Anyone Familiar with Von Hippel-Lindau Disease?

Does anyone on ATS have experience or knowledge about Von Hippel-Lindau Disease? It is a rare genetic disorder that results in tumors and cysts growing in multiple organs in the body (they can be cancerous or non-cancerous).

I'm asking for a loved one. They do not have a family history (that they are aware of) with "VHL" disease.

From the 3rd source I found this:

Those without a family history must have two or more CNS hemangioblastomas, or one CNS and a visceral finding (with the exception of epididymal and renal cysts) to have a diagnosis.

If it turns out that they have it, the good thing is the doctors discovered it early. Any personal experience or input about this would be greatly appreciated. Thank you in advance.

US National Library of Medicine: link

Wikipedia: en.wikipedia.org...

Here is another resource I found with some good information: www.encyclopedia.com...

a reply to: FamCore

Here's another resource I found with some helpful information: www.orpha.net...

I have four family members with this awful disease...it's so rare, except within family lines, I actually wondered if I knew you?

I know Johns Hopkins in Maryland is a great resource, and have preformed several of the more than 12 combined brain surgeries. Honestly, there have been so many, I think I may be understating. Also Duke hospital.