Neurology Follow-up

A first! Today was the first of Bertrand's numerous neurology exams I was able to leave with a light spirit--or at least without a heavy heart.

Bertrand's neurologist was VERY impressed with his appearance at this exam--although this was his seizeiest day in two weeks probably due to his cold. First, she remarked at how big Bertrand has gotten (35.5 inches and 30 pounds) and quickly thereafter she got excited by how steady he's become and how great his eye contact has gotten. His neuropathy appears much reduced, his tone is now normal (yay!) and this was the first time she was able to get some of his reflexes!

She asked if we were having any problems with Bertrand's ketogenic diet. I said no, but we're dealing with constipation now and trying to find the right dose of miralax. The doctor said that her daughter is age two and a teaspoon and a half of daily miralax works for her. I asked her if she knew how many grams that was and the doctor started laughing! "You already sound like a keto parent!" I took that as a great compliment. ;)

Next we discussed Bertrand's EEG, which after a month on the ketogenic diet had minor improvements, but nothing drastic. She fully expects to keep seeing improvements over the next 6 months, and wants another EEG in June. We'll schedule it during our next neurology exam on April 1st. Anyone have suggestions for a fun April Fools joke for a neurologist? :)

December MRI-wise she also saw the white matter issue. If it were up to her, she'd get another MRI next December. The current loss has not progressed since April 2009, but she wants the University of Utah's leukodystrophy expert, Josh Bonkowsky MD, PhD, to look at it. I got excited! Everyone knows how much I love PhDs--the ones who treat Bertrand, not just my husband! Dr. Bonkowsky's clinical specialties are neurogenetics, language development, leukodystrophies and cortical development. "His clinical studies are focused on understanding the clinical features of novel leukodystrophies, and on the genetics of complex human neurobehavioral traits, especially language impairments." You don't get much more novel than Bertrand, so I have a feeling there will be a good fit. :)

Ever since we saw possible remote "ischemic insult" on B's MRI reading, the stem cell torch was rekindled. Now, Bertrand's white matter damage (leukodystrophy) is very symmetrical, which tends to reinforce the opinion that it's root cause is genetic, resulting in an ongoing metabolic process. Stem cells, in particular Bertrand's banked cord blood stem cells, wouldn't help this at all because the genetic fault causing the damage would be found in them as well. However, it is possible that Factor V is at play in Bertrand's family tree (Matthew's mother's embolism and my paternal grandmother's strokes), if this is the case then ischemic insult is a possibility and Bertrand's very own stem cells could help--no chemotherapy necessary, just a transfusion of his own blood. The stem cells simply know to go to the point of insult in the brain and repair. We saw Dr. Kurtzberg work miracles of this kind for children with stroke and cerebral palsey at Duke University.

Our neurologist at the University of Utah didn't shoot this wild theory down. She asked that we bring her the publications on this form of autologus stem cell therapy. If Bertrand's brain damage doesn't progress, or we can reasonably say it has stopped, his own cord blood stem cells may be back on the table as a very real treatment possibility. And we MAY be able to have it done at home in Utah!

Getting back to immediate treatment, however, Dr. Sakonju did mention adding more AEDs for Bertrand. The drug B would've started today is Klonopin. However, given that B had a significant Keppra increase 2 weeks ago, it'll be another month until we see it's full effect, so I didn't want to complicate the experiment by adding another drug. Furthermore, we'll be seeing the keto team in late February. I would like to tweak Bertrand's keto ratio (going to 3.5:1 and possibly 4:1) first before adding any additional medications. (Tweaking the diet doesn't cause side effects like sleepiness, rage, cognitive impairment or liver failure like adding another medication can.) This would give us a month to see the effects of an increased ratio before our April neurology follow-up where we'll readdress medication.

Lastly, of course we couldn't leave without discussing blood work. Bertrand does not present like a child with Dravet's Syndrome (he's had none of the requisite febrile seizures). His epilepsy seems to be a form of Myoclonic-Astatic Epilepsy (MAE) a.k.a. Doose Syndrome. In order to better treat either of these specific kinds of severe intractable epilepsy, and for the purposes of family planning, we'll start with testing Bertrand's SCN1 gene (for deletions etc.) and move from there. I promised Bertrand that he would get at least one month of 2010 poke-free, so we'll likely do that draw in late February, after our insurance approves the test, and grouped with the rest of his keto blood work.

PS - Bertrand threw a massive fit when we went by the lab to drop off his urine sample. He seemed genuinely shocked when they let him off the table without drawing blood. I was proud of him for being so smart, fiesty and having such good recall! You can tell I'm a special needs mom because I can turn my child's loud public bout of hysterics into a positive. :)