[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.