[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.