With Tears of Joy

We received a phone call from our genetics counselor today. She received the test results from the Children's Hospital of Philadelphia (where Lovebug's cell samples were sent to be further cultured and analyzed). Lovebug does NOT have Von-Hippel Lindau Disease! We are very excited and feel very blessed that the results came back negative.

This will still be a family journey, as Dave and Sylvia do have the disease, but it is so wonderful that our second daughter does not.

As a refresher I will post a short description of what VHL is:

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.