Today I got more bad news, but I had to do our income taxes when I should've been spending time with Bertrand! :'( I have never resented the IRS more in my life. This has probably been the lowest point in my life--to date.
Even though I spoke with Dr. Samson-Fang today, you'll excuse me if I don't go into detail. The short of it is that she'll forward his records to Dr. Kurtzberg and that Dr. Longo is taking the lead with isolating a diagnosis.
I also received an email from Dr. Sakonju which has me a quite a bit down despite its thoroughness. Basically, Bertrand could have an even *less* treatable disease than LSD called Alper's. Here's what she wrote:
I did get this message but it is not a simple question and will need a little more time to look at his labs.
The ATM gene was indeed negative. We have not gotten any spinal fluid to do the CSF lactate (I don't think he's ever had a spinal tap). The leukocyte lysosomal test (oligosaccharide testing) needs to be followed up with specific testing. I don't think he has ALD, Krabbe, or MLD -- these usually present differently and brain MRI usually shows a demyelinating pattern: we would need to repeat imaging, but I don't think this is indicated quite yet, but we could go forward with this. As for GM1, Tay Sachs and mitochondrial testing, the former two are still possibilities--metabolic clinic can help with further testing for these. A serum lactate can be elevated and if so, is helpful, but oftentimes is normal even in the mitochondrial diseases. A serum lactate can be checked easily with his next labs, but we were already thinking he may have a specific mitochondrial syndrome known as Alper's disease and there is specific gene testing for this. Either way, the diseases to test for all have no cures and are generally speaking neurodegenerative disorders that tend to progress. Some families will still want to pursue a diagnosis which will help with knowing more about what lies in the future and so forth. I will respect your wishes and will try to do the best we can. I would recommend seeing metabolic clinic first, and I will email Dr. Longo with our concerns.