Re: Genetic Testing

This past Thursday we learned the results of our daughter's genetic testing for Von-Hippel Lindau Disease. It is with much grief that we report that she has taken after her daddy in this regard. She does indeed have VHL. Dave wants to post his own blog on this issue, and I will see that he does at a later time. As her mommy I have many worries and concerns, but I take comfort knowing that Dave is a productive and simply wonderful man and I have no reason to expect any less of my child. Things will always go wrong in life and there are no guarantees but I do feel guilty knowing that my child will already start out at a slight disadvantage. As her mom I can't help but feel responsible. The last couple of days have been a little difficult as we have come to terms with the news, but we both love and adore our unborn child and can't wait to show her the joys of this world and welcome her into our arms with love.

I am posting a very general description of VHL so everyone can get some basic answers to their questions.

The disease is caused by mutations of the Von Hippel-Lindau tumor suppressor (VHL) gene on the short arm of the third chromosome.

VHL is an autosomal dominant disorder, but there is a wide variation in the age of onset of the disease, the organ system affected and the severity of effect. Most people with von Hippel-Lindau syndrome inherit an altered copy of the gene from one parent. As long as one copy of the VHL gene is producing functional VHL protein in each cell, tumors do not form. If a mutation occurs in the second copy of the VHL gene during a person's lifetime, the cell will have no working copies of the gene and will produce no functional VHL protein. A lack of this protein allows tumors characteristic of von Hippel-Lindau syndrome to develop.

Features of VHL are:
angiomatosis - little knots of capillaries in the retina and various organs.

hemangioblastomas - tumors of the central nervous system (CNS, especially the cerebellum, brain stem, and spinal cord).

pheochromocytoma - tumors of the adrenal medulla that often produce catecholamines

renal cell carcinoma - malignant tumors on the kidneys

pancreas - cysts and tumors of the pancreas, which may be neuroendocrine tumors. Can be visualised by CT scan.

Untreated, VHL may result in blindness and permanent brain damage; death is usually caused by complications of tumors in the brain or kidney, and cardiovascular disease secondary to pheochromocytoma. With early detection and appropriate treatment, there is more hope today for people with VHL than ever before.