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.


  1. Bertrand is a fighter and you are great parents!!

  2. Very, VERY glad that Bertrand's taken a turn for the better. We'll be keeping all of you in our thoughts. Love from Seattle.

    1. Thanks, Marian! He is watching Elmo, so he's clearly already feeling better. :) Love you guys!

  3. Hope he feels better soon and gets to return home to his little sister and brother.

  4. They often put in two IVs in an emergency situation like that in case they need to administer two meds that are incompatible (they can crystallize in the line) or to avoid interruption of critical medications in case one fails.

    I'm sorry to read that your family went through something so scary. Glad to hear Bertrand is doing better, and I hope he is more comfortable soon.

    1. Thank you for the explanation, A! That makes perfect sense.

      Bertrand sounds better and seems to be feeling more comfortable already. :)

      Thanks again!

  5. Thinking of Betrand today and hoping he feels better. - Eleanor's mom

    1. He is feeling much better today. Thank you! :)

  6. Just read the New Yorker piece, and your family has shown great courage and determination!

    My thoughts are with Betrand!

  7. You are awesome parents! Bertrand is fortunate to have you and innumerable others' lives are bettered by your generosity and tenacity! We wish Bertrand the best (which, for parents, he very nearly has)!