Home At Last!

Keeping things interesting - Take 2

Remember that post yesterday where I said, "Matthew and I are increasingly optimistic that he could be discharged tomorrow"?

HA. HA. HA.

Bertrand's discomfort and heart rate skyrocketed this morning.  His heart rate broached the 180s and stayed in the 170s for a large portion of the day.  He was transferred to Peds and then the NICU team got involved.

After lots of oxycodone, epinephrine breathing treatment, intravenous methylprednisilone (a.k.a. SoluMedrol), intravenous morphine, intravenous antibiotic, 3 boluses of fluid on top of his regular maintenance fluids, (and more steroids on the way)... Bertrand's heart rate is down to the 140s and he is much more himself.

We still don't know what went/is wrong.  Many of his labs, including the blood culture looking for signs of infection, are still pending.  However, we do know that his white blood cell count is high but his cortisol is low, which isn't helping any if he is trying to fight an infection (hence the additional steroids on the way).

So, yes, Bertrand is still keeping things interesting.  ;)  Fortunately, he is in good hands and we expect he'll be feeling better soon eventually.

PS - Happy birthday, Titi Saby! We wish we could be celebrating with you with all our hearts.  We love you!

Adrenal Insufficiency Take 2?

Last Sunday, Bertrand was low on energy after therapy.  Then he was increasingly sleepy on Monday. By Tuesday, he was not eating and unresponsive.  Much like during his hospitalization, there were no other symptoms--no fever, no mucous, no cough.

Seeing Bertrand like this was terrifying.  Searching "adrenal crisis" brought up the symptoms of sleepiness, lack of appetite, and chapped lips.  And coincidentally, Bertrand had unusually dry skin and severely chapped lips.

We considered taking him to the ER, but decided to try a stress dose of hydrocortisone first.  Within the hour, Bertrand was completely back to his old self for the first time in weeks!

It's fantastic that we were able to identify and address the root of his condition.  But, it's scary how quickly he went down hill.  It's also disturbing proof that his adrenal insufficiency is very real.

Bertrand will be on the hydrocortisone for 2 more days, and he sees an endocrinologist next month.  I hope he doesn't need the steroid stress dose again.  We're keeping a close eye on him.

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.

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.

State of the Pookie Report: May 2010

I've been feeling ground to a pulp (this may have to do with being completely black and blue from a few days ago when my knee gave out at the top of a flight of concrete steps causing me to tumble all the way down them--ouch), but I owe you all a long overdue State of the Pookie Report. Without further ado, here it is.

May 17th

Bertrand's EEG was "much improved". As you can see from the photo below, there were still plenty of (smaller) spikes but most of the underlying wave pattern disappeared. This is great news! However, most kids on ACTH have normalized EEGs after two weeks of treatment, so Bertrand's neurologist believes that a normal EEG may not be in Bertrand's future. We'll see.

May 24th

Bertrand's ACTH wean began. He went from two shots a day of 45 units (90 units total), to just one 45 unit shot of the ACTHar gel in the mornings. He literally got back in the saddle, as his 'roid rage was sufficiently lowered to attend hippotherapy for the first time since starting ACTH. It was his best session ever--with him complaining whenever the horse would stop. :)

May 25th

Bertrand's ophthalmology appointment was attended by his representative/therapist from Utah Schools for the Deaf and Blind. Bertrand has cortical visual impairment (CVI) and is legally blind. This was documented for the school district so it can be addressed at his IEP meeting on July 7th. Later that day, Bertrand picked up his totally rad AFOs, and he now needs larger shoes to fit over them. Time for new shoe shopping! Yay! (I LOVE shopping for baby shoes. They're so darn cute!)

A portrait of Bertrand taken by Jessie Lynne.

May 26th

Bertrand had a great occupational therapy session. He has become much more willing to bear weight on his arms and let things touch his hands. We're finally being able to fully enjoy many of his touch-and-feel books. This is a huge, new plus. Unfortunately, we're seeing myoclonus and tonic seizures in his sleep. Hopefully, these will go away with continued ACTH, as we have not seen a seizure during his waking hours since... MAY 5TH! In equally awesome news, Bertrand's 'roid rage is toning down and he is finally starting to eat less. Whew!

June 2nd

Even though his immune system will still be technically suppressed, Bertrand will be re-starting his preschool. He will be attending Mondays AND Wednesdays from 8-11 to make up for the month he missed in May. This will be a good test for his tolerance of increased school time and of the changes/progress he has made since ACTH treatment.

Another portrait of Bertrand taken by Jessie Lynne.

June 5th

Matthew will leave on a marathon of conferences and family activities through the end of June. In an effort to save my sanity, Bertrand's Abuelito (my dad) and his Auntie Aury (my sister) are coming to visit and arriving the day Matthew leaves. Abuelito will be staying for a week but Auntie A will be staying through July 5th! I am so excited! While she's here, Aury will be attending the University of Utah's School of Computing Entertainment Arts and Engineering Summer Program! I wish I could attend the program--it sounds awesome! :)

June 7th

Bertrand's follow-up EEG and neurology appointment should be interesting. At this point he'll be two weeks into the ACTH wean. Bertrand's Abuelito, who is a neurologist, will be attending the appointments with us. (Hey, Daddy? FYI, you're attending the EEG and neurology appointment with us. Love you! Thanks!) At the neurology follow-up we'll be discussing the ACTH wean, the prednisone/prednisilone titer and the possible addition of Zonegran.

"The Boy Who Discovered His Lungs"

There once was a boy named Bertrand
With no fine motor or tears from his tear gland
Then along came steroids
And peace was destroyed
Tears and yells came hand in hand

Yes people, I am finally losing my mind. I want to believe (and so I will) that there are finally some positive changes coming from Bertrand's ACTH treatment. We haven't seen a myoclonic, tonic, or atonic seizure in 4 days--this tops his 3 day "seizure free" record on the ketogenic diet. And as for the seizures we don't count, his eye myoclonus and absence seizures seem greatly reduced. That said, apparently Tarzan is Bertrand's real father. This is the only explanation I can come up with for the unnatural sounds and volume coming out of my once soft-spoken little boy. Oh, and a wolverine is apparently Bertrand's real mother, but more on that some other day. :)

The Blood Pressure Saga Continues...

Bertrand on a walk with his great-aunt Shirley today!

Bertrand's pediatrician appointment was interesting yesterday. His blood pressure kept reading as very high in the office. To give you an idea, Bertrand's blood pressure was 152/82 and the high range for his age, height and weight is 105/65-75. Yeeeaaah.

This blood pressure was taken while he was sleeping, but having a lot of jerky movements, which can distort the reading. So we were given two days to get sleeping blood pressures for Bertrand before putting him on blood pressure medication and/or reducing the ACTH.

Guess what we got last night?

113/87! We were pretty excited by how low this was! This was taken on his ankle, and any leg blood pressure measurement is about 10 points higher than that from the inner elbow. Correcting for this would put the values at 103/77. Not bad, huh? :)

All in all, Bertrand is still very irritable and hungry, but his great-aunt Shirley and aunt Jess helped to distract him by going on walks... in the snow. Yes, it was snowing in May! (But fortunately it didn't accumulate.)

Jess and Shirley are driving across the country so Jess can start her nursing program at Johns Hopkins! We are all so proud of her! She unpacked her stethoscope just to take Bertrand's blood pressure. :) And, Shirley gave Bertrand multiple walks and single handedly finished curtains for our bedroom while B was napping! The energy of these two ladies is amazing! They need to drive through Utah more often. :)

ACTH Day Four

This is Bertrand's weary Mama reporting from the front lines.

Bertrand is doing better tonight! He had his first NORMAL BLOOD PRESSURE and PULSE! YAY! We thought he was going to have to go on blood pressure medication starting tomorrow, but he may have beat that. We increased his water and decreased his salt. Also, while he was a little monster today, I would say he didn't seem possessed, which is progress, right? :)

What else? His ketones are down to moderate. We saw tears again today--I always consider tears a good sign. :) And he's had only one or two seizures today, which isn't good but isn't bad. He's still acting alternately fussy and exhausted, but hey, his body is working hard. We'll see what his pediatrician says about all these things tomorrow.

Overall, I am not as frantically worried today as I was the past few days. (Mind you, still very worried, just not as much.) I think we'll be able to stay the course for the next 2 to 3 weeks. Also, looking at kids on ACTH with non-infantile spasms, the treatment can take weeks to see results, so that I was happy to hear that too. ACTH still has time to work on Bertrand.

Look at what I found today! Bertrand's baby announcement!

Look at that adorable baby chub!

24 hours of ACTH and a bit discouraged

The happiest day in my life. I didn't know then that it would lead to some of the saddest days in my life.

At 3:30PM yesterday, Bertrand began a course of ACTH gel injections. He has received three injections so far. He has had lot of seizures today--more than all of last week's seizures combined. It is a bit discouraging. We know that because he is still producing large ketones and his glucose still reads as low (consistent with a 4:1 ketogenic diet), perhaps we are not seeing the full effect of the 90 units of daily ACTHar gel. I can only hope that over the next few weeks (preferably days) we'll see the improvements that ACTH is famous for and not so much of the side effects that it is infamous for. Fingers crossed.

ACTH here we come!

If our insurance approves it, Bertrand will be starting ACTH injections this week! This is exciting because if the injections work, they will work quickly. However, there is no telling how long the results would last (3-6 months? if at all?) or if he'll need oral steroids as a follow up. And, there are side effects. Bertrand will have irritability ('roid rage), gastrointestinal upset, cardiac/blood pressure concerns, elevated glucose, a suppressed immune system, and that's just in the short term. In the long term, there are bone density concerns as well. For the 4 week course of ACTH, Bertrand needs his blood pressure taken twice a day and he cannot go to daycare, preschool or be exposed to crowds. (Sadly, this includes his once a week "preschool" time at The Carmen B. Pingree Center.) The shots will, at least initially, be administered by a home nurse twice a day, and then Matthew and I will be trained. But if the ACTH works, all the effort will be worth it! I don't even want to think too much about it or get my hopes too high in case it doesn't work, but there is a small chance I may get to meet my son for the first time! What mother couldn't get excited about that?

Other major topics touched upon at the neurology appointment today included the results of Bertrand's SCN1A testing: negative. This was a genetic test for Dravet's syndrome--a devastating genetic epilepsy disorder. Unfortunately, I couldn't finish taking a sigh of relief before the neurologist brought up Unverricht-Lundborg Disease and Lafora Disease, two new potential diagnoses for Bertrand. ULD is chronic, debilitating and can cause death while Lafora is absolutely fatal. Both start as myoclonic epilepsy and both would explain Bertrand's elevated liver enzymes--and that's why a liver biopsy is back on the table. If they find inclusions in his liver, *bing bing bing* they may have a winner. While a diagnosis would help family planning, I really hope it is not either one. We'll revisit Lafora and ULD after ACTH.

A grab bag of other issues were discussed: the new rapid DNA sequencing facility (more on that later), Bertrand's last EEG (it was improved! there were periods with no spikes!), IVIG (another potential treatment which the neuro doesn't think would work in Bertrand's case), leukodystrophy (very heartening: his neuro thinks his epilepsy may be causing the white matter damage, not the other way around!), stem cells (she didn't laugh at us, which is a plus, but said there are several less expensive, insurance-covered options we can try first), medication (she wants to possibly add zonegran after the ACTH), orthotics (Bertrand needs braces/AFOs because his ankles are starting to lose flexibility), and the DSPD waiting list rejection (it is preposterous and she is writing a letter of diagnosis. The diagnosis? Doose Syndrome).

For now, Bertrand's next EEG has been scheduled for May 17th and we're waiting to hear back from the nurse within the next 2-3 days. In the interim, I will email a few parties "in the know" in regard to ACTH and the ketogenic diet. I am not fully comfortable with the information available to our group here about that. Fingers crossed, everyone!

Today's EEG - Not so good?

Some days I resent my MD from wikipedia. Today is one of them. I wish I were one of those parents who could blithely go along with doctors and accept what they're told... Not really. That would be a heck of a lot easier than the hell I am putting myself through today, but someone needs to be awake at the switch for Bertrand's sake. Apparently that person is me.

Okay, enough preamble. What did Dr. Mom get from Bertrand's EEG today?

First of all, and this should be obvious, sleep deprivation for a child with epilepsy is a BAD idea. This is the first EEG Bertrand has been sleep deprived for and it sucked. I guess for most kids it helps them fall asleep and not move as much, but let's be honest with ourselves here: Bertrand has a movement disorder. His last sleep study confirmed that he moves almost as much asleep as he does awake--which is saying something. Furthermore, rather than seeing the new, improved Bertrand we got the old, seize-y, exhausted Bertrand. His new EEG looked like this:




Could this be slightly better than his older one? You be the judge.

Secondly, this EEG confirmed that Bertrand has photosensitive epilepsy, which we suspected. During the intermittent photic stimulation Bertrand's EEG looked like this:



Now, what had me really upset about this EEG wasn't the brain portion as much as Bertrand's electrocardiography (ECG or EKG) line, which is an interpretation of the electrical activity of the heart, during this EEG. Whenever Bertrand moved or sighed really big the EKG would hitch a little (which is normal) but during this period Bertrand was completely STILL. Here is the series of images of that over a period greater than a minute--look at the red EKG line on the bottom.







At first I thought that there was something wrong with the contact on B's chest, but as you saw, the EKG returned to normal on it's own. Since there was no video recording of this EEG, the technicians were under the impression that Bertrand had simply been moving or fussy during this period--which wasn't the case! Bertrand hadn't moved at all! So now I am faced with the decision of whether I should bring this up to B's neurologist. I happen to know that Bertrand's echocardiogram done at Duke was perfect. Will his neurologist think I am crazy? a pest? Or even worse, could this serve as a red herring, causing her to take even longer to adjust Bertrand's treatment? I really don't know if I should say anything. I'll have to consult with my favorite neurologist first.

Based on this EEG, I think that Bertrand may still be on track for trying ACTH treatment for his seizures (which would require coming off the ketogenic diet first). Furthermore, whether or not there were any changes in the EEG doesn't matter because, as my daddy always says, "you must treat the patient, not the EEG." Bertrand HAS improved over the last few months: he is more stable, he is smiling, he is laughing, he is more verbal, and overall his quality of life has improved significantly. And, that's what matters.

UPDATE: Whew! Spoke with my Dad in regard to Bertrand's EEG. The EEG is still highly abnormal (duh) but he thinks the one bad EKG episode may have been due to electrical interference from another electrode, since Bertrand was having a particularly bad subclinical seizure. Part of what suggests this is that the red line went from resembling an EKG line to resembling an EEG line, the other part is that Bertrand is still alive. Lovely.

Extracurricular Treatment for Epilepsy?

Now that Bertrand's arm is on the mend, he has been making some great strides. We believe that this is in large part due to his current treatments, chiefly:

• Ketogenic Diet
• Keppra
• Vitamin B6
• Branched Chain Amino Acids

However, while we've seen a great reduction in the number of seizures, Bertrand is not yet seizure free. While this may still be possible on our current course, it is not likely. Therefore, we're looking ahead for potential cutting-edge treatments. Here are a few:

• Hormones/Steroids: This group includes intravenous ACTH, Solu-medrol injections, and oral prednisone. As mentioned in prior posts, steroids in epilepsy work primarily by reducing inflammation in the brain. The respite provided by the steroids gives the brain an opportunity to heal. Unfortunately, in many cases, this effect is only temporary, and other measures such as oral steroids, AEDs or the ketogenic diet are needed as a follow-up to maintain seizure control.
  
• Intra-Venous Immune Globulin (IVIG): Gamma globulin is a class of antibodies that we all produce. Our body normally uses gamma globulin to bind viruses, bacteria, fungi as well as unusual proteins, toxins, etc. Once these irritants have been bound by the gamma globulin they are cleaned up and eliminated by other cells of the immune system. If there is a virus or an autoimmune antibody that attacks one’s own tissues, the IVIG can neutralize it if there are no other solutions present. IVIG also reduces immune system reactivity and inflammation present in the brain.
• Stem Cells: Even minute brain injury barely undetectable on an MRI can cause of epilepsy. Stem cells have a way of knowing how to go to areas of insult/injury to repair damage. In Bertrand's case, autologous (his own) cord blood stem cells could by transfused and given a shot at repairing his injured/lost white matter.
  
• Hyperbaric Oxygen Therapy (HBOT): In a study done in 2005 at the University of Pittsburgh it was determined that hyperbaric therapy causes the body to make 8 times as many stem cells as normal (this may explain why several brain related traumas respond to it). And, the oxidative stress of hyperbaric oxygen therapy reportedly improves tissue growth and vascularity.

Neurology Update

According to Bertrand's neurologist, "I would wait and reschedule it [the EEG] for 4 weeks out from when you increased the ketogenic diet to 4:1 ratio which I think was less than 2 weeks ago. I don't expect it to take effect that quickly. Also, we discussed him at an attending conference. The general feeling was to give the ketogenic diet a little more time and then consider ACTH. Problem with ACTH is that it is great short term but the myoclonus tends to recur less than 6 months from stopping so he may need to go on prednisone or dexamethasone for prolonged time. I am worried about his weight and the fracture, so want to give this time to heal before starting."

Letter to Bertrand's Neurologist

Hi Neurologist,

When I spoke with Keto Nurse about Bertrand's labs last Thursday, she said she wasn't comfortable with Bertrand's liver values to raise his ratio to 4:1. However, Bertrand has had significantly higher liver values in the past--before the diet. And, he had low glucose because the lab took almost three hours to get someone from IV team to draw Bertrand's blood, so he was missing his afternoon snack. I don't like the sensation of treading water with Bertrand's treatment if there is *any* way in which we could be helping him. If we're still going with the EEG on March 26th, I would like your support to try the 4:1 diet beforehand. The urine strips we use to test Bertrand's ketones also test glucose, so I will closely monitor both.

That said, if we've gone as far as you think we can go with the diet (having to remain at a 3.5:1 ratio), we would like to try a steroid treatment. You know how nutty I am about researching all things with Bertrand. :) I've spoken with 5 different moms whose kids used steroids to treat MAE. The most popular arrangement seems to be a 5 day course of solu-medrol IV, followed with a prednisolone titer at home. (They've said that the body has to turn the prednisone into prednisolone by function of the liver, so prednisolone would work better for Bertrand.) After that, three of the kids went on the ketogenic diet for maintenance and to avoid going back on AEDs. One of the kids who did the treatment last year and didn't do keto afterward just had to go back in this week for a second round of solu-medrol.

In regard to steroids, speaking with both Bertrand's Pediatrician and Orthopaedist, Bertrand's bones don't seem to be a long-term concern. However, there is some additional blood work his Pediatrician recommended as a sanity check.

We understand that treatment has to balance many aspects of an individual's well-being. In Bertrand's case, we feel his cognitive development is crucial to his well-being, and as such, very much worth pursuing.

Thank you :)
Cristina & Matthew Might

A Brief Update

• Bertrand's pediatrician believes that there is a significant chance that his arm fracture may not be a result of his condition--just a normal toddler break. As such, steroids can be left on the table as a possible epilepsy treatment.
• Bertrand's keto team is uncomfortable upping his ratio from 3.5:1 to 4:1 due to his recent lab results. Glucose in particular was a concern. B's neurologist will get back to us on how to proceed re: diet, EEG and steroids.
• Bertrand's medical team will be having a pow wow in the near future with a focus on improving his physical and cognitive development and what trade offs need to be made (bone v. liver v. brain etc.). This would include his keto team, neurologist, pediatrician, geneticist, hepatologist, epileptologist and orthopaedist.
• Bertrand is getting to be more like his mother every day. At physical therapy today it was discovered that he has her same limb length discrepancy (left leg is longer). His stander has been adjusted to compensate and in the future he will need a lift in his right shoe.