Angry family genes

My family has a huge history of Von Hippel-Lindau Syndrome which afflicts many family members, can cause tumors in the eyes, ears, pancreas, kidney, brain and spine. Roughly three-fourths of the affected family members have pheochromocytomas — tumors of the adrenal gland. It seems that I may have it as well.... does anyone know where I go, who I see and what I do to find out if I have it?

Thanks,

            Kineks

[Trevd77]

Hello.  VHL is caused by mutations in a gene on chromosme 3 of the human genome.  It is called a "tumor supressor gene" because, when it functions normally, the gene controls cells from becoming tumors.  But, if there is a mutation in the DNA strand of this gene, then cells can become tumors.  You inherit this gene from one parent, and it passes from generation to generation with a 50% risk for each offspring (you either give the gene without the mutation, or the one with it, in your egg or sperm.  It is not clear why some family members will have tumors in different organs despite having the same mutation.  Any doctor can order a DNA test for you to find the mutation.  One of the best labs is:  http://www.bumc.bu.edu/Dept/Home.aspx?DepartmentID=118
Once you know you what the mutation is, anyone in the family can easily be screened for that DNA change.  A member of your family who absolutely, positively has VHL should first be tested by sending a blood sample to the DNA testing lab.  His/her doctor can arrange this and insurance should cover the cost.  Once the mutation is known, it is fairly straightforward for you, or anyone else in the family, to send in a sample for a quick screen (since the mutation will be the same for everyone in the family).  You can even avoid giving the mutation to the next generation by using a technology called PGD . We used a lab in Michigan (Genesis Genetics) and have two healthy babies without VHL.  Knowing if you have the mutation (or not) will streamline your medical care.