November 27, 2009
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.
November 23, 2009
- 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. :(
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!!!
November 21, 2009
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!
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.
November 20, 2009
(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 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
- Sick stomach (nausea)
- Extreme sleepiness
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
- Sick stomach (nausea)
- Extreme sleepiness
November 19, 2009
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!
November 18, 2009
November 17, 2009
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! :)
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!
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.
November 16, 2009
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.
November 15, 2009
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.
- 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.
November 14, 2009
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? :)
November 13, 2009
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. email@example.com
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.
November 12, 2009
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. :)
November 11, 2009
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. :)
November 10, 2009
November 9, 2009
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
November 6, 2009
November 5, 2009
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.
November 3, 2009
November 2, 2009
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? :)
November 1, 2009
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!