December 17, 2014

Bertrand turns 7!

Things have been a little hectic with the arrival of number three -- so hectic in fact -- that it's taken us a week to post on Bertrand's amazing 7th birthday!

Courtesy of the amazing Szajnuk family, Bertrand spent his 7th birthday meeting the Utah Jazz players!

We arrived for the pregame warm-up, and Bertrand got to sit on the court:

The players came over one by one to wish him Happy Birthday, sign his basketball and take a photo with him!

The Jazz then went on to beat the Spurs in honor of Bertrand's 7th birthday!

Bertrand and Victoria had a total blast cheering on the team to victory!

What an amazing 7th birthday!!!

November 24, 2014

A Smile Worth Sharing - 2014

Bertrand's photo for first grade, age 6, 2014-15 school year. The following are school photos from 2011-12 (preschool age 3), 2012-13 (preschool age 4), 2013-14 (kindergarten age 5), and proof that Bertrand is an increasingly happy guy!

I still want to eat these sweet little cheeks!

November 13, 2014

Face of Cannabis

Can you spot baby Winston?  :) (Photo credit The Salt Lake Tribune.)
Just a quick post to let you know we are alive but busy!  Yesterday we hosted an event for the "Face of Cannabis" Project on behalf of the Epilepsy Association of Utah and Hope for Children with Epilepsy at the wonderful Holodeck.  It was a joy and honor to work with the talented Nichole Montanez and the 22 Utah families who came out to share their stories and support.  Together, we will keep fighting to make treatments available to all kids who need them!

September 9, 2014

3rd Annual RARE Patient Advocacy Summit

The Global Genes Project’s 3rd Annual RARE Patient Advocacy Summit will be held Sept. 11-12 at the Hyatt Regency Resort & Spa in Huntington Beach, CA.
It’s a chance to learn all about being a patient advocate, proactive and productive in efforts to better the lives of those with rare disease; to be an effective advocate in lobbying elected officials and reach out to major pharmaceutical companies, forming a relationship to bring drugs to patients.
More than 200 participants are expected to attend. For those who can’t be there in person, the conference is also available to view via Livestream. To register for the FREE Livestream Event, please go to:
This year’s sessions include:
  • Caregiving: Strategies for Staying Afloat, Presented by Caregiver Action Network
  • The E-Patient Revolution, Presented by Health 2.0 and Smart Patients
  • Patient-Centered Benefit-Risk Assessment, Presented by FasterCures
  • Making your organization an “Unstoppable Charity”
  • Lobbying at the State and Federal Level
  • Transition & Transformation with Rare Disease from Adolescence to Adulthood.
  • Must Have Collaborations for Successful Drug Development

 Two new sessions this year:
  • Deep Dives: Branched-off discussions that will allow small groups to interact with subject matter experts to help them go more deeply into the content of each session have been added to the agenda.
  • Science Briefs: 15-minute science pitches with 5 minutes of Q&A, discussing some of the most promising innovations in science.

Those who watch on Livestream can participate via twitter and Facebook using the hashtag #2014GGSummit.
Read more about the summit hereTo register, visit

August 5, 2014

Neuroworx Consult

This summer we're finally getting Bertrand out to Neuroworx, a local rehabilitation center that focuses on spinal/neurological physiotherapy.  For years we've heard nothing but good things about Neuroworx from Bertrand's friend Noah.  We're excited to see how Bertrand does with different equipment in a different environment.

At Neuroworx Bertrand is going to try the Lokomat.  "The Lokomat provides intensive locomotion therapy for the treatment of children with cerebral palsy or other neurological disorders."
Why introduce robotic locomotion therapy?
• Functional movement and sensory stimulation play an important role in the rehabilitation of neurological patients following stroke, spinal cord injury, traumatic brain injury, as well as in patients with multiple sclerosis, cerebral palsy or other neurological disorders.
• Administering intensive functional locomotion therapy with manual training requires sufficient staff, is labor intensive and allows only relatively short training sessions.
• Manually assisted gait therapy can be challenging, especially in obese patients or in patients who are spastic.
• Gait pattern and guidance force are individually adjustable to the patient’s needs to optimize the functional training
• Improved patient motivation through visualized performance feedback
• Assessment tools allow easy and reproducible measurements of the patient’s progress
• If needed – easily switch from automated to manual therapy

July 29, 2014

Update: Life after ICU

Photo of Bertrand from last Wednesday.  He was happy to be home!
(Yes, the shirt says "chicks love me."  Thanks, Abuelita.)
Bertrand came home from the hospital last Wednesday.  His bedroom obstacle course includes: pulse oximeter, oxygen concentrator, 5 tanks of oxygen, suction machine, and all the tubes, probes, stickers, and doodads that accompany the former.

Despite the accessories, Bertrand is doing very well!  He is down to nighttime oxygen only (but he refuses to leave the nasal cannula in).

Antibiotics are amazing.

Bertrand wasn't the only one on antibiotics.  Victoria also tested positive for mycoplasma, and it is suspected that my 7 week long "cough" was as well.  (Cue the mommy guilt for inadvertently infecting the kiddos.)

Meanwhile, Matthew had big deadlines at work (and a birthday), we've been fielding an avalanche of emails, and oh yeah, we have a 5 week-old baby.

Please forgive us for the delay.

If you have sent an email, I promise we will get to it.  :)  But, it wouldn't hurt to follow-up.

Winston in one of my baby blankets made by Abuelita Elisa.
Yep, it's blue.  Everyone thought I was going to be a boy.  Surprise!