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.
Happy Birthday Miss Nora!
Happy birthday, Nora! I hope it was an extra special one. We will keep praying for continued seizure control as well as for NO kidney stones. Keep up the great work!
Happy Birthday, sweet Nora! Have you received any results from the Glut-1 testing? Jack is “suspected” glut-1, and he is going to be on the diet until 18. Jack’s bloodwork wasn’t consistent with the glut-1 mutation, but his spinal tap showed low levels of glucose in the spinal fluid. Genetic testing usually takes a gazillion years to come back, but keep us posted! Will be thinking and praying for Nora and your whole family. Sara
Hi Sara–no word yet on the glut-1 test. We did hear that the urine tests indicate that she is not getting kidney stones, so that is awesome news. When Nora had a spinal tap after her first seizure she had normal glucose levels (thankfully they were able to access that test and did not do another one). But her doc says that neither test is conclusive, so they will do both. She never had any of the gait problems, but he said that we might have caught it early enough by starting the diet so soon after seizures started. We will keep you posted!
Great! So glad they didn’t have to do another lumbar puncture. So scary. And great news about the kidney stones. I always have a fear in the back of my mind that Jack will develop a side effect that is so bad that we’d have to stop the diet and be back where we were. Which was not a great place. Also, Jack’s favorite thing is his keto pretzels. Thank you for the amazing recipes. I’m going to try the chocolate/hazlenut cookies next. Yum.