[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.