NKX6-2 The Gene causing all the problems
NKX6-2 is the gene tied to the health issues to our two boys. We as a foundation over the next few weeks will be adding a page to our website with some information and research into this gene. It is the rarest of rare gene variants that cause this leukodystrophy that is still unnamed and undiagnosed. Through research and work with our Neurologist at Strong Memorial in Rochester, and CHOPS research hospital in Philly, and Columbia University hospital in NYC, and many others articles have been published in medical journals to get more research on this issue.
To date through hospital collaboration we have identified two other families in the WORLD that have children with the same variant/damaged gene. One family lives in France, the other in Italy. However we have been told that the siblings that had the disease much like my boys, one of them has passed away already. So we will work diligently to get as much as we can out there on a new research page right here on our website.