Liver Electromicroscopy Results = HOPE!

An example of a liver viewed through electromicroscopy.

Brace yourself. According to Dr. Theodore J. Pysher, Division Chief of Pediatric Pathology, electromicroscopy of Bertrand's liver cells are...

NORMAL

Yes, normal! Bertrand has fibrosis (scaring) but the cells in his liver show no sign of a mitochondrial condition, a storage disorder or inclusions such as those found in Lafora and Unverricht Lundborg Disease.

When Bertrand's new gastroenterologist (who I LOVE) gave me this news I wasn't sure whether to laugh or cry--so I did both. Then of him and Bertrand's geneticist I asked the following question: "where do we go from here?"

1. Ursodiol - Bertrand was started on this drug today to prevent further liver damage.
2. Infection - Fibrosis and subsequent elevated liver enzymes may have been caused by some sort of early infection. We will be looking for evidence and treatment.
3. Alpha-fetoprotein (AFP) - Once in the 1000's, Bertrand's AFP levels have steadily decreased to the brink of normal (34). This could support the infection hypothesis.
4. Prolonged QT - Even though this heart condition is not good, it is a good clue. Combined with epilepsy, prolonged QT implies a channelopathy.
5. Channelopathy - A disease caused by disturbed function of ion channel subunits or the proteins that regulate them. May be either congenital (resulting from a mutation in the encoding genes) or acquired (resulting from autoimmune attack on an ion channel).
6. Valproic Acid - Also known as depakote, this drug is used successfully with a range of channelopathies. Unfortunately, it is hard on the liver.
7. Carnitine - This compound is used in the body for metabolism. By supplementing with carnitine, depakote's liver toxicity may be minimized.
8. Duke/UNC/NIH - Additional institutions following Bertrand's case and care which we will contact to see if there is additional input or interest to do enzyme analysis.

Bertand is going to die (again)

With all the progress we've made in the past year in treating Bertrand's symptoms, in making him a happier child, I think it's been easy to lose sight of the fact that his condition is still fatal.

We were told back in April of 2009 that whatever he has would take his life.

They told us that his organs would slowly accumulate damage from the unprocessed cellular waste. They couldn't say which ones would fail first, but the nervous system and the liver were the likeliest candidates.

But, back in April of 2009, Bertrand's primary symptoms were developmental delays.

He seemed stout and healthy--not a child ready to perish any time soon.

It wasn't until December of 2009 that we found hard evidence that his condition would eventually kill him--an ongoing loss of white matter in the brain consistent with the predicted inborn error of cellular metabolism.

Now we've found more evidence: his liver is also accumulating damage; it already has fibrosis and it will eventually go into cirrhosis and fail.

So, Bertrand is going to die, again.

Strangely, getting a second death sentence feels as awful as the first.

With just white matter loss, we could delude ourselves with sci-fi medicine--stem cells, genomic sequencing, gene therapy; we could hope so strong that we believed that we'd be able to somehow, someday stop and reverse the brain damage.

With the liver failure, we have a second impossible feat on our plate, which suddenly makes the original one feel all the more impossible.

And, instead of waiting for his brain to fail, it's now a race between brain and liver.

Based on what we've just learned in cardiology, it may even become a three-way race between brain, liver and heart.

The bottom line is that Bertrand's life expectancy, short as it already was, is now even shorter.

Yet, once the shock of this diagnosis wears off, the way forward remains the same: focus on what we can do, enjoy and love Bertrand as much we possibly can, and keep him as happy as he can be.

ACTH Course*

June 18, 2010 - Bertrand is currently in the hospital indirectly due to ACTH. He picked up RSV because his immune system was compromised due to the ACTH. Then because of the swelling (also due to ACTH but also due to the decreased GI motility from the ketogenic diet) it turned into pneumonia. Unfortunately all the symptoms were masked because of ACTH -- he can't really run fevers or produce a lot of mucus on ACTH. He may be discharged today with oxygen.

Even through all that, I love ACTH. He can now track me, is back to smiling and is working on "hi" and "bye bye" and most importantly "mama". :) Maybe he could've done that all with SoluMedrol too. Who knows?

Everyone has stressed the importance of taking the full time with the ACTH (or any steroid) course and taper, so we stuck with it in spite of high blood pressure (150/80 for a 2 year-old) and severe mood issues (I just started an anti-depressant because of this). As a 2 year-old, 35 lb., 36 in., male, this was his course:

May 01 - 0.56mL ACTHar gel twice a day (45U total)
**Continue for approx. 3 weeks.**
May 17 - EEG
May 24 - 0.56mL ACTHar gel once a day (23U total)
**Continue for approx. 2 weeks.**
June 07 - EEG
June 07 - 0.27mL ACTHar gel once a day (12U total)
**Continue for approx. 1 week.**
June 14 - 0.27mL ACTHar gel every other day
**Continue for approx. 1 week.**
June 21 or 23 - ? mg Prednisolone twice a day
**Continue for approx. 3 weeks.**
July 12 - EEG

--------------------------------------------
*October 6, 2011 - I just found this incomplete, un-published post. I'm going to post it, without edits, for posterity's sake. Bertrand's July 12, 2010 EEG was normal. By January 2011, his EEG was severely abnormal again.

Focusing on the POSITIVE: Bertrand's EEG

September 2009

Keppra only.

April 2010

6 months Ketogenic diet (4:1) and keppra.

May 2010

2 weeks ACTH (and ketogenic diet).

June 2010

5 weeks ACTH (and ketogenic diet).

Note: The preceding EEG images were taken during drowsy periods. And, the ketogenic diet is nullified by ACTH since the resulting steroids increase glucose.

Jinxed It

This morning Bertrand woke up with more congestion, a fever and a confusing new tick--he kept punching himself in the face. Turns out that was his sign for "OW! I have my very first ear infection!" Then along with amoxicillin, he got a 12-lead EKG (pictured above) and his second sedated echocardiogram (the first one was at Duke University when he was 16 months-old). Apparently, a resting heart rate between 160 and 180 is not normal.

Needless to say, we're spending ANOTHER night in luxurious suite 3031.

We'll hear from the cardiologist on the echo and EKG tomorrow, and hopefully we'll finally get word back from pathology on Bertrand's liver biopsy. Three oxygen tanks were delivered to our house this evening in preparation for Bertrand's homecoming. And prescriptions have been written and received in preparation of getting filled. However, I am not going to jinx things again--no more predictions from me! Bertrand will get home as soon as he is well enough. :)

Fingers Crossed!

If he keeps improving (and biopsy results don't throw things for a loop) there is a chance that Bertrand may be discharged late tomorrow! Knock on wood! And keep sending the belly-shrinking, better-breathing thoughts his way! :)

Quick update

Bertrand's grandma is spending the night in the hospital with Bertrand, giving Cristina a well-timed battery recharge. Cristina is already sound asleep in bed.

Here's short update from today:

1. Bertrand's liver biopsy appears to have gone well: no sign yet of internal bleeding or infection.
   
2. The ACTH wean began as planned.
   
3. We'll hear back on the liver biopsy in about 48 hours.
4. Bertrand did a diabetes test, and he's diabetes-free.
   
5. His edema (fluid retention) remains stable: he's neither gaining nor losing fluid. At the moment, he has a taught 71cm belly and a baseball-sized scrotum.
6. X-rays were finally able to show that he has pneumonia.
7. Bertrand is on diuretics. Urine production is up, but belly size is unaffected.
8. Bertrand's albumin is low, which may be the culprit behind the edema.
   

Hospitalization update

Bertrand got his morning off to a bang with a large bowel movement. Unfortunately, the circumference of his distended belly grew to 71cm. Since his other extremities are now equally swollen, our concern is that he has generalized edema.

I asked for a physician's opinion on the possibility of heart failure. Heart failure is one cause of generalized edema, and heart failure is a side effect of ACTH. I felt that with his elevated heart rate, this had to be ruled out. After an examination, the cardiologist here thought his swelling was related to his pulmonary infection rather than heart failure. A veteran medical tech here also concurred that his symptoms are more aligned with pneumonia than a heart condition.

We pulled about 650 mL of fluid and gas out of his nose through a gastric suction tube. The upside of this is that Bertrand regained enough motor control of his right hand to scratch at the tube. (He hasn't displayed that much motor control since 8 months old!)

As the day went on, Bertrand seemed to regain more strength, and he can now stay just inside the safe blood-oxygen range without external oxygen support! (Unfortunately, he's doing this by breathing and pumping blood twice as fast.) His respiration is still "chunky" but it's clearly less so than yesterday.

But, he won't be going home until we track down the source of the fluid retention. Even though the staff told me they'd seen children twice as swollen as Bertrand, I couldn't help but wince when I touched his taught skin. It just looks painful.

Ironically, if I could choose to have the Bertrand I have today or the Bertrand I had two weeks ago, I might still choose the one I have today. Surface maladies aside, Bertrand has been more emotionally and socially connected these past few days than ever before. When I smile and laugh, he smiles and laughs. When I rub his head for comfort, it soothes him. When I walk across the room, he tracks me.

We're hoping that once we get Bertrand all fixed, that we'll get to keep all of these sudden and unexpected developmental advances.

Hospitalization FAQs

At last Monday's EEG Bertrand looked bloated and pained.

What is happening? Tumor? Biopsy? When did all this come about? Why did you decide to stop the Ketogenic Diet? Was there some big event that I'm missing? How did he even end up in the hospital again? Is your dad in Utah? Are these enough questions?

We've been getting a lot of questions in regard to Bertrand's hospitalization. This is my attempt to recap the events that led him here and provide answers to the most frequently asked questions. Warning: I am extremely tired and may not quite finish this blog post.

Bertrand was moaning, sleeping or moaning AND sleeping the past 2-3 weeks. And he was "gaining weight" in spite of having his calories drastically cut twice.

At the neuro appt after his EEG on Monday, the neurologist was shocked because his EEG looked SOOO much better but she agreed that Bertrand was acting "off" and not consistent with roid rage. Bertrand had started spitting up a bit so she thought he could have a gastric ulcer, which is a side effect of ACTH. She told us to see the pediatrician about that.

On Wednesday we went to see the pediatrician. Just looking at him his pediatrician thought Bertrand's breathing looked fast and labored. Upon a closer check, breathing and heart rate were through the roof. She checked his O2 saturation and it was bouncing around 85% and would dip even lower when he fell asleep. Hypoxia: not good. She said she was going to admit him.

She put him on O2 right away and his color and mood improved dramatically. She thought he was just chubby and may need his calories cut but there was a small chance he could be sick and have pneumonia. She ordered a virus culture even though he didn't seem sick (no fever and barely and mucous). It was a good thing she did because turned out he had RSV that was being masked by the effect of ACTH. She wanted x-rays to check for pneumonia, and the x-rays could barely show lungs there was such a GI back up.

Since then, we've been trying to figure out what is wrong with Bertrand's GI. Why is it backed up? Why are things not moving? Massive amounts of miralax, senna, and two edemas have done virtually nothing for Bertrand's belly--well, besides cause bowel movements that would make an elephant proud. Bertrand's belly keeps getting bigger. This is a large reason why Bertrand was taken off the ketogenic diet--the diet slows down the GI tract and causes constipation. Doctors may be starting Bertrand on antibiotics tomorrow to help with "motility" because his GI system isn't moving things along fast enough, if at all.

Bertrand is getting a liver biopsy on Monday, as best as I can tell, because his liver enzymes have always been super high and he wasn't going to get discharged anyway. GI is insisting on the biopsy and neurology had mentioned they wanted to check for Lafora Disease and ULD, and ophthalmology mentioned they wanted to photograph his optic nerve to check for degeneration (while Bertrand is sedated). SO several birds are going to get killed with that stone.

To check for ascites and prepare for the biopsy, Bertrand got an ultrasound today and on the ultrasound the radiologist found a "questionable spot". We're waiting to see if/when he's getting an abdominal MRI. (My dad, who is leaving tomorrow, didn't think it looked like a tumor.)

Bottom line, Bertrand will be inpatient until at least Tuesday. More to come when I can think straight...

Thank You!

Bertrand, Matthew and I say, "Thank you!"

We wish we could thank you all individually.

We wish we could say how heartening and touching all of your wishes, prayers, and kind words are.

And we wish we could express how much it all means to us.

Unfortunately, things are still a bit hectic while the excellent medical team over at Primary Children's Medical Center attempts to solve the medical puzzle that is Bertrand Thomas Might. It looks like B will be here for a few more days (more on that later). But for now, we're just grateful that we have the best family and friends anyone could have. So, to all of you who have commented on our blog, tweeted, facebook messaged, texted, emailed, phoned, visited, cooked or sent positive thoughts our way: thanks again and we love you!!!

Hospitalized

Tonight, Bertrand is staying in room 3031 of Primary Children's Medical Center (PCMC). He is in isolation with a confirmed case of RSV and possible pneumonia. However, Bertrand's chest x-rays taken today were unable to show pneumonia, or his lungs for that matter, as his entire abdominal cavity was crammed with poop.

This is a troubling dilemma. Don't get me wrong, I have all fingers and toes crossed that this remains the extent of Bertrand's ills! But, Bertrand's has at least one bowel movement everyday. And, how is such a level of constipation even possible on the amount of miralax that kid is on?! At least the poop may begin to explain his massive belly and weight gain (in spite of dropping his calories). It may also help to explain Bertrand's persistent dehydration.

Bertrand drinks between 2 and 3 liters of fluid per day--well above the 1250mL recommended amount for a child his size and age--yet according to his labs Bertrand consistently appears dehydrated. In human physiology, extracellular fluids are distributed between the interstitial compartment (i.e. tissue) and intravascular compartment (i.e. plasma) in an approximately 75%-25% ratio. Third spacing is the physiological concept that body fluids may collect in a "third" body compartment that isn't normally perfused with fluids. Could it be possible that Bertrand's body is having to divert fluids from his blood to other parts such as, well, his poop storage?

I dunno. It's late and you can tell I am exhausted when I start coming up with brilliant medical terms like "poop storage". And on that note, we'll just have to wait and see if Bertrand's milk and molasses enema (what weirdo decided that would be a perfect combination to put up someone's you-know-what?!) this evening did it's job and the x-rays tomorrow show lungs. Hopefully clear ones.

PS - Bertrand is officially no longer on the ketogenic diet.

EEG Improvement on ACTH

Bertrand's neurologist was shocked by the improvement shown on Bertrand's EEG today. It took until midway through the EEG to see the first spike. He had no clinical seizures during the EEG.

This was all to my surprise because Bertrand has been so miserable the past month (and in particular the past two weeks), it has been hard for us to see any improvement at all. If anything, we thought he had gotten worse because he is no longer sitting unsupported or playing with toys. He rarely smiles and no longer laughs. He just sleeps or moans or does both simultaneously.

I walked into the appointment ready to give up on ACTH and steroids, but with the news about the EEG improvement I resolved to give them a bit longer: 3.5 months. Yes, Bertrand will be on ACTH for 2 more weeks and then on prednisilone (a steroid) for 3 months.

Here are some other highlights:

1. ACTH and steroid titer schedule set (ACTH 1/2 dose daily for 1 week, then ACTH 1/2 dose every other day for 1 week, then Prednisilone 1.0mL twice a day).
2. Zantac 1.5mL twice a day in addition to current Prevacid 15mg.
3. See pediatrician ASAP to check for gastric ulcer. (Appointment Wednesday.)
4. Expect call from dietitian about weaning off the ketogenic diet.
5. Bertrand must lose about 2kg.
6. Schedule EEG and neurology in August to discuss additional medication, etc.

The Chickens Come Home to Roost

The girls at home.

Yesterday, six new additions joined our family: two Gold Sex-Links, one Plymouth Rock, one Ameraucana, one Delaware and one Australorp. Or, in a simpler word, chickens. :) There is almost no sweeter sound than coming downstairs in the morning to their lovely chirps, and even now they keep peering and chirping over at me curious of the toy (laptop) I am playing with. To date, the girls (they are guaranteed female) have amused and charmed us all.

Now many of you sensible folk out there are probably shaking your heads and wondering what a person battling depression and caring for a special needs child is doing by adding yet another task/burden/responsibility/chore/etc. to her plate? That's a good question and one I've been trying to answer myself. :)

So far, all I can say that the undertaking is a life affirming one. Through my experiences with Bertrand I can draw many parallels to the act of bringing these beings into my life, knowing that their existence will be short, the decisions will be hard, the end may be painful, and through it all choosing to love them any way. It's the only way I know how to live.

Who knows what the future will bring for any of us? Bertrand, Hannah & Carrie, the chicks, me? I may have an inkling, but living in fear of suffering in the future would only keep me from living and loving today. And, as much as I know it will hurt, it is true: it is better to have loved and lost than never to have loved at all.

You know these babies will be loved.

A chick being handled at the farm.

Mr. Wang meets one of the girls before they can start beating him up.

This Ameraucana is extremely docile and sweet. She is our oldest chick.

Here is one of our (technically our neighbor Cathy's) youngest chicks, a Australorp.

Here are the chicks at the farm where we picked them out.

At the farm, Bertrand was not amused by the hot weather and the interruption in his routine, but his Abuelito was just happy to be with Bertrand.

Unlike Bertrand, Aunt Aury was VERY happy with the situation!