Nora’s GLUT1 test was negative, with 91% sensitivity. With no other clinical signs of GLUT1 deficiency in her history (besides seizures and diet success), Nora’s doctor is feeling confident that this is not her issue.

That’s a good thing, because if it were positive she would need to be on a diet therapy for much longer, at least until adulthood. On the other hand, if she were positive we would have a better idea of prognosis into the future. The way would be a little more clear.

All in all, this is very fine news. Nora is still going strong, happy and seizure-free. She’s turned into a delightful 5 year old, transforming into a kindergartener before our eyes.

Summer is lovely here while settling into our new house. I feel close to being moved-in and ready to bake again. Nora has not had any fancy new foods for awhile, relying on her top 15 foods more than ever. That’s all fine and dandy. We got a few red currants from our bush this year and integrated walnuts into her diet. It was an easy way to make something new. She has also liked iced tea, made with a caffeine-free herbal tea and cream.

Happy summer to all!

Happy 5th Birthday to Nora!

Last Friday we visited Dr. Wray in Portland for Nora’s latest keto clinic check up. She is right on track for height and weight, maintaining both at about the 75th percentile. Many keto kids fall behind on their growth while on the diet, so we are very pleased that she is growing normally.

The initial bloodwork looked good. They detected too much calcium in her urine, so they did another urine test to get more information. We have not heard back about it yet, but if the additional tests show that she is at risk for forming kidney stones we will see a kidney specialist. Fingers crossed.

She also had an additional blood draw at the clinic to test for the GLUT-1 gene deficiency. If she has the mutation, it means that her body cannot adequately utilize glucose for the energy to grow and develop, so she will need to be on some kind of diet therapy for the long term. It would explain the seizures, and also tell us something more about how her development will progress. Dr. Wray said that GLUT-1 kids have a seizure window, and after that will stop having seizures but will have development problems. If she is past the seizure window, we may be able to move her ratio down a bit to relax the diet while keeping her seizure-free and developing normally, but we would not expect to completely wean off the diet for a long time, maybe adulthood.

If she does not have the GLUT-1 mutation, then we keep on and wait for 2 years seizure-free then trying to wean her from the diet. Nora’s first neurologist, Dr. Koch, once said that we would just have to wait and see how Nora’s epilepsy presents itself. Ted and Dr. Wray discussed that sentiment, and Dr. Wray agreed. It’s strange to see a kid with myoclonic seizures that is otherwise cognitively normal and doesn’t have one of the identified epilepsies. We know of a few other similar kids through our blog, but there are not so many that they understand the origin of the problem yet. And even if she has some novel mutation, there are many factors that determine how the genes express themselves. He promised that by the time Nora is ready to have kids, the science will have progressed so much that he will have a much better idea of what lies in Nora’s genes and she can come back and visit him then 🙂

And the next day was Nora’s 5th birthday! We celebrated with salmon sashimi, edamame (lots of cream) and Mexican Chocolate Protein Cupcakes. We had lots of friends over on Sunday for a backyard-camping-style birthday party. Nora led the kids through her planned activities and everyone had a great time. Nora declared it her best birthday ever! We agree. We are so thankful to have a happy and healthy 5-year old Nora.

Our local paper covered Nora’s 1-year seizure free anniversary! Front page of last Sunday’s paper! We’ve been local celebrities this week!

Read the story here: http://www.gazettetimes.com/news/local/high-fat-ketogenic-diet-helps–year-old-keep-seizures/article_ca7dc366-6d66-541a-8516-4e87be41c9c0.html

Photo by Amanda Cowan, Corvallis Gazette-Times

I joke that our paper loves a good human interest story more than anything else. Rivaled only by the traffic circle controversy, the plastic bag ban debate, and dog custody cases.

Joking aside, we were pleased with their coverage of Nora’s story and explaining the ketogenic diet to a wider audience. From conversations and contacts this week, I know that our story is important to tell in our community.

My goal in contacting the paper is to create awareness about the diet as an effective and doable epilepsy treatment. I think the best thing that we can do is to show other people that there is hope, and to be there to help them heal their kids. There is a big learning curve for administering this diet, but I believe in the power and dedication of parents to make it happen. By passing along our information, we can help to make a difficult thing doable and we can share the load. Our next step is to set up a support group at Doernbecher pediatrics in Portland to help other families figure out how to get started and keep it up. We are tentatively meeting with the keto-clinic staff after Nora’s next appointment–here we go!

If any other keto families out there have tips or tricks for an effective support group–from either the supporting or being-supported perspective, I would love to hear it. I feel like we have an online support group going on here and it has been so valuable to us. It’s time to pass it forward.

I’ve been crazy busy with school and work lately, but I have a few more recipes and ideas that are ready to be published–so stay tuned!

Milestones are always a time to celebrate and reflect. Nora experienced her last seizure 1 year ago today. In response to that seizure, we decided to move her ratio up to 3.5:1 and we seem to have found the sweet spot. Thank goodness for seizure freedom. Thank goodness for the ketogenic diet.

Thanks to Ted, my partner and the best papa that Nora could have. No one loves her more. You bought us a place of honor among the neurologists and residents at OHSU with your graphs. You helped us to think about the problem systematically while your whole heart was crushed by the weight of it all. We are a hell of a team.

Thanks to Anders for being the best big brother in the world. You have been caring and sensitive to Nora’s needs, far beyond your years while being a normal big brother to Nora in every way. If offered 3 wishes, one is always for Nora to be seizure free and done with her diet (he also wishes to fly and for a magic wand).

Thanks to Nora’s doctor, Dr. Carter Wray, at Doernbecher Pediatric Neurology at OHSU for showing up just when Nora needed you, counseling us, encouraging us, adoring Nora and keeping it real. Thanks for being on our team.

Thanks to Nora’s dietician, Karrie Stuhlsatz, for counseling me through ratios and diet management and hearing out my long winded questions and speculations. Thanks too for being on our team. When we wanted to move the ratio up after that last seizure instead of trying a new drug, you reassured me and supported that decision. I was am so grateful.

Thanks to our family and friends who have supported us all along, praised and loved us through it all, and have completely trusted and respected Nora’s diet restrictions. Thank you to our friends for being thoughtful by giving me the heads-up on picnic and party plans so that I could prepare a matching meal for Nora. Thanks for your patience as I and my gram scale have occasionally invaded your kitchen. Thank you most of all for continuing to invite us to your gatherings, even with all of our complications. Thanks for asking questions and listening to the (again) long winded answers.

Thanks to the other keto-parents out there who have blazed this trail for us and provided inspiration. We celebrate and mourn with you on your journey too. You are a new part of our family and our hearts are always with you. Thanks to the Charlie Foundation for bringing us together and giving us resources and hope.

We’ve come a long way, but it’s probably only half-way into the journey. The rule of thumb is 2-years seizure-free, then weaning will take some time. Even then, we will ease off slowly, so we might have more than one year ahead of us, and I anticipate always avoiding high-sugar foods for Nora. Thankfully, our long-term changes are healthy for every body.

We’ve overcome many hurdles and Nora has defied all of our expectations for compliance and clinical response. She’s the real star of the show, and she knows it! We are all just the supporting cast giving Nora everything she needs to shine.

Ted says:
I’ve mixed feelings.  At once sad for the memories of what was — and the possibility of relapses, however remote — and also deeply grateful for what we have now.  This year has felt like many, but at the same time it is short in the course of epilepsy.  There are many contradictions.  But one thing is true: in December of 2011, when Nora was having many seizures and there was no improvement in sight, I would have given almost anything to be here now, with a healthy, happy, spirited, seizure-free, distinctly-Nora girl.  Christy did a wonderful job thanking everyone.  I echo that.  And thanks to Christy.  Nora doesn’t yet understand what you are doing for her, but I do, and it is written into Nora’s branching path, which every day advances further to a brighter place.

On Friday, Nora and I traveled up to Doernbecher Children’s Hospital in Portland for her 4-month check up. We had been doing 3-month visits, but with her successful treatment Dr. Wray suggested that we spread out the check-ups a bit more. I am sure that Nora is happy to have 3 blood draws per year rather than 4.

Her labs looked good, except for some crystals forming in her urine, which can be a precursor to kidney stones. Ouch. That doesn’t mean that she will ever have a kidney stone, but the lab result led Dr. Wray to recommend precautionary steps. (1) We are increasing her to Cytra-K packets to 3 per day, up from 2 per day. The potassium citrate solution is primarily prescribed to combat blood acidosis, but it also prevents kidney stones from forming (which seems to be a very common use of Cytra for other illnesses). (2) Hydration! On the day that she gave a urine sample, she didn’t pee between 7 am (when she got up) and 2 pm (when I got home from work), even though she had water with lunch and snacks. Her pee was…ick. So pushing the liquids will also help to keep everything more dilute and moving through so that crystals can’t form.

Dr. Wray ran her through all of the regular gross motor checks–muscle tone, running gait, jumping, touch her nose, touch Foxy’s nose, etc. Everything looked good.

Nora’s been growing and on some days she’s starving, so I only increase her protein and fat to maintain the ratio while giving her 1250-1300 calories. So at this appointment I asked Karrie, her dietician, for the carb-protein-fat break downs for a 1300 calorie diet and a 1350 calorie diet. Taking Nora’s current breakdown that gives her 10 g of carbs per day on 1200 calories and scaling that up, Karrie calculated that she could have a max of 17 g of carbs! I had to say thanks, but no thanks. That’s a 70% increase in her daily carbs, and although the math says it should be fine, I’m not comfortable going there right now. Karrie re-calculated for 11-12 g of carbs per day, a 10-20% increase. It’s still a teeny amount of carbs, but now that I’m so used to serving 10 g of carbs per day, this will seem like such a luxury! That’s 16 more grams of blueberries–about 8 more whole blueberries! That’s huge!

After seeing how wonderful Nora is still doing, Dr. Wray again suggested that we could try decreasing her ratio if 3.5:1 is a struggle. He thinks there is a good chance that she will be fine on a lower ratio. But she’s happy with her diet, we have our happy little rut, so I’m not tempting fate by changing anything now. She’s over 1 year on diet therapy and 9 months seizure free. We’ll keep moving toward the 2 year mark for as long as Nora is happy. We had her packed lunch with us, so she showed off her Gelatine Cytra Heart and her Fiber Roll that she was going to eat with almond butter and her mixed berry jam. A real kid meal.

The last time we met with Dr. Wray was just after I had returned from the Charlie Foundation Conference last September. At that time I brought up the possibility of testing her for the GLUT1 mutation, which creates a problem with taking up glucose from the blood into the cells for energy use. Nora didn’t have typical symptoms of a GLUT1 kid (in the extreme, seizures come soon after birth), but there was something about the presentation at the Charlie Foundation that made me think of her, and made me bring it up with Dr. Wray (honestly, I’d have to look back at my notes to remember what it was that was similar. I’m not an expert). The other reason to check for GLUT1 is that people with a GLUT1 deficiency have to be on a special Atkins-like diet at least until maturity or for life because of that metabolic disfunction. If there is any chance that Nora has the GLUT1 mutation, we would want to know because she would never fully wean off of the diet.

Dr. Wray brought up the GLUT1 possibility again on Friday, as he did more research on it after our last visit. One good diagnostic tool is the blood sugar levels measured during a spinal tap. After Nora’s first seizure they did a spinal tap to rule out meningitis. Dr. Wray was able to look back at those records and see that her glucose level was normal then. But he said that both the spinal tap test and the genetic test are now recommended because some people have been found with normal glucose levels and the mutation, and vice-versa. Both tests are necessary for a definitive diagnosis.

Therefore, the next time Nora has her blood drawn they will do the GLUT1 genetic test. Another avenue to explore and more information never hurts. It’s not a big rush because her current treatment is the same with either result. The diet is the very best way to treat a GLUT1 deficiency. In addition, he said that we may not have seen some of the movement disorder/developmental problems with Nora because we had her on the diet (relatively) soon after her epilepsy started, so her brain has been getting the fuel it needs to development normally all this time. Yay diet!

Even while we have great success with the diet treatment now, it is still important to us and for Nora to understand the underlying cause of her epilepsy and why the diet is working so well for her. It matters for her long-term prognosis with or without the diet. It’s also important to us that Nora’s experience can help others. We’ve heard of other kids, particularly girls I think, that have similar epilepsy stories of seemingly benign myoclonic epilepsy. If we can help put some of those pieces together the doctors and researchers might be able to find the common links and understand what’s going on for these kids.

Dr. Wray also suggested that Nora could benefit from a more Modified Atkins-style diet for life, even if she doesn’t have a GLUT1 deficiency. If her brain is functioning better on ketones today, that’s probably only going to change a little over time. It’s not like she will be able to pig out on cupcakes and sugar cookies the day after we wean her from the diet. I certainly appreciate having a long-term view to prepare mentally and emotionally for the school days on a modified diet.

About 1 year ago now Nora first entered ketosis. Oh, those were a first few bad days. She would lie on the floor moaning for toast. I thought that she might chain herself to the refrigerator until we gave her toast and jam. But we survived a long difficult weekend and came out the other side, to ketosis and the first glimmer of Nora getting better after 3 months of myoclonic seizures.

Now she has been seizure-free for over 7 months. Her seizures did not stop right away. We eased into diet therapy by starting with the Modified Atkins Diet, tightening the ratio and spreading her carbs more evenly through the day because we notice that it helped. On Christmas Day last year we had been having success for several days, but decided to celebrate by giving Nora 1/4 piece of toast as some of her carbs for the day. By the afternoon, she was having myoclonics again. So we learned to feed her a more traditional keto diet by trial and error, while consulting with her dietician. After tightening up the diet her myoclonics stopped, but she had a few more early morning tonic-clonics every month or two. After the last one in April 2012 we tightened her ratio to 3.5:1 and she has been seizure-free ever since. What a relief.

Nora has been great lately. We haven’t posted much because life has been busy and we’ve been chugging along with the daily routine. This is a case of “no news is good news.” Nora has been happy with her same-old recipes for the most part. I had done a lot of baking before our quarter started at OSU, so we had plenty of food in the freezer to make it through these busy weeks. I’ve done a bit of baking since then, but the recipes are waiting for another try before I post anything new. On top of it, a recipe for a flaxmeal-based bread fried my hand mixer (there was smoke), so that recipe will have to await new technology at our house!  Nora loved the bread and got to have some PBJ sandwiches, so I hope I can make it again and post the recipe soon.

Our one bit of news is that the kids were both sick about 1 week ago. Nora threw up once before bedtime after complaining of a stomach ache, but she was keeping down all of her Cytra so we didn’t feel that we needed to call the doctor. The next day we reduced her calories and fed her as simply as possible while maintaining her ratio and Cytra rations, but thankfully she kept everything down and felt better. A minor illness was nothing more than a few days of watchfulness and worry, but I felt more at ease because I had just created our illness preparedness plan!

For Thanksgiving dinner I made Nora smashed celery root with cream, cranberry sauce, stuffing made from her most recent flax bread, and chicken. She complained about the whole meal and we had to spoon it into her. I just had to attribute it to the pickiness of a 4-year-old. She had her Keto-Perfect-Cheesecake for dessert, so all’s well that ends well.

Now that our quarter at OSU is over, we are getting ready for the holiday season. I’m going to make some of the cookie recipes from Dawn and Tiffany at ketocook.com as the new treats for this month. I may stick with those tried-and-true recipes, but if I come up with anything new and interesting you will find it here.

Now that we are 1 year into the diet, we can look back at our ups and downs. We can be grateful that we have come this far, and the year ahead doesn’t look so uncertain and daunting. We are finally starting to believe this is really working in the long term, although there will always be a bit of uncertainty about Nora’s seizure threshold. I’m sure that will always be with us. But most of all we are so very grateful to be here with hope for the coming year. Being in the groove never felt so good.

I love Ted’s graph! A year ago at this time we were in the worst place for Nora, through October and November until we started trying the Modified Atkins Diet in December of 2011. We are so thankful that everything fell into place as it did: Dr. Wray joined Doerbecher Pediatric Neurology and started the ketogenic diet program (which was almost non-existant before then) just when Nora decisively failed her 2nd drug trial (first Keppra, then Depokote).

Dr. Wray was clearly delighted with Nora’s progress. When we discussed the “what if” scenarios of either a return of seizures or when she should be weaned off the diet, he said, “at this point, I’m learning about the diet from Nora. She’s teaching me.” He has never had a patient with myoclonic seizures that is doing as well with physical and cognitive development, and she is probably responding to the diet better than any other patient he has had on the diet. Nora is a mystery and we can only wait and see what unfolds for her. We can only be thankful that we are on the good side of this mystery.

And although she is only 4, he offered to relax her ratio if and when she is having trouble with compliance. With her great seizure control so far, he said that the ratio can be an open conversation between Nora and the rest of us. She’s happy, so I have no need to experiment to see what happens. As long as we can keep her happy and healthy on the diet, I’m happy keeping the 2 year clock ticking.

He was also pragmatic about when we start counting the 2 years. He said that she was responding to the Modified Atkins Diet last December, so he would potentially start counting from last December, even though she wasn’t seizure free until mid-April.

I have been very pleased with Dr. Wray’s pragmatic approach. We are all on the same team. But Ted and I are going to be extremely conservative on this. As long as Nora is happy and seizure free, I expect her to be in the diet at 3.5:1 until April 2014. If we have some indication that we can stop earlier or start reducing the ratio, all the better. If Nora gets ill or unhappy with the diet, we can reduce her ratio and see what happens. If she has a breakthrough seizure, we can hold the course or increase to 4:1. Decent drugs are still on the table if necessary. It’s good to know that we have somewhere to go. We have options.

After the Charlie Foundation Symposium, I came home wanting to know the underlying cause of Nora’s epilepsy even more strongly. If we know the cause, it will tell us something about why the diet is working for her and whether she is likely to develop out of it in 2 years. If we knew that the cause is something that she won’t grow out of for a long time, or ever, we can prepare ourselves and avoid the trauma of trying to go off the diet and finding out that she needs to stay on. So we will keep looking and learning. Until then, we are thankful for our good fortune of trying the diet early and keeping our fabulously unique, sharp and creative Nora.

I’m glad that Ted talked about advocacy, because now that Nora is out of crisis mode we are moving into advocate mode. I’m so glad that we started this blog, after so much encouragement from friends and family. At Nora’s last appointment with Dr. Wray, we also proposed starting a parent support group at Doernbecher Children’s Hospital in Portland. We’ve heard that this is the only keto diet program between Seattle and San Francisco, and there is no parent-to-parent support system. We felt alone when we started, but this is so much easier if we share the burden. We can reduce the start-up burden of the diet and help parents quickly surmount the learning curve, so they can move from difficult-diet-with seizures-mode into tedious-diet-routine-reduced-seizures-mode. It’s high investment, high reward if it works: saving your kid’s brain.

At the Charlie Foundation Symposium, there was a paper by Claire Chee, RN, at the Children’s Hospital of Philadelphia. We need our wonderful pediatric neurologists and dietitians on our team, but as Ms. Chee said: “We are the ‘professionals;’ parents are the ‘experts.'” We have the deepest gratitude to all of the other keto parents who have commented on our blog, giving us encouragement. Thanks for being on our team too. And thanks for including us on your team. We are here for you.

Last Friday we went to visit Nora’s pediatric neurologist at Doernbecher Children’s Hospital in Portland.  The visit went well and I certainly get the feeling the medical team there is delighted to see Nora doing well.  I imagine that is both for her sake, and also as a welcome break from dealing with parents and patients that are still struggling, or just starting down the hard road of developing epilepsies and the hunt for seizure control.

Nora is doing very well.  She is about 5.5 months free of tonic clonics, and about 6.5 months free of myoclonics.  She is now 3 months off of anti-epileptic drugs, with the diet (and several supplements) as her only treatment.  Her physical skills and development are normal.  Her vitamin D excess has resolved itself (or was a faulty test result).  Her blood is still a bit on the too-acidic side, but the doctor felt that more potassium-citrate (Cytra) would probably not correct it, and since she is feeling fine, there is no need to treat it.  Because she is doing so well the doctor offered to try her on a lower ratio!  I was very surprised by this.  It’s an intriguing possibility, but both Christy and I feel that since Nora is healthy and having no issues with diet compliance, we’ll hold steady at 3.5:1 for the time being.  But it is nice to know that our medical team is open to trying a lower ratio should we run in to any compliance issues or blood acidosis issues.

We also had an interesting discussion on what would we would do if Nora had breakthrough seizures.  The doctor said that first, he wouldn’t necessarily escalate her therapy if there a few breakthrough seizures.  And he wouldn’t necessarily re-start the two year seizure-free clock!  (All this of course depending on the severity and number of seizures.)  This is a very interesting point.  To give you some background, one of things doctors and families strive for in epileptic kids is to get them two years of seizure freedom.  Exactly two years is of course a somewhat arbitrary guideline (e.g., why not 1.75 years, or 2.5?) but it is a fairly ubiquitous standard across pediatric epilepsy.  If a kid can go two years seizure free, there is (statistically speaking) a very good chance he or she will remain seizure free, even off of anti-epileptic therapy.  But this two year goal has a funny affect on parents: when you are in a period of seizure freedom, you fear not only the return of the seizures for the sake of your child’s well being, but also the “restarting” of the clock.  It’s the boulder of Sisyphus tumbling back down the mountain.  Each week, each day, each hour of seizure freedom is so hard-earned.  There is so much energy and work and stress invested in getting to that two year goal.  To have it start over can feel like such a defeat.

But for keto kids, the expectation from the start is that they will be on the diet for only a finite amount of time.  A typical course of treatment is 6 months to 3 years, depending on the age of the child, the efficacy of the diet and the cause or type of epilepsy, if known.  Also, most keto kids are on the diet for the very reason that they have not had complete success with drugs.  This all comes together to make a more fluid and complex treatment timeline than the “two years of Keppra and you’re done” route that some kids take (to paraphrase our first pediatric neurologist).

So our plan for now is, in the event of breakthrough seizures: hold the course to see if it is just a transient (e.g., diet administration error).  If the seizures persist, increase the ratio.  If the seizures still persist, try Lamictal.  (Honestly it would feel like a major setback to put her back on a drug, but it does comfort me a bit to learn that Lamictal is not too bad.  It has a rare but severe reaction you have to watch for initially, but otherwise it seems people tolerate it well.)  It is comforting to know we have a reasonable plan in place in the case of a relapse.

The doctor said another interesting thing: that there are not many kids in the world like Nora.  There are not many kids that have drug resistant myoclonic seizures without accompanying cognitive and physical problems.  It is a bit of a mystery, but after so much bad luck with Nora, we are grateful for this bit of good luck.  In fact, the doctor said he would consider further genetic testing on Nora and compare her with the very few other kids like her to see if there is some common genetic cause for their unusual course.  I also wonder if Nora benefited from getting her on the diet quickly.  Perhaps she would have developed more cognitive and physical problems if we chased her with drugs for years before turning to the diet.  In an interview with Jim Abrahams, he laments this: that although the diet was miraculous for his son, he wishes they had known about it sooner in the course of his treatment.

Hopefully as the medical community learns more, they can quickly identify metabolic therapy candidates and get them on it right away, instead of turning to it as a last resort after years of seizures and failed drug cocktails.  There is some advancement on this already.  In some epilepsy centers, the ketogenic diet is the first line of treatment for a very serious and severe form of epilepsy known as Infantile Spasms:  http://www.hopkinschildrens.org/tpl_news.aspx?id=5324 and http://www.youtube.com/watch?v=_1Jia_2HAp0.  In this type of epilepsy early diagnosis and treatment with the ketogenic diet can effectively “cure” the epilepsy.

Let me reiterate that we advocate the diet assuming it is the right therapy for a given patient.  In many cases, modern drugs will provide good control and effective treatment.  We advocate the increased acceptance and use of metabolic therapy for patients that are good candidates for success, and that doctors consider trying it earlier in the treatment, instead of as a last resort.

Back to Nora though: we are ecstatic to be where we are.  One year ago, Nora was having many seizures from week to week, and I was a wreck.  But we fought and pushed and although much uncertainty remains, we have come so far.

Here is her updated chart.

Seizure free for almost 6 months.   Diet ratio was nominally 3:1 from Jan 2012 through April 2012.  It has nominally been at a 3.5 ratio starting at the end of April; we have not recorded the actual daily ratios.