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!

The brothers work out together.

Bertrand loves playing with this new ball from his German best friend! Meanwhile, baby Winston listens to the laughter and does some tummy time.  These are some hardworking brothers.  ;)

Benefit for "Aware of Angels"

Aware of Angels is a non-profit organization focused on raising awareness and increasing research of rare disorders, while providing support for patients and their families.

For the month of June, Elenity is donating 50% of it's profits to Aware of Angels. All products purchased on Elenity are fair trade, eco-friendly, manufactured in the USA, or support a nonprofit organization through the manufacturing process.

Upsee: First Impressions

Bertrand's expression here: "Whoa! I'm standing up!"

The Upsee is a "mobility device that lets children with motor impairment stand and walk with the help of an adult".  It is a brand new product that is all the rage in the special needs community--and for good reason!

We've had the Upsee for over a week, and I can't say enough good things about the product or the company.

As I see it, Firefly by Leckey, the maker of the Upsee, is the Apple of special needs products.  The marketing, branding, and packaging of the Upsee have all been top notch.  (The unboxing of the Upsee was glorious!)  More importantly, the product itself is of the highest quality, intuitive to use, and supremely effective.

At $489, the Upsee is by no means an inexpensive product but, compared to other special needs devices, it is a bargain!  (A wheelchair like Bertrand's will run $8,000, and other gait devices run upwards of $3,000.)

Bertrand has really enjoyed being in the Upsee, and is building up his endurance.  We plan on sending it to school with him daily so that his classmates may also benefit from using it.

Now I Can Session: July 2013

The folks at Now I Can just sent us the video of Bertrand's session last July. A month later, he was sitting up on his own. Way to go Mr. B!

2013 Wasatch Reptile Expo

Titi Aury and I took the kids to the Wasatch Reptile Expo today, courtesy of Hope Kids.

Honestly, I didn't know what to expect, but figured that since Aury loves reptiles, we should go.  Victoria was a bit overwhelmed by everything, but Bertrand LOVED it!  He got to touch snakes, tortoises, and an alligator.  You can see how much he enjoyed holding a 17 lb. python below.  :)

The expo was not limited to reptiles.  There were amphibians such as tree frogs, "exotics" such as hedgehogs and ferrets, plus a dazzling array of bugs--many as big as my hand.

Aury is already planning on attending the expo next year.  Her eye is set on a pet corn snake.

Victoria's favorite animals were the tree frogs.

Bertrand's favorite animals were the snakes!  Who knew?!

My favorite?  The terrariums. ;)

The expo was much larger than we anticipated--two floors packed full of exotic animals.

Bertrand uses a spoon

New milestone: Bertrand uses a utensil!
While working with his occupational therapist, Miss V, Bertrand took about 20 spoonfuls of yogurt.

As you can see in the video, he held and guided the spoon under his own power!

It wasn't long ago when something like this seemed completely impossible.

We are proud of Bertrand for all the progress he has made in the past couple months!

Sitting Proof

We have been trying to catch Bertrand's new sitting skill on video for weeks now.  Each time we pull out the camera, he stops.  Every time we put the camera away, he sits.  His therapist Miss C finally caught it on video for us--as Bertrand was complaining about the slow service on his dinner. It's amazing that he can even sit up when angry at the waitstaff (read: me)!

Signing Time Concert

On August 31, 2013, our family was fortunate to attend a Signing Time Concert near our home.  We have long been Signing Time fans--especially Bertrand and Victoria.  In fact, we have met Rachel Coleman in person before, at a benefit for Project Ghana. 

In the video* below, Rachel is singing her lovely version of Twinkle Twinkle Little Star.  At about 1:40 into the video, as she sings the line, "I've always believed in you", she points directly at Bertrand, and I start to cry.  Her voice then wavers with emotion as she sings, "you are my shining star."

It was a concert and memory we will treasure.

* I took the video with permission!  No, I did not bootleg Signing Time.  ;)

Daddy teaches Victoria how to ride a trike.

More Porchfest 2013

She already dances better than both her parents.  ;)

Hard Working Man

Buddy is one hardworking man.  :)

Meet the folks at Dr. Freeze's lab.

This is a video of the scientists working in Dr. Hudson Freeze's lab at Sanford-Burnham Medical Research Institute. They're talking about their inspiration: the patients with Congenital Disorders of Glycosylation (CDG). CDG is the group of genetic disorders in which Bertrand's disorder, N-glycanase deficiency, roughly fits.

The second person in the video is our beloved Dr. Ping He! He is running most of Bertrand's experiments, and we couldn't be more grateful to him, Hud, and everyone else in the lab.

The patients may be their heroes, but they are ours.  :)

Cousin Time & "Talking" Time

Nothing quite like some adorable kiddos playing together to make things seem right in the world again.  The first two videos are of Bertrand and his 5 month-old cousin Gabby playing together. The last video contains some of Bertrand's funny vocalizations; the panting in particular is new within the past month.
(Please ignore my silly mommy/auntie commentary.)

"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

Now I Can Session: August 2012

The folks at Now I Can just sent us the video of Bertrand's session last August.  It's amazing to see what progress he has made since then.  He is a champ!

A very different 16 months

The last few weeks, Victoria has been obsessed with a video of Bertrand's first hippotherapy session.


Almost every morning, she will scale out of her crib like a ninja (Yes, the crib is on the lowest setting and there are no bumpers, she's just ridiculous. I promise we've tried everything.), she'll run over to Bertrand's bed, climb into bed with him, snatch his iPad from the charger on the bookshelf, and we'll wake up to the sounds of this video--on repeat.

(It's cute, but trust me, the music gets old.)

We'll walk in to find both kids watching together.  You can ask Victoria where Buddy is in the video and she'll point to him on the horse.  Sometimes she'll clarify, making the baby sign, that it is baby Buddy.

It occurred to me, based on the amount of hair Bertrand had in the video (not much, like his sister), that he was about 16 months-old at the time it was taken--the same age as Victoria right now.

Wow.  What completely different 16 month experiences for each child--AND for us as parents.

I went back and read the blog posts for that month of April 2009 and cried.  It was heartrending.

There were many "firsts" that month.  Yes, it was a first for hippotherapy.  It was also the first time we took Bertrand to Duke University, and the first time we directly heard from a doctor that Bertrand's case was basically hopeless.

And here we are 3.5 years later.  In some sense not much has changed--Bertrand's condition was recently reconfirmed as untreatable and fatal.  And yet things are totally different.

For one, I'm a lot more tired and older.  :)  But now clearly words like "brain damage", "surgery", and "fatal" don't phase me as much, if at all. Heck, more than words--broken bones, hospital stays, travel across the country to see specialists, attempting to do the impossible--it's just what we do.

We deal.  Maybe it's still denial  ;)  but I prefer to think we've finally reached a kind of peace.  We're comfortable with doing what we can rather than obsessing about what we can't.

Maybe it's finally having a diagnosis?  Certainly Bertrand's fighting spirit can be credited.  I also credit a certain spunky little sister.

Often I feel like Victoria (perhaps like many 2nd kids?) is given the short shrift.  She certainly doesn't get to ride horses, go to musikgarten, get a dozen one-on-one therapy sessions a month, or even get the same one-on-one time with her parents that Bertrand did.

But somehow Victoria, the tiny force of nature, is doing just fine.  And, Bertrand?  He's doing fine too.  Both kids are making their mark on the world in their own way.  And, this mama is proud of them both, now and always. :)

Wordless Wednesday

Now I Can Session: May 2012

The folks at Now I Can just sent us the video of Bertrand's session last May.  It was exactly what we needed today. Our boy is amazing. Watch and see. :)

Tag! We're alive.

Bertrand's new walker arrived today! He'll practice with it during therapy.

There is a lot going on.  We're starting up a fellowship through Dr. Hudson Freeze's lab at Sanford-Burnham Medical Research Institute to identify and test treatments.

More potential cases of N-glycanase deficiency have been identified and are currently being tested at Duke University.

One of the cases is a 13 month-old boy.  Learning about this little baby, I've grown even more desperate to find a treatment.  In my mind's eye, this is who I see:




We must find a treatment.