MRI and MR Spec Results

MRI: BILATERAL ABNORMAL SIGNAL INTENSITY THROUGHOUT THE PERIATRIAL WHITE MATTER. IMAGING FINDINGS ARE SYMMETRIC IN APPEARANCE. FINDINGS ARE SUGGESTIVE OF A TOXIC/METABOLIC WHITE MATTER INJURY PROCESS. ADDITIONAL CONSIDERATIONS WOULD INCLUDE REMOTE ISCHEMIC INSULT. IMAGING FINDINGS ARE NEWLY CONSPICUOUS COMPARED TO THE PREVIOUS STUDY.

MR Spec: NONSPECIFIC SPECTROSCOPY WITH ELEVATION OF THE CHOLINE PEAK SUGGESTIVE OF CELL MEMBRANE TURNOVER. THERE IS QUESTIONABLE PRESENCE OF A LACTATE PEAK BURIED WITHIN THE BASELINE NOISE.

Lab Results: AFP: 102.5 (normal range: 0-15); ALT: 312 (normal range: 5-45); AST: 263 (normal range: 20-60)

Doctor's Take: "There are no changes since the evaluation done at Duke University [April 2009, age 16 months], but there are changes compared to the initial MRI done at PCMC [August 2008, age 8 months]." And, "This pattern is totally nonspecific and does not guide us further. I looked for abnormal peaks on the MR spec and there are none."

Our Take: Breaking down the medical jargon, what does "remote ischemic insult" mean? Remote means it happened long time ago. Ischemic means due to circulation (or lack thereof) and insult means brain injury (stroke and embolism are in this family). And my best guess for "periatrial white matter" is the that they meant "periventricular white matter" or the part of the brain with myelinated axons surrounding the ventricles (which contain the CSF) in the brain. Someone please correct me if I am wrong!

(Or, as Prof. Might likes to put it: grey matter is the CPU and white matter is the networking cable. Bertrand appears to have a networking problem.)

Since there has been no change in the MRI since April 2009, even though these findings are suggestive of a metabolic injury process, this also opens up the possibility of ischemic insult (for which Bertrand's cord blood could be used as a therapy) as a possible cause of Bertrand's issues. Unfortunately, this means the field has been widened instead of narrowed, and time may be the only determinant.

Holiday Photos

We had a fantastic time hosting the Might family for the holidays at our house this year! We can't wait until we get together next Thanksgiving! Below are some belated photos. More images can be found HERE.

While the obligatory Bertrand shot is at the very bottom, today my baby #2 (the house) leads the line up. It has been over a year of hard work but the house is starting to come together. She barely looks her age! We'll celebrate her centennial birthday with a party in 3 years. By then, I hope my To-Do list with the old gal will be shorter! :)

Limbo

I was desperately hoping to get at least the results for Bertrand's MRI and MR Spec today, but my phone messages have gone unanswered. I will try again, in person, tomorrow when I take Bertrand in for his blood work. I was supposed to take Bertrand in today, but he took an almost 4 hour nap after his lunch, which made it impossible. In a way I was glad he got one more day of rest, since his hands, feet and arms are all still bruised from the seven failed blood draws last week. :'(

I hope we get some results back this week--good news--to start the new year off with! Please wish us luck tomorrow.

Video of Bertrand on week 6 of the ketogenic diet

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.

Bertrand's inner ninja

The MRI revealed the cause of Bertrand's problems--beneath his cuddly exterior, there is a miniature ninja:

Genetic-Metabolic Clinic Follow-up

Bertrand's follow-up appointment with Dr. Longo and Rena, his genetic counselor (who Bertrand has a major crush on), went really well. B was said to be clearly progressing developmentally and not as spastic! Woo hoo! But in order to keep working toward a diagnosis, Dr. Longo needs more data. He went ahead and ordered the following tests/procedures:

• Brain MRI (looking at myelin formation)
• MR Spectroscopy (looking at N-Acetylaspartate levels)
• Electroretinogram (ERG)
• Visual Evoked Response (VER)
• Possible Neuronal ceroid lipofuscinosis testing (CNL3 Batten's disease)
• Alpha-fetoprotein & liver function tests--the usual tests for Bertrand
• Urine Polyols
• Alpha-l-antitrypsin deficiency

The ERG and VER are to test Bertrand's vision to see if it is deteriorating as consistent with neuronal ceroid lipofuscinosis, types 3 or above. Bertrand has tested negative for the early onset types CLN1 and CLN2, which makes this unlikely given how early his condition manifested. However, if his vision is being affected, then these are very much a possibility. There are 7 additional types of neuronal ceroid lipofuscinosis which can be tested for (at $3k a pop!), but the most likely next one would be CLN3, also known as Batten's disease.

The MRI is looking for brain abnormalities which could point us in the direction of SCN1, etc. testing. And, the MR Spec is being used to look for N-Acetylaspartate which is a strong indicator for brain damage or disease.

A urine sample to test for polyols (erythritol, xylitol, arabitol, and ribitol) is being sent to Baylor because elevated levels have been observed in inherited disorders of the pentose phosphate pathway.

And, lastly a test for alpha-l-antitrypsin deficiency is being sent out. This is a common genetic condition which causes elevated liver values in otherwise asymptomatic patients, but can cause severe lung and liver damage resulting in death for smokers with this condition. (Good thing Bertrand doesn't smoke!) For a long time Bertrand's medical team has assumed that his elevated liver function and movement disorder were related, but this test (a sop to me) would see if the elevated liver function is unrelated.

Rena, being the scheduling genius that she is, was able to arrange for the MRI, MR Spec, ERG and VER this Wednesday (12/23)! Which is fantastic! And then in an amazing double whammy, Dr. Sakonju was able to strong arm the Sleep Clinic into conducting Bertrand's sleep study and EEG before being seen in the Sleep Clinic in late January--TONIGHT (12/22). Quite the feat! Our insurance would pay for most of B's proceedures until December 31st, after which our deductible resets, so this accelerated testing is a blessing in more ways than one.

Dear Santa,

All I want is a healthy baby with no brain damage for Christmas.

XOXO
Cristina

Bertrand Loves to Read

...but he doesn't like to look at the camera!



Thanks to B's Aunt Jessica for being such a great sport!

Case Reopened

Bertrand's positive response to the ketogenic diet kicked off a flurry of emails among his medical team at the University of Utah. It seems that efforts to diagnose him are being renewed. Here are some excerpts from emails today.

From Neurology:
[addressing genetics]
Could you help review whether the following causes of metabolic epilepsies that present with infantile onset of myoclonus have been tested?: cerebral glucose transporter (GLUT1) deficiency, pyridoxine dependent epilepsy, neuronal ceroid lipofuscinosis, cathepsin D deficiency, mitochondrial disease such as Alpers syndrome (POLG deficiency), Gaucher disease type 3, and guanidinoacetate methyltransferase (GAMT) deficiency. I think Dravet's is also on the list with SCN1A mutations (although he did not present with prolonged febrile seizures which is classic for this disease). I am not sure the LFT abnormalities are a result of the seizures or whether they are a separate phenomenon due to an inborn error of metabolism. Unfortunately, I did not ask for a serum glucose when the CSF glucose was drawn back in April, but the CSF glucose was not <50.>

From Genetics:
[responding to neurology]
1. cerebral glucose transporter (GLUT1) deficiency: not sure: glucose and lactate were normal in CSF (they are usually low).
2. pyridoxine dependent epilepsy: normal PLP in CSF
3. neuronal ceroid lipofuscinosis: normal enzyme assay for types 1 and 2. Others types are possible
4. cathepsin D deficiency: possible, would investigate together with ceroid lipofucsinoses other that 1 or 2 if the ERG shows specific abnormalities (he had not done this at time of our last visit),
5. mitochondrial disease such as Alpers syndrome (POLG deficiency): this is possible: I have not seen him in a while, but he has liver involvement and brain involvement. Would send mtDNA depletion panel
6. Gaucher disease type 3: there is no real hepatosplenomegaly that is severe in patients with types 2 or 3
7. guanidinoacetate methyltransferase (GAMT) deficiency: the MR spectroscopy done at DUKE had all sort of pseudoanomalies, but creatine was NOT reported as abnormal.

Unfortunately, there are several conditions that respond to ketogenic diet without a specific reason, in addition to GLUT1 and PDH deficiency.

Depending on how this child is progressing (if he is doing better as he was at his last visit, would doubt mtDNA depletion syndrome) would proceed with DNA testing for mtDNA depletion syndromes (all of them present similarly) and some of the neuronal ceroid lipofucsinoses (depending on how well he can see). Dravet syndrome is a possibility for me as well and would fit with the minimal abnormalities found in the brain MRI.

This email volley has made me hopeful that perhaps 2010 will finally bring a diagnosis for Bertrand! And, perhaps we can start planning for the future of our family.

Oh, and I didn't forget. Here, as promised, is the video of Bertrand in week 5 of the ketogenic diet.

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. :)

Ketogenic Diet Check-up

HERE are my talking points (in PDF) from the meeting with Bertrand's keto team.

The meeting went really well. They've handed over the reigns on a lot of B's diet finetuning and supplements now. We can give Bertrand B6 (50mg twice a day) and they are looking into the piracetam supplement for him.

Once his new labs come back tomorrow, we may be able to start reducing his Keppra (if that is determined to be the culprit of his Bertrand's sleepiness) and we should get the green light to up his ratio to 3.5:1. (We'd probably start by upping the ratio on just his evening meal first.)

Those are a LOT of levers on the diet. We've learned our lesson about changing only one thing at a time, so it'll probably take the next two months until our next appointment to implement all the changes! These are exciting times. :)

Good Orthopaedic News

This morning Bertrand got some great orthopaedic news! His two hours of stander time every day has paid off big time. His hips, knees and feet now look great! Dr. Woiczik recommended as much time in the stander as he'll tolerate (over 2 hours would be even better). She wants to see Bertrand back in another 7 months to take more x-rays and see if orthodics may work better for him then, but for now she thinks he is building great strength and flexibility on his own!

And now, because I couldn't resist, here is another graph for Bertrand's one-month ketogenic diet check-up later this afternoon. :)

A picture is worth a thousand words

This graph is one of several included in the report I am presenting to Bertrand's Keto Team at his one month check-up tomorrow. I think it pretty much says it all! The diet is working slowly but surely for Bertrand. :) On a daily basis it is so hard to see the forest for the trees, but a graph like this sure does help!

NOTE: These numbers start from a week into the diet when these seizure types became infrequent enough to count! Before starting the diet, both kinds of seizures were in the 100s. We are still not counting Bertrand's absence type seizures.

More 2nd Birthday Party Goodness

Bertrand's 2nd Birthday Party

Click HERE to see more pictures from Bertrand's second birthday party today! Everyone had a fantastic time! While it was not the most keto-friendly of parties, Bertrand did not mind at all. He was too busy watching his friends, balloons and Elmo!

Musik Garten

Bertrand had his very first Musik Garten class today! Musik Garten is an educational program that helps infants, toddlers, and children develop a deep love of music and the ability to express it. This class is run through DDI Vantage, our county's early intervention office, so it is a class full of special needs kids under the age of 3. Just from today, I can tell that Bertrand is going to really get a lot from this class! Since he loves music, he barely fussed the entire time. (His speech therapist Meghan showed up to cheer him on.) Furthermore, the teacher Ms. Catherine is fantastic and personally familiar with seizure disorder. I think this is a recipe for success!

Just so you can see why this class would be useful to special needs kids, here is some information from the Musik Garten website:

• Music is a language, and children are oriented toward learning language.
• Music evokes movement, and children delight in and require movement for their development and growth.
• Music engages the brain while stimulating neural pathways associated with such higher forms of intelligence as abstract thinking, empathy, and mathematics.
• Music's melodic and rhythmic patterns provide exercise for the brain and help develop memory. Who among us learned the ABC's without the ABC song?
• Music is an aural art and young children are aural learners. Since ears are fully mature before birth, infants begin learning from the sounds of their environment before birth.
• Music is perfectly designed for training children's listening skills. Good listening skills and school achievement go hand in hand.
• Developmentally appropriate music activities involve the whole child-the child's desire for language, the body's urge to move, the brain's attention to patterns, the ear's lead in initiating communication, the voice's response to sounds, as well as the eye-hand coordination associated with playing musical instruments.
• Music is a creative experience which involves expression of feelings. Children often do not have the words to express themselves and need positive ways to release their emotions.
• Music transmits culture and is an avenue by which beloved songs, rhymes, and dances can be passed down from one generation to another.
• Music is a social activity which involves family and community participation. Children love to sing and dance at home, school, and at church.

Now, I'll admit that while I thoroughly enjoyed the class with Bertrand, it was daunting. While I am used to Bertrand being delayed around normal children, it was shocking to realize that he is the most delayed out of a group of delayed children. The kids in the class ranged the gamut of possible delays: physical, mental, behavioral, sensory, communication, etc. Not only does Bertrand encompass all of those issues, he is also the most delayed at each. Quite the distinction! I know several parents probably left that classroom thinking, "hey! things aren't so bad!" I comfort myself in knowing that we made a lot of their day, if not week! :)

Two Year Check-up

Bertrand had his two year check-up today with Dr. Samson-Fang, his pediatrician. There is nobody who doesn't think she is amazing! We're in the fan club too. :)

At the appointment, first Bertrand got his few remaining shots and is through with his vaccines until about age 5. Then, Dr. Samson-Fang and I talked about:

• What the status of Bertrand's team at the hospital is.
  
• How to manage Bertrand's health on the ketogenic diet (supplements, etc.).
• Getting insurance to cover KetoCal or KetoVolve.
  
• Which sugar-free medications he can now use for fever, etc.
  
• Which labs will be run (vitamin D, albumin, PTT--blood clotting function).
• Getting Bertrand on the medicare waiting list (5-7 years).

Going into Bertrand's one month Ketogenic check-up on Monday, I think Dr. Samson-Fang's support means a lot. She liked the ingredient list for the KetoVolve formula (no transfat, plus MCT oil) more than KetoCal's so I am hoping that will give me sufficient leverage to convince our dietitian to let Bertrand give KetoVolve a try.

The next few days will be quite the whirlwind! Tomorrow, Bertrand starts his Musick Garten class. Saturday he has his birthday party. And Monday, Bertrand has an orthopaedic appointment, then a fitting for his leg braces, physical therapy and then his one month keto follow-up! Whew! Glad we're finally healthy again to tackle all this!

Happy Second Birthday!!!

Today, Bertrand turned 2 years old! Joy! Joy! Joy! This is a milestone of momentous importance to our family. 15 months ago we never thought this day would never come. Bertrand was given a grim prognosis and a 24 month life expectancy. We've made every day since count, and will continue treating each day with our precious little boy like the gift it is. I am so overcome with happiness that my baby is still alive. I've been through one crying jag after another all day long, but like I told a friend today, it would be a lie if I said all those tears were happy ones. Several of Bertrand's special needs cohort (Cooper, Gage, Ethan, Joseph and countless others) were not so lucky as to make it to their second birthdays this year. We hold them in our thoughts and in our hearts today as always.

An Update & Experiment Gone Right

Bertrand has fully entered the fine tuning stage of the ketogenic diet. We are pretty sure that he is medically safe going into week 4. He is no longer sick or dehydrated and his glucose test from yesterday was great at 71 (normal range 60-180 but for the diet >40 is considered good).

The first few weeks on the diet brought a big reduction in the number of his startles (myoclonus) and the elimination of his drop (atonic) seizures. Then over the past few days his startles started increasing, the drops returned with a vengence, and I was heartsick watching my baby turn back into a staring little vegetable.

What changed? Nothing except Bertrand got well and his appetite returned. For the first time since he'd started the diet, Bertrand was getting his full fluid and calorie allotment. While I am quite happy that Bertrand is getting his fluids (his urine before was a little too yellow in my opinion), I think his dietitian may have overestimated Bertrand's calorie requirement. I've been participating in a ketogenic diet support group online, and there are bigger, heavier, more active four-year olds on the diet with lower calorie allowances than Bertrand!

I've also been keeping a very detailed log of Bertrand's daily intake and activities. All of his drops seizures happen within 15 minutes of drinking his KetoCal shake. And yesterday was the straw that broke the camel's back. Bertrand had 5 drops and 12 startles! This was as bad as the first day on the diet! (How quickly I got spoiled. I would've killed for seizure numbers like that once upon a time and now they are too high. I guess that's the miracle of the ketogenic diet!)

Today I went renegade and dropped Bertrand's calories to 950--almost 200 calories lower than what his dietitian prescribed. While his ketones still read as only moderate, he had only 1 startle and 1 drop all day! And, they both took place in the morning! For myoclonus (startles), this is the best we've seen since starting the diet! He was also more alert! My greatest hope is that we get Bertrand's very first myoclonus and atonic free day tomorrow--for his birthday!!!

PS - Turns out that my cold which won't go away is strep throat. I started a course of antibiotics today and am already starting to feel more human! Woo hoo! :)

Driving Under the Influence

As Bertrand and I made our way out of Primary Children's Medical Center today, we were almost hit by a car. This wasn't a major occurrence and I should probably be writing instead about how our observation at the Carmen B. Pingree Center for Autism went (well), how Bertrand's blood draw went (awful) or how many drops he has so far today (unfortunately, two). But, no. The driver of the little burgundy honda takes precedence today because her tear stained face belied the fact that she was driving, like I have so many times, under the influence of grief.

There have been countless times, as Bertrand and I left one of his doctors appointments, when I have almost hit someone, run stop signs, red lights and missed turns--all in the same 3 minute drive home. Once I was so bad, I pulled over at my husband's office (conveniently located between our house and the hospital) because I was simply not safe to drive. I've since thought that doctors, much like bartenders, should be obligated to ask, "do you need a cab?" after giving the news that a child is dying because of a metabolic/neurodegenerative/genetic condition, cancer, etc. Or even non-fatal news like a child will never see, walk or learn.

Speaking from experience, grief generated from news like that tears your soul out. You're a shell of a human behind a wheel. You wouldn't notice if the sky turned green and pigs were flying--much less a pedestrian trying to cross the road. I'd feel safer in a car driven by someone who drank a 6 pack of beer than in a car driven by a parent ravaged by grief--it is that debilitating. For those of you out there who don't understand this comparison, I am happy for you and hope you never do. For those of you reading this blog who do understand this comparison maybe you'll share in my guilt that I should've gotten that woman a hug and a cab.

A History of Bertrand

A long overdue summary of the life and times of Bertrand Thomas Might. Much like the man himself, this is a work in progress. :)

Conceived four years into marriage while his mother and father were finishing stressful graduate degrees, the pregnancy with Bertrand was surprisingly smooth. Being cautious, his parents opted for all the additional testing available to healthy, unrelated, 20-somethings, including the first trimester screen and a third trimester ultrasound. His mother gained 28 pounds. Bertrand was the textbook fetus--he measured exactly 50th percentile every time and constant hiccups early in utero indicated healthy lungs.

Bertrand was born via vaginal delivery on December 9, 2007. His due date was December 10th, so he was fashionably early. Bertrand’s third trimester ultrasound indicated that he would be born weighing about 8.5 pounds and 20 inches long. His parents were shocked that he weighed 5 pounds 12 ounces instead. Bertrand’s height was 19.5 inches. The first two days went relatively well, but due to hemorrhaging on the part of his mother and jaundice on his, Bertrand entered the neonatal intensive care unit for two additional days.

The first two weeks at home with Bertrand were paradise, but that paradise crumbled as Bertrand began to deviate from the norm. He began to suffer from around the clock “colic”, he would never spit up, he didn’t cry tears, his teeth started coming in at about two months. Bertrand’s moro (startle) reflex was impossible to trigger intentionally, but he would startle with no observable cause. And then there were the infant tremors that, while assured to be normal by medical professionals, were increasing in frequency. Finally, at his 6-month well-baby check-up, Bertrand’s pediatrician recommended that he see a developmental specialist.

Because of the family’s July 2008 move to Salt Lake City, a mess with referrals and problems with medical system in general, Bertrand’s developmental specialist appointment didn’t happen until Bertrand was 8.5 months old. In August 2008, Bertrand was tentatively diagnosed with “movement disorder”, hence the name of this blog. This “diagnosis” was more to fill in the blank on intake papers than an accurate description of his condition. It was also at about this time that Bertrand started losing what few milestones he’d accomplished and what few skills he’d attained, such as the use of his hands and rolling over. No one could harbor the hope that Bertrand was somehow still normal, or worse--that something was not terribly, horribly wrong. After that very first appointment with the developmental pediatrician Bertrand’s medical odyssey commenced.

Bertrand had over 10 tentative diagnoses in the year after that. Only the first few were non-fatal. The rest were all neurodegenerative and terminal. Each time a diagnosis was ruled out, the next one was hanging over Bertrand like the sword of Damocles--until the doctors ran out of deadly diseases with which to label him. Bertrand has flummoxed the medical establishment. While uncertainty still hangs over his head, so does HOPE. His medical team has switched from hunting for a diagnosis to treating what symptoms they can. They have started with Bertrand’s epilepsy, with autism to follow.

Family medical leave granted

I've been granted family medical leave for next Spring, so that I can be the father and the husband I need to be while we see Bertrand through the critical first six months of the ketogenic diet.

I resisted applying for leave as long as I could, because there was a part of me that clung to the hope that a diagnosis and an instant cure would somehow materialize for Bertrand. I do have hope that the ketogenic diet is going to make a big difference for Bertrand, but it's clear it's not going to happen overnight. It's going to take months of measurements, calculations and patience to see its full effect.

We also need to push Bertrand harder than ever in therapy to make sure he gets the most out of his emerging abilities. Cristina is an amazing mother, but she's been sacrificing her own health and welfare for Bertrand, so I need to step in and provide that push. Now that I have leave, I can.

I feel very lucky to work at the University of Utah. My colleagues (and their families), the department and the administration have offered unflinching support to me and my family throughout Bertrand's ordeal. To every one of you reading this blog, THANK YOU!

Video of Bertrand on week 3 of the ketogenic diet

If I could pick one phrase to describe today, it would probably be "face palm". The sad part is that so many things went right today! But, as my dad always says, "I can only be as happy as my most unhappy daughter"--or, as in my case, son. Well, the video (just for you Elizabeth!) can speak for itself, or you can read the good, the bad and the troubleshooting below.

THE GOOD

• Bertrand had much better fluid intake today!
• I found the CARBmaster yogurt for him at a grocery store!
• Bertrand did two 1 hour stander sessions for 2 hours total! A first!
  
• In the stander he was in proper position, resting on his forearms!
• Bertrand was in a very sweet, happy mood all day. :)
  
• People remarked at how well he was tracking!
  
• And, he looked, smiled and interacted with them for the first time!

THE BAD

• He had his first drop (atonic seizure) in over a week.
• He had at least 12 startles (myoclonic seizures)--3X more than yesterday.
• He still didn't completely fulfill his fluid requirement.

TROUBLESHOOTING

• While this could've just been a bad day, I doubt it.
• We added TWO new things today: Vitamin D and grape Powerade Zero.
• His seizures started after the D-laced breakfast, well before the Powerade.
• But, to be on the safe side, we'll be removing both tomorrow.
• If that helps, then I'll try slowly adding back the Vitamin D first.
  
• But, if that doesn't help, we'll remove the carnatine supplement again.
• We'll work from there.
  

A Bad High School Chemistry Problem

This is a recent post from a ketogenic diet support group mailing list. I wonder who could've written it?

My son is only 23 months-old. He is at the 50th percentile for weight (12.5kg) and about the 40th for height (33.5in). We started the diet at 3:1 ratio, a little over 2 weeks ago. The dietitian refused to give me her calculations (personality clash), but he supposed to have 4 meals of 40.7g KetoCal 3:1, or 162.8g KetoCal (1137 Calories) per day.

Based on the past two weeks and my prior calculations, I think this is too high. Using "The Ketogenic Diet" book, my calculations for fluids matched the dietitian's at 1150 ml per day. However, I got a RDA of 1125 Calories (160.9g KetoCal per day)--85% of that RDA would be 995 Calories (136.6g KetoCal per day).

My son is struggling to drink his 1150ml of fluids, I think, because he is too full. He likes the KetoCal, so that isn't the problem. (Before the KD he hated juice, water or anything not milk.) His average fluid intake has been 856.9ml per day. Therefore, this puts his KetoCal intake at 137.1g per day or 85.2% of the RDA I calculated.

If those Calories seem fine according to the Johns Hopkins book, why am I bothering you? Because his dietitian has said she will lower his ketogenic ratio from 3:1 to 2.5:1 if he is not getting the fluids in! BUT WE ARE SEEING RESULTS AT 3:1! From over 30 drops per day down to no drops the past week! And only 4 myoclonus today, with far less absences and partial complex seizures! If anything, the ratio goes up!

Furthermore, his glucose, etc. are fine. His CO2 was a bit off, indicating some mild dehydration, and I am worried about that. Should I test diluting the KetoCal further, doing the fewer Calories (which he has been doing anyway)? I am tired of fighting with my son, especially when I think he is right.

None of this would be an issue if we could have an open dialogue with our dietitian. But, our dietitian dislikes us, her job, or something. We even heard the nurses talking about what "a bitch" the dietitian was being to us (or possibly in general). I think she may have threatened lowering the ratio just to keep me from emailing her. I've only emailed her 3 times in 2 months--not excessive!

*Sigh.* Nobody claimed the ketogenic diet would be easy. :)

Back home and sick--but happy.

We really enjoyed visiting family in Kentucky, but it still feels great to be back at home. This quick post will be a shotgun one--full of bullets. (Thanks, Fawn!)

• Bertrand has been sick for the past two weeks. He is still congested, but getting better.
• The KD was working and he had started using his hands enough to pick up germs. ;)
  
• Today he was back to resembling KD day 3. Just 5 startles today. No drops in ~a week.
• He had roseola, a virus which results in fever, hives and SURPRISE convulsions. :-P
  
• Bertrand lost 0.6 pounds since last Tuesday due to the sickness and lack of appetite.
• He is now sleeping a lot: 2 hours in the AM, 3.5 hours in the PM. Carnatine may help.
• We'll be restarting the carnatine supplement tomorrow since it didn't cause the hives.
• B is due for blood work this week, but I am afraid it'll still show signs of dehydration.
• We're struggling to meet the requirement of 1150 mL of fluid because B doesn't drink.
• The ketogenic diet, for Bertrand, is going to take 6-12 months to see full effect.
• Matthew is putting in for family leave to help achieve full results sooner rather later.
• If B can achieve seizure control, there is a small chance B can attain normal intelligence!
• Holiday decor, birthday party, sub for santa, are on hold because now I am sick!

Bertrand in hives

We woke up this morning to find Bertrand covered in hives:



The iPhone camera doesn't do the red splotches justice. They don't appear to itch him or bother him, but we're monitoring closely.

We think the culprit is the carnitine supplement, so if the hives continue, we can adjust that or ramp it up slowly.

On the other hand, Bertrand had his first restful night's sleep in a while, and his cold appears to finally be on the mend.

A Rough Patch

Not unexpectedly, we hit a rough patch with Bertrand's ketogenic diet. With Bertrand, things are never smooth and easy. I think that's why we were shocked to see such fast results on the first 4 days of the diet! There is no new video today becuase Bertrand is depressingly back to old form. From day 5 of the ketogenic diet onward, it has been a comedy of errors.

• His ketones fell to moderate due to a faulty batch of eggnog, ergo seizing.
• Overcompensation led to large ketones and some symptoms of excess ketosis.
• We gave him apple juice (2ml) to prevent him slipping into coma.
• Turns out, he had a cold and the juice threw his ketones back down.
• More seizing and now a sick baby. Sigh. We meant well. :(
  

We're working our way back up to moderate/large ketones. But Bertrand isn't feeling well (and we'll be on a plane tomorrow) so we are more concerned with getting the fluids and medicine in him. Oh! And, FYI, now Bertrand doesn't like KetoCal but prefers the eggnog (without sweetener or vanilla). Considering that we bought 4 cases of the KetoCal, this is inconvinient. We've resorted to a half eggnog, half KetoCal concoction. He drinks it with gusto.

P.S. - Fawn and Elizabeth, I consider myself lucky to have such thoughtful & knowledgable keto-mentors! Thank you. :)

P.P.S. - Several of Bertrand's labs came back abnormal: CO2 13, normal range 18-24; Anion Gap 21, normal range 3-16; ALP (alkaline phosphatase) 379, normal range 145-320. Since I haven't heard back from Bertrand's keto team, I assume that these are standard keto-kid deviations.

P.P.P.S. - We'll be leaving tomorrow to visit family in Kentucky, so blog posting may become patchy. But, we are grateful for such wonderful friends as you. You will all be in our minds and hearts over the holday season! :) Happy thanksgiving!!!

Video of Bertrand on the 5th day of the ketogenic diet

Bertrand being seize-y at his best friend's fun birthday party today. :(

I was torn on whether I should post this video, or anything for that matter, today. Not even a week into the ketogenic diet and we already experienced a keto slip-up. Unfortunately, this means Bertrand had his first atonic (two of them--we call them "drops") seizures since starting the diet today. He also had countless myoclonus (we call them "startles" because his head, arms and legs all jerk at the same time)--he'd had 20 by 9am.

This experience was valuable to us for several reasons. It emphasized:

• The importance of vigilance when your child is on the ketogenic diet.
• The extreme effect even the smallest amount of carbohydrate can make.
• The delay in urine ketone readings versus actual blood ketone levels.
  
• And, more positively, the fact that the ketogenic diet is working for Bertrand!

What happened? Yesterday, we found out that Nutricia botched the shipping of our KetoCal order, so in the evening we switched to mad-dash, homemade keto eggnog. Everything seemed to be fine. Then this morning Bertrand was pretty much back to his old self: seizing and irritable. His ketone strip showed moderate to large ketones. After a breakfast of eggnog, he had the first drop since starting the diet and about 20 startles. We knew something was wrong!

The only new thing we had introduced was the eggnog. A fresh ketone check confirmed that his ketones were down to moderate. We were able to isolate the stevia liquid sweetener and the pure vanilla extract as the likely culprits, and sure enough, the "pure" vanilla extract was not so pure. It contained sugar and alcohol. (I won't be using the stevia either though!) I'd been planning to buy a set of keto-safe Bickford Flavors for Bertrand when I began to prepare meals other than KetoCal for him, but I hadn't planned on that being so soon!

Even though this video doesn't show an improvement in Bertrand, I feel that it is important. There are so many stories out there of seemingly overnight recoveries on the ketogenic diet, when the reality is probably far closer to the troubleshooting session we just experienced. I have every confidence that Bertrand will be back on the keto-wagon by tomorrow and we are better parents for this today. So, without further ado, here is the video of Bertrand recovering ketosis.

Video of Bertrand on the 4th day of the ketogenic diet

For me, today was a series of malfunctions back-to-back. It started with an error from Nutricia, the company which makes KetoCal, with the shipping of our KetoCal. Nutricia made up for it by expedite shipping (for free) 6 cans, due to arrive Monday. Of course, I still just about had a heart attack. I ordered (and expedite shipped) his Phlexy Vits, to make the keto eggnog his main source of nutrition. And then I spent the rest of the day scrambling all over town searching for the ingredients for keto eggnog and keto yogurt with limited success.

(Our Albertson's grocery store was apparently bought out exactly two weeks ago and as of last week no longer carries Bertrand's Dannon Lite and Fit Carb Control Yogurt--the Albertsons were the only stores in Utah which carried it! So we are back to the drawing board for Bertrand's yogurt. I'll figure it out.)

But, in spite of all the inconvinence, today was a great day! Bertrand LOVED the keto eggnog! And, he had only three startles today, continuing the downward trend. Still no drop seizures. :) His movements, attention and abilities all continue to improve. He can now, if placed, hold himself steady and standing next to the couch! Paula Peterson called to have Bertrand brought back to Primary Children's on Monday for more bloodwork and to take a quick look at him before we leave town. I am certain she will be happy with B's progress as well. :)

Hypoglycemia and Ketoacidosis

Since enough people have asked, here are the explanation and symptoms of hypoglycemia and ketoacidosis, possible side-effects of going on the ketogenic diet as taken from the Charlie Foundation's pamphlet Ketogenic Diet Parents' Guide.

Hypoglycemia
Hypoglycemia is when your child's blood sugar drops to a very low level. The symptoms your child may have include:

• Pale Skin
• Sweaty forehead
• Rapid pulse
• Dizziness
• Sick stomach (nausea)
• Extreme sleepiness

Treatment: Give your child 15mL of apple juice. The above symptoms should improve within minutes. Call your ketogenic team if symptoms persist.

Excess Ketosis (Ketoacidosis)
Excess ketosis is when your child's body is making too many ketones. The ketone urine test strips will change rapidly to the highest color for ketones (large). The symptoms your child may have include:

• Facial flushing
• Rapid, shallow breathing
• Vomiting
• Sick stomach (nausea)
• Extreme sleepiness

Treatment: Give your child 30mL of apple juice. If the symptoms persist after 20 minutes, give your child another 30mL of apple juice, then call your pediatrician. If you are unable to reach your doctor, take your child to the emergency room. An intravenous drip may be needed to correct the excessive ketosis.

Report of 3rd day on the ketogenic diet

Unfortunately, I didn't take a video tonight. By the time I had a free moment to give Bertrand his bath, he was sound asleep. He got his diaper changed, ketones checked and pjs on, all without waking up. Bertrand looked like such a little angel, I couldn't resist snapping a few photos with my new 50mm lens. So, tonight you get the photos instead. :)


There is clearly a change happening in Bertrand. For the third day in a row, he had no drop seizures, and he had only 5 startles--further down from the day before. The absence and complex partial seizures are still a little too many to count, but I can tell that they are far less frequent.

But numbers are just numbers. Bertrand is inspecting our home as if it is the first time he has ever seen it! His movements have lost so much of their prior jerkiness that I am frequently checking to see if he is having an absence, just in case. He is calm and agreeable! These changes have already made the ketogenic diet worth it, even if he is never seizure free.

According to Eliza, B's dietitian, it turns out that the sleepiness Bertrand is experiencing may simply be the result of his body adjusting to the use of ketones over glucose. It is commonly reported by parents for the first few weeks after their child starts the diet. As long as Bertrand is not experiencing any of the other symptoms which accompany either hypoglycemia or ketoacidosis, we don't have to worry.

Oh, and while Bertrand's ketones are still between moderate and large, he is finally putting off the "ketone smell". It is a slightly sweet scent, but I don't think it smells like pineapple (the most common comparison). So his body chemistry is definitely changing!

P.S. - The following two pictures are blurry (I want a different flash) but I couldn't resist posting them! His serious face is adorable and the way he gets so excited watching an Elmo DVD in his stander is funny!

Video of Bertrand on the 2nd day of the ketogenic diet

It has been a long day of continued success on the ketogenic diet! Bertrand is still drop-free and his startles (myoclonus) are down to a handful! The morning got off to a rough start with the first at-home keto meal preparation and then with the realization that my keys were back at the hospital. Once we overcame those little setbacks, Bertrand and I crisscrossed town in search of his supplements and better keto-cooking implements. We unmasked our mysterious benefactor and are brainstorming for ways to thank her. Our friends, Shannon, Alex and Sasha came over to help prepare tomorrow's ketomeals and have a celebratory dinner (pizza) party! And, lastly, for proof that my son does in fact wear clothes, here is the video we just took for day 2 on the ketogenic diet. Enjoy!

Video of Bertrand on the 1st day of the ketogenic diet

Even though I am utterly exhausted, I had to post the video I took of Bertrand tonight. I'll be taking a brief video at the same time (after dinner, keppra and bath) so y'all can track Bertrand's status along with us. :) I consider this a video of Bertrand's 1st full day on the ketogenic diet because every snack and meal he had today was calculated along the 3:1 (fat to carb) ratio.

I believe it is too early to claim victory, but I am very much encouraged by Bertrand's behavior and number of seizures today. Yesterday, I counted startles and drops in the evening. B's startles took up pages and he had 5 drop seizures in about as many hours. Today Bertrand has not had a single drop seizure! And, the fact that I will be able to START counting his other seizures (absence, complex partial and startles/myoclonus) is a testament to how much they've reduced.

I really hope that this is all a result of the diet and not just one freak, amazing, seizure-reduced day. Take a look at his new video and let us know if you see any difference! :)

A mysterious benefactor

A huge surprise awaited us when we returned home today.

After the snow storm last week, our giant elm dumped all of its leaves, leaving the street, our front lawn and our neighbors' lawns about 3 inches deep with leaves.

When we returned today, the leaves were gone, bundled into about 20 garbage bags, and ready for pick-up across the street! That must have been hours of hard labor.

We are deeply touched and grateful! Please step forward so we can THANK YOU!

Home!

Bertrand has been discharged, and is now comfortably asleep in his own bed!

Bertrand will continue the initiation phase of the therapy for the next week, which requires us to monitor him 24-7 for signs of hypoglycemia and excess ketosis. We have everything we need to continue the initiation from home--ketocal 3:1, ketone level testers, scales, syringes, ongoing and emergency keto-proof medications and, most importantly, lots of information. If anything happens, we're 3 minutes from the hospital, so Bertrand will be very safe here.

We'll also be hitting the stores for the next few days to scavenge the supplies we need for long-term keto treatment, including walnut/coconut oil, pipettes, graduated cylinders, mixers, supplements, keto yogurt and heaters.

Cristina and I feel very encouraged by the dream we saw today. On his 24 hour EEG, he had so many seizures while asleep that he never had a dream sequence. It's been about nine months since we last saw him dream. So far, he's not had a single drop seizure, and his absence seizures seem shorter. Time will tell if this is just statistical noise or if we've actually found something that will help him, but for the first time in a very long time, we have real hope.

The Fighter

Bertrand is nearing the end of a long day. So far, he's had five blood draws (only four successful) and many seizures. He's not sold on his new food yet either, but he eats it when he's starved.

His labs just came back stable, so we can continue with the diet for tonight!

We're getting ready for his final ketocal, a 3:1, and a non-sugar tablet of Keppra. Then, he can finally get some rest.


Our little champ is still standing.

Video of Bertrand before the ketogenic diet

Here is a video (per Karen's request) which I took of Bertrand after his bath tonight. If you watch the full 3 minute video, you'll see why we're so anxious for the ketogenic diet to work. We love our little guy and hope you like the video. :)



PS--Bertrand got a twitter account. (Yes, I know, we've joined the dark-side.) If anyone besides my mom is interested in following along to the second, his twitter account is bertrandmight. Or you can just check out the new twitter feed on the upper-right-hand side of the blog.

November is Epilepsy Awareness Month

November is epilepsy awareness month, a fact of which I was completely unaware until one of Bertrand's symptoms turned out to be multifocal epilepsy. (An oddly appropriate month to start the ketogenic diet, don't you think?) November's challenge is to "Talk About It!" According to the Epilepsy Foundation, epilepsy is often suffered in silence. I didn't know what that meant until we started writing about Bertrand's epilepsy and dozens of supportive people came out of the woodwork to talk about how they or a loved one also has epilepsy. So, while next year I'll be wearing purple and fundraising, for this year, I'll "Talk About It!" Here are some epilepsy tidbits I was shocked to learn:

• Epilepsy is defined as repeated seizures, which happen at any point in a person’s lifetime due to an inherited condition, an illness or a brain injury of any kind--it is not contagious.
• Each year, some 50,000 Americans die from seizures and related causes, triggering more deaths annually than breast cancer.
• Three million Americans suffer from epilepsy--it is the third most common neurological disorder in the US after Alzheimer's (dementia) and stroke.
• While approaching an incidence of 2 percent of the population in general, the incidence of epilepsy in infants and kids is somewhere between 5 to 7 percent.
• More people have epilepsy than cerebral palsy, multiple sclerosis and Parkinson's disease combined.
• Epilepsy gets much less funding than stroke or dementia, and even less funding than Parkinson’s disease, which affects less than a quarter of the number of people who are affected with epilepsy.
• The high rate of head injuries in soldiers who have served in Iraq portends a wave of epilepsy equal to or worse than the one which occurred as a result of the Vietnam war.

These boots were made for walkin'!

...and shoes, making a total of four pairs purchased yesterday, including a not-pictured pair of teeny brown loafers that he can wear right now. As you can see, I went a little shoe-crazy at the Park City Outlets! Granted, Bertrand doesn't walk yet, but with the colder weather they'll keep his little feet warm. And, I really want the shoes on hand in case the ketogenic diet works! If positive thinking really does have an effect on anything, with the amount I am radiating, Bertrand will be walking by 2010!



A lot of my optimism stems from the other night when I sat up in bed and suddenly remembered Bertrand's big step-function improvement back in February 2009, detailed in this post. At the time we wondered if the switch to whole milk may have contributed to his sudden social development. Looking back, knowing what I know now, attributing that development to the increase in fat and decrease in carbohydrate in whole milk (relative to the prior rice cereal and baby formula) isn't that far fetched!

This morning I braved the falling snow to attend the Epilepsy Association of Utah Educational Conference 2009. I am glad that I went. There were a variety of topics touched on at a very high level, and while a lot did not apply to Bertrand, I now have new contacts and resources to follow-up with. One such important resource is the Utah Parent Center, an organization dedicated to championing parents of children with disabilities by giving them the tools to be better advocates for their children. While unfortunately there wasn't much time dedicated for networking, I was lucky enough to meet up with fellow blogger Cari, who I'd met last August!

We've already had a fantastic weekend and it is only Saturday afternoon! Bertrand keeps asking to be put in his stander to watch Elmo, so he has been getting well over an hour of stander time everyday! (This is essential for strong and proper bone formation.) My new crock-pot is proving to be an amazing new toy, and right now, I'm going to finish packing for Bertrand's week-long hospital stay, so I'll have all tomorrow to double and triple check everything. Can you tell I am a happy mama? :)

Neuroprotective and disease-modifying effects of the ketogenic diet.

Behav Pharmacol. 2006 Sep;17(5-6):431-9.
Gasior M, Rogawski MA, Hartman AL.
Epilepsy Research Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland 20892-3702, USA. gasiorm@ninds.nih.gov

ABSTRACT:

The ketogenic diet has been in clinical use for over 80 years, primarily for the symptomatic treatment of epilepsy. A recent clinical study has raised the possibility that exposure to the ketogenic diet may confer long-lasting therapeutic benefits for patients with epilepsy. Moreover, there is evidence from uncontrolled clinical trials and studies in animal models that the ketogenic diet can provide symptomatic and disease-modifying activity in a broad range of neurodegenerative disorders including Alzheimer's disease and Parkinson's disease, and may also be protective in traumatic brain injury and stroke. These observations are supported by studies in animal models and isolated cells that show that ketone bodies, especially beta-hydroxybutyrate, confer neuroprotection against diverse types of cellular injury. This review summarizes the experimental, epidemiological and clinical evidence indicating that the ketogenic diet could have beneficial effects in a broad range of brain disorders characterized by the death of neurons. Although the mechanisms are not yet well defined, it is plausible that neuroprotection results from enhanced neuronal energy reserves, which improve the ability of neurons to resist metabolic challenges, and possibly through other actions including antioxidant and anti-inflammatory effects. As the underlying mechanisms become better understood, it will be possible to develop alternative strategies that produce similar or even improved therapeutic effects without the need for exposure to an unpalatable and unhealthy, high-fat diet.

The Miracle of "Pat the Bunny"

BERTRAND PAT THE BUNNY!!!

This was more than a casual brush of the bunny or a whap of the bunny. As we were reading, I asked Bertrand to pat the bunny like I always do, but this time he reached out and, for about a minute straight, he patted, stroked, scratched and played with the bunny. He'd intermittently look up at me to smile. I was hysterical. I called for Matthew. I was smiling so big and sobbing so hard I couldn't breathe.

For those of you not in the know, since Bertrand was born, we've been reading Pat the Bunny by Dorothy Kunhardt together. Early on, Bertrand would reach out and whap the page with the bunny, but then he lost this ability at about 9 months. Pat the Bunny became a resented symbol for all that Bertrand had lost. For over one long year (14 months to be exact) he has been unable to intentionally pat the bunny... until now!

I wish we'd had the video camera out for this! Except that I was not at my most photogenic. ;) But. Bertrand. Was. Beautiful! Over the past year, how many times did I cry wishing that he could pat the bunny just one more time? And then when he finally does pat the bunny and I still cry. :) There is so much joy in my chest it feels like it will burst! We hope this is an omen of good things to come next week. :)

Therapy Fun at Shriners Hospital

Bertrand has made progress in his physical and occupational therapies at Shriners Hospital. He lights up when he sees his therapists Chris (pictured above) and Cindy. And Bertrand definitely knows which room the big swing is located in--he is always trying to get them to put him on the swing first! :) When he first started therapy at Shriners, Bertrand would barely last 5 minutes before breaking down. Now he regularly lasts 45 minutes to the full hour!

Today, it struck me how close Bertrand and I have grown with his therapists Cindy and Chris at Shriners and Kirsten and Meghan through DDI Vantage. All these women put their hearts into their work with Bertrand. We are so lucky to have them in our lives. He is more than a patient to them and I am more than some crazy parent. Going into the ketogenic diet next week, they are holding their breath with us. That means more to me than words can say. :)

Local TV again

Bertrand's daddy was on local news again, this time as a computer security "expert". Here is the video. The Star Trek table in the office really adds to Daddy's expert credibility. ;)

Facebook offers parenting tips

I guess facebook realized I've been a little busy lately, and kindly offered this parenting tip with their "Suggestions" feature:



From now on, when I feel like connecting with Bertrand, I can just write on his wall.

Beats changing diapers.

UPDATE: Apparently, Facebook takes issue with my parenting style as well. --Cristina

One More Week!

By this time next week Bertrand will have started the ketogenic diet! The few weeks we've had to prepare have been invaluable. While many parents feel scared and unprepared when their child starts the diet, I feel calm and centered because I had the time to: read all the recommended books, research all the right websites, join the appropriate newsgroups, order & watch the available videos, talk with experienced KD people, buy all the supplies, practice making keto recipes, etc. Also, I found out that the reason Bertrand couldn't start the diet sooner was because Paula Peterson FNP, who is initiating his diet, is attending the "Dietitians’ & Nurses’ Forum on Dietary Therapies for Epilepsy" this week! Amusingly enough, the forum, which is run by the Charlie Foundation, is taking place this year at the Doubletree Paradise Valley Resort in Scottsdale, Arizona--where Matthew's senior prom took place. :) I am glad that Bertrand will have the benefit of this latest and greatest knowledge on the ketogenic diet moving into his initiation! Everyone, keep your fingers crossed!

HIV-based gene therapy effective for a lysosomal disorder

Scientists in France have used a disabled HIV virus to deliver corrected genetic code into the blood of X-linked adrenoleukodystrophy patients for the first time. Gene therapy, in which a patient's DNA is modified to correct genetic defects, has long been a holy grail of medicine, but it has been difficult in practice. To make gene therapy work, you have to replace the DNA in every cell that's affected. The problem with this is that the process of modifying all those cells too quickly can easily kill the patient. One mechanism for inserting new DNA is to use a modified virus [since a virus is little more than parasitic syringe for DNA], but with that route, it's important to control the rate at which the virus spreads. This is encouraging news, because if HIV proves a safe and effective carrier for new genetic material, it could be applicable to a range of diseases hypothetically treatable with gene therapy.

Nightmares and a Negative Test Result

The past few nights Bertrand has been having nightmares. Last night was particularly bad with Bertrand just wanting to be held as he fell back asleep, not put back to bed. Because Keppra may cause nightmares and psychotic episodes in a small number of children, it could be tempting to blame the medication. However, Matthew and I would rather view the nightmares as a sign of progress!--that Bertrand is now cognizant enough to have fears and, therefore, have nightmares. :) Naturally, we will be keeping an eye on the nightmare trend just in case it is a side effect of the medication, but normal children his age have nightmares, so why shouldn't he?

Today I spoke with the amazing Kelly Schoch, Bertrand's genetic counselor at Duke University. Bertrand received a negative test result for a mutation in the AAAS gene. A mutation in the AAAS gene is responsible for 50% of the cases of clinical Allgrove syndrome. While a negative result doesn't rule out Allgrove, Matthew and I aren't interested in chasing down this rabbit hole unless Bertrand begins to exhibit at least one other hallmark symptom (such as achalasia or adrenal insufficiency) in addition to the alacrima. Dr. Stratakis, the world expert on Allgrove syndrome at the NIH, said Bertrand doesn't have Allgrove, so for now, that is fine by me.

One additional option for genetic testing which Kelly presented involves the SCN1A gene. It's crazy how these gene designations are starting to make sense to me, but of course the SCN1A involves sodium channels. (I must of read about it somewhere because it is too weird that this was my first guess.) It is associated with a large range of hereditary seizure disorders and even some hereditary migraines. Duke has a stored sample of Bertrand's DNA, so sending out for the test would technically be easy. However, given that all genetic tests are not cheap, we need to ask, what is the point in knowing this SCN1A result?

For family planning? Not really, because no one else has epilepsy in our families. Bertrand is still most likely a de novo (new) mutation, so it wouldn't be inherited by any of our other children. For treatment? Not really, because we're already implementing the ketogenic diet and treating the seizures in the same way one would in the case of a SCN1A mutation (with liver issues). For plain old knowledge? Bertrand is our son and we love him more than anything in the world--that's all the knowlege we need. No test result will change that.

A Big Boy Day

Normally, I try to limit the number of activities I subject Bertrand to on therapy days, but happily today Bertrand proved that my over-protectiveness is no longer necessary! He handled six crazy errands and then his occupational therapy at Shriners Hospital like a pro. At one point I was holding him on my hip at Ace Hardware, talking to him about paints and enamels (he wanted a yellow spray paint can but I explained to him that we needed clear enamel spray) and he was so engaged, it felt like I had a normal baby. He sat on the counter, flirted with the cashier and "helped" me check out. He was so well behaved all morning and afternoon that I thought he'd certainly fall apart at therapy. Bertrand proved me wrong! At the start of therapy he communicated he was thirsty WITH A SIGN (not a fuss!), drank, and proceeded to have a fuss free therapy session! He is now taking a well-deserved nap, and I can't help but feel so proud of my big boy. Days like today give me hope for tomorrow. :)

Review: "The Ketogenic Diet"

A few days ago I read The Ketogenic Diet: A Treatment for Children and Others with Epilepsy by John M. Freeman et al. The authors are members of the Johns Hopkins team which has developed, preserved and championed the ketogenic diet. The book is in its fourth edition and, after reading it, I can see why it is required reading for almost everyone commencing the ketogenic diet. I highly recommend it to anyone interested in learning more about this alternative, non-alternative treatment for epilepsy!

Due to decades of scientific research done on the effectiveness of the ketogenic diet, the authors stress that it is not to be viewed as “alternative” medicine. The diet IS traditional western scientific medicine. The mechanisms that grant the diet’s effectiveness are as well understood as (and even more well studied than) the mechanisms which govern modern seizure medication’s effectiveness. Sadly, by this I mean, that all epilepsy treatments remain a bit of a mystery to the scientific community.

The book is every book you’d want or need to start the ketogenic diet rolled into one. It covers the history of epilepsy and the ketogenic diet. It attempts to explain the possible biological and chemical mechanisms at work in the ketogenic diet and even the very promising, modified Atkins diet. The Calculations section is basically a workbook, which leaves one more confident about being the sanity check for your dietician. The recipes (both Ketogenic and Atkins) are excellent, and in this section and through out the book, the diet’s use in infants is heavily covered! Lastly, the book is peppered with anecdotes and examples drawn from a vast pool of humanity, which bring the content to life.

While the book is forthright on the limitations and expectations one should have regarding the ketogenic diet (I am now back to being pessimistic about Bertrand’s odds of being helped by the diet), I was heartened by a section entitled “Speculation: The Future Role of the Ketogenic Diet.” The authors hypothesize several additional uses for the ketogenic diet outside of epilepsy--the one that caught my eye was as a treatment for cancer. If I ever get cancer (brain cancer in particular) I have nothing to lose by trying this experiment!

“Brain tumors appear to feed on glucose. Indeed they “steal” glucose from the surrounding brain tissue, causing the surrounding tissue to die. Whereas normal brain tissue can use ketones such as beta-hydroxy butyric acid (BOH) as an energy source, tumor tissue does not appear to have the ability to metabolize ketones... Would it be possible to “starve” a tumor by reducing its glucose supply, while feeding the brain with ketones?”

Fascinating, huh? :)

Tracking Seizures

In order to objectively judge the efficacy of the ketogenic diet, we need to find a way to count Bertrand's seizures. This poses a BIG problem because he has several seizures (2 to 6) every minute, even in his sleep. That is close to 6,000 seizures (absence, complex partial with automatisms, drops, and startles) a DAY! (The number of XL spikes and XL events on his EEG are double to triple that, so I am glad I don't have to try and count those!)

Knowing that, is there any wonder why he is so severely developmentally delayed? He can barely follow through on his impulses or commit anything to memory! When I try to count and log all of his seizures, I literally can't do anything else. By the time I'm done checking off the kind of seizure and writing down the duration, he's already had another one and I've missed it. It is very frustrating--but imagine how much worse it must be for Bertrand. :(

Furthermore, due to the nature of his seizures you have to be staring Bertrand in the face--you can't be across the room or sitting on a chair--you have to be on his level at all times. Every eye roll, head jerk, mouthing motion, and meaningless hand movement indicates that a seizure is occurring. I'd gladly stand a 24-hour vigil for B, except that someone has to play with him, feed him, change his diaper, get his books/toys, stroll him, (not to mention, use the restroom, cook, clean, etc.). Besides, it's not fair to seemingly ignore a baby even if it is for his own good.

So, I've been searching for seizure tracking resources. There are all kinds of spreadsheets and programs. One that I thought would be particularly useful is called SeizureTracker.com. Seizure Tracker is a free online program. You can print reports out from it and there is even a mobile version that works well on my iPhone (if AT&T's EDGE network isn't acting up). Furthermore, multiple parties (such as Mom and Dad) can be logged on to the same account thereby automatically syncing the seizure log! Seizure Tracker is fantastic if you've got at least a minute or two between seizures.

Unfortunately for Bertrand, Seizure Tracker proved too cumbersome in the handling of rapid succession seizures. The online nature of the program resulted in seconds wasted waiting for the page to refresh and the inability to log seizures when there was no internet connection (damn you, EDGE!). Also, for our purposes, it was too much of a good thing. There was no option to hide unnecessary values such as "Mood" or "Possible Triggers", which while I'll agree are important, can't be filled out while the next seizure is already occurring.

Simply having a downloadable, offline app of the program which syncs with the online version (for when the network is down) would be a huge improvement. Integrating the app with the iPhone's timer or the computer's built-in clock would also aide in working with rapid fire seizures. And, while I know it asking much of a free program, the ability to hide fields such as "Mood" and "Possible Triggers" would be helpful. However, if you have a child with a more traditional seizure disorder, these aspects may not be as vital, so Seizure Tracker will work great.

So, how am I going to solve Bertrand's seizure tracking issue? I've decided to track his seizures for one hour every day and extrapolate from it. That hour will be from 2PM - 3PM. This time is exactly in the middle of both Keppra doses, so the medication level in his blood should be fairly representative. This is also after his lunch and before his snack, so it should be a good time to observe Bertrand au natural. Using shorthand I'll log his seizures in a notebook, and adjust my logging system as needed. By tracking just this one hour a day we hope to see the effects of the ketogenic diet, and if we're successful with the diet, we can graduate to using Seizure Tracker!