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.
December 31, 2009
December 29, 2009
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! :)
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! :)
December 28, 2009
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.
I hope we get some results back this week--good news--to start the new year off with! Please wish us luck tomorrow.
December 25, 2009
December 24, 2009
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.
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.
December 23, 2009
Bertrand's inner ninja
The MRI revealed the cause of Bertrand's problems--beneath his cuddly exterior, there is a miniature ninja:
December 21, 2009
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:
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.
- 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 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
December 18, 2009
Bertrand Loves to Read
December 17, 2009
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.
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.
December 16, 2009
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.
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. :)
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
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. :)
December 14, 2009
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. :)
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. :)
And now, because I couldn't resist, here is another graph for Bertrand's one-month ketogenic diet check-up later this afternoon. :)
December 13, 2009
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.
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.
December 12, 2009
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!
December 11, 2009
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:
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.
December 10, 2009
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:
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!
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).
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!
December 9, 2009
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.
December 8, 2009
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! :)
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! :)
December 7, 2009
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.
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.
December 5, 2009
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.
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.
December 4, 2009
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!
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!
December 3, 2009
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!
- 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.
- 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.
December 2, 2009
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. :)
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. :)
December 1, 2009
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!
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