vhl or something else

I was diagnosed with vhl almost four years ago. No one else in my family has been diagnosed with vhl. One of my brothers has been pretty sick lately and I'm wondering if he might have vhl. He had pancreatic cysts removed a couple of years ago and he has a cyst on his right lung. I suggested he get tested for vhl since his insurance would pay for it. The blood was sent to John Hopkins and came back negative. That was last year.
A few weeks ago he had an epidural for pain in his neck. He has swollen discs in his neck. He said that it helped for maybe one day. He was in so much pain on Sunday that I took him to the ER where they gave him some pain medication and released him. I suggested that they run some tests and they refused.
He has symptoms that worry me, so I went to his doctor appt. with him yesterday. His doctor completely dismissed his concerns and said that he would wait a few weeks after the 2nd epidural (on his neck) to see if it worked. I urged him to change primary care docs which he did. We go next week.
In the meantime he has these symtoms: He has dizziness and pain in the back of his head and across his forehead. He has pain in his right abdomen, especially when he takes a deep breath. He has pain all the way down his back. (He has convinced himself that he has prostate cancer because he has to urinate 20 times a day and he's having difficulty urinating. He was told he has an enlarged prostate.) Is it possible the bloods test results were inaccurate? I haven't been able to convince any docs. to run some more tests. His primary care doc. told us yesterday, "I'm not going to order MRIs from head to toe." I told him I had vhl and that it is genetic. He wasn't impressed. I'm very frustrated. I feel like my brother is going through the same diagnosis hell I went through four years ago when I was trying to convince someone that I had a brain tumor. Any ideas?

Thanks,
Kathy

By mkj
Posted July 9, 2009 at 8:02 am
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Holy cow, where do you live? Our son was having headaches and his family practice doctor noticed a twitching in his eye during a minor test she conducted to determine the cause of the headaches. She ordered a CAT scan of his brain and they discovered a tumor on his cerebellum. I am surprised that your doctors are not being more cautious and actually fearful that they might possibly be missing a potentially serious diagnosis.

Can you have VHL symptoms and still have a negative test result? Yes, our son was tested twice and they were both negative. He has had five surgeries on his central nervous system and he is going to have another one today. As always, our family is filled with trepidation as to what will happen during yet another surgery, but we can only hope for the best today. Your frustration comes from not even knowing what needs to be treated. You very well may have to find someone who is more familiar with VHL.

By rocksea
Posted July 9, 2009 at 11:40 am
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I am curious -- when you mention tests, do you mean genetics tests? My mom has VHL and my brother and I had genetic tests done. They were negative for the VHL gene. Should we be tested again?

By katmine
Posted July 9, 2009 at 1:23 pm
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Thank you for your replies. We live in Reno, Nv. Rocksea- Yes you should get tested again. Have the lab send the bloodwork to
Dr. Catherine Stolle, Genetics
Children's Hospital of Philadelphia
Abramson Research Center 1106F
34th and Civic Blvd.
Philadelphia, Pa. 19104

The info is listed on p. 83 of the vhl handbook.

My brother didn't have this info. at the time he was tested.
mkj, my prayers are with you today that your son has a speedy recovery.

By joyceg98
Posted July 9, 2009 at 8:39 pm
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Did they have your DNA results when he sent in his blood? If so, this test is extremely reliable, and Johns Hopkins is a very reliable testing center, so I would tend to believe the results. However, if they were sequencing the whole gene without your "road map", there might be some room for error.

I hope you find a doctor to help review all his symptoms carefully and with an open mind. It might not be a brain tumor, especially in light of the urinary symptoms. Keep working on finding a good doctor to help you through the diagnostic process, and meanwhile, keep a log of all symptoms, all medications, every time he urinates, and I would monitor his temperature too. This data should be helpful to the doctor in getting to the heart of the problem.

Best wishes,
Joyce

By katmine
Posted July 10, 2009 at 10:25 am
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Joyce,

I've never been tested because my insurance won't pay for it. I don't have any children, so I haven't pressed it.

They finally did a cat scan and MRI yesterday. Finally, I convinced the hospital. The doctor in the ER didn't know how to interpret the results and I'm a little confused.

The report reads, Multiple Cerebellar Lesions, including cytic lesions within the right cerebellum with mural nodular enhancement and small nodular enhancing lesions within the left cerebellum. These may represent multiple hemangioblastomas. (No kidding!) Multiple pilocytic Astrocytomas and atypical infection are in the differential diagnosis.

I'm not sure what the pilocytic astrocytomas are or what the atypical infection is all about. Maybe someone out there has had a similar experience and can tell me what kind of treatment we should be looking at. Or what kind of treatment was successful.
Thanks,
Kathy

Thanks,
Kathy

By joyceg98
Posted July 13, 2009 at 10:34 am
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Sounds like VHL to me, but we should get an expert to look at his scans.

Once we get past this urgent situation, we should analyze the DNA testing and find out why it did not find what seems clearly to be VHL.

The best way to approach DNA testing is FIRST to test the blood of the person in the family who has a clinical diagnosis of VHL. That way they know this person has VHL, and we are pretty sure they will find an alteration.

If they do not find an alteration in the blood of this person with a clinical diagnosis of VHL, then either they didn't look hard enough, or one of the very rare occurrences is going on. WE STILL KNOW that this person has a clinical diagnosis of VHL. Sometimes people in this situation have been told that they don't have VHL, even though they have brain and kidney and whatever. That is not correct. They still have a clinical diagnosis of VHL. We do not know everything there is to know about DNA testing.

But hopefully they did find the alteration. This same alteration is being used as a template for copying the altered gene throughout the family -- everyone in the family who has VHL will have the same alteration. This is what I refer to as a "road map" -- now we know exactly where to look when testing people with no symptoms.

SECOND, using the "road map", we can now test others in the family. We know exactly where the alteration will be. We can go directly to that point on the gene and ask "does he, or doesn't he?" This is called a "direct test" and is highly accurate. Any competent DNA testing lab can do a direct test.

WITHOUT THE ROAD MAP we are taking a large chance. The gene will need to be sequenced from one end to the other to see if a misspelling is found. But notice that if no alteration is found, either the person does not have VHL, or the sequencing was not sufficiently thorough, or one of the very rare alterations is present. There is much more room for doubt here than in the direct test described above.

So in this case, I would suggest starting from the top:
(1) Katmine has a DNA test through Dr. Stolle's lab to locate the alteration.
(2) Her brother is re-tested.

It is not necessary for everyone to be re-tested. Most DNA testing is correct. There is an article on the web at http://vhl.org/dna If you are still concerned, feel free to call us and discuss it, 800-767-4VHL ext 1 or 4.

Best wishes,
Joyce

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