July 23, 2014

Out of the ICU: Ups and down


This is your lung on NGLY1.




Bertrand is into a regular hospital room.


He improved rapidly yesterday (as measured by his ability to breath with decreased assistance), to the point where I got optimistic he might go home.

Unfortunately, his oxygen kept dropping on room air, so they wouldn't release him.

Today, he's still having lower oxygen on room air alone, but it's only problematic when he's asleep.

It's likely he'll be discharged soon, but with a home oxygen machine and portable tanks.

The NIH sleep study results came back, and they showed 10 central apnic episodes per hour (and low oxygen overall), so we'll also be looking at more complete and permanent solutions for his breathing, especially at night.

July 21, 2014

What does community feel like?

The view outside of Bertrand's hospital room: a double rainbow.

The love and support from everyone has been palpable.

With all our heart, thank you.

Rushing Bertrand to the ER and the subsequent PICU admission were scary.

But, we've seen worse.

Bertrand is tricky to diagnose, but doctors managed to identify the cause of his illness quickly. And then to have it be bacterial and treatable? That is all good news.

The most surreal part of this entire episode has been that we had an NGLY1 community/family behind us for the very first time.
  • The Wilseys were the first to know we were headed to the ER--before our own families. 
  • The Leftwich family coached us on exactly what to expect and do with mycoplasma pneumonia and offered support. 
  • The German NGLY1 mom sent funny memes which cheered me up.
  • And, Pam Stinchcomb was my angel, holding my virtual hand through a mini breakdown. (The 19th was Winston's 1 month birthday. Will every one of his birthdays be in the hospital and all about his older brother? Will he resent Bertrand? etc.)

To be clear, we've always felt love and support from our friends in the broader rare disease / special needs / undiagnosed community, but to have people who knew *exactly* what we were going through, and *exactly* what we were feeling? It was transcendent.

I'm overwhelmed with gratitude and joy.

July 20, 2014

In the PICU: Stabilizing

A very happy Bertrand, only days ago.  Photo by Phil Toledano.

Bertrand had a rough night, but I think it was largely because he wasn't allowed to eat.  The concern was that he was still at risk from aspiration during intubation.

During rounds in the morning, I explained that much of his current distress was now due to hunger. (Bertrand's hunger cry is distinct from his pain cry. And, I pointed out that he kept trying to eat the tubes near his mouth.)

I convinced them to start him on a little Pediasure through his nasal-gastric tube, and he stopped crying in minutes.  He's now on a continuous feed and has been relatively peaceful.

In fact, he's slept most of the day, after about 36 hours of being too uncomfortable to rest.

He's awakened every two hours to vacuum out his lungs.  It sounds about like throwing a wetvac in a swamp, and while it's uncomfortable, he clearly feels (and breathes) much better afterward.

The mechanical respirator hums in the background, giving Bertrand's breathing a Vader-like quality.

Bertrand's vitals have steadily improved since this morning.
His heart rate periodically dips into the normal range; his blood pressure is normal; his oxygenation is at 91% with only 40% assistance; and his breathing is much less labored.
The labs from this morning showed that the infection is not worsening, and it's expected to improve steadily from today.
Our hope is that he'll improve enough to be transferred to a regular room tomorrow.

July 19, 2014

Off to the ER: Mycoplasma (bacterial) pneumonia


Bertrand's streak had to end at some point.

Bertrand hasn't been hospitalized (for illness) in over two years -- since about the same time as his diagnosis as NGLY1 deficient.

But, we're back.

Bertrand has had a mild cough for about a week.  We've all had it to some degree.

Bertrand doesn't get sick often, but when he does, he usually recovers normally and without assistance.

As in the past, Bertrand seemed to be stable or mending.

Last night, his symptoms worsened precipitously.

He was crying, coughing and refusing liquids (but not solids).

Cristina and I were up all night on and off tending to him and Winston.

Shortly after his breakfast, Bertrand's eyes, nose and lips started turning bluish purple, he began crying unconsolably and his body was racked by tremors.

We couldn't tell if it was a seizure or an aggravation of his movement disorder, but whatever it was, it was definitely new.

We tried to get a reading on his oxygen with his a pulse oximeter, but he was shaking so violently that we couldn't properly attach the lead.

So, we piled into the car and drove to the ER.  (We very deliberately live only a minute a way from the pediatric ER.)

I carried Bertrand through the door, and after looking at him for three seconds, the admissions specialist escorted us directly to an open trauma room.

A platoon of twelve docs, nurses and specialists descended on Bertrand.

Given his purplish discoloration, he was placed on manual ventilation instantly.

Seconds later two IVs were in.  (I still don't know why they did two.)

Specialists and nurses started attaching leads and tubes so fast that I couldn't track what was being done to him.

A few minutes after entry, Bertrand looked like the Borg again.

Heart rate was tachycardic and rising.  Body temperature was 102 F.  Blood pressure was low and plummeting.  Oxygenation was in the 80% range.  Breathing was painful and labored.  They kept referring to poor perfusion from his mottled skin.

A single tear rolled out of Bertrand's right eye.

We began trying to explain Bertrand's medical history to the resident and the physician, sorted by most to least relevant information for the evolving emergency.

As Bertrand's breathing worsened, the physician pulled us out of the room to speak with us in private.

"Since he has a serious genetic condition and it looks like he may need a breathing tube shortly, I want to know if you would like to allow the assisted respiration.  I apologize for asking, but with these sorts of conditions, I have to check."

Cristina and I had been asked to consider putting "do not resuscitate / do not ventilate" directives in Bertrand's medical file years earlier.

We didn't even have to look at each other before responding: "Intubate him. If necessary. Whatever it takes."

Cristina added defensively, "He's normally very happy. He has a great quality of life."

The attending ER physician felt he was having a seizure (as did we), so she gave him Ativan (Lorazepam) as a rescue medication.

The tremors subsided momentarily.

Even as the IV fluids went in, his blood pressure continued to drop.

They gave him more fluids.  No effect.

As his blood pressure neared critically low levels, the physician put him on dopamine.

It worked.  His blood pressure started rising.

The manual respiration had his oxygenation back up to 99%: his lips, nose and eyes were pink again.

His heart rate stayed elevated, but no longer dangerously so.

The tremors continued, but it seemed like the rest of Bertrand was stabilizing.

The tension in the room visibly eased.

The phlebotomy team collected blood from his feet.  A catheter went in.

After about an hour, Bertrand had passed out, so they transferred us to the pediatric intensive care unit (PICU).

Waiting for the elevator, no one spoke.  For first time since we walked in the door, we had silence.

Up in the PICU, they informed us that Winston would have to leave, since children were not allowed.

Under significant protest, Cristina left me in charge.

About half an hour after getting into the PICU, the resident told the nurse, "Mycoplasma pneumoniae."

I jumped in: "That's bacterial, right?"  (I knew it was bacterial, because I'd looked it up three weeks earlier when I found out that another NGLY1 patient had had it.)

They confirmed and said that ordinary antibiotics would not work, since mycoplasma lack the cell wall targeted by many antibiotics.

Cristina was googling at home and had already discovered that they were likely to recommend erythromycin (or a variant).

Unfortunately, that induced (potentially fatal) long QT syndrome in Bertrand's heart about four years ago.

When they came back, they said they were going to start azithromycin (a variant on erythromycin).  I explained the issue with his heart and long QT.

After consulting with pharmacist and Cristina by text, we went with azithromycin (over worse options), but under careful cardiac observation for five days, with a baseline EKG taken immediately.

While waiting for the azithromycin, a respiratory team suctioned out his lungs, and they were able to lower his oxygen a little after that.

Bertrand is now relatively stable and on pain medication, but they're withholding food until his lungs improve.

He's hungry and uncomfortable, but he looks a lot better than he did this morning.

I'm optimistic that Bertrand will respond quickly to the antibiotics, but it's going to be a long five days for him.

I would hardly call us complacent in the search for a treatment.

But, this and recent events with other NGLY1 patients are a reminder of just how fragile these kids are and of the urgency of finding a viable treatment.

Once Bertrand is well and home, we'll resume the hunt with haste.

July 18, 2014

NGLY1.org Facebook Launch

Yesterday, we launched the NGLY1.org page on Facebook to facilitate N-glycanase (NGLY1) deficiency family-researcher interaction and provide support.

We invite everyone to join.  The page will be a public one, but we reserve the right in the future to make it private if necessary.

In 2012, we launched NGLY1.org as a resource for clinicians, a means of finding new N-glycanase deficiency patients, and a way to support their families.

We will continue to promote N-glycanase deficiency, so patient families will be able to find our community and receive the same support we find so valuable.

We are no longer alone.  :)

July 17, 2014

Bertrand's story hits The New Yorker!

Our family is grateful to journalist, bestselling author and MIT professor, Seth Mnookin.  His time, thoroughness, and dedication to the NGLY1 story were astounding.  We are also indebted to The New Yorker.  Their staff of editors and fact checkers left us awed.  This was a work of true, old-school journalism.  We're proud to be a part of it.

ONE OF A KIND

What do you do if your child has a condition that is new to science?

BY SETH MNOOKIN
JULY 21, 2014

Until recently, Bertrand Might was the only known patient with a certain genetic disorder. His parents began searching for others.
Until recently, Bertrand Might was the only known patient with a certain genetic disorder. His parents began searching for others. Photograph by Phillip Toledano.
Matt Might and Cristina Casanova met in the spring of 2002, as twenty-year-old undergraduates at the Georgia Institute of Technology. Cristina was an industrial-design major with an interest in philosophy; Matt was a shy computer geek obsessed with “Star Trek.” At first, Cristina took no notice of him, but the two soon became friends, and that fall they began dating. Within a year, they were married.
The couple had their first child, a son, on December 9, 2007, not long after Matt completed his Ph.D. in computer science and Cristina earned her M.B.A. They named him Bertrand, in honor of the British philosopher and mathematician Bertrand Russell. After a few blissful weeks, the new parents began to worry. Matt and Cristina described Bertrand to friends as being “jiggly”; his body appeared always to be in motion, as if he were lying on a bed of Jell-O. He also seemed to be in near-constant distress, and Matt’s efforts to comfort him “just enraged him,” Matt says. “I felt like a failure as a father.” When the Mights raised their concerns with Bertrand’s doctor, they were assured that his development was within normal variations. Not until Bertrand’s six-month checkup did his pediatrician agree that there was cause for concern.
By then, Matt had a new job, as an assistant professor at the University of Utah’s School of Computing. It took two months to get Bertrand on the schedule of a developmental specialist in Salt Lake City, and the first available appointment fell on the same day as a mandatory faculty retreat. That afternoon, when Matt was able to check his phone, he saw that Cristina had left several messages. “I didn’t listen to them,” he told me in an e-mail. “I didn’t have to. The number of them told me this was really bad.”  
Read the rest HERE.

July 15, 2014

Photo Outtakes


The Rule of 3: When taking photographs of three children, at most two will respond appropriately.  ...and the other(s) will be staring off distractedly or screaming.












I love these photos.  
They capture the perfectly imperfect, happy, craziness that is us.