2012 Year End Review

January

Sleeping Beauty: Starting to live again

February

Rare Disease Day 2012

March

Juggling

April

Power Wheelchair Reconsidered

May

Diagnosis!!! N-glycanase Deficiency

(Complications from Depakote)

June

First Baseball Game

July

A Bumpy Month

August

Dr. Freeze & Lab Meeting

September

An Awesome Day

October

Greetings from Puerto Rico!

November

Saving Buddy

December

Christmas Hope

Concert for Children with Special Needs

A Concert for Children with Special Needs and their Families

Thursday, January 24, 2013 | 7 PM

Utah Symphony | Utah Opera offers an annual concert for children of all ages with special needs and their families. We present this concert because we know that many families cannot attend cultural events together because their special needs child acts in distracting ways. We feature our Opera Resident Artists with the Utah Symphony on the Capitol Theater Stage in a special concert where everyone understands the difficulty of keeping these family meembers quiet in their seats. This concert is FREE but registration is required.

REGISTER HERE

The doors of Capitol Theater will be opened at 6:30 PM, and the concert will begin at 7 PM. After the concert, please join us for cookies in the lobby.

Christmas Hope

On Christmas Eve, KSL ran a story on Bertrand.  It was a story of "Christmas Hope".

Bertrand's diagnosis made 2012 an enlightening year.

Now, we hope the future holds discovery of a treatment or cure.

We are grateful to live in a community that cares about our family and especially our son.

We wish you and your family the very best, today and always.

Merry Christmas

Tonight on KSL at 10 PM

Tonight at 10 PM, KSL is airing a story on Bertrand.

If you're in the area (UT, ID, WY), tune in to watch.  :)

Bertrand's 5th Birthday Photos

All photos taken by Staci of Sweet Envy Photography.

We met Rachel!

Oh, happy day!  We met Rachel, Leah, and Alex from Signing Time!  We also met the wonderful Lucy, Rachel's youngest daughter.  They were kind, gracious, and fun!  Alas, we did not meet Hopkins.  ;)  But the kids each got a plush Hopkins toy to take home!  This event was a fundraiser for Operation Ghana.  We actually learned a lot about service dog options for Bertrand from Rachel.  She was so good with him!  We are so happy to have had an opportunity to meet this inspiring family!

School Holiday Party

Vulcan Victoria

Her father's daughter.  Live long and prosper.
(Thanks for the ears, Niki!)

(Almost) Wordless Wednesday

Today was our beloved Miss A's last day.  We all cried.  We will miss her.  :'(

Signing Time: Book & DVD Signing

Bertrand and Victoria will be carting their Signing Time gear to the Melty Way in Midvale, UT on Saturday, December 22, 2012.  I can just imagine their little faces meeting Rachel in real life!  Their minds will be blown.  :)  All proceed go to benefit Operation Ghana, which provides scholarships to students attending the Ghana School for the Deaf.

Balloon Fun

Bertrand has fun with a balloon during therapy.  There were many giggles.  :)  Thanks, Miss A!

Bertrand turns 5

Another year. Another emotional birthday.

Yesterday was Bertrand's birthday party, and it was by far his most favorite party ever. He stayed awake, interactive, and happy the entire time. :)

Today, on Bertrand's actual birthday, we all recovered from said party (with lots of snuggling), and reflected on our amazing little boy.

We will never take the time we have with him for granted.

A photo from yesterday's celebration--Bertrand's favorite birthday party!

When you were born, I joked that I loved you so much that I didn't care in which field you got your Ph.D.

I had no idea that by 5 years old, someone would end up getting their Ph.D. in you.

You've led many on a journey through extremes in the human experience.

Today, I'm grateful that you're still here to lead.

May it always be so.

Happy birthday! :)

--Matt (aka Daddy)

5th Annual "National Believe Day"

Bertrand and Victoria dropped off letters to Santa at Macy's. For each letter received, Macy's will donate $1 to Make-A-Wish Foundation. And on December 14th, their 5th annual "National Believe Day", Macy's will donate $2 per letter to Make-A-Wish.

Many of our dear friends have benefitted from the generosity of the Make-A-Wish Foundation, and it's quite likely that some day Bertrand will too.

"The Make-A-Wish Foundation grants the wishes of children with life-threatening medical conditions to enrich the human experience with hope, strength and joy. Based in Phoenix, the Foundation is one of the world’s leading children’s charities, serving children in every community in the United States and its territories. With the help of generous donors and more than 25,000 volunteers, the Make-A-Wish Foundation grants a wish every 38 minutes. It has granted more than 212,000 wishes in the United States since its inception in 1980. Visit the Make-A-Wish Foundation at wish.org and discover how you can share the power of a wish."

Macy's 5th Annual "National Believe Day"

MACY’S LOCATIONS ACROSS THE COUNTRY!

Date: December 14, 2012

Time: All Day

Friday, December 14, 2012 is National Believe Day! On this special day, children across the country with life-threatening medical conditions will be granted wishes at their local Macy’s store. You can join in on the magic that makes these wishes possible by visiting your local Macy’s store and dropping off a letter to Santa at the Macy’s Santa Mail Letterbox. On this special day, for every letter received, an additional $1 will be donated to Make-A-Wish up to $500,000. To find out more about Macy’s Believe campaign, visit www.macys.com/believe today!

Santa 2012: Naughty & Nice

"Disease in a Dish"

The latest episode of Developments to Watch, a collaborative video series produced byMedscape, is now available online: Disease in a Dish: The Ultimate Personalized Medicine.

In the video, Sanford-Burnham CEO John Reed, M.D., Ph.D., talks to Michael Jackson, Ph.D., vice president of drug discovery and development, about the Institute’s work on creating personalized “disease in a dish” models using stem cells derived from patients. They also talk about drug repurposing—finding new applications for existing therapeutic drugs in order to get treatments to patients faster.

Here’s an excerpt:

Reed: Tell us about this new breakthrough in stem cell technology that allows you to create “disease in a dish” models using cells derived from stem cells. What is it all about?”

Jackson: It’s a very exciting new advancement. It allows us to take patients’ own cells and, if a patient has a disease that affects those cells, to measure that defect. This is done through advances in quantitative microscopy, mixed with or alongside of robotic drug screening; the two together are quite a spectacular shortcut to be able to see whether a medicine we already have today that is being prescribed for one disease might have utility in another.

Now, you say, how could that be? There are a number of very spectacular examples out there of drugs that have been used or developed for one indication and then later on have been found to have a different clinical utility. In the specific example we’re talking about here with disease in a dish, we’re initially focusing on rare diseases. With rare diseases, the children’s cells all have a particular defect, and it’s that defect that we can actually recapitulate and rebuild in a dish, the so-called disease in a dish. Then, using robotics and screening technology and using the kind of equipment you’re seeing behind you here, to search in a systematic way and see whether any preexisting drugs that are already approved could move the needle and improve the defect in the child’s cells.

Watch the full video: Disease in a Dish: The Ultimate Personalized Medicine

Haircut

Bertrand gets a haircut in preparation of turning 5 this weekend.

IEP: 1st Goal Accomplished!

Every year, Bertrand has an individualized education plan (IEP) meeting before his birthday with the school district.  This year, several goals were modified, a few were added, and, for the very first time, one was accomplished.  Bertrand effectively and reliably can use switches.  To say "we are proud of him" is an understatement, but we'll say it anyway.  :)

Congratulations, Buddy!  

Mama and Daddy are so proud of you!

Little Elves at the Festival

This morning, we took the kids to the Festival of Trees.  They loved it!  On weekdays, Festival opens an hour early for people with disabilities.  We were able to easily navigate Bertrand's wheelchair among the aisles, he had an unobstructed view, and he was able to enjoy many of the trees and bright lights before the doors opened to the public at 10am.

Once the crowds came in, the expo hall got too loud, so Bertrand closed his eyes and shut down.  His sensory issues aren't as bad as they once were, but he can still get overwhelmed.  He wasn't the only one.  Once the hall got really loud and busy, Victoria began to meltdown, and we had to leave.  Still, it was a wonderful morning to spend with family and friends.  :)

The Festival of Trees runs through tomorrow at 10 PM.  If you get a chance to go, it's great!

The kids' favorite tree.

Ticket-Style Invitation

Photo courtesy of Wikipedia.

Bertrand's big birthday #5 is coming up.  Preparations are underway.  The theme this year is "Polar Express".  It was totally my friend Niki's idea.  (Thanks, Nik!)  Bertrand loves snow and he loves trains.

I'm pretty "old school" when it comes to invitations--I like paper.  So 1990 of me, I know.  ;)  But I suffered some major sticker shock when it came to the invitation styles I liked.  It quickly became clear that it'd be far cheaper (and much more fun) to make the invitations myself.

Victoria pulled the paper from the printer before the ink had dried, and smudged my anonymized sample ticket.
I'm too lazy to make another sample, but FYI I recommend doing this project WITHOUT a 1 year-old helper.  

They turned out pretty cute.  These ticket-style invitations would work for a variety of party themes.  They came together pretty quickly. So to save you from reinventing the wheel, this is how I made them.

To start, it would help if you had the proper materials.  I didn't.

• Cardstock (~$15 for 50 sheets. Each sheet makes 4 tickets.)
• *Ink Jet* printer (I mistakenly tried our laser printer first)
• Ink for said printer (Our printer is older than Bertrand--so was the dry ink inside.)
• 3/4-Inch Hole Punch (I liked the look of this size, but any hole punch should work.)
• Rotary Perforator (~$6.50)
• Paper cutter
• Large metal ruler (I had a tiny plastic one)
• Self-healing mat (I used a clean cutting board)

Step 1: Customize your template.
It took me over 2 hours to make the initial computer template, and another hour of printing and tweaking to get the spacing right.  I'm a Mac user so it's in Pages format HERE.  This is the hardest part, so you're welcome.

Step 2: Print on your card stock.
Card stock is too thick for most laser jet printers!  Use an ink jet printer.  Each 8.5x11 sheet will produce 4 tickets.  I recommend printing a single page at a time.  My printer still had issues with pulling the paper, so one at a time gave a better result.


Step 3: Trim (if necessary) and hole punch.
If the resulting image isn't perfectly aligned on the paper, trim it.  Then, I just eyeballed the hole punches at each of the anticipated seams using the guides on the hole punch.

Step 4: Cut apart the tickets.
I recommend using a paper cutter.


Step 5: Perforate the tickets.
You pull the perforator toward yourself along the side of the ruler.  Using a cutting mat instead of a hard kitchen cutting board would make your life easier.  So would using a large metal ruler.  (With a large metal ruler you could easily do this step before cutting the tickets apart.)

I think the perforation makes the ticket. 

Step 6: Ticket is complete.

I did the first batch of tickets at night while the kids were asleep.
I think you can tell that Victoria was in my lap for this sample batch. Sorry!

Step 7: For the truly OCD.

Since the envelopes I picked were the same color as the tickets, if I'd had additional time, I would've also lined the envelopes with candy-striped wrapping paper to provide some contrast.  There's a good tutorial HERE.  Yes, I deeply regret skipping this step.