Cool, calm, and collected

Bertrand had a follow-up appointment for his CCTV EEG on March 9th. It has taken me a week to wrap my head around what transpired. The epileptologist, who I'd had such high hopes for, basically hadn't looked at the EEG, despite having 2 weeks to review it.

From what she glanced at before we walked in, Bertrand's EEG during sleep is significantly abnormal. He still has some myoclonus while awake too. She couldn't locate the episode (one our so-called looping seizures) that the nurses and doctor-on-call medicated him for. She was upset with the staff for giving Bertrand rescue medication because it prevented repeat seizures that night.

She actually asked me to act out the seizures, even though she'd been shown video of them at our first appointment with her, and then said, "I'll take your word on it." (WHAT?!) She proceeded to prescribe a high dose valium regimen--without her prescription pad, because she had lost it.

It's hard to put into words how deeply unimpressed I am with her professionalism, much less her competence.

We need an intervention.

Bertrand's medical team is not on the same page with us or even each other. Scheduling a meeting with his pediatrician to discuss our issues will be the first step.

Quality of life is our primary objective for Bertrand. I don't want to drug him for the sake of drugging him. There is a delicate balance necessary for seizure control. Too many seizures = no development. Too many drugs = no development. I got the impression that Bertrand was prescribed a treatment to get rid of me.

I want a doctor (to clarify: neurologist) who understands my son's case, his seizure types, his metabolic considerations, and his potential. I want a doctor who doesn't see my son as a waste of time. Better yet, I want a doctor who believes that my son has hope for a better life.

One that returns phone calls or emails would be nice too.

EEG/CCTV

Bertrand completed his EEG/CCTV this weekend. He was discharged early thanks to a good recording of his nightly seizure.

His seizure at 11:30pm was about 30 minutes long and rescue medication (versed) was administered by the hospital staff.

Typically, he has between 1 and 3 of these seizures per night, but thanks to the versed that was the only one that night.

Fortunately, we were able to confirm that these seizures are NOT apneic! Phew!


The discharge orders (which looked like boilerplate) say to administer diastat rectally for seizures longer than 10 minutes, but he's been having these seizures nightly for 9 months! We would be giving him diastat nightly!

Before proceeding with this course, we're waiting for confirmation from his neurologists that this is how we should proceed.

We probably won't hear back for another 1-3 weeks on the results of the full EEG.

No steps backward!

With Bertrand's medical care, I often feel that for every step forward, there is at least one (or more) steps backward. This week was a good week because there were no steps backward!

Orthopedics:

Bertrand saw the chief orthopedic doctor at Shriners hospital yesterday. We got good news:

• Bertrand's tone is a bit low but good.
• Bertrand's subluxated hip has no tightness and full range of motion, so he doesn't anticipate any kind of intervention (surgical or injection) being necessary!
• Bertrand's spine can still straighten when laying down. There is only a 30 degree curve when sitting slumped--which anyone could have if they slumped.
• Bertrand should only wear his back brace if he'd otherwise be sitting slumped for a prolonged time. Strengthening his back and abdomen muscles is the best prevention.

Ophthalmology:

Bertrand saw the young, insightful doctor again, this morning. She'd been thinking about him:

• Bertrand failed the corneal sensitivity test. THREE times.
• Bertrand continues to require a LOT of lubrication.
• Bertrand should get a pair of moisture chamber goggles for daytime use.
• Bertrand should try tranquileyes for nighttime use. (Testing this tonight!)

Neurology:

After another round of phone calls, I FINALLY got someone to schedule Bertrand's EEG. The soonest available was February 24 - 26, which avoids missing school, so I took it.

Things to think about...

Today, Bertrand had his first appointment with an epileptologist in Utah. We're waiting to hear back from scheduling for a 2 day overnight EEG. The doctor also left us with two new treatments to research and think about:

• Banzel (Rufinamide)
• High-Dose Valium Protocol

Next steps will be taken based on the EEG findings.

Timeline

At Bertrand’s neurology appointment last week, the doctor laid out the following timeline:

• Follow-up appointment in 4-6 months
• Revisit medication in 4-6 months
• Repeat EEG in 6 months
• Repeat MRI in 2-3 years

I’ll admit to feeling some frustration upon hearing this but, as I noted in an earlier post, some times it takes doctors a bit longer to get on the right page. ;)

Fortunately, the neurologist is no longer key to understanding Bertrand’s case management. She never was. Bertrand was the key.

While some extra non-invasive tests, like an EEG & MRI, would give me peace of mind and validate the vitamin deficiency theory, these test are not necessary. I can see, with my own eyes, Bertrand’s seizures disappear, and I can see him progressing developmentally.

This is just a crazy theory, but I think that if we didn’t completely miss Bertrand’s growth spurt, his head measurement may increase since being on the vitamins B12 and A. He has microcephaly (his head measures 48 cm), but that can be caused by B12 deficiency. In young B12-deficient children, the microcephaly can correct itself in a few months with supplementation. I hope this is the case with Bertrand.

Last but not least, Bertrand’s seizure medications have already been decreased (without MD buy-in) with no additional seizures. And, in another few weeks, given continued seizure freedom, we will cautiously and slowly reduce the medication further. I would love to have a doctor’s help with this, but she wants us to wait months just to discuss the drugs!?

Despite the fact that Bertrand has been on Lamictal since November (9 months) and Depakote since February (6 months), she implied that the sudden disappearance of Bertrand’s seizures, within one week of starting the vitamin-B12 in late August, was most likely due to the lamictal and depakote! If we don’t lower the drugs ourselves, Bertrand’s neurologist will claim that the drugs are to thank for the seizure control. And, she is wrong.

She is not listening to me. If she doesn’t listen to me, then how can I listen to her?

Mission Impossible? Or Mission I'm Possible?

Bertrand wasn't glad about all the measuring and attention to detail, but mom & dad sure were!

We arrived at the Cleveland Clinic on Sunday afternoon, had our first appointments on Monday, and last night was Bertrand's first night staying inpatient. (His room is M52-05 in the Pediatric Epilepsy monitoring unit.)

THE HOSPITAL

Before arriving at the Cleveland Clinic, we'd heard it described by friends as "medical Disneyland", so our expectations were set pretty high. The Clinic hasn't disappointed!

It is a MASSIVE, multi-block medical complex, interconnected by skyways (extensively peppered with flat screen TVs) with optional patient shuttles.

The main hospital building could double as a museum with its soaring architecture and world-class art exhibits. (I could dedicate a post to this aspect alone!)

The specialty gift shops--yes, plural--include a bookstore, spa shop, clothing boutique and typical gift shop. They are larger than your average grocery market.

Much to Matthew's delight, dining options include everything from gourmet caffeteria to McDonalds, Starbucks and Au Bon Pain to the award-winning restaurant, Table 45.

And, the four lodging establishments located on the medical campus run the gamut from Ronald McDonald House to the Intercontinental.

The prior amenities are just scratching the surface.

I'm surprised I haven't seen a waterslide--then again, I probably just haven't found it yet.

Obviously, the most attractive feature of the Cleveland Clinic--the one that has us & people from all over the world traveling here--is the world-class medical staff.

NEUROMETABOLIC / NEUROGENETIC SPECIALIST

Bertrand's first appointment of the day yesterday was with Dr. Sumit Parikh, and I'll be upfront by saying I came out of that appointment with a crush on him. ;) Heck, I think Matthew, Diane (Bertrand's nana) and even Bertrand himself came out of that appointment with a crush! It is unbelieveably rare to find such a combination of expertise, attentiveness and compassion.

To him, an expert in neurometabolic, genetic and mitochondrial disorders, while Bertrand appears to have a genetic disorder, he appears neither metabolic nor mitochondrial!

Given the early onset of B's condition, his liver function improvement, and relatively stable condition, if it were a metabolic condition Bertrand would be far worse--if not dead--by now.

As far as a mitochondrial condition goes, while we could consider a conclusive muscle biopsy, Bertrand lacks several key chemical and physical indicators (lactic acid, hypotonia, etc.).

PEDIATRIC EPILEPTOLOGIST

The following appointment was Bertrand's first ever with a REAL epileptologist, Dr. Deepak Lachhwani. Dr. L has experience with children seemingly similar to Bertrand!

Since he was a last minute substitution to Bertrand's medical team, he hadn't yet read Bertrand's medical file--this is a PLUS. I couldn't be happier that Bertrand's seizures will be viewed through a fresh set of eyes, untainted by potential metabolic, mitochondrial, genetic or other considerations, especially after our meeting with Dr. Parikh.

He will proceed as if intervention, pharmacological and/or surgical, is still an option. (Many of Bertrand's prior doctors discounted intervention right-off-the-bat on the assumption that nothing would work effectively in the case of an inborn error of cellular metabolism.)

After reviewing Bertrand's prior MRIs, he may order a new MRI or PET scan if indicated.

ELECTROENCEPHALOGRAPHY (EEG)

Bertrand had 3 EEGs in 2009, 6 EEGs over the course of 2010, and his first ever EEG done right in 2011. I'll admit to feeling simultaneously shocked, incredulous, awed and furious.

Bertrand isn't your typical kid with a febrile seizure or epilepsy. An EEG should do more than prove "yup, he had a seizure". (NO DUH. He has seizures.)

An EEG should provide information--usuable information--on where his seizures are originating, how/if they generalize, how they manifest... A potentially MAJOR puzzle piece.

This seems obvious, right?

Wrong.

At other locations, which shall remain nameless, they just slap leads on haphazardly without measurement, never check if equipment is working, there is never a nurse response, video isn't adjusted, techs aren't monitoring the child remotely, conductive gel isn't reapplied, results take weeks... I could go on and on but I get enraged thinking about it!

At noon today, an entire team of doctors will come in to speak to us personally while Bertrand is still inpatient to discuss his EEG--which they have already read!

(Anyone who knows me can probably visualize how this makes me want to tear my hair out, bash my head against a wall AND hug someone all at the same time. I'm not dramatic at all.)

NEW YEAR'S RESOLUTION GONE BUST

I happen to LOVE making new year's resolutions. Every year I make just one resolution and I keep it. This year, my resolution was "no expectations".

I spent most of 2010 horribly disheartened by shattered hopes--disappointing ketogenic diet results, ACTH, hospitalizations, broken bones, zonegran, miscarriage, etc. 2010 was not a bad year, but having to pick myself up repeatedly after each instance was HARD.

So, by "no expectations" I meant that I would continue to do my best without emcumbering myself with a set expectation or any false hope. Unfortunately, I may have made a resolution I can't keep.

Apparently, I am hardwired for hope. Subconciously I grasp onto any shred of possibility and I make camp in crevises of ambiguity. The past 24-hours at Cleveland, I did more than make camp--I built a castle.

Doctors haven't even read Bertrand's EEG and in my dreams I was seeing Bertrand with some seizure control, taking him off of keto, weaning his zonegran AND keppra, & feeding him finger foods in his high chair. I woke up wanting to scream at my trecherous dreams!

I can say "no expectations" all I want, and spout off about the importance of quality of life all I want--my subconcious knows the truth. In the face of the impossible, I'm still trying to "fix" my baby.

I guess that makes me a mom.

A most unexpected talk with neurology

Monday, I went into Bertrand's neurology follow-up feeling conflicted. Bertrand has made amazing progress the past 2 months. He can stand with assistance, he can use his left arm, he can stay on hands and knees for a minute or two if placed there, he can sit without falling over, he is more social than ever, he is eating solid foods, he is making consonant sounds... but he is also seizing again.

Starting a few weeks ago, his myoclonus started making appearances throughout the day and his complex partial seizures show up toward the end of the day. I was optimistic but preparing myself to be terrified by what I saw on his latest EEG.

Unfortunately, I couldn't make heads or tails of Bertrand's EEG! Despite being slightly sleep deprived Bertrand didn't fall into his usual EEG trance. Oh, no! Bertrand was literally bouncing off the walls of his hospital bed! He was rolling back and forth, propping himself up on his forearms, talking at me (some cursing, some pleading, some flirting), trying to look at the computer monitor, playing with the blankets and the bed itself, reaching for toys... and he hadno myoclonus during the session. Of course, he had them before and after, just not during. Ugh!

A moving baby's EEG looks very different from a sleeping baby's EEG. I saw lots of crazy lines but only a handful of spikes. It killed me that I'd have to wait until speaking with Bertrand's neurologist to draw a conclusion. But, what a conclusion it was!

Bertrand's neurologist walked in and said, "if you hadn't told me this was Bertrand's EEG, I would've assumed it was a normal child with a predisposition for seizures. There is no way I would've thought this was a child with a seizure disorder!" The news got even better, as she admitted that she would've never thought Bertrand's EEG could ever look this good and that she was now a "convert" to ACTH and steroids.

However, during the session with the neurologist, even she noted Bertrand's myoclonus and "shakes". She believes that his shaking and possibly even some of the myoclonus could simply be Bertrand's movement disorder, but they look like seizures. To be safe rather than sorry, Bertrand was started on zonegran, a medication best suited for myoclonic seizures.

I have several issues with dismissing his abnormal movements as a movement disorder:

1. Those abnormal movements disappeared on the ketogenic diet, a treatment for epilepsy.
2. Those abnormal movements are frequently followed by disorientation, confusion or staring, which are indicative of seizure activity rather than movement disorder.
3. Occam's Razor: "entities must not be multiplied beyond necessity" (entia non sunt multiplicanda praeter necessitatem). When competing hypotheses are equal in other respects, the principle recommends selection of the hypothesis that introduces the fewest assumptions and postulates the fewest entities while still sufficiently answering the question. This means, why assume a child has both a seizure and a movement disorder if just a seizure disorder could sufficiently describe his condition? I am starting to believe that Bertrand just had epilepsy from the get-go and, because some of his seizures (shakes, jerks, and automatisms) resemble movement disorders, we were led on a wild goose chase.

While at the doctor's appointment, we discussed the possibility of restarting the ketogenic diet, but the consensus was that if Bertrand's seizures could be effectively treated by adding one other medication (zonegran), with minimal side-effects, that would be best. The ketogenic diet combined with the steroids and Bertrand's lack of sufficient weight-bearing poses a very serious risk to his already weak bones. (Last February's broken arm set Bertrand back bymonths developmentally AND made him miserable.)

Unfortunately, the rest of this week has gone horribly for Bertrand. In spite of starting the zonegran on Monday, Bertrand shakes and myoclonus have gotten increasingly frequent and violent. His social awareness is slipping and his irritability/fogginess is rolling back in. Matthew and I are already mourning the loss of our son's personality. Granted Bertrand still has 5 more weeks to achieve an effective level on zonegran in his blood stream, but at the rate his seizure control is slipping, that is 5 weeks too many.

Today, I called the nurse practitioner in-charge of the ketogenic diet at Primary Children's Medical Center to see how soon we could go back on the diet. The ketogenic diet worked immediately by eliminating Bertrand's atonic seizures and reducing his myoclonus to at most one per day. But Bertrand can't restart the diet for another 2 months at the earliest.

I want to be happy about what Bertrand has achieved so far, but I am devastated. Bertrand is already slipping away and the next stage of the prednisolone wean is supposed to start Monday. How can I avoid losing my baby? Do we start the modified atkins diet, doctors be damned? Do we wait to continue the prenisolone wean? Do we increase or reduce one of his medications (keppra, zonegran)? You should never change multiple variables at once but the temptation is almost impossible to resist when your child's welfare is at stake.

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.

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.

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

Neurology Follow-up

A first! Today was the first of Bertrand's numerous neurology exams I was able to leave with a light spirit--or at least without a heavy heart.

Bertrand's neurologist was VERY impressed with his appearance at this exam--although this was his seizeiest day in two weeks probably due to his cold. First, she remarked at how big Bertrand has gotten (35.5 inches and 30 pounds) and quickly thereafter she got excited by how steady he's become and how great his eye contact has gotten. His neuropathy appears much reduced, his tone is now normal (yay!) and this was the first time she was able to get some of his reflexes!

She asked if we were having any problems with Bertrand's ketogenic diet. I said no, but we're dealing with constipation now and trying to find the right dose of miralax. The doctor said that her daughter is age two and a teaspoon and a half of daily miralax works for her. I asked her if she knew how many grams that was and the doctor started laughing! "You already sound like a keto parent!" I took that as a great compliment. ;)

Next we discussed Bertrand's EEG, which after a month on the ketogenic diet had minor improvements, but nothing drastic. She fully expects to keep seeing improvements over the next 6 months, and wants another EEG in June. We'll schedule it during our next neurology exam on April 1st. Anyone have suggestions for a fun April Fools joke for a neurologist? :)

December MRI-wise she also saw the white matter issue. If it were up to her, she'd get another MRI next December. The current loss has not progressed since April 2009, but she wants the University of Utah's leukodystrophy expert, Josh Bonkowsky MD, PhD, to look at it. I got excited! Everyone knows how much I love PhDs--the ones who treat Bertrand, not just my husband! Dr. Bonkowsky's clinical specialties are neurogenetics, language development, leukodystrophies and cortical development. "His clinical studies are focused on understanding the clinical features of novel leukodystrophies, and on the genetics of complex human neurobehavioral traits, especially language impairments." You don't get much more novel than Bertrand, so I have a feeling there will be a good fit. :)

Ever since we saw possible remote "ischemic insult" on B's MRI reading, the stem cell torch was rekindled. Now, Bertrand's white matter damage (leukodystrophy) is very symmetrical, which tends to reinforce the opinion that it's root cause is genetic, resulting in an ongoing metabolic process. Stem cells, in particular Bertrand's banked cord blood stem cells, wouldn't help this at all because the genetic fault causing the damage would be found in them as well. However, it is possible that Factor V is at play in Bertrand's family tree (Matthew's mother's embolism and my paternal grandmother's strokes), if this is the case then ischemic insult is a possibility and Bertrand's very own stem cells could help--no chemotherapy necessary, just a transfusion of his own blood. The stem cells simply know to go to the point of insult in the brain and repair. We saw Dr. Kurtzberg work miracles of this kind for children with stroke and cerebral palsey at Duke University.

Our neurologist at the University of Utah didn't shoot this wild theory down. She asked that we bring her the publications on this form of autologus stem cell therapy. If Bertrand's brain damage doesn't progress, or we can reasonably say it has stopped, his own cord blood stem cells may be back on the table as a very real treatment possibility. And we MAY be able to have it done at home in Utah!

Getting back to immediate treatment, however, Dr. Sakonju did mention adding more AEDs for Bertrand. The drug B would've started today is Klonopin. However, given that B had a significant Keppra increase 2 weeks ago, it'll be another month until we see it's full effect, so I didn't want to complicate the experiment by adding another drug. Furthermore, we'll be seeing the keto team in late February. I would like to tweak Bertrand's keto ratio (going to 3.5:1 and possibly 4:1) first before adding any additional medications. (Tweaking the diet doesn't cause side effects like sleepiness, rage, cognitive impairment or liver failure like adding another medication can.) This would give us a month to see the effects of an increased ratio before our April neurology follow-up where we'll readdress medication.

Lastly, of course we couldn't leave without discussing blood work. Bertrand does not present like a child with Dravet's Syndrome (he's had none of the requisite febrile seizures). His epilepsy seems to be a form of Myoclonic-Astatic Epilepsy (MAE) a.k.a. Doose Syndrome. In order to better treat either of these specific kinds of severe intractable epilepsy, and for the purposes of family planning, we'll start with testing Bertrand's SCN1 gene (for deletions etc.) and move from there. I promised Bertrand that he would get at least one month of 2010 poke-free, so we'll likely do that draw in late February, after our insurance approves the test, and grouped with the rest of his keto blood work.

PS - Bertrand threw a massive fit when we went by the lab to drop off his urine sample. He seemed genuinely shocked when they let him off the table without drawing blood. I was proud of him for being so smart, fiesty and having such good recall! You can tell I'm a special needs mom because I can turn my child's loud public bout of hysterics into a positive. :)

Our First Guest Post!

Amy is an AMAZING mom from Canada. Her beautiful daughter Ava has been facing challenges, like Bertrand's, which no child should ever have to face. Amy is fighting to save the spark that is Ava. She has accomplished wonders! Their story inspires us. Even though they live so far away, we feel close to this beautiful family. We share their story because, in a way, it is also our story.

The beautiful Miss Ava.

Here is Ava's story in Amy's words.

I have searched the Internet for many kids and parents going through similar experiences but to be honest this is the first time reaching out. I think it was because Bertrand reminded me so much of my daughter. There are differences of course but the character and movements were so much the same. I’ll share my story and try not to make it too long.

Ava was born on her due date weighing 8 pounds 8 oz. The only problem that came from labour was I had a run of the mill infection that could be dangerous for her if I didn’t get a few doses of shots. I did get one during labour but their was not enough time to get the second. I think babies show symptoms right away so there was no worry that Ava had this infection transferred and her neurologist doesn’t believe it to be a factor now. She scored perfect on her Apgar and the only thing unusual about her was that whenever someone opened the creaky door to our hospital room, she would jump and her moro reflex would be activated. One nurse thought it a bit peculiar but didn’t follow up on it. We were too busy enjoying our new baby to worry at all. Silly.

Ava is my second baby and unlike my first she had no troubles breast feeding and her sleep habits were exactly normal. I noticed she was really floppy at about 5 months. I also noticed that her moro reflex wasn’t going away and that she would startle or jerk many times a day. So subtle that even her dad to this day hasn’t recognized one. At six months I worried that she wasn’t even close to sitting even with support. She was so floppy. I took her to the doctor who referred her to a pediatrition and at eight months we saw him. He told us to come back at 12 months. In the meantime we started Ava on physiotherapy, signed her up to speech therapy and began early intervention. I told speech to write her name down for the waiting list but she most likely would not need it. We came back at 11 months and by this time I was really worried. She couldn’t raise her hand to her mouth but would take aim and miss several times before succeeding.

At first we thought it was so cute. I had started researching on the Internet. Retained reflexes and fight and flight responses thinking maybe this was why she could not move forward. I googled startle and found a site on startle epilepsy or myoclonic seizures and something in by head clicked. When we went to the pediatrition he saw her startle many times and I asked him if it could be a seizure. He laughed and said no. Definitely not a seizure but it would get us in to see a neurologist quicker. I squared my shoulders and pointed at the doctor and insisted he write down possible seizure activity. Thankfully he did.

Right then and there he diagnosed her with global developmental delay and had grim and final thoughts about her future. Not one real test was performed so while I was heartbroken by the tone the doctor relayed, my husband didn’t quite get it (even though he is a nurse) and was relieved that the doctor did not look at Ava and say right out that he saw her to have a certain disease. I guess there was hope there.

When we saw the neurologist three weeks later, Ava was set up for an EEG. I couldn’t believe how messy like a child’s scribbles her brain waves looked like but I never had any others to compare it to. The neurologist spoke to us right away saying that Ava was indeed having seizures. There was as many as one seizure or seizure activity every five seconds with a normal background. I knew it in my heart and was not surprised but at first I was really happy. Here was something we could fix easily enough with drugs. Once we stopped the seizures she would progress and everything would be fine. The doctor looked at me and said seizures do not cause delay, and that with the combo of both delay and seizures the prognosis was not good. I couldn’t imagine having that many seizures in one day not effecting her ability to progress and was excited to try her on the 5mg of volproic acid twice daily to see how it would help.

After about two weeks on the drug she began sitting on her own. (13 months) I couldn’t wait to show off her new skill to everyone and was so proud that she would catch herself with her arms to stop her falling. She was using her hands meaningfully. When she went to full dose and the first day of her swim lesson she began to say words. Mamma over and over in the pool. Num num ant lunch baba and began to wave her arm furiously up and down for a wave. Suddenly for three days she seemed to do nothing but sit and stare and my gut told me she was intensely focused on maintaining her sitting. She would say mamma for a few more weeks but no other words then that one stopped too. Her jerks began to progress until I saw them as frequently as before the meds and knew I had a decision to make. The drugs weren’t effective, she stopped making eye contact and would actively refuse to meet my eyes. I began to train her to look at me and read about the importance of eye contact and gaze and brain connections. I played peek a boo around her crib, I would tell her no, no, no until she met my gaze and then yes when she did, making a game of it.

Another thing I noticed was the lack of tears that she would have. Her eyes seemed moist but no tears would ever spill out. (That’s when I came across your site the lack of tears fitting a match) I asked her pediatrition about it and his stupid remark was that maybe her feelings haven’t been hurt enough to create tears. In the meantime we had an MRI set up but the wait was six months! Six months was too long to wait and I called the hospital every day for three weeks to get on the wait list. (Our referral didn’t even get there until we drove three hours to Halifax and moved it from one office to the next on our own.) Nothing could be done to speed up the process.

I told them we were flying to Ontario to a private clinic where my sister in law is a technician. They called us the day they got the request and fit us in the very next day. Her MRI was clear. Showing only slightly enlarged right ventricle. Later that month I got my local doctor to xray her shoulders and hips to check for any slight dislocation plus she had a tiny sacral dimple on her bum so I wanted to rule out a tube defect. The xray showed her upper arm bones to be slightly thicker but that was all. I asked my neurologist about the ketogenic diet and told her that if her seizures didn’t approve I wanted her on it. The doctor said no, she was too young. I pushed a couple weeks later and she said maybe. I pushed harder and Ava was set up for a week in the hospital to begin the diet! I was so happy, I daydreamed constantly on the miracle that would take place because I was so sure the seizures were causing her delay.

After about a week of this I put a damper on my thoughts and began to think realistically. If the diet did not work the way my deepest hopes believed, maybe we could stop her seizures at least. We saw a slew of specialists the first day. She was supposed to fast just from midnight till 10 a.m. After her eeg but her eeg got pushed back and she didn’t have any food or drink till after 3:00 p.m. The eeg showed a huge decrease in her seizures, with no seizure activity in between seizures and those ones cut by 75 per cent. The neurologist again said that this confirmed that her seizures are not causing her delay but I was not convinced. Hadn’t she just fasted? How do we know if the eeg would show the same results if she was eating her regular diet?

She hated the food at first and just cried the entire time I or my husband fed her. The third day on the diet her ketosis nice and high and a deep purple colour on the sticks she had finished being fed at the high chair. My husband banged to his hand on his table and amazingly Ava copied him. He did it again and again she imitated. He went to do it again but at the last second he stopped to trick her. She raised her hand then froze and let out a deep belly laugh oh oh oh she laughed. We were thrilled. He stuck out his tongue and she did too. Her energy changed. She began to look around and watch what was going on around her, like a fuzzy veil was lifted. Eye contact returned. A week later she was picking things up and putting them to her mouth and new sounds like wha were emerging. She got a rash similar to your son’s and her cheeks are flaming red but the docs aren’t concerned. They say it is contact dermatitis from the hospital sheets. Mmm.

It took me all day to make the first week of her food. I thought I would cry. I weighed out everything twice to be sure. The next time I made her food it only took an hour. And now I just prepare the days bottles and three days of meals. She started communicating in kisses lately. Pretty cute. She kisses to get our attention, and will lean towards the person she wants to ‘speak’ to. He ketosis has gone up and down. I think mainly because some huge molars have been coming in. Some days her jerks are coming in but weaker somehow and some days there are none. Nothing steady yet though. She still cannot crawl and is no where near that skill. The changes we see are slight but mountainous really. At least she seems to be able to focus more.

She had a genetisist see her and I could have kissed her after speaking with her. I had a list of possibilities (mostly searching for good outcomes but not always) including biotinese, angelman’s, hyperekplexia, deficiencies in other vitamins like b or folic acid and a bunch more I can’t remember off hand, oh yeah a wood’s lamp test. Within the first minute she reeled off the top of her head most of my list. It was fantastic. I got excited and told her I had thought of all of those and she asked to see my list. She humoured me and added the missing items of what to test. We had a microarray done which came back normal and the angelman’s and biotenaise is yet to come back. The regular chromosome test did come back with one showing angelman’s but when they tested 200 others they did not show anything. They think it is a fluke chromosome.

As far as intervention goes I have worked hard with Ava and nicknamed her Rocky. I have learned to back off a bit though and focus more energy on what I call kissing therapy. She is quite stubborn and will only do something when she is ready. To get her to go into crawling position which she hates I have tried everything. Her legs tucked into my lap and hands ahead of my knees, a skateboard, a two litre plastic pop bottle wrapped in a sock under her belly and a constant cheering section. I have a feeling she won’t crawl any time soon. I stood her up with her back against the couch and practiced standing (she loves to be upright with support) and she stood for about three seconds before leaning casually back against the couch! She began to shake her head no and yes again (a skill she gave up around the same time as her words) and when I pat my cheek against her mouth (don’t ask me why) she says mama. She turns to look around the room and is enjoying her food much better when I make it myself.

She mostly eats baby food but I am beginning to reintroduce solids without too much trouble. I also have recently noticed that she stays in ketosis better when she drinks ketocal rather than her cream and milk mixture. I think her calories are 720 a day and she weighs 26 pounds. I’ll have to look that up again.

One of the things that got my attention is that last week my husband put her down in the living room and walked away to tend to our other daughter. Ava, feeling abandoned started to bawl and I went over to pick her up. She had real tears on her cheeks. The first ever (she is 16 months). She has cried since then but not with tears so I don’t know what to make of it. The only thing I could find relating to the lack of tears and seizures is allgrove syndrome.

As you know it is so frustrating not knowing. I feel as though I have to save her somehow. What real motivation do the doctors have? I wish I knew more and I feel that there is still hope. Whether through intervention or diet or something. When I look at my baby I see two possible outcomes. One with seizures and delay and probably autism, the one who doesn’t look at me and drools and stares off. The other is my smiley, stubborn girl who is nosy and sociable and whose fat cheeks I just want to kiss all day. I see something in her eyes that I am trying to hold on to.

I wish a magic wand could help this lovely fairy princess!

End of Year Medical Marathon

Tuesday and Wednesday of this week became an end of year medical marathon for Bertrand. For a variety of reasons, not the least of which because our insurance deductible is met through December 31st, several of Bertrand's procedures were shoehorned into last minute holiday cancellations. Things went about as smoothly as one could hope for, and the preliminary results are very good!

Sleep Study
Results in 2-3 weeks.

EEG
Results in 1-2 weeks.

MRI & MR Spec
Results next week.

VER & ERG
Results same day: normal! Rules out Batten's disease (CLN3) and the other CLNs.

Donnell Creel, Ph.D, was the doctor who administered Bertrand's VER and ERG, and all I can say is that both Matthew and I are in love with Dr. Creel! Having a Ph.D rather than an M.D. was refreshing. Dr. C has a great sense of humor and he even gave us a mini-tutorial on electrophysiology! It was awesome! I wish more doctors would encourage such learning in their patients and patient's parents.

Labs
Unfortunately, in spite of being stuck SEVEN times, Bertrand's blood draws were unsuccessful. We will have to go next week to deliver a urine sample and draw blood samples for Dr. Longo.

And much hair pulling ensues...

If I could sum today up in one word, it would be "Arghhh!"

First off, I apologize for not putting up a Bertrand video yet this week; it'll have to be tomorrow. I took video tonight, but since I waited until too late to take it, Bertrand is just falling asleep in the video. Don't get me wrong, he is adorable, but it doesn't really showcase any of the progress he has made on the diet... Unless falling asleep sitting up can be considered progress. :-P

That is not what has me pulling my hair out though. Bertrand has been sleeping a LOT on the ketogenic diet. He slept a lot before the diet, but he is breaking new records while on it. Almost 20 hours one day! But most days he sleeps closer to 18 hours, which is still a LOT for his age. This is very concerning to me as well as his Keto Team. There could be several causes.

• Hormone or glucose levels
  
• Sleep apnea (because of Bertrand's adorable chunk)
  
• Sleep seizures
• Healing
• Toxicity

Bertrand's fasting lab results from this morning all came back normal, which is good and rules that out as the cause for the sleepiness. However, what now has me frustrated is, that instead of saying, "Hey, let's keep moving forward with the one treatment which has helped him the most" his keto team is saying, "Hold up. He needs a sleep study which will take two months to get, so until then no more fine-tuning the diet, and we're not going to check his med levels at all, but if anything we'll increase them." ARGHH!

I've been really trying to be more patient and work with our Utah team instead of around them, but everything I heard today makes me want to run to Johns Hopkins! At least Bertrand's neurologist gave us the option of staying the current course without upping his medicine yet.

At least five other keto parents and one adult on the diet have indicated that YES keppra can be a cause of sleepiness and toxicity when on the diet, as it was in their cases. Wouldn't it be easier to test that now, by reducing it 50ml than waiting two months for a sleep study and EEG (because we have to be seen in sleep clinic first before they will schedule a study)? If that doesn't work, we could then try moving the dosage up. Or at the very least, if his labs are fine, why should this prevent us from moving forward with tweaking the diet and increasing at least his dinner to a 3.5:1 ratio? Something is being lost in translation or this is just CYA on our keto team's part.

*Sigh.*

To be honest, I was sick for three weeks and have been exhausted for the past week and a half. I can't even imagine what it would be like to be Bertrand: sick for two years?! Following that logic, it is not too far fetched that Bertrand could be catching up on all the sleep and healing that missed out on for a very long time. I hope it is just that. And, I hope that by the time his sleep study rolls around, he won't need one anymore. :)

24-Hour EEG Results

Oh yeah, I forgot to mention that Bertrand's 24-hour EEG was read yesterday by four neurologists, including Dr. Colin Van Orman, an epileptologist. Bertrand's EEG was highly abnormal. There was lots of noise, focal seizures and generalized seizures. Bottom line: they all agreed with the April 2009 Duke University finding of multi-focal epilepsy.

Let me take a moment here to explain something that until a few months ago was not clear even to me. Conditions like epilepsy and autism, both of which Bertrand has, are really symptoms, not stand alone diagnoses. Like a runny nose can be caused by viruses, bacterias, allergies, genetics, etc., so too can epilepsy have a variety of root causes. The same goes with autism. In Bertrand's case the root cause of both is believed to be an undiagnosed genetic disorder.

Summary of the 24-Hour EEG

Not surprisingly, based on my reading of his EEG, Bertrand still appears to have what the Duke folks termed "multifocal epilepsy". Unfortunately, according to Bertrand's neurologist, we won't be getting the results on Bertrand's EEG back for another one to two weeks. It may be even longer until we can work with an epilepsy specialist to get him treated. :(

Bertrand calmed his nerves by playing the Wii with his Daddy minutes before leaving for the hospital.

Bertrand put his game face on right away and was the perfect patient!

Bertrand slept soundly in his baby jail. Unfortunately, his mommy on the couch did not--the nurses coming in every hour would wake her up. Luckily, Bertrand slept through it all.

The following is a series of stills taken of the EEG monitor during Bertrand's sleep. Just about any 15-second interval during the 24-hours had at least one "XL Spike" and/or "XL Event" in it. I was not surprised by the impressive looking Spikes and Events during his waking hours (accompanied by staring, eye flutters, mouthing, teeth grinding, and startles), but these images were taken when he was completely still.

To put things in perspective, here is an image of what a normal EEG looks like:

Bertrand in hospital

Bertrand will be in the hospital until tomorrow afternoon getting a 24-hour EEG. His seizures have increased in frequency and duration, and we're trying to figure out why.

In the mean time, enjoy some pics of our adorable little marshmellow head.

Bertrand jacks into The Matrix.

Bertrand finds Agent Smith.

Bertrand wonders why he didn't take the blue pill.

Done saving the world, for now.