November 30, 2012

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.

November 29, 2012

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.

November 27, 2012

Accessible Winter Family Vacation

The National Ability Center is where Bertrand does his hippotherapy in scenic Park City, Utah. The NAC is offering fantastic opportunities for family winter fun--regardless of age or ability. They can make any winter sport an accessible one!  Can't wait until the kids are older so we can give this a try.  :)  People from around the world visit this beautiful facility.  Financial Scholarships are available.

November 26, 2012

The 1st World Conference on Congenital Disorders of Glycosylation for Families and Professionals

Where: Barcelona, Spain
When: on 1 September 2013

The 1st World Conference on Congenital Disorders of Glycosylation for Families and Professionals as a part of the programme of the 12th International Congress of Inborn Errors of Metabolism.

The 1st World Conference on Congenital Disorders of Glycosylation for Families and Professionals will bring together the healthcare professionals who study the scientific and medical aspects of this growing family of diseases, and the patients with their families. “This conference is particularly important” said Vanessa Ferreira, sister to an affected patient. “Advances in technology are going to have a profound impact on the CDG field, causing a rapid growth of our knowledge on the types of CDG and on the variability of their clinical spectrum”.

The conference will cover topics relevant to a better understanding of these rare diseases by the affected families. There will be state-of-the-art presentations on clinical care, on biochemical and genetic diagnosis of CDG, on therapeutic approaches, on animal models and on current supportive therapies.

Several leading healthcare professionals will participate. Professor Jaak Jaeken, will deliver a keynote speech about the main aspects of CDG knowledge acquired in the past, with messages for the future.

This unique conference promises to motivate, educate and promote sharing and participation, built on the success of previous conferences organized by the Portuguese Association for CDG and other rare Metabolic Diseases (APCDG-DMR).

“The 1st World Conference on Congenital Disorders of Glycosylation for Families and Professionals: a booming story of sugar trees” “aims to share experience and to unite families from different regions and countries. In addition, this conference will be the first in which several CDG patient representatives and professionals from all over the world will be involved in the organization and coordination of the conference”. said Vanessa Ferreira.

The organization encourages experts on metabolic diseases to attend, especially those that have families affected by CDG. There are oral communications on 6 themes, designed to foster reflection and discussion amongst CDG families and professionals.


We're very excited!  Hopefully, at least Matthew and I will be able to attend this conference!

November 25, 2012

Saving Buddy

Wow! Bertrand made the front page of the Salt Lake Tribune!  Read the great article HERE.

November 24, 2012

Breakfast with Santa

Bertrand was happily yodeling in this photo.  Santa had on jingle bells, and Bertrand LOVES jingle bells.
Victoria, on the other hand, burst into tears seconds after this photo.  We couldn't stop laughing.  Sorry, V!

November 22, 2012

Lymphoblastoid Cell Line

In Sanford-Burnham’s Conrad Prebys Center for Chemical Genomics, scientists use robots like this one to test hundreds of thousands of chemical compounds on lymphoblastoid cell lines in search of tomorrow’s new medicines.

We received word this morning that Bertrand's lymphoblastoid cell line (LCL) has finally been established at UCLA!

LCLs are used as a model system to study the genetics of gene expression, drug response, and other traits in a controlled laboratory setting.

With a somatic mutation rate of 0.3% and ease of cell maintenance, lymphoblastoid cells are still the preferred choice of storage for patients' genetic material.

In Bertrand's case, the LCL will be renewable source of his genetic material (no more blood draws!) so researchers around the world can study N-glycanase deficiency.

Bertrand's team of researchers will be able to use his LCL within the Conrad Prebys Center for Chemical Genomics to rapidly test thousands of existing FDA approved compounds to see if there is any drug already on the market that will increase his amount of N-glycanase expression or increase his rate of glycoprotein degredation.

Wow.  Welcome to the future.  :)  Happy thanksgiving!

November 16, 2012

Sabrina's Baby Shower


Here are some photos of my sister Sabrina's baby shower on October 27th.  Less than a week later, little Gabrielle was born.  (Phew!  Talk about cutting it close!)

Since this was my first time being an aunt, I threw myself into this shower. (Thanks, Pinterest.)

Cristine (my friend Niki's sister) made the gorgeous cake. (I am not that talented.)
As usual, Staci (coincidentally Niki's sister-in-law) took the photos.  (I forget to take photos.)

Several attendees begged me to post the photos, so here they are!
Enjoy.  I wish you all could've been here.  It was fun.  :)  

Congratulations, Saby!




















November 14, 2012

First Cousin Encounter

Everyone keeps asking about how the kids liked their new cousin, Gabrielle.  Some day when Victoria and Gabrielle are best friends, we're all going to laugh about it.  Let's just say, Victoria was not happy about being displaced as center of attention.  Bertrand on the other hand was genuinely curious about the baby.  He seemed to really like her.  We'll see how long that lasts though, because I imagine it won't be long until TWO little girls are trying to sit in his lap.  :)

"Hm. I like this one.  She's quiet, and she doesn't sit on me."
"I approve!"
"Wah! *I* am the baby!  Wah wah wah! Wait, is that a camera? Okay, I'll smile."
"What's the fuss about?  Me?! Oh, yeah, I'm darn cute."
V - "I LOVE my big brother! He's the best!"
B - "Mooooom!  She's sitting on me again!!!  Ugh."

November 12, 2012

A Brag-Full Post

In the spirit of the season, this is a thankful brag-full post.  ;)  Bertrand has been on an amazing streak.  Yes, more amazing than usual, if that was even possible.  Our hearts are overflowing with gratitude.  We are also downright proud of our boy.

Bertrand is happier than ever.  He is making new vocalizations, clearly recognizing faces, and playing little games with us.  He is totally into peek-a-boo and tickle monster, even with Victoria.  He is tolerating her and other kids better than ever.  In fact, he showed more interest in baby cousin Gabrielle than Victoria did!

Bertrand is eating solid foods.  In July, after his tonsillectomy, he had an understandable set back, but now he is doing better than ever.  For the past week he has been eating (a finely chopped version) of what we've eaten every night!  And, we've engaged his teachers to work on him with more textures during snack time too.

Bertrand is on the cusp of sitting unaided.  This has been his oldest and first therapy goal, and he is closer than ever to accomplishing it!  We're videotaping every therapy session because we've convinced it will happen by December.  Just wait and see.

Bertrand is weight-bearing.  Today I found him calmly watching Elmo on his iPad--at the edge of his bed standing up!  He'd apparently been falling out of bed, but instead of falling he just stood!!! When I found him like that, just holding on to the bed standing, I was petrified!  I wanted to run for my camera but didn't want him to fall.  So, I just stood there, yelling for Matthew to bring the camera and crying praising B.  By the time a shocked Matt finally arrived (sans camera! grr!) to witness the greatness, B was tiring, so you'll just have to take our word on it.  He was amazing!

We've tweaked many little things over the past few months (supplements, seizure meds, diet, etc.), but hands down none of this would be possible without Bertrand's amazing therapists.  Miss A and Miss V are without a doubt the greatest contributors to Bertrand's recent progress... and our happiness.  So, to Miss A, Miss V, and everyone else helping with and cheering for B:


November 8, 2012

P.S. I Adore You

A friend of a friend just started the company P.S. I Adore You.  

It's kind of like Zulily but a portion of the proceeds go to fight childhood cancer.  

You get a great deal.  Kids get funds to fight cancer.  Win. Win.

I am NOT at all compensated by P.S. I Adore You, but I DO think the company seems awesome.  

And, I kinda wish the python print loafers I just bought for Victoria were in my size.  Just sayin'.  :)