School, sleep apnea and more

For those who missed it on Twitter: Bertrand watching an Elmo video on an iPhone.
Our first easy meal at a restaurant!

Tomorrow begins my carefully orchestrated week of daily visits to Carmen B. Pingree with each of Bertrand's therapists. Bertrand's therapists will be training the staff at CBP on his quirks, strengths, and how to integrate what they've been working on with him into his lessons at CBP. The staff-to-student ratio at CBP is 2:1, but Bertrand will be getting his very own 1:1 aide. To prevent him from becoming overly dependant on an individual, everyone has to be trained so they can rotate through with him. Bertrand starts school on February 8th.

Bertrand's sleep study results came back this past week. I've been more bummed about them than I really should be. I guess I'd convinced myself that sleep was one area in which he excelled. Turns out that Bertrand has 3.9 apnic episodes per hour. Kids under age 10 are suposed to have less than 1. He barely enters REM sleep, which is an important sleep state for memory and learning. He also has restless leg syndrome. In my opinion, this is all seizure related. I don't see the point in removing his tonsils. Control of the seizures will improve his sleep quality. That is what I am telling myself. We'll do another study in a year.

Iron deficiency can be one of the causes of restless leg syndrome, since iron is essential for dopamine transmission. We'll be testing Bertrand's iron levels, along with vitamin D, selenium, usual metabolic and liver functions, as well as the genetic test: SCN1A. SCN1A is the gene associated with over 80% of the cases of Dravet's Syndrome, also known as Severe Myoclonic Epilepsy of Infancy (SMEI). Let's hope this is another genetic test that comes back negative, but if it comes back positive this would open the possibility of using an orphan drug like stiripentol.

On the keto front, I'll be picking up Bertrand's fancy-schmancy compounded keppra Rx (400mg twice a day) from University Pharmacy tomorrow! It is being made with stevia and the taste of vanilla (mint, chocolate and marshmellow were the other non-carb options). Also, we've gotten the green light to up Bertrand's ratio to 3.5:1!--a 50/50 mix of KetoCal 3:1 and KetoVolve 4:1. We need to wait another week before shifting ratio to ensure we've seen all we are going to from the keppra increase. Then we have to wait more time before adding the branched chain amino acids! Yes, we got the yellow light for the BCAAs! Our dietitian is currently researching what the appropriate therapeutic dose for Bertrand would be.

Getting Ready for Rare Disease Day 2010

World Rare Disease Day 2010 will be held on February 28. Please join the Global Genes Project to help raise awareness for Rare Diseases of all types by wearing denim on Feb. 28. Please help me with brainstorming and planning an initiative to raise awareness and maybe some money for a Rare Disease charity!

According to the National Institutes of Health (NIH), 1 in 10 Americans suffers from a Rare Disease — that’s 30 Million people in the US alone! Collectively, Rare Disease is not so Rare! Join our campaign to help raise awareness by downloading your jean ribbon today and spreading the word!

Here are some facts on Rare Disease that you may not know:

• A Rare Disease is life-threatening or chronically debilitating disease which is of such low prevalence that special combined efforts are needed to address them, such as Myoclonic-Astatic Epilepsy (Doose Syndrome) and Gaucher’s Disease.
• Approximately 7000 different Rare Diseases exist, with countless awaiting researchers to identify. Bertrand can't wait for a researcher to identify with him. ;)
  
• Today, Rare Diseases are not being invested in by pharmaceutical companies because of small patient populations and lack of financial incentives to Pharmaceutical and Biotech companies.
• Pharmaceutical companies have only developed treatments for 200 of the 7000 rare diseases.
• Approximately 75% of Rare Diseases affect children (22.5 million in the US).
• 50% of the identified Rare Diseases have no foundations, support groups or community support for the families

Let’s never give up Hope! It’s In our Genes!

Video produced by Chris Hempel, mom to twin girls affected with the rare disease Niemann-Pick Type C.

Can You "Fine-Tune" the Ketogenic Diet?

This article by Eric Kossoff MD from the September 2009 edition of Keto News, published on Epilepsy.com, is the reason why I just bought Bertrand 12oz. of branched chain amino acid powder. That and I am amused to no end that most keto supplements are also used for body building.

Perhaps nothing is more upsetting to parents or frustrating for neurologists and dietitians than a child who is doing spectacularly well on the ketogenic diet, and then begins to lose seizure control. There may be a simple answer, such as a carbohydrate “indiscretion”, febrile illness, or skipped dose of anticonvulsant medication. However, many times there are no clues as to why a particular child is having increased seizures.

In order to improve seizure control, many neurologists and dietitians will then attempt to "fine-tune" the ketogenic diet. With a therapy as complex as the ketogenic diet, there are so many potential changes that can be made that it seems logical to try. Certainly, most parents are strongly in favor of making a change in the diet versus adding or increasing the dose of anticonvulsants. Being as the ketogenic diet may have been the most successful therapy for these children, there is a natural tendency to try and adjust it first, compared to medications.

What are these dietary changes? The most common adjustment is calories. One common myth regarding the ketogenic diet is that significant weight gain can lead to loss of seizure control. In 2007, Dr. Hamdy reported in Journal of Child Neurology that changing the diet to achieve an ideal body mass index (BMI) did not lead to better seizure control. Another adjustment is to the ketogenic ratio (fat: carbohydrates and protein combined). Usually neurologists will increase the ratio (e.g. from 3:1 to 4:1) to achieve higher ketosis and seizure control. Does it help? In a study by Dr. Seo and colleagues published in Epilepsia also in 2007, investigators increased the ratio from 3:1 to 4:1 in children who were not seizure-free after 3 months. 9 (75%) of 12 had further improvement in seizures, however, none became seizure-free with the change. Of course, for an individual child these changes may be very important: always consult with your neurologist and dietitian if you are considering these changes and do not consider this research to imply there is no possibility of a seizure-free outcome by a ratio or calorie change. Lastly, I have had some anecdotally good experience at times in my patients lowering the ketogenic ratio, switching to the modified Atkins diet, fasting for 12-24 hours and then restarting the diet, and eliminating all higher glycemic carbohydrates.

What else can be done? My personal suspicion is that the better choice is to add a supplement (or anticonvulsant) to the ketogenic diet in order to achieve better efficacy, rather than trying to change the diet itself. Previously described supplements include medium chain triglyceride (MCT) oil and carnitine, although there is no published evidence for their use in this manner. As there is suggestion that zonisamide may be helpful when used in combination with the ketogenic diet, as well as vagus nerve stimulation (VNS), these therapies could also be added. In an article just published last month in the Journal of Child Neurology, Dr. Evangeliou and his colleagues from Greece have another interesting suggestion. They reported results from providing a powder of up to 20 grams of branched-chain amino acids to 17 children receiving a 4:1 ketogenic diet who were not seizure-free. These branched-chain amino acids (leucine, isoleucine, and valine) were in sufficient quantities to lower the ratio to 2.5:1 (which might theoretically reduce ketosis and seizure control). The opposite happened: 3 became seizure-free and an additional 5 had a 50-90% reduction in seizures without loss of ketosis. Unfortunately, no child with a less than 50% reduction in seizures improved with this supplement, only those who had some level of prior seizure control. Although obviously a small study, it raises a provocative question as to whether these amino acids may have independent effects on seizure control outside of the diet or is it a combination effect.

In conclusion, researchers are actively looking for ways in which we can help those children who initially respond to the ketogenic diet, but then later lose seizure control. Fine tuning the diet has gone from personal experience to scientific evidence. No family wants to give up on the ketogenic diet after making the time investment in starting it, but this is especially true for the family in whom seizure control was previously present and wonderful. This research confirms my belief that improvement may come more frequently in a pill or additional food substance, rather than by changing the foods the child is already eating.

REFERENCES

• Evangeliou A, Spilioti M, Doulioglou V, et al. Branched Chain Amino Acids as Adjunctive Therapy to Ketogenic Diet in Epilepsy: Pilot Study and Hypothesis. J Child Neurol 2009 Aug 17 (Epub Online Early).
• Hamdy RF, Turner Z, Pyzik PL, et al. Lack of influence of body mass index on the efficacy of the ketogenic diet. J Child Neurol 2007;22:1167-1171.
• Seo JH, Lee YM, Lee JS, et al. Efficacy and tolerability of the ketogenic diet according to lipid:nonlipid ratios--comparison of 3:1 with 4:1 diet. Epilepsia. 2007;48:801-805.

Bertrand laughs.

On January 22nd, 2010, there was a momentous occurrence at the Might household: Bertrand laughed for the first time. The 25 months of waiting were long but worth it. I am not biased at all when I say Bertrand's laugh is the most magical sound in the universe. Of course, until Daddy could witness, it couldn't really have happened as it is a sound that we'd stopped hoping for long ago. So, without further ado, here is the proof as captured tonight by Daddy. :)



Do you remember how Bertrand used to look like THIS before starting the ketogenic diet? It only took 10 weeks on the diet to go from staring little lump to laughter and preliminary language. Bertrand is only on a 3:1 ratio on the diet. We hope that by increasing his ratio (to 3.5 or 4:1) within the next month, we will increase his results!

Time heals...

Tonight Bertrand was acting like a silly goose while I was changing his diaper. He kept smiling, hooting and cooing at me. He was having such a great time, and wanted to go, go, go! He kept rolling away when I'd try to strap on the diaper! Haha! Adorable! At one point he was smiling while shaking his little naked fanny at me--taunting me for my lack of diapering speed--and I realized I couldn't see or find his skin biopsy scar.

Wow! That angry purple mark is from a year ago is almost completely gone. If there weren't skin cells of his still banked at the ARUP lab you'd never know he'd had a biopsy. Bertrand's neurologist mentioned that one of the next steps would be a muscle biopsy. My knee jerk reaction was to avoid it at all costs, but in reality it'll be nothing compared to what he has already been through. And, less than a year after the biopsy, there won't even be a scar.

Back to that crazy little baby: Bertrand was so amused by the new game/trick he was playing on his me! He kept pseudo giggling. Maybe he just loved that he'd figured out how to make me laugh. :) Miraculously, I escaped unannointed by his Highness' tinkle spray and managed to finally get that diaper on! This is the parenting I'd sign up for any day! :)

Neurology Follow-up

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

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

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

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

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

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

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

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

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

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

We're alive

Just a quick post to say we're alive. I've been very sick the past few weeks and now Bertrand is sick. This is compounded by Matthew's week long absence--he's at a conference in Madrid, Spain. My resulting energy is so low, even checking my email is an effort!

Bertrand's cold made him hypoglycemic today. He was very pale, nauseated and his ketones were off the charts. Over the course of the day I gave him about 10 ml apple juice. His ketones are still very large (160), but his color is better and his nausea seems gone.

B needs to feel better tomorrow because he has a follow-up with his neurologist. We'll be discussing Bertrand's MRI, EEG, sleep study, medications, etc. There is a list of questions which Matthew and I prepared before he left. I'll try to scrape some energy together to post tomorrow.

Bertrand had another "seizure-free" day (yay!), but most days he has one or two--myoclonic or tonic. Still, usually in the morning during breakfast or when he is tired at night. Even the tonics, they're not too bad and they seem shorter (2 seconds as opposed to 5).

The Pingree Center called and his first day of school will be February 8th. They're excited to be getting my adorable little man! He'll have his very own one-on-one teacher/therapist each day. Even feeling under the weather he is such a funny little guy! Physically, there is not much advancement, but cognitively I feel like he is understanding me more everyday. I think the 3 hours of "school" once a week will do him a lot of good!

Oh! And, hallelujah, he is finally willing to watch a different Elmo video! My sanity is saved. :)

Our First Guest Post!

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

The beautiful Miss Ava.

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

Bertrand goes to the dentist

Cristina is sick with some nasty bug I gave her, so I stayed home this morning to help out with Bertrand's second dental visit. (Without family medical leave, I wouldn't have been able to help out.) The short version is: Bertrand's teeth are in better shape than expected! Many children with conditions like his are virtually impossible to manage when it comes to dental hygiene. It's pretty hard on the two of us to brush Bertrand's teeth because Bertrand screams like he's being tortured every time we do it. But, we haven't given up yet!

Fortunately, Bertrand's dentist, Dr. Davidson, was very good at dealing with special children like Bertrand, and he had a technique: Cristina held Bertrand's legs around her waist, Dr. Davidson held Bertrand's head between his legs and then he brushed, scraped and fluorided with a speed and precision normally reserved for Olympic medalists. Bertrand hated it, but at least it was over quickly.

Dr. Davidson had researched Bertrand's condition before he arrived, so he was careful not to use toothpaste that might contain carbohydrates. However, we think the fluoride paste may have contained carbs, because Bertrand has been a little extra seizurey today.

Only two more hours to go...

Only two more hours to go for Bertrand's first seizure free day! He's had no tonic, atonic (a.k.a. astatic) or myoclonic seizures yet. And, even though we don't count his atypical absence or complex partial seizures, if he's been having them today, they haven't been as pronounced or obvious. To be honest, Bertrand slept quite a bit this afternoon, but his main seizure times are morning and evening anyhow. I hope this post doesn't jinx it!

Bertrand is going to school!

Bertrand had his evaluation at the Carmen B. Pingree Center for Children with Autism today. Dr. Peterson, their psychiatrist, confirmed that Bertrand has some autistic behavior. This led to an interesting discussion about the role CBP could play in Bertrand's development. Bertrand is not a typical toddler or even typical developmentally delayed toddler. In fact, Bertrand has much more in common with a newborn. He needs to attain more basic skills such as trunk control and fine motor development before the established CBP pre-k program could fully benefit Bertrand. "Our staff would feel too guilty to take your money." (You don't hear that often in this day and age!) But, while we were receiving this news from Dr. Peterson, Bertrand was busy working his magic on the staff of CBP. His unruly mop of curls, piercing gaze, cherub cheeks, and love of reading proved too much for them to resist. While their traditional ABA program wasn't a fit for Bertrand, the staff could see a lot of potential in him and felt that if they could work with Bertrand's current physical, occupational and speech therapists, a difference for Bertrand could be made. They put their heads together to come up with a radical departure from their current program, custom tailored to Bertrand. His will be the very first one day per week program and the focus will be on communication, sensory integration and, of course, socialization. At the end of each semester, Bertrand's goals and progress will be evaluated to see how his program needs to be adjusted.

Today was a triumphant day. :)

Quickie Update

First of all, yes, we are alive. The past week has been extremely challenging for our family, and in my typical fashion, rather than talk (or blog) about it, I was buckling down and trying to problem solve. Well, the problems are not solved. Gasp! I am not perfect! ;) But, I feel we have recovered significantly--at least I have a moment to sit at my computer. Here is the rundown:

Thursday 12/31
Bertrand had his first tonic seizure. Mama desperately hopes this is a one time occurance due to the holiday excitement.

Friday 01/01
Bertrand has two more tonic seizures. After some panicked email correspondence, his keppra is near doubled to 375ml.

Saturday 01/02
Bertrand is hyper, jittery, nasty, and has increased myoclonus. No tonic or atonic seizures though. He begins to nap only ONE hour all day and loses ability (maybe refuses?) to sit or spin. He earns the nickname "demon baby".

Sunday 01/03
The demon baby rampage continues. Bertrand is super jittery, vicious, and has even FURTHER increased myoclonic seizures, but no tonic or atonic seizures. He is still missing the ability to sit, play with toys and smile.

Monday 01/04
Demon baby is given a dose of B6 which, according to Elizabeth (my keto guru from N'awlins), helps with "keppra rage". Bertrand takes TWO one hour naps and has one less myoclonic seizure from the day before, sits aided and has a brief 10 second spin session!

Tuesday 01/05
Phew! With lots of B6, sweet Bertrand makes a come back! Only 3 myoclonic seizures! He smiles again, spins freely, and can sit better. His therapist notes that Bertrand's aim is like a drunk's. He takes 5 hours worth of naps. Mama is MUCH relieved.

Wednesday 01/06
Bertrand is sweet and flirtatious at therapy. His actions are still drunk-like. He is back to sitting and playing with toys. He is back to taking naps. Myoclonus are down to 2. Mama is excited to be getting a trial of the KetoVolve formula in the mail soon!

Thursday 01/07
Bertrand will have an intensive 4-hour evaluation at the Carmen B. Pingree Center for Autism. This will determine his eligibility for their 3 hour, 3 times a week autism clinic. Mama would attend the pre-k with him! If there were ever a grade I would like to repeat--pre-k is it. ;)

Friday 01/08
Bertrand has an appointment with rehabilitation doctors Judy Gooch and Allison Oki. They are bound to be impressed by his 2 hours per day in the stander, and his correspondingly improved hips and feet!

Next Week
Bertrand has a dentist appointment, visual therapy, physical therapy, occupational therapy and musik garten class.

A talk with our favorite neurologist

Bertrand is not worried about his MRI. He has more important things to do.

Today I had a talk about Bertrand's most recent MRI with our favorite neurologist, my dad. I think it broke his heart to tell me that he agreed with the radiologist's opinion. Compared to Bertrand's first MRI, he saw white matter loss and an enlargement of the ventricles (in likely compensation). In his opinion this was consistent with an inborn error of cellular metabolism--a remote ischemic insult seems unlikely.

This is by no means new news. We learned about Bertrand's brain damage almost 8 months ago and we've known for over a year that Bertrand's condition has some kind of genetic basis. I just wish that after all poor little B has been through (with the scars on his arms, hands and feet to show for all the blood draws) we had a lead!

If we could only put a name to his condition, then maybe we could find a corresponding enzyme treatment (which has done wonders for children like Bertrand's friend Hannah with Gaucher's disease). If we had a name, then maybe we could do more.

Now, all we can do is keep doing what we're doing--loving and doing the best we can for B--and leave on the blinders which allow us to live day by day. If I kept the prognosis for individuals with errors of cellular metabolism at the forefront of my mind, I would never get out of bed. I would never be able to be the mother Bertrand needs me to be. So we'll keep living each day of 2010 to the fullest, and hope you all do the same.

Tonic Seizures: Next Step

Bertrand's neurologist has been very supportive and quick to respond in regards to Bertrand's tonic seizures. Given that today is a holiday, she is not at work, and we are seeing her later this month on January 21st, her concern is even more meaningful to us.

Because he is on the 250mg sugar free keppra tablets and tablets are harder to titrate, we have to go up by 125mg each dose. That would be 375mg twice a day which is around 60mg/kg/day. That's a fairly high dose of keppra which will hopefully help, but we'll be in contact with Bertrand's neurologist should any problems arise, such as sleepiness or other toxicity symptoms.

(Just in case, I will be heading over to Jolley's Compounding Pharmacy as soon as it opens, to get a special sugar free version of liquid keppra made for Bertrand. This would make his Keppra dose easier to titrate.)

Bertrand's myoclonic jerks and atonic episodes are still down around 0 to 4 each, everyday, which I feel is still an improvement from the 100 some each daily he'd have back in October. I don't have to worry about him falling as much and he can play with hard toys now, instead of only soft ones in case of a head butt.

His myoclonics, atonics and now the tonic seizures only happen in the early morning (before, during, or just after breakfast) or early evening (just before bed when he is tired). For most of the day, Bertrand is lovely. :)

Given this morning and evening pattern, however, we're back to discussing an evening ratio shift with his keto team, to see if that will alleviate some of the early morning seizures.

Tonic Seizures

We were really hoping that 2010 would be different. We should've been more specific--better than 2009, not worse. After all, wouldn't it be hard to get any worse than 2009 for us? We were wrong. Here is the email I sent to Bertrand's doctors this morning.

Yesterday afternoon, Bertrand had a tonic seizure. He had another one this morning. They are about 5 seconds long. His eyes cross slightly, both his arms are stuck out in a rigid pseudo hug (wrists and hands turned in). After them, he is inconsolably upset.

Happy new year,
Cristina