Complications from Depakote

The likely culprit for Bertrand's recent hospitalization was depakote.  This has been the most effective seizure medication for him to date, but it has many nasty side-effects.  We were aware of many side-effects, including liver damage, and were monitoring him for symptoms.  Now we have to watch for a few more: hyponatremia (low sodium) and bone marrow suppression.

Bertrand caught a typical virus.  (He goes to preschool, therapy, dance, playgroup... he could've caught a bug anywhere.)  And then entered a vicious cycle, due to undiagnosed hyponatremia and bone marrow suppression.  The hyponatremia alone could've killed him.  Normal values are 135 mEq/L.  He was at 4 mEq/L.  The bone marrow suppression resulted in low counts for all blood cell types--white, red, and platelet.  To fight an infection, you need plenty of all of the above.

We are incredibly lucky that Bertrand got sick exactly when, where, and how he did.  He was already in the hospital (for a different procedure), with the A-Team for doctors.  They acted fast, and he is now on the mend.  Bertrand sure knows how to keep things interesting!



A few more items learned from this week:

The targeted dosing greatly changed Bertrand's nighttime EEG!  He is no longer in status epilepticus at night, which means the valium protocol is no longer right for him.

The looping episodes, of which multiple were caught on EEG, are NOT seizure activity.  In fact, Bertrand's EEG is almost normal at those times.  These are periods of alertness and a manifestation of his movement disorder.

Once Bertrand is well, we will conduct another sleep study to see if apnea is waking him at night, thereby triggering those looping episodes.

We will also see about lowering/eliminating Depakote, and/or we may continue to tweak his medication dosing to target the night seizures better.  As a substitute for Depakote, Bertrand may try Clobazam.



Next Monday, Bertrand has appointments with his pediatrician and his metabolic doctor to follow-up.  He'll be getting labs drawn then too.

To be on the safe side, I've ordered some salt tablets for him.  Each pill contains: 215 mg sodium, 63 mg potassium, 11 mg magnesium, 22 mg calcium, 100IU Vitamin D.  Bertrand can take 1,200mg of sodium per day, so depending on what he has to eat on any given day, he may get 1 or several.

Paranoid much? me?!  Nah.

Discharged

Hospication* Update

Victoria (with titi Beli's help) made a card for Bertrand.

I'm exhausted, so here's the quick overview:

• Bertrand is hospitalized with no discharge set.
• The valium protocol is on indefinite hold.  (This may actually be for the best.  More on this later.)
• Bertrand's temperature and sodium (which was very low) are normalizing.  
• His WBC, RBC, platelets have all come back low and liver values have re-elevated.
• A working theory is that depakote may have slowly given Bertrand hyponatremia (low sodium) which could be exacerbated by a virus.
• Another less likely theory is sepsis.
• A blood culture is pending.  Other cultures (strep and urine) have returned normal.

* A light-hearted explanation of the term "hospication" (hospital + vacation) can be found on my friend Niki's blog HERE.

Valium Protocol - Failure to Launch?

Bertrand battles a possible UTI as well as seizures.

As mentioned way back when, Bertrand was to undergo the Valium (aka Riviello) Protocol.

Maddeningly, the neurology team at our hospital fumbled his admission for months.

So, the head of pediatric neurology decided to oversee Bertrand's initiation himself.

This afternoon, Bertrand was finally admitted for the procedure.

And promptly developed a fever and possible infection.

He is currently being evaluated for strep and UTI.

Depending on Bertrand's condition tomorrow, the protocol could be halted before it even began.

Seeing Bertrand sick is sad, but the thought of months more seizures is heartbreaking.  :'(

Here's hoping our little buddy gets well soon.

The Return of Atonic Seizures

The last 5 seconds of the video capture the drop attack.

For the past couple of weeks I've been trying to fool myself into thinking that Bertrand was just having some really big myoclonus. Nope. It's clear the drop attacks (atonic seizures) are back.

The last time we saw Bertrand have a drop seizure was in May 2010.  ACTH treatment, while it almost killed him, bought us 2 years of drop freedom.  Now, we're going back in the ring to fight them.

Photos from Dance Performance

More backstage photos from Bertrand's 5/13/2012 dance performance.

Is your child undiagnosed?

8 month-old baby Bertrand.
Extreme cuteness may also be a symptom.

Since the identification of Bertrand's NGLY1 mutations, researchers are hoping to find/test previously undiagnosed children for the same condition.

A potential N-glycanase enzyme treatment has been identified.

I need help finding undiagnosed kids fitting this profile. Matching kids may be eligible to receive a test for this newly discovered genetic (NGLY1) disorder.

The salient features are:

• Developmental delays
• Involuntary movements starting in infancy
• Liver dysfunction detected in infancy- elevated transminases and AFP, all normalized at this time
• Myoclonic seizures starting in infancy
• Lack of tears

The presentation of kids with NGLY1 mutations may vary with severity.  Both Bertrand's mutations are located toward the end of the gene, so he may actually be one of the less affected.

The undiagnosed children may have been extensively tested for congenital disorders of glycosylation and lysosomal storage disorders, returning normal results.

Thanks for any help you can provide!