I got a call from the geneticist and no gliomas were seen!!
There are some brain lesionss but I dont know significance yet. This may be a mitochondrial optic neuropathy. If so, there isnt really a "treatment". Only to optimize the mitochondrial disease treatment with supplements etc.
Im having a very hard time with this. I have to be honest, I was hoping it was something treatable, even if it meant gliomas. We knew we were likely looking at a couple causes - gliomas or the metabolic/neurological. How sad is that to hope for tumors.
We are in disbelief with the MRI findings as his vision loss is profound...going from normal to this. Pale optic nerves and no glioma! wow
Myself and and 2 other boys have no ONA with the Mito. but Evan does? and it's not NF related? Very confusing or maybe just denail?
I wonder if there are any reported cases like this in NF in someone who does not have a second genetic disorder such as mitochondrial disease? If so, it might help tie the ONA to the NF and potentially a treatment?
Cindy... do you know of any such reports?
Could growth hormone deficiency cause it? He has an endocrinology appt coming up because of an abnormal random GH level and given the fact that he hasnt grown in forever, he may have a GH problem.
I forget to check the site sometimes. If anyone has any insight and would like to email me privately, I'd greatly appreciate email@example.com