Nora was born in 2008. She had normal or faster than average development in all ways. She has always been a particularly active and opinionated child since the moment that she was born.
In November of 2010, the day before Thanksgiving, Nora had her first tonic-clonic seizure. It lasted about 1 minute. We called 911 and the EMTs arrived in about 2 minutes. She was standing next to me when it began, she collapsed into my lap, convulsed for about 1 minute while turning blue, then went limp, resumed breathing and slowly came to. Afterward she was completely exhausted, which is entirely normal, so she slept on and off through the medical checks. The EMTs transported us to the emergency room, where Nora underwent all of the typical tests for major seizure causes. Her CAT scan was normal, spinal tap normal, no fever (they took her temperature at least 3 times. The EMTs at one point said that they thought their thermometer wasn’t working, they were so anxious to find a fever to explain the seizure). After a night in the hospital, we went home with no explanation. Everyone hoped that this was an isolated incident, although we were considering seeing an neurologist.
Before we could see a neurologist, Nora had another tonic-clonic about 3 weeks later while at daycare. The ambulance was called again and Ted met Nora in the ER. She had another seizure while in the ER, and they pumped her full of Levetiracetam (brand name Keppra), an anti-seizure medication. This time they did an MRI, which was also normal. We went home with a prescription for Keppra, while Nora was dizzy and disoriented from the initial high dose.
After 2 unexplained seizures in 3 weeks, Nora got an appointment with with Dr. Thomas Koch at Doernbecher Children’s Hospital in Portland, OR, at the end of December 2010. She was considered an urgent case, so we were able to get an appointment within a few weeks. Nora’s EEG was normal and Dr. Koch told us that Keppra was his first choice for seizure medication because of the lower incidence of side effects and because it does not affect development. With a normal CAT scan, MRI, and EEG, we were told that Nora just seemed to have a lower seizure threshold than most people, and that anti-seizure medication would give her the best chance of outgrowing her tendency to have seizures.
Nora hooked up for an EEG
For 6 months, Nora took Keppra twice per day and she was seizure free. She seemed to have some side effects, such as aggression and hair loss, but we started to feel confident that the Keppra was preventing seizures. In July, we got approval from Dr. Koch to wean Nora off of the Keppra. We were told that 50% of kids will grow out of their seizure disorder in 6 months, so we decided that it would be better to be done with the Keppra sooner rather than later, if it were possible. If she had another seizure, we would go back to Keppra.
Just a few days after completely stopping Keppra, Nora had another tonic-clonic seizure. It happened during the early morning hours. Nora was not sleeping well that night, so I had been in and out of her room several times. I was tucking her in again and the seizure began while she was in bed. We called the neurologist’s office in the morning and started Keppra again right away.
Nine days later, she had another tonic-clonic while we were at the swimming pool in the afternoon. She recovered fine, the EMTs were called to check her out, and I was able to take her home with me as soon as I was able to put her in the car. During this time, we were building back up to a full dose of Keppra.
Five days later, she had another tonic-clonic while we were visiting the Oregon coast. It started in the car, so we stopped and took care of her, then drove right home when we were sure that she was ok (thankfully, we only live about 1 hour from the coast). She slept almost the whole way home, and was disappointed to find that we were in our driveway when she woke up because we were planning to stop for ice cream. She was in a great mood for the rest of the evening, but had another tonic-clonic at approximately 9 pm. Again she slept and recovered. We had her in our bed to keep an eye on her. Then she had yet another tonic-clonic that started in her sleep, around 1 am.
Three tonic-clonics in one day was devastating. And the next day, the myoclonics began.
A myoclonic seizure is a short involuntary bodily jerk. They are considered a type of generalized seizure because the whole brain is involved, but for Nora the jerk was contained to her upper body. Some could be so strong that it would throw her off-balance, and often she would have one while eating so food or cups would go flying. But immediately after a myoclonic, she was usually perfectly normal. She did not seem to be aware that she had a seizure, only that something fell or spilled. Sometimes there would be a longer postitcal period, where she was disoriented or irritable. We managed to catch one on video from Nov. 2011:
At first we didn’t know what we were seeing. It seemed like a relief at first, like she was starting to have a full tonic-clonic but it was somehow aborted. Maybe the Keppra was starting to work. But we realized soon enough that there was something else going on.
Just a note about myoclonic epilepsy: It’s scary. If you Google “myoclonic seizures,” you will see all kinds of terribly scary things, and they are notoriously difficult to control. The worst case scenarios are degenerative genetic disorders that have no treatment. The best case scenarios are still difficult to treat and disruptive to a child’s life and learning. These are heartbreaking disorders for every family that has to deal with it. Although Nora did not have other symptoms of the terrible degenerative disorders, it was terrifying to think that she could have one of these disorders.
We did not keep great records right away because we didn’t realize what was happening. On the third day after they started, I wrote down the times that I saw them–10 confirmed or suspected myoclonic seizures, scattered throughout the day. Our records show that we were counting under 10 every day for a few weeks, then they started to climb a bit. All this time she was taking Keppra, which didn’t seem to be helping. The neurologist had us increase the dose for about 3 weeks, and the myoclonics only increased. For 1 week we tried a lower dose of Keppra, as we had read and heard from a neurologist friend (that’s handy–yay for Dr. Amanda Diamond!) that Keppra can aggravate myoclonics for some individuals, even though it was approved as a treatment for myoclonic epilepsy.
It was a frustrating time. The neurologists couldn’t tell us much of anything about a diagnosis or prognosis. That’s the crazy thing about epilepsy: we can’t see inside the brain, and we just have to wait and see how it develops. At one point Dr. Koch said in passing, “it seems like she has juvenile myoclonic epilepsy, but that doesn’t usually happen until around 8 years old.” That was Nora, always doing everything early.
We could also experiment with various drugs to see what happened. We felt like we could only throw a drug at it and wait awhile, then if it didn’t seem to be working, they would say: “Then increase the dose. Still not working? Increase the dose. Still not working? Decrease the dose? Still not working? Different medication…” Our record keeping began in earnest to figure out what was going on with Nora.
After persisting with Keppra for about a month, we switched to valporic acid, brand name Depokote, which is considered the best choice for myoclonic epilepsy. It took about 2 more weeks to completely wean her off of Keppra and build up to the full dose of Depokote, and by the end of those 2 weeks we had amazing results. She was having 7-13 myoclonics per day in early October. Then, the drop:
- 10/11: 13 seizures
- 10/12: 7 seizures
- 10/13: 4 seizures
- 10/14: 2 seizures
- 10/15: 1 seizure
- 10/16: 0
Then she hovered around 1-2 per day for about a week, only on a moderate dose of Depokote. We didn’t know it at the time, but these drugs can have a “honeymoon” effect: they start working right away, then the brain gets used to it and it wears off. We tried a higher dose, but still her seizures kept increasing, leveling, and increasing. During that time we had also started reading about diet approaches and fooled around with a low glycemic index approach to keeping her blood sugar level. We were not counting carbs, just cutting out sugar and feeding her regularly to keep her blood sugar stable. Although we didn’t know if we were getting results from the diet, Nora’s mood seemed better overall.
However, Nora slowly started having more and more seizures again gradually. We could see that the Depokote was probably not aggravating her myoclonic seizures, as we suspected with the Keppra, but it was not helping her either.
To continue the story from here, in the blog I will reproduce some email updates that I sent to friends and family, explaining Nora’s testing, the doctor’s opinions, and our transition to a diet approach. They are posted in order with the date noted; go to the oldest posts and read in chronological order. You can also choose the “Nora’s History” category from the right-hand menu to see only the posts about her progress.
I just came across your website. I haven’t had the chance to read all of Nora’s story, but did just want to ask if she’d been tested for a mutation of PCDH19. There is a lot of overlap in the history of kids with SCN1A mutations and PCDH19. PCDH19 tends to only affect females.
My daughter has Dravet syndrome with a mutation of SCN1A and is on the modified Atkins diet (spent 3 years on full keto). I am on the board of Dravet.org. You probably already know that Dravet syndrome is a clinical diagnosis that is only confirmed by genetic testing. Up to 20% of kids with Dravet will test negative for a mutation. However, I see that Nora was about 2 when she first had a seizure, which is quite late for Dravet.
I wish you all the best in your quest for a diagnosis and treatment for Nora.
Sincerely,
Angela Black
I wish you
Thank you, Angela. We will look into the PCDH19 gene and ask Nora’s doctor. I don’t recall that it was mentioned, but it was certainly not on the top of a list. He was very interested in the range of outcomes for people with the SCN1A mutation, with Nora on the very mild end if she had it. He seemed skeptical about doing any more genetic testing (he was very focused on SCN1A), but we will bring it up at our next appointments.
I am glad that your daughter was able to move to a less restrictive diet. Thank you for your kind words and work.
I agree with Angela. Dr. Koch is a great doctor, and it’s smart of him to have tested Nora for SCN1a first, since that’s the most common identifiable cause of seizures like hers. But probably the case that there is an answer buried in the DNA blueprint somewhere, and it’s just a matter of whether or not it can be uncovered.
PCDH19 is a possibility, as is SCN2a, SCN1b, GABRG2, GABRD, and (more recently) SCN8a.
Oh, and one more detail: make sure the SCN1a testing included both sequencing and deletion testing.
I just found your blog this morning (and between breakfast preps., taking kids to school and the myriad of other tasks I have been reading Nora’s story…I love her name, btw!) My son, Sam (who is 10) is 10 weeks seizure free today. I am almost afraid to write it. He is newly diagnosed with a primary generalized seizure disorder and our neurologist suggested that we wait on meds and try the Modified Adkins verson of the Ketogenic diet as a 1st line of treatment (which is very rare I understand.) The diet has its challenges but seems to be working well for Sam. Thank you for sharing your experiences. It helps me so very much to read other families experiences and know that we aren’t alone. Have a great weekend!
I’m glad to hear that Sam seems to be responding well to the diet. It’s amazing, isn’t it? As you read, we also started on MAD and moved to a stricter keto diet because she seemed to be doing better. I hope Sam continues to do well on the MAD diet. And I know what you mean about not wanting to say “seizure free”–we have gotten superstitious about too (knock on wood, throw salt, etc.)
I hate to say it, but there will be set backs. And sometimes you don’t know why. It’s frustrating, but trust that if the diet works, it works. It’s great that your neurologist suggested it right away. I’m happy that we only went though 2 drugs; there are stories of families that go through 10. How horrible.
Keep at it! Check out all of our recipes! It really helps to have something that is bread-like, even for the texture. I will keep posting recipes as I make them.
Hello Christy,
Wow… I was just directed to your blog by a Modified Atkins yahoo forum… and I can’t believe it, reading Nora’s story is like looking into a mirror! I have never met or heard of anyone who is experiencing what we are…
We have 6 year old identical twin girls. Both our girls have been diagnosed with JME… our girls haven’t had TC seizures but started with Myclonic Jerks at the age of 18 months and it took another 18 months for a diagnosis. Unfortunately, like you said most kids with JME start their seizures at about 8 years of age, so to see toddlers with this diagnosis is rare. Only one of our girls has had a tonic seizure to date. In fact, we got to see a professor last year and she explained that the girls were so rare that there is no ‘syndrome’ associated with their diagnosis. My girls are extremely photosensitive and often ‘self induce’ a seizure. All the tests have come back normal, the only thing left to do is gene sequencing which should be done in the next 12 months or so. This is being done through a research team here in Australia, who are looking into our families as their is a strong history of migraine and another case of epilepsy in the family (which is not uncommon with JME).
We have been on the medication roundabout, without success, in fact they went from 6 seizures per day to 130 per day. We started MAD in October 2011 and have success in the range of 80-90% and as you said it can be a bit hit and miss with MAD.
I am so glad I have found your blog and would love to chat more.
I look forward to reading through your past posts.
Krischelle
Hi Krischelle,
I would really like to talk with you more about the diagnosis issue too. If you think MAD is helping, they say that moving to a higher ratio is like increasing the dose and you might get better seizure control. That was our approach, but it seems that doctors in different parts of the world are giving different advice. I would think about it if I were you though. There are so many ways to make this diet palatable now.
Keep us updated and be in touch. We will see Nora’s doctor again on Friday for her 3 month check up, so hopefully it’s all good news still but I want to push him more on the diagnosis and possibly doing more genetic tests.
Christy
P.S., Sorry for the late response. I was away from home for a few days for a meeting and fell behind!
I stumbled upon your website today, looking for recipes for the MAD diet. We placed our son on the diet three months ago, and I am trying to convince my husband to do the full blown keto diet. We are down to 2-4 seizures a day, compared to 40-75 a day. Down from four medications to one. Our family also went completely organic, natural with our foods, which seemed to help the MAD diet outcomes even greater.
Thanks for your website. It is inspirational.
Congratulations Danielle! We definitely found that increasing the diet ratio helped Nora. Now she is at 3.5:1 and 7 months seizure free, and drug free! Even small increases in the ratio could help, until you find the level that he needs. And the keto diet sounds very difficult and daunting when you start out. It helped me tremendously when I found other parents that are making it work–not only for seizure freedom, but fitting it into the daily routine and having a happy, healthy eating kid. Look at our recipes, go to http://www.ketocook.com (and see their cookbook, if you haven’t yet). It helps to have full information about what is possible when deciding whether to go with a stricter diet. From our experience, it’s been a wonderful therapy for Nora and very doable.
As I type, I’m finishing some baking for Nora–fiber rolls (recipe on the blog) and snickerdoodles (from http://www.ketocook.com)!
Greetings from down under – Australia! My son aged 10 sounds like he has had a similar story to Nora – started with TCs and developed Myoclonics at around 4 yo. The TCs are controlled by meds but the myoclonics are just increasing both in number and severity as he is getting bigger. We are about to start the MAD diet in Feb, so I am very excited to have found your site! Thankyou so much for all your hard work on this site – I will be following your progress with Nora with much interest! As I saw on a previous post, you are an inspiration!
Rebecca
Good luck Rebecca, I sure hope it helps. Remember that it’s really hard to get started, for both you and your son, but if you see it through it can be a life changer. I’m happy to answer questions and provide support.
There is another family from Australia that we have been in touch with, twin girls with a similar story. We could try to put you all in touch with each other (privately, off-blog). Our doctors are trying to work with their doctors to see if there is some genetic similarity underlying this, because Nora has been quite a mystery to all of the smart doctors here. It’s good to not feel so alone.