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On a beautiful sunny California day, 146 people gathered in the Fairchild Auditorium, at Stanford University to talk about von Hippel-Lindau disease.
There were 20 physicians, 6 nurses, 2 genetic counselors, and a physician’s assistant. The remainder were people with VHL, their families and friends. Nearly half (67) were from California. Ten people were from Canada, two from England, and one physician came from Colombia in South America.
"I was astonished," said Raeanne M. of California, "to be in a room filled with people who have the same surgery scars that I do! Where else could I find so many people like me? This was my first conference and it exceeded my expectations. Meeting people was great. And, I also got to meet and directly question the top doctors and scientists in the field of VHL intervention and study. Too bad you missed the lecture on killer ubiquitin chains! They are working on developing drugs that will intercept and hopefully correct the errant cell biochemistry on at least four levels."
Dr. Michiel Innes, a geneticist from Alberta, Canada, commented that he "enjoyed it tremendously. As a geneticst I often find myself playing the role of case coordinator and patient advocate so hearing and learning so much from a patient perspective was very rewarding. Things have already paid off as two days after my return I saw a woman in my general genetics clinic who almost certainly has VHL and I certainly felt prepared!"
Hetty DeVroom, clinical research nurse for Dr. Oldfield at the U.S. National Institutes of Health, reported on the VHL Clinical Program at NIH which has now seen nearly 800 people with VHL. She presented the screening protocol they recommend to local physicians. Joyce Graff explained about the VHL Clinical Care Centers program, which helps to carry information from the expert centers, like NIH, out into the field.
Dr. Ronald Bachman, Chief of Genetics at Kaiser-Permanente Oakland Hospital, reviewed the genetics of VHL. Dr. Wayne Fung, Clinical Professor of Ophthalmology at University of California San Francisco (UCSF), reviewed the ophthalmological issues in VHL. He stressed the importance of careful screening, beginning by age 3 and continuing as often as every six months through puberty. "The smaller the lesion is when we discover it, the more favorably it will respond to treatment."
Dr. John Adler, Professor of Neurosurgery at Stanford and Medical Chairman of the meeting, explained Stereotactic Radiosurgery (SR) and where it is most effective. He stressed that the "gold standard" for treatment of VHL hemangioblastomas of the brain and spinal cord is still traditional microsurgery. However small, well-qualified lesions can often be treated with SR. Dr. Mitchell Berger, Chief of Neurosurgery at UCSF, explained the approaches used in microsurgery. The cyst must be drained when necessary to relieve pressure, but the cyst walls may be left in place as they are not the problem. The cyst is created by the tumor, so until the tumor is removed or treated with SR, it will continue to refill the cyst. He explained that the emerging field of brain mapping allows the surgeon to locate the areas of the brain that control speech and motor functions prior to surgery, and plan a surgical approach that will avoid these areas and preserve function. He went so far as to say that if surgery will involve the supra-tentorial area of the brain, that patients should "demand" brain mapping, which is now available at most large medical centers.
Dr. Randall Hawkins, Radiologist at UCSF, explained the state of diagnostic imaging, especially Positron Emission Tomography, or PET scanning. PET scanning allows us to see the metabolism of glucose or other substances by the tumors, giving the physicians better information about the activity level of different tumors. It is less useful at this time in the kidney, but can be a helpful adjunct to CT and MRI outside the kidney. PET scanning has become a great deal more available in the last year since it has now been approved for Medicare reimbursement.
Dr. Yasser El-Sayed gave an excellent talk on Pregnancy and VHL, which will be published as an article in a future newsletter. There are two primary areas of concern for women with VHL during pregnancy: pheochromocytoma and lesions of the central nervous system (CNS), or brain and spinal lesions. It is always best if the mother has been checked prior to the pregnancy, and any lesions requiring treatment have been appropriately treated. The reality is, however, that many pregnancies are not planned, and that many women do not have a diagnosis of VHL before the pregnancy begins. The more is known about the mother’s condition, the easier it will be for the medical team to monitor the situation and avoid critical problems. Communication is critical. "The patient must be a real participant -- counseling, consent, understanding of the ambiguities." There is some evidence that there may be progesterone receptors in VHL tumors of the CNS that may cause the tumors to grow during pregnancy, but the situation is unclear. Most women do not have good "before" pictures, so it is hard to tell how long the tumor had been there. It is also hard to tell whether the tumors grew because of the pregnancy, or because they were simply going to grow that season.
In his review of the literature, he finds that pregnancy should not be discouraged in women whose lesions are asymptomatic or have been adequately treated prior to the pregnancy. However it is extremely important to know what you are dealing with, and to make sure that the entire team is in communication.
Myriam Gorospe, Director of Research, announced this year’s VHLFA grant awards (see page 14).
Dr. Graeme Eisenhofer, Director of the Clinical Neurochemistry Laboratory at NIH, explained the test for plasma metanephrines which is a much more specific test for pheochromocytoma than the 24-hour urine collection. It can be very useful in identifying pheos which are less active, or which are intermittently active and therefore difficult to diagnose. It is easier to do, costs about the same as a 24-hour urine collection, and is a great deal more accurate. In addition to the results described in the VHL Family Forum, a second group in Austria has confirmed his results. There are still few labs doing this test. To have your blood sample tested, ask your lab to submit it to Mayo Medical Laboratories, 200 First St. S.W., Rochester, MN 55905 Tel (U.S.) 1-800-533-1710. His group has also been working with PET scanning using fluorodopamine, which is proving to be even better than MIBG in locating pheos.
Dr. Fabiàn Fonseca Guzmàn, urologist from Colombia, presented the work he did for his doctoral dissertation in Costa Rica on the diagnosis and treatment of VHL in the kidney. Dr. Oscar Salvatierra, Jr., Director of Pediatric Renal Transplantation at Stanford, explained the state of the art of kidney transplantation, and issues specific to people with VHL (see page 4).
Tom Rodenberg, attorney from Blue Springs, Missouri, gave an excellent talk on dealing with insurance companies, which will be published as an article in a future newsletter. His most important messages were "read your contract" (a policy is a legal contract) and "don’t give up!"
Dr. Robert Williams, Medical Director of the Gould Medical Foundation, talked about "utilization management" in the Health Maintenance Organizations (HMOs). In order to gain approval for scans or tests, he stressed that you need your doctor to write the right codes and justification for the tests. Without that information, the funder will probably reject the expense. But if the physician explains what is suspected, what they are looking for, or that this scan is essential in the responsible surveillance of this condition, then it should be approved. It may take some persistence.
Dr. Peter Jackson, Assistant Professor of Microbiology at Stanford, gave a very clear explanation of the state of our knowledge of the function of VHL in the cell. The VHL protein joins with elongin B and C to form the VBC Complex. This complex functions as a kind of garbage collector in the cell, marking a number of substances for deletion, similar to marking trees in a forest that should be taken down. This process serves as a kind of "off" switch for a number of functions in the cell, controlling those processes. Without functioning VHL protein, these cell functions cannot be turned off and go out of control. There are a number of very promising lines of research that will likely lead to drug therapies for VHL in the near future.
Debbie M. from Florida, found the meeting "wonderful and very encouraging. The conference is a must for anyone who has never had the chance to meet someone in person who is handling all the medical issues and the stress related to them with VHL and to see how everyone really strives to go in positive directions."
"What an experience it was meeting everyone at the symposium, and
how emotional!" said Sue L. from Canada. "When you think that
you are the only family faced with this disease, you feel so isolated.
Hearing the experiences of all the families that were there, you realize
that we were all in the same boat, and thank goodness for the VHL Family
Alliance."
This conference was supported in part by a grant from
the U.S. National Cancer Institute, Bethesda, Maryland.
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