[This is a reproduction of an email that I sent to family and friends on January 12, 2012. For previous history, see Nora’s Epilepsy Story and previous posts tagged “Nora’s History.”]

Hi friends,

We went to Portland today with Nora to visit Dr. Wray, who specializes in the ketogenic diet and kids with tough forms of epilepsy.

He reported on the tests that we had done at the end of November. The micro-array came back normal, meaning that she has no chromosome deletions or replications. He was not particularly surprised by that result, because she is so normal otherwise. The other metabolic tests also came back normal, so she is using the energy from food in her body in expected ways. All good and normal.

Unfortunately, they did not submit the order for the more specific genetic test for a mutation in the SCN1A gene. I have not done much research on that, but as I understand it has to do with the body’s sodium channel. People with this particular mutation have a broad spectrum of outcomes, from never really developing properly from the start, to myoclonic seizures but otherwise normal like Nora. (Be careful if you look it up, because the devastating forms are the best understood. They are just learning about the milder forms now that genetic testing is more available.) They took blood today to get that test done. I will have to do more research to really understand what that would mean for her, but his basic perspective was two fold: (1) If she has this mutation, her seizures are explained and her long term treatment will be better informed, and (2) it doesn’t say very much about her long term prognosis; she could still develop normally to her full potential. He said that many patients with the mutation respond well to the keto diet, and even if she has it she could still grow out of the seizures. If the test comes back negative, then we are still where we are today.

And where we are today is pretty darned good. We’ve had about 1 week on the new formulation of her carb-protein-fat ratio. It has been easy to hit the targets every day, usually within 1 gram on each. Better yet, she has shown steady improvement all week and had a seizure-free day today. She is sparkly, sharp and witty when her brain seems to clear of the seizures, which is a delight. Dr. Wray was genuinely pleased to see her looking and acting so well. He had a resident following him around, and explicitly used Nora to show the resident what a “normal” kid is like in muscle tone, eye response to a test, etc. (compared to a kid that they just saw in the office, which is so sad to think about).

We talked about our modified-modified version of the diet, and he was happy to let us do it as we please if Nora is responding well. He said that with her higher fat intake, he is going to treat her like a kid on a keto diet and follow her more closely with testing, rather than the lighter testing they do with kids on the MAD diet. They took enough blood today to do some of those tests to make sure that her body is handling the diet ok. For her bravery, she chose a big stuffed ostrich, now named Ossy who is sleeping with her tonight.

We learned a couple of factoids about the diet that we wish we had known sooner, for example, it is extremely common to have seizures in response to constipation (the bowels are closely tied to the vagus nerve. One epilepsy treatment is to install a vagus nerve stimulator to regulate it, like a pacemaker for the brain). And gee wiz, it’s no surprise that this diet will make a person constipated! That seems to explain the last bout of seizures that she had last week. Now we know to prevent constipation before it happens with some gentle laxatives on a regular basis.

If we can keep everything going as well as it has this week, he said that he would consider taking her off medication in 3 months. We can communicate with him via email (and he wants Ted’s super database and graphs), so we don’t have to go back for an appointment for 6 months! Yippee!

We will keep in touch with the dietician as well to make sure that Nora’s weight is staying in the normal range. It is uncommon for kids to get overweight on this diet, and somewhat more common that they lose weight, so we will just keep adjusting her total calories as she grows. And she has grown a lot lately, and visibly has more meat on her historically lean frame. It’s kind of nice to see her filling out, she looks more like a typical 3 year old. Maybe this diet is more appropriate for her body’s needs in more ways than just seizure control. She certainly seems happy about it overall.

I hope this is the last update for awhile. If you don’t hear anything, assume that all is well. We will expect some ups and downs along the way but hope that we are on the right long-term trend.

[This is a reproduction of an email update that I sent to family and friends on December 30, 2011. For more previous history, see Nora’s Epilepsy Story and previous posts tagged “Nora’s History.”]

Hi friends of Nora,

A quick update on how Nora is doing with her Modified Atkins Diet (MAD) for seizures, her “special diet” as she says.

First, we have to conclude that the diet is having a positive effect. We calculated average daily seizure counts for 4 “eras” of this 4 month adventure. When she was on a drug that we perceived as “not working,” she averaged about 12 seizures per day in each of those time periods. The minimum number during those times was around 5 per day, and maximums over 20.

In the “eras” when we felt like we were making progress (the Depokote “honeymoon” period and this recent trial on the diet), the average per day is around 5, minimum of 0 on some days, maximum under 20. That tells us that the diet is working, and they say that if the diet works in the beginning, it tends to keep on working. The frustrating part is that we have runs of 0 seizures for a few days, then they come back for a few days, then they go away again. We seem to be better about re-gaining our ground when she has seizures, but it is hard to tease out why the seizures return.

She is happy with her food choices for the most part. Her new favorite carb is baby carrots. Their high fiber offsets some of the delicious natural sugars. Toasted seaweed snacks are also a hit. I’m working on low-carb baking, which is also gluten-free baking by default. Today I went to Stoker’s VitaWorld and bought some whey protein isolate (which seems to be valued on par with gold), which seems popular for low-carb and gluten-free (and body builders). So we hope to have have a well-muscled, seizure-free child in a few months.

We are also learning just how many carbs her body will handle, how many calories she needs, and how to best deliver that food in a pleasing way while counting it accurately. Ted bought a fancy gram scale with a built-in database of basic foods, so we can quickly and easily see the content of her regular favorites, and get an accurate count of the amount of food that she is getting. It has been a real time saver and makes our carb counting much more accurate.

We find that she is doing best on less than 10 carbs per day, which really hasn’t been hard to do now that her tastes have changed (note that 120+ grams of carbs per day would be typical, and you get some perspective). Through trial and error, it seems that she doesn’t want to eat as much protein as expected by the dietician (50+ grams per day, while a kid her size would normally have 20 g per day), but it has not been a problem getting enough fat into her (130+ grams per day, thanks to warm cream and cocoa). She seems to be doing better when the ratio of fat to carbs+protein in her diet is closer to 3:1, which is closer to the more rigorous ketogenic diet. On the traditional Modified Atkins Diet, the initial ratio is 2:1 fats to carbs+protein, then 1:1 after the first month.

I had a great talk with the dietician about all of this today. Her first reaction was that Nora would be a good candidate for the more restrictive ketogenic diet, based on her response to the diet and our ability to keep track of her foods (most people on the MAD diet don’t keep such detailed records, apparently. Go data nerds!) On the other hand, I am reluctant to go to the ketogenic diet because it is highly managed by the dietician’s office and we are only allowed to use the foods in their database, it reduces my ability to concoct recipes, etc. And it makes each meal much more rigid while limiting her total calories and fluids. These are things to consider when we think about our family quality of life.

Therefore, the dietician and I decided on a trial of a middle ground. She gave me some carb, protein and fat targets that seem more realistic based on how Nora has been eating this last month on successful days (10 g carbs, 32 g protein, 125 g fat), and increases her fat to carbs+protein ratio to 3:1. I can still reach those goals in any way throughout the day, although I am mindful about spreading it out. If we have more consistent results with that plan, I hope that we can continue it without the full rigor of the ketogenic diet. I will further modify the Modified Atkins Diet.

I was relieved to hear that I could safely decrease her protein with this plan, because it has been hard to get enough meat into her; we have only met the protein goal a few days in the last month. This new plan should be more feasible. And interestingly, the keto diet is calorie-restricted because too much nutrition can actually mess with her ketogenic status and allow seizures to return! Sheesh! We are dealing with a finely-tuned machine here.

We will continue on this path until we see the ketogenic-expert doctor on January 12 in Portland.

Nora has generally been in good spirits and full of her usual verve. She has grown and gained 1 pound in 2 weeks. She spends most of her time “reading” these days, either by memorization or improvisation. Ted and the Lego guys have been very good sports about listening to her stories. She has been mastering many new words, including irk, dapper, and epilogue (which she maintains is what you say when someone sneezes. This has been the story for months now. Ted is often corrected.)

Anders continues to thrive. He has been a bottomless pit, mostly eating the same foods as Nora (except for the hot cocoa made from cream), and at least 5 apples per day.

It has been a luxury to all be home together during the winter break. We have had a babysitter on a few days, which has been wonderful too. Otherwise, we have been pretty contented home together. Only 3 more days left, then school and work resume and our adventure continues into 2012.

[This is a reproduction of an email update that I sent to friends and family on December 11, 2011. For more previous history, see Nora’s Epilepsy Story and posts tagged “Nora’s History.”]

Hi friends!

We are happy to report that Nora has not had a seizure since Friday morning! Not only has she been seizure free for over 2 days, but she is full of energy and sharp as a tack. She has not napped, gone to bed later than usual, gets up at her regular time, tries to read to all of us almost constantly, and wants to eat (usually). This has been like a magical transformation!

She has consistently been getting ~10 g carbs per day, 30-40 g of protein, and 120-130 g of fat. She is adjusting well to the diet, not just in her behavior and seizures but in her tastes. Although I have to say that I’ve done a pretty good job of providing palatable foods. Anders eats almost all of the same things, just a little less cheese and eggs (and his hot chocolate is not made out of heavy cream), and many more apples (I think he ate at least 4 today).

People say that when they adjust to this diet, they feel more energetic than ever and mentally sharper, so I suspect that is the effect that we are seeing. Now how will we ever keep up with her?!?

We had a good weekend. Grandma Margie and Grandpa Cliff were here to visit and poured on the love and attention. We went to see The Nutcracker ballet, a local production with some special professional guests from Eugene. It was great and the kids loved it. Nora talked almost constantly, including “I wish I had a dress like that. Oh wait, I do! … Look at them wiggle!” Then we went to have gelato downtown. I had arranged for the gelato store to make a sugar-free version for Nora (although not carb free, but I had to figure that out as best I could). They don’t normally make it because it doesn’t sell, but will make it on request with sufficient notice. I knew the basic recipe for the fruit flavor and knew a small cup would fit into her diet for the day, but when we got there they had screwed up the fruit recipe. They had also made a sugar-free chocolate as an alternative, which was delicious but it was much more difficult to quantify the carbs (it was made with a mix which included skim milk powder, full of carbs). She had a small amount and I made an estimate on the carbs, but was very nervous about it. It is also sweetened with sugar alcohols which just pass out of the body, but can affect some people’s seizures (although it is fine for diabetics because it does not affect blood sugar). I was nervous and her ketosis level was lower last night, but she did just fine.

Every time we check the ketones in her urine, she is at the high range, with the exception of the evening after the gelato (and then it was moderate). I think that we can now be confident that she is constantly in ketosis (although I can’t smell it on her breath, but I can smell it in her urine. Ewww, sorry).

As for the mundane but important issues, she is dehydrated overall and we keep trying to remind her to drink all the time. Pooping has been a little difficult, but we’ve been using a magnesium supplement that should help over time, and I gave her a gentle laxative today in her fabulous hot choco-cream (helps the medicine go down, right?)

It is so hard to believe that the diet is the medicine that we have been searching for. Some people report that it works like this, so I am hoping that Nora is one of those lucky ones who get total control so fast. If this goes on, we can increase her carbs to 20 g in 3 more weeks. Then we could probably wean her off Depokote in 3-6 months. Normally people stay on the diet for 2 years at 20 g of carbs, then slowly increase the carbs until they are off the diet if the seizures do not come back. It is still hard to think 2 years out. We hardly dare to hope that this is the ticket.

Thanks again for all of the support and love. I’m glad that I have some good news to report.

[This post is a reproduction of an email I sent to family and friends on December 1, 2011. For previous history, see Nora’s Epilepsy Story and previous posts tagged Nora’s History.]

Hello from home,

We spent one night at Doernbecher Children’s Hospital in Portland for Nora’s intensive testing. They hooked her up to an EEG for 24 hours with video monitoring (and apparently audio monitoring too, although we learned that after the fact. I don’t think I insulted the docs, I hope.) I think we got all of the glue out of her hair tonight. Ug. In addition, they did one massive blood draw for metabolic and genetic testing.

Wired for motion: The EEG wires go throw the cloth sleeve, into the backpack, then out with 1 cord to the computer.

The very good news is that her background brainwaves still look very normal. This means that it is highly unlikely that she has any of the terrible progressive myoclonic disorders. They caught lots of the myoclonic jerks that we reported and saw some other suspicious events too that will require more analysis, but on first glance the doctor just told us that they saw these suspected seizures that don’t result in a full jerk. In a week or so we will get a report about her full seizure burden.

Her initial blood work was great. All normal on blood chemistry, minerals, cholesterol, etc. She seems completely healthy and fit. We are awaiting more results on some vitamins and the genetic tests.

I feel very positive about the analysis that we got from the doctors. We had our regular doctor, who is head of the department, and a new epileptologist who is an expert on the ketogenic diet. Several residents, and one in particular, spent time with us, along with the dietician. The thing I appreciated most is that we could have conversations as a problem solving team. Everyone is very impressed with Ted’s graphs. His reputation preceded him. : ) One poor resident kept saying “I want to see your graphs” but was swept along on rounds didn’t get back to our room before we left.

Nora with her "bunny ears" for her 24 hour EEG.

The current thinking is that Nora has a benign myoclonic epilepsy. The epileptologist said that about 1/3 of his patients with myoclonic seizures do not respond to these first-line drugs, and about 1/2 of those will respond to the ketogenic diet. That’s the thing that you don’t get when you google this stuff. There are plenty of people with myoclonic seizures that live with it successfully, or that grow out of it. He actually thought that NOT finding out the cause was a good sign. We know the cause of the terrible progressive stuff because it’s terrible. If we can’t pinpoint the cause now (although in the future we may understand more), it is more likely to be benign. Although it is a bit of an article of faith, I appreciate the perspective of someone who has treated similar patients with success.

Our next course of treatment needs to continue to balance present quality of life with future possibility of becoming seizure free. At the moment, she has very good quality of life when she is having less than 10 small seizures a day (it seems that more than that or big ones make her irritable, understandably). They were all very quick to point out that she is very high functioning and ahead developmentally, so it is not impacting her in a major way. Our doctor commented that he is not afraid that each seizure is “frying” her brain. So any treatment decision should maintain current quality of life.

On to the future. As a benign epilepsy, she has a chance to grow out of it. She also has a chance to continue with it for her life, although life can still be very good. To give her the best chances of outgrowing it, the rule is thumb is “2 years seizure free.” So if we can find a way to control her seizures, we can re-train her brain to stop firing on those pathways. It doesn’t matter how we control it, as long as seizures stop. And the sooner, the better.

We now know that 2 drugs have not worked (although they have a third good drug that could be tried, or they could totally dope her up, which would kill seizures and quality of life in one fell swoop. No way.) That doesn’t mean that her epilepsy is terrible, it just means that the mechanism is not the same as that of the drugs. The next step then will be a diet approach, rather than going for the next drug. There are 3 main diets, increasing in severity, that we can try. We’ve been dabbling in the low glycemic index diet, but we learned that we are not quite there on most days so far, even though it is the least restrictive, allowing 40-60 grams of carbs per day. We can start hitting that right away. In the next few weeks, we will move toward the more restrictive Modified Atkins Diet (MAD, great acronym on many levels, I’m sure). At first, we have to restrict her to less than 10 grams of carbohydrates. That is less than 1 slice of bread. Yikes. Half of her total calories come from fat. Double yikes. Bring on the butter, bacon and cream. I’m not joking. If it is working, we can try letting her have 20 grams of carbs. Joy, a whole piece of bread in 1 day!

If that doesn’t quite do the trick, we can try the ketogenic diet. It’s incredibly restrictive. Every meal has to be 80% fat; 8 grams of carbs are allowed all day. We would get a gram scale that can measure to 0.1 gram. It requires hospitalization to begin the diet. It will impact our quality of life. It is intimidating. The keto doctor felt that we should just go for it after all of the tests are back, if she is still the same, but the other doctors and dietician stressed the quality of life issue, especially with a kid who can express preferences (to put it mildly). The less-restrictive diets do work well for some people, so we will do the ease-in approach and try to strike a balance, while maintaining her current medication (Depakote).

It will take weeks to a month for the rest of the metabolic testing and genetic tests. In particular, they are looking for chromosome deletions that will provide clues to her seizure mechanism, and test for 1 particular mutation associated with myoclonic epilepsy (the SCN1A gene, a sodium channel, for those with more detailed knowledge). They are not looking at all known mutations at this point because she does not have any other symptoms.

Nora has really been amazing with all of this. She just rolls with everything, not that she doesn’t let us know how she is feeling, but she is fast to bounce back and carry on. We tried watching Mary Poppins, which was a bit of a surprise hit after she declared it “double boring” in the first 10 minutes, but the dance scene with the penguins had her belly laughing. Any chance to see her smile and hear her laugh rejuvenates me. Honestly, not just in a schlocky parent greeting card kind of way. Not much is going to keep her down, which helps me to not get down too.

Ted and I have been a problem solving team. I enjoy the banter with the doctors, and Ted’s research pays off in detailed questions that make them articulate their thoughts. He is doing a lot better with the emotional side, but it is still a struggle when Nora is burdened by this. Time, understanding and candid conversations with the doctors seem to help. Seeing them really is good medicine, because we do not feel so alone in trying to figure this out. However, the data keeping continues.

I suppose that this will be the last mass update unless and until we hear something specific on the rest of the testing. This email is so long, so thanks for listening and continuing to cheer us on. It helps.

[This is a reproduction of an email sent to family and friends on November 21, 2011, recapping and updating Nora’s progress. For previous history, see Nora’s Epilepsy Story Page.]

Here we are again with another update in the continuing saga of Nora’s mysterious brain. For a quick recap:

As of 10/24: Nora had been weaned of Keppra and started on Depakote, was down to 0-2 myoclonic jerk seizures a day (less than 1 second each; previous high of 20 per day). Saw Dr. Koch, who was as happy and relieved as we were.

10/25 to today: Nora’s daily seizure count increased slowly but surely, to a high of 10 in one day last week. On the bright side, they seemed much smaller and more difficult to detect and her quality of life has remained very good. Seizures then suddenly dropped again to 2 last Friday, and have been hovering around 5 per day since then. A good sign, but we might see them come in waves as she grows and develops.

Last week when seizures were still steadily climbing, we sent Dr. Koch an email with the details and some questions. On Friday of last week the nurse called and asked if we could meet with Dr. Koch in Eugene this morning at 9 am. Of course, we took the chance to talk with him.

He thought that the Depakote was having some beneficial effect (and we could continue to adjust the dosage), but after trying it for a month with these results it is time to get more data on what is “driving the bus,” as he puts it. If we understand more clearly why she is having these seizures, we can fine tune her treatment.

Our next step is to make a 2 day appointment at Doernbecher in Portland, sometime in the next few weeks. We will have at least 2 full days of tests and meetings with other specialists. After all of the new tests, Dr. Koch also suggested that we could send her chart to another specialist if we want a second opinion.

• 24 to 48 hours of video EEG. They can get a longer background EEG on Nora, and hopefully catch more myoclonics to see if they can get more detailed information about where they are coming from.
• Genetic testing (I believe it is chromosomal microarray analysis) to see if there are any genetic abnormalities, such as gene deletions or other mutations that they can detect. Some of the really bad progressive myoclonic disorders have a genetic basis, so we can rule out some of those. He noted that he recently had a patient similar to Nora that had a deleted gene which was also responsible for some hormone functions, so even if they do NOT find some big bad nasty stuff (hopefully), they can get some clues into other bodily processes that could manifest as myoclonic seizures and treat it accordingly.
• Metabolic function tests (I understand that this is just more urine and blood samples). Calcium, potassium and magnesium (I think) are important for brain function.
• Meetings with their new epileptologist from Seattle who specializes in the ketogenic diet and a meeting with their dietician. Dr. Koch highly praises the new doctor and says that he has already done some great things for their patients with more difficult epilepsies.

Now, that all sounds kind of crazy and scary, but it will be very good to get more data. We have always thought that Nora is a little, shall we say, “different.” I would not be surprised if they found some hormonal or other metabolic issues with her. It will also be good to rule out some of the really bad stuff. Dr. Koch reiterated again today that she does not act like a kid with one of the bad progressive myoclonic disorders and her other background EEGs have been very normal. For kids with those disorders, they have other problems and their background EEGs are a “trainwreck” (also his words). My feeling about this is that we can put some resources into finding out what is unique about Nora and find out what we can do to treat the source of the myoclonics and support her system, rather than going through more trial and error with drugs and diet.

Nora is still doing great. It seems that when her seizure count drops, she also gets more feisty and spirited. She didn’t nap for 3 days in a row and has been asking for more “sweet to eat treats” while rejecting her usual high-fat, high-protein favorites like cream cheese. She has been growing like a weed lately too, and is still built like a little athlete. I am sure that she will continue to delight, amaze and inspire us.

Thanks again for all of the love and support that you have all shown through this. It isn’t easy, but I have to focus on the positives and enjoy my silly girl. I feel like this has all made me a more patient parent and person. I can’t control the epilepsy, just like I can’t control feisty Nora, but I can find management strategies that work and keep us all happier and healthier. I can control my response to frustration (keep breathing). We will keep looking for what works for her.