We had maybe the most uneventful neuro visit to date this morning. Dr. Awesome was pleased with Collin's development in terms of using his eyes, laughing, and being more alert. He confirmed that every genetic and metabolic test has finally come in (and we're talking an extremely comprehensive list, here) and that all are normal. His gut seems to be that something is structurally wrong with Collin's brain on a microscopic level, though whether it is purely due to the way it developed structurally or to some enzymatic deficiency, there is no way of knowing. He emphasized again that there is no way to accurately predict how Collin will develop in terms of tone, strength, language, processing, etc. I am far from a blind optimist in these situations, but I do take this as a good thing. Without anyone telling us what Collin likely will or won't do in the future, there is nothing to discourage us from pursuing every avenue within our power to increase his quality of life.
We discussed next steps, but couldn't come up with any tests we all felt were necessary at this point. Dr. Awesome feels like neuro imaging has not been of much help to us so far, because there is no direct correlation between structure and performance when it comes to the brain, but we will be repeating Collin's MRI and MRS this summer (at the same hospital and on the same machine to eliminate any disparities in quality that might make it difficult to compare results), but won't be doing any EEGs anytime soon. We will be preparing a report to send to a neurogeneticist at Johns Hopkins to ask for further direction and insights, but our basic plan of action right now is to monitor Collin clinically. We're going to let him show us the direction he's heading in by watching his behavior and development while keeping a tight rein on his seizures.
My personal immediate goals for Collin are to work on nutrition (we are in the process of moving him off of Ketocal formula and on to real foods, which will give me much more control over what goes in to his little body and hopefully will have many positive effects), improve seizure control (by adding branched chain amino acids to the ketogenic diet and hopefully weaning off of his final anti-epileptic drug), and really hammering intensive therapy through his NACD program. I have high hopes that these three things will help him become even happier, healthier, and more independent and interactive than he has already become recently.