!

http://www.youtube.com/watch?v=h5fJCaK4gS4

Alexis in chair

I had to pick up Alexis on Tuesday for a different event - so I got to see her doing PT.  Here is a fabulous fabulous fabulous video of her progress.  She was being a "ham" because I was there with my cell phone filming.  Silly girl.  Lots of giggles and very proud of herself.

Somedays, Delirium Sets In....

After 1 full week of school, Alexis sometimes enjoys finding her bed on Friday nights.

Here she is with her giggle-festival.  I don't usually have the camera charged and ready to go - but thankfully I could capture her giddy-self.

Hope you enjoy it.  Definitely worth it for a pick-me-up!!!

Alexis Giggle

LightAide - Backpacking Event Launched on WonderBaby!!

For friends and family, you know I work for Philips.  I went to work for Philips because of Alexis' medical experiences.  I wanted to help more kids like Alexis, I talk about that here: Alexis Video

A brief trip down memory lane:

In September 2009, I participated in a Training Seminar in Philips Color Kinetics Showroom.  

In August 2010, Alexis and I had a meeting with the General Manager of Philips CK and toured the Showroom.  We launched an unofficial project - to build prototypes and see if kids could learn from light.

In April 2011, Philips CK and I went to Perkins to capture the kids' expressions first hand: Perkins Video

In September 2011, I asked the Philips Healthcare CEO to help make the project an official project - he did!  

In November 2012, I started working on it full time and we are excited to be starting to spread the word about LightAide.

In April 2013, we started final testing with the Beta Prototypes and got a lot of great feedback.  We've been working all summer to get the best product we can release to the market -- available to kids like Alexis.  

I'm so very proud that Philips sponsored this project and I hope we can show that helping 'niche' needs like kids with visual impairments can help motivate kids to have more independence (crawling, walking, seeing, being!!)  Wouldn't that be so awesome!

First the first order of business officially is to help get families who want to use LightAide to participate in a contest to win a device!

Win Lily the LightAide with the LightAide Backpacking Program!