We received the results of Nora’s SCN1A (neural sodium channel gene) test today.  It is negative.  Meaning she does not have that gene mutation.

This is not really good or bad news, just a piece of information.  The SCN1A gene is typically associated with a group of epilepsies that have some similarity to Nora’s.  (A technical discussion can be found here.)  It could be that Nora does in fact have a mutation to do with that gene, but not something the tests can yet recognize.  She could also have a mutation on a different gene, such as SCN2A or others.

To put it in good news / bad news terms:  the bad news is that we still don’t know why Nora is having seizures, and what if any genetic component is responsible.  If she did have the SCN1A mutation, then at least the doctors would have cases to compare her with and an idea of best treatments.  On the other hand, it’s good to know she does not have the SCN1A mutation, because some of the resulting epilepsies are quite debilitating.

So both of the genetic tests (the previous micro array test, and this SCN1A test) are negative for Nora.  That is good.  But we still don’t know why she has epilepsy.  We may never know.  For now, our best path forward is to continue the diet.

[Insert your worst curse word(s) here. Responses will vary.]

Nora had more myoclonic seizures today, 5 total. It was hard to see them come back. They were clustered in the afternoon and she had none in the evening, so I’m hoping that we are regaining ground. I took another keto reading this evening, and she is in hard ketosis (160+). Whatever happened to our seizure control, please let us find it again quickly. Ted pointed out that yesterday’s lower reading in the morning was probably too low. We had not monitored it for awhile, but the last time we were consistently checking she was also in hard ketosis in the mornings.

We have read similar stories of setbacks by other parents, so we know that it can slip away mysteriously sometimes and take time to get seizure control back, and that it is entirely possible. It is hard to have a setback, but it will happen and we keep moving forward.

Ted is wondering about the recent addition of pickles, but I still have my stink-eye on the brownies. This morning as Nora was waking up, she was talking in her sleep: “Give me my cookies back! I want my cookies!” When she woke up she told me, “I want something, but you will be mad.” I assured her that I wouldn’t be mad, so she told me what she wants, “a really delicious sweet to eat treat.”And I was not mad.

Of course, it is entirely likely that the loss of seizure control and her desire for sweet foods is coincidental. But if she had a blood-sugar-like response to the brownies (both no-carb stevia sweet and caffeine), then maybe her body’s glucose-energy system kicked in again: her pancreas released insulin to unlock the sugars and were bopping around telling her to eat some damn sugar. No one knows how exactly the diet works, but if it works by suppressing the whole glucose-for-energy system and its hormones, and her system was re-awakened, maybe that explains the loss of seizure control.

My theories are not entirely made up (only the connection to seizures part): “The tongue recognizes ‘sweet’ flavors as sugars or carbohydrates, and it signals the body to start producing insulin to help regulate blood sugar levels. Well, when we drink diet soda, there is sweet flavor but no actual sugar going into the system, so our bodies now crave sugar as our blood sugar levels have become unstable. This brings on food cravings and sugar cravings in particular. For this reason, diet soda also causes diabetes and pre-diabetic conditions. Awesome.” From Diet Soda Makes You Fat.

Wow, better get out of my armchair. That’s too much biochem doctoring for me tonight. I feel like I need a disclaimer here–and if anyone else has a better idea, I’d love to hear it.

Nora slept well on Sunday night. I slept with her again to keep a closer “ear” on her. She had a few bigger myoclonics in her sleep, which I am sure is still pretty usual for her and no tonic-clonics.

This morning she was her bright and shiny usual self. When Laura came to take care of her for the day, Nora became a mermaid and insisted on hopping around the house on her tail (rejecting Laura’s clever suggestion that she is a magic mermaid that gets legs on land).

There are also a few good suspects, or a confluence of factors, that probably explain this seizure. On the top of my list is the brownies I made for her on Saturday and their caffeine content. Although she got a small amount of caffeine in absolute terms (maybe 10 mg), it is probably 4 to 8 times more caffeine than she is accustomed to. Caffeine is a known seizure trigger for some people and she was sleeping restlessly, although she has had restless nights with a seizure in the past so it is impossible to know the causal connections.

We are fairly sure that she is still strongly in ketosis after we tested her urine on Sunday morning. I don’t think that she ate anything that we didn’t know about, although the Atkins diet points out that caffeine can trigger the same insulin response as sugar, so it mimics an increase in blood sugar even in the absence of carbs. I haven’t looked for any other verification on that point, but it is an interesting consideration for someone on this diet.

While we pondered the reality of another seizure yesterday, I’ve come to several conclusions:

• Nora has epilepsy. And she always will. It is likely that she will always have a lower seizure threshold, even if she “grows out” of her strong tendency to have seizures now.
• And we will always worry about her. For many good reasons.
• Even with another tonic-clonic on her record (her last one was 6 months ago, before the myoclonics started), she is still vastly beating the medical benchmark of a 50% reduction in seizures thanks to the diet. I am assuming that the docs will count all seizures equally, because tonic-clonics are a less troubling type of seizure overall. We’ve got our questions in with the doctor now.

Thanks again for all of the support and kind words from our friends. Nora is still our example of resilience and energy.

Last night at 3 am Nora had another tonic-clonic seizure.

She was stirring in her sleep around 11pm and I was still awake, so I went in to lay with her. I decided to stay in her bed. She slept fitfully, was having bad dreams, so I did not sleep soundly either. I woke at 3 am and knew she was having a seizure. It lasted around 1 minute as usual; when it stopped she slept peacefully on my chest for the next hour. The time from 3-6 am passed slowly, every little twitch and jerk maintaining my adrenaline levels. I probably dozed occasionally.

Around 6 am she woke up complaining that one eye and one foot hurt. Then slept a bit again. Ted found us with the lamp on and heard the news. When she woke again she was irritable, but now seems to be feeling better with constant parental attention. She is singing and chatting with Ted as they read books and he feeds her breakfast.

I had plenty of time to ponder “why?” in the dark. The brownies I made yesterday? There was nothing new in them, although she had more cocoa and stevia yesterday than usual. Too many calories? We ate lunch at the co-op with her usual foods, but I estimated amounts by eye. Maybe I missed something? Did she eat something that I didn’t see? Is the window gel cling that she ate last week haunting us? Constipation? Lack of sleep? She didn’t nap yesterday and was not sleeping well.

Ted has been on edge for a few days, feeling that something was off. I made the decision to sleep with her last night. Can we see the subtle signs? Maybe that is a good thing, but can we keep track of the times when we were anxious and nothing happened?

What now? We are on edge again. Today the anxiety will be the worst, and it will subside if there is no more seizure activity today. What about tomorrow? Should she go to swimming lessons tomorrow? Should I stay home with her instead of having the babysitter spend the day with her? How do we add this to the graphs? We haven’t been plotting tonic-clonics. I don’t want to see another data point (that’s a joke. haha.)

Long term, why a tonic-clonic? We haven’t seen one since August–what does this mean? I can’t help but be disappointed that the clock re-starts today on the 3-month-seizure-free goal to end the medication, and the 2-years-seizure-free goal to grow out of it.

There will always be more questions than answers. As I pondered this from 3-6am, I thought that this experience is like falling into a deep pit. I feel like we hit the bottom in November. Now we are trying to climb out, but will lose a foothold and slide back down a few times before we finally make it to the top. At least we aren’t alone down here in the dark.

Time for updated plots.

Nora is continuing to do well.  We still get a little hint now and then that her seizure threshold is still low.  She had a loud myoclonic seizure falling asleep last night, and I thought she was just a bit dizzy and weird yesterday.  Just a little.  But on the whole she is doing really well.

She protested going to bed the other night, telling me that she needs someone to sleep with her and that if she was alone it was really “tragic.”  This morning she was pestering me to get out of bed and told me that I was “delaying.”  Smart kid.

Daily mycolonic seizure count since the start of the diet (Nov. 28) with an exponential fit. The half-life of the decay is 16 days.

Daily myoclonic seizure count with Ketogenic Diet details.

Daily myoclonic seizure count by three therapies: Keppra, Depakote, and the Ketogenic Diet.

Not much new to report.  Nora is still doing well.  She had a cold last week but is mostly over it now.  The other day she used the word “remedy.”  She has been very affectionate toward me lately, and very anxious for my attention the minute I walk in the door in the evening.

I have new plots, so let’s get to it!

Nora's daily seizure count since the beginning of December with a log fit.

Daily seizure counts since the beginning of reliable records. Also plotted is the three main therapies we have tried: Keppra, Depakote, and the ketogenic diet.

Daily myoclonic seizure count plotted with dietary metrics. The red line is the ratio of fat to (carbs+protein) scaled so that 15=3. You can see that moving this ratio to 3:1 has been very effective at controlling the seizures. About a week ago, we also decreased her daily caloric intake after consultation with the pediatric dietician.

These plots really demonstrate how effective the diet has been.  May it please continue to be effective.  And all hail Christy for her masterful administration of diet.