November 29, 2015

Happy thanksgiving with NGLY1 -- and Bertrand's home!

Apologies for the delayed update!

Bertrand got out the hospital just in time for Thanksgiving, and he's recovering rapidly in his natural habitat.  Azithromycin worked!

Unfortunately, he developed an abrasion in his cornea from the forced ventilation, and that's requiring a lot of around the clock care to recover, but that too seems to be mending rapidly with Cristina's attentiveness.

We're hoping Bertrand will be well enough for school later this week.

We had a wonderful Thanksgiving with fellow NGLY1 family the Esteniks, who flew from Missouri to join us in Salt Lake and Park City!

It was one big happy family!

We're still pulling pictures off the cameras, but here's a few quick ones from last week:

Smiles all around -- and some overalls too.

Benji and Bertrand hamming it up.

Aunt Eileen made special shirts that spelled out NGLY1 - "We can solve it together!"

Uncle Carl has a real talent for making NGLY1 kids smile, laugh and reach their potential.

V and W build a secret weapon at the science museum.

November 21, 2015

Hospital update: Morning of Day 6: Good signs?

Bertrand had a rapid drop in O2 on Day 4, which sent him to the ICU.

It took 35 liters of oxygen to stabilize his O2.  ("A leafblower up his nose" is how I described it.)

Once stable, they switched him to a far gentler cpap machine and inserted an NJ feeding tube.

After some firm parental advocacy by Cristina, the medical team put Bertrand on azithromycin, something we'd requested since the start of the admission.

While we can't find indications of mycoplasma bacteria this time, azithromycin is also anti-inflammatory, and it has been what's pulled him out of the hospital every other time a lung infection has overwhelmed him.

Since nothing else has been working, it seems worth trying once more -- especially since the side effects are so manageable.

Except for a couple intrusions by the medical team, Bertrand slept straight through the night.

Today, I woke up to him giggling at the nurse around 5 AM.

He smiled at me, and then tried to rip his cpap mask off.

Seeing Bertrand alert and showing emotion means a lot.

While still on support, his O2, heart rate and respiration look much, much better today.

I'm keeping my fingers crossed that we can start gradually reducing his external support today or tomorrow.

This kid wants to come home.

The view from the hospital.

November 18, 2015

Hospital update: Day 3

Bertrand is on Day 3 of hospitalization with a severe respiratory infection.

It's become very clear having met other NGLY1 families that respiratory infections that spiral quickly are a major challenge for many of these patients.  Bertrand seems to end up in the hospital about every 18 months on average with an episode like this.  (Living at altitude probably doesn't help either.)

And, even though we could almost anticipate this would happen at some point and even though we've been through this before, this hospitalization has still been harder than most.

For starters, everyone is sick.

I'm sick.  Cristina is sick.  Victoria is sick.  Winston is sick.  Aury is sick.  My mom is sick.

Even the dog is sick.

Penny's had enough of this.
I did hospital duty the first night and ended up getting much worse.

I went to Instacare to beg (unsuccessfully) for antibiotics:

I've never been more annoyed to find out I didn't have strep.
My mom did hospital duty last night so Cristina and I could get some rest.

To make things crazier, there are at least two pathogens.   One is strep.  One is a virus.  Each of us has one or the other -- except Bertrand, whom seems to have both, plus pneumonia.

Normally, when Bertrand gets hospitalized, we can stabilize him in 24 hours, and then he starts to improve.

While we've stabilized Bertrand once again, he hasn't really started to improve at all.

His O2 hasn't budged much beyond the low 90s, and his breathing is just as labored despite regular suction, albuterol treatments, cough machines, percussion vests and manual pulmonary therapies.

Hooked up to lots of lung technology.

It's like wearing a lawnmower.

The attending physician believes Bertrand has asthma, in part because he responds well to anti-inflammatories during these episodes.

Complicating matters, he's having clinical seizures again.  While Bertrand's EEG remains abnormal, his clinical seizures had largely vanished for the past year.

And then yesterday, Bertrand had the worst episode we've seen in years.

Luckily, the medical team was rounding and able to witness it as it unfolded.

After witnessing for 5 minutes, they promptly ordered rescue medication (Atavan), which stopped the seizure instantly.  The seizure itself was close to 20 minutes by the time it stopped.

Today, Bertrand just hasn't been himself.  Normally, Bertrand is alert and cheerful most days.  Since getting sick, he's been largely out of it, and I think that the sideways progress is agonizing for all -- and Bertrand especially so.

Winston is done with this too.
On the other hand, we've been encouraged by the many people wishing Bertrand well from around the country and the world.  And especially by Bertrand's local fan club, including visits from Aunt Gina and Aunt Karen.

Thank you to all of you for your love, thoughts and support!

September 16, 2015

NIH-backed Undiagnosed Diseases Network launches!

The NIH-backed Undiagnosed Diseases Network (UDN) is launching today!

If you or someone you know has been on a challenging diagnostic odyssey, it's time to apply to the UDN:

The UDN is a nationwide extension of the NIH's highly successful Undiagnosed Diseases Program (UDP) to clinical and research sites around the country.

I've been working with this group of clinicians and researchers for the past year, and I can tell you that it's immensely talented and caring group.   They really do want to make a difference in the lives of patients.

Please spread the word!

September 13, 2015

(Almost) Wordless Sunday

Life continues to move at a pace faster than we can process.

Rest assured that despite our silence, good things are happening.  (In fact, too many good things might be the best way to describe it.)

Given the speed with which we're moving, it's important take a moment from time to time to appreciate the "little things."

I've been on the road almost continuously for many months now,  but I've found myself watching this video from the past month over and over, drawing from it a kind of strength that only flows from child to parent:

I hope you enjoy:

August 12, 2015

Wordless Wednesday

Bertrand is back in action with his intensive therapy!

June 4, 2015

Back at NIH

Bertrand and Winston have been hanging out at NIH for year 2 of the CDG protocol for NGLY1 this week. 

Here's a quick pic to show the two brothers in action. 

2015 has been a non-stop collection of sprints for the entire Might family. 

We're hoping things will even out sometime this summer!

April 20, 2015

Boston for Bertrand

Bertrand's runner, Pam (#28444) and her husband yesterday.

Today, Pamela Lynch (Bib #28444) is running the Boston Marathon for our sweet Bertrand.

In his name, she is raising funds for the NIH's Undiagnosed Diseases Network (UDN).

You can make a tax deductible donation through NORD to support the UDN and give undiagnosed families answers and hope HERE.

Pam is a regional manager for Genzyme, an amazing wife, mother to 2 kids, athlete, and an advocate for rare disease diagnosis, research and treatment.

Bertrand was supposed to be cheering her on today at one of the checkpoints in Boston.

Instead we will be FaceTime-ing with her from home as Bertrand's cold progressed to pneumonia, and we were unable to make our Friday flight.

(I'll update on this later.  He is feeling much better thanks to antibiotics but not 100%.)

We are honored to have her and the Running 4 Rare Team championing Bertrand, NGLY1 and the rare disease community.

As we well know, a diagnosis is the first step toward understanding, treatment and a cure.

The groundbreaking work the NIH's UDN is doing deserves all the support we can muster.

All families deserve answers.  They deserve hope.

Thank you, Pam!  Your Running 4 Rare is making a difference!  We love you!

April 7, 2015

Dubby's 9th Month

Just a quick post to share our adorable 9 month-old Danger Dubby.
His favorite song is "If you're happy and you know it." He requests it by clapping his hands.
Even sick (like he was in these photos), he is always happy!
He waves, blows kisses, and can point to body parts (eyes, nose, mouth, etc).
He is almost walking.  Eep!  He is fast becoming a toddler. *sniff sniff*
Everyone who meets him, loves him.  His parents most of all.  :)

All photos by Staci Cummings of Sweet Envy Photography.

February 9, 2015

HB 94: Utah "Right To Try" Act

HB 94 is Utah's "Right to Try" Act.  Right to Try allows terminally ill patients access to investigational medications and devices that have completed FDA phase one safety testing.

We are extremely grateful to Jonathan Johnson, Rep. Gage Froerer, the Goldwater Institute, and fellow rare advocates Jen and Stan Summers for helping to get this important piece of legislation to the floor.  

Many thanks to Jen (Talan's mom) for the photos!

February 5, 2015


I fell off the blog post wagon because THIS happened last week.

Kids are sick, Matt is out-of-town, but life is busy and beautiful.

PS-If you live in Utah, you better register for Rare Disease Day!

January 24, 2015

Sundance Stephanie

We were lucky enough to meet Stephanie D Fischer this week for Sundance!

We call her the "kid whisperer" because she charmed all 3 of the kiddos--the adults too. :)

Next time, Steph, you should just stay with us!

State of the Dubby Update:
Baby WJ turned 7 months on Monday. He can finally sign "more" and "milk".

January 16, 2015

Winston's 6th Month

Oh, sweet Winston.  Darling "Dubby".  My Little Prince.
I can't believe it's been over half a year since you entered our lives.
You are a joy in every dimension!

Strangers call you the "perfect Gerber baby"--and you really are.
Even teething (you have two!) or fighting a small cold, you are always content and smiling.
And you are always, ALWAYS on the move.

Last month you started crawling.  
This month you started climbing stairs and cruising.
You are feeding yourself with a *gasp* pincer grasp!  
(Sweet potato puffs are your favorite.)

What will next month bring?  Every day you change so much!
Your father and I marvel at everything you do and the little person you are.

We take nothing for granted.  
You're a gift.

Eventually, Victoria will come around to realizing that too.  ;)

While I wish I had taken more photos (like I did with Bertrand and even Victoria), I don't regret spending that time snuggling you instead.  :)

Mama loves you more than there are stars in the sky, little angel.

January 8, 2015

The only thing sexier than a minivan...

Our new mobility van: a 2015 Toyota Sienna with VMI in-floor, slide-out ramp conversion.
Bertrand is convinced that all the girls will love it.  ;)

January 1, 2015

Happy New Year 2015!

We wish everyone a joyful new year!

Resolution #1: Blog at least once a week.  Baby steps!