[This is a reproduction of an email that I sent to family and friends on January 12, 2012. For previous history, see Nora’s Epilepsy Story and previous posts tagged “Nora’s History.”]
We went to Portland today with Nora to visit Dr. Wray, who specializes in the ketogenic diet and kids with tough forms of epilepsy.
He reported on the tests that we had done at the end of November. The micro-array came back normal, meaning that she has no chromosome deletions or replications. He was not particularly surprised by that result, because she is so normal otherwise. The other metabolic tests also came back normal, so she is using the energy from food in her body in expected ways. All good and normal.
Unfortunately, they did not submit the order for the more specific genetic test for a mutation in the SCN1A gene. I have not done much research on that, but as I understand it has to do with the body’s sodium channel. People with this particular mutation have a broad spectrum of outcomes, from never really developing properly from the start, to myoclonic seizures but otherwise normal like Nora. (Be careful if you look it up, because the devastating forms are the best understood. They are just learning about the milder forms now that genetic testing is more available.) They took blood today to get that test done. I will have to do more research to really understand what that would mean for her, but his basic perspective was two fold: (1) If she has this mutation, her seizures are explained and her long term treatment will be better informed, and (2) it doesn’t say very much about her long term prognosis; she could still develop normally to her full potential. He said that many patients with the mutation respond well to the keto diet, and even if she has it she could still grow out of the seizures. If the test comes back negative, then we are still where we are today.
And where we are today is pretty darned good. We’ve had about 1 week on the new formulation of her carb-protein-fat ratio. It has been easy to hit the targets every day, usually within 1 gram on each. Better yet, she has shown steady improvement all week and had a seizure-free day today. She is sparkly, sharp and witty when her brain seems to clear of the seizures, which is a delight. Dr. Wray was genuinely pleased to see her looking and acting so well. He had a resident following him around, and explicitly used Nora to show the resident what a “normal” kid is like in muscle tone, eye response to a test, etc. (compared to a kid that they just saw in the office, which is so sad to think about).
We talked about our modified-modified version of the diet, and he was happy to let us do it as we please if Nora is responding well. He said that with her higher fat intake, he is going to treat her like a kid on a keto diet and follow her more closely with testing, rather than the lighter testing they do with kids on the MAD diet. They took enough blood today to do some of those tests to make sure that her body is handling the diet ok. For her bravery, she chose a big stuffed ostrich, now named Ossy who is sleeping with her tonight.
We learned a couple of factoids about the diet that we wish we had known sooner, for example, it is extremely common to have seizures in response to constipation (the bowels are closely tied to the vagus nerve. One epilepsy treatment is to install a vagus nerve stimulator to regulate it, like a pacemaker for the brain). And gee wiz, it’s no surprise that this diet will make a person constipated! That seems to explain the last bout of seizures that she had last week. Now we know to prevent constipation before it happens with some gentle laxatives on a regular basis.
If we can keep everything going as well as it has this week, he said that he would consider taking her off medication in 3 months. We can communicate with him via email (and he wants Ted’s super database and graphs), so we don’t have to go back for an appointment for 6 months! Yippee!
We will keep in touch with the dietician as well to make sure that Nora’s weight is staying in the normal range. It is uncommon for kids to get overweight on this diet, and somewhat more common that they lose weight, so we will just keep adjusting her total calories as she grows. And she has grown a lot lately, and visibly has more meat on her historically lean frame. It’s kind of nice to see her filling out, she looks more like a typical 3 year old. Maybe this diet is more appropriate for her body’s needs in more ways than just seizure control. She certainly seems happy about it overall.
I hope this is the last update for awhile. If you don’t hear anything, assume that all is well. We will expect some ups and downs along the way but hope that we are on the right long-term trend.