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.