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.
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.
Gentler.
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.
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!
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.
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:
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.
