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Should I be tested?

andypandy110
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After an MRI revealed a tumor on my L5 (spinal cord) I immediately had it removed which was about a month ago. My surgeon was convinced that by the looks of the tumor that it was cancer but said we had to wait for pathology. After being sent to three different pathologist they determined that it was a hemangioblastoma (benign). When I met with my surgeon he basically told me that he was going to refer me to an oncologist because I would need to be screened periodically. He mentioned that my kidneys and other organs should be screened and that the oncologist would be who I would follow up with and that he would only continue to monitor my brain and spinal cord. He really wouldn't go into too much detail because he said although a neurologist, he is essentially only an active surgeon at this point. However, I still wanted his opinion and asked if whatever is going on with me could effect my life span. He said other than the fact that yes you always take a risk when multiple surgeries are needed, etc, etc, that for the most part this would just effect my quality of life. Because he had mentioned that the tumor could come back and not just in the original spot but in others, I asked if he suspected that it could be VHL. He said that he wasn't knowledgeable or up to date enough on the disease to give an opinion. But that of course its a possibility and something the oncologist would follow up with as far as ordering testing.

The oncologist I saw is the chief of oncology so I felt confident seeing him. That feeling soon disappeared after arriving. The doctor whom was sent in first, who was not the referred doctor, started to speak of the cancer I had. I immediately stopped her and told her that I didn't have cancer. I thought for sure she had just miss spoke, however she was adamant that the tumor was malignant. I convinced her that she needed to call pathology and double check. When she returned she was joined by 3 other doctors. The chief oncologist immediately told me that I had a benign tumor however no one ever mentioned or apologized that the previous doctor had just told someone they had cancer when they didn't. He went on to say that I had a very rare tumor, especially considering the location. I asked if he had ever treated someone with a hemangioblastoma of the spinal cord and he said no. He went on to say that if even one cell was left behind from the tumor that there is always a chance that the tumor could regrow. And that he would continue to monitor the area every six months for regrowth. I was confused because my surgeon was already going to follow that, I was more concerned with the possibility of other tumors and exploring possible explanations for the spinal tumor like VHL. I had told him that earlier this week I had met with my hematologist whom is also a oncologist and he had suggested that radiation would likely be a course of action to make sure it doesn't regrow. The chief oncologist said that he had spoke to radiology and they didn't think that radiation would be beneficial and because this tumor is so rear there is no study that can say that radiation will even be helpful. I asked if he was going to check other areas and organs for tumors and he said no, that I would only have tumors in other places if I had VHL. And I said, so are we going to test for VHL and he said no if no one in your family has it and your not showing any symptoms then you don't have it. Call me stupid, but I thought the hemangioblastoma on my spinal cord was a pretty strong symptom. I said should we be looking else where for other tumors and he said no that if I wasn't showing any symptoms I didn't have any reason to believe that I had a tumor else where. That didn't make sense to me when the tumor I had was actually very large, and had been there for quite some time, however I didn't feel anything until about 3 weeks before I had it removed. I said I didn't understand why we would just sit and wait for something to happen. He responded by saying that every person has a different threshold for playing the waiting game and I will just have to see who strong mine is. And ended by saying that it wouldn't be beneficial for me to know if I had VHL because there is no treatment or cure. That put the topping on the cake. To tell a single person with no children that it wouldn't be beneficial to know is ludicrous to me. This type of diagnosis could be detrimental to how someone plans there future. I should have known that he wasn't going to be able to offer me anything of substance when both doctors I spoke to said that they had to look up the tumor I had before I came in.

So, here is my confusion. First and for most, am I jumping to conclusions to want to be tested for VHL? Is the doctor right and there is no sense in screening for other tumors if I present healthy? Should I see another oncologist, or do you think this will be the typical response? Would it be more beneficial to see a neuro-oncologist. Has radiation been beneficial for anyone else?

Its unfortunate that this has to be considered, but if insurance doesn't cover, how much does this type of genetic test cost.

Thanks for listening, sorry about the long post, but any response would be appreciated. Oh, and thought it might be important to mention that I am a 25 year old female.

Andrea

P.S. has anyone had a hemangioblastoma on there spinal cord?

Explore topics in this discussion:

Cancer Confusion Astrocytoma Hemangioblastoma

5 replies

TinaDiane

Hi Andrea,
What a terrible story!! I have several hemangioblastomas on my spine. They are small and I am not having any symptoms. I found out I have type 2 B VHL 2 years ago. I had a bilateraladrenalectomy 22 years ago due to pheochromocytomas. I moved 2 years ago and my new endocrinologist said "Lets do genetic testing" and sure enough, it came back as VHL. Now, I get screened every year (MRI/CT scans) and if anything changes, I can take care of it.
I strongly feel you need to get genetically tested.
If you have VHL, you can get the tests you need on a yearly basis. Get the VHL hand book and read it.
Education is the key.
I am in the medical profession and there are jerks every where in every profession.
Good luck!!
Tina

joyceg98

Andrea, you are terrific! You are doing exactly the right thing.

This is a good example of the compartmentalization of medicine these days. It's kinda like -- would you ask your plumber for his advice on your roof? Or ask your garage mechanic to fix your refrigerator? Yes, they are some what similar, but do the understand the nuances?

Likewise, a neurologist and not a neurosurgeon. In VHL we usually deal with neurosurgeons, because it's a structural problem, not a problem with the messages not going from one end of the nerve to the brain. Neurologists can be helpful in making the diagnosis, but once you're dealing with the tumor, the neurosurgeon will be more helpful.

VHL is in a category of diseases called familial cancer syndromes. So technically it is a cancer (cell growth out of control), but hemangioblastomas don't metastasize. Oncologists deal with metastatic cancer, and usually deal with the drugs that can restrain the spread of cancers.

What you need here is a geneticist, preferably one that specializes in "familial cancer syndromes" like breast colon, and other cancers that also can run in families. VHL is caused by a genetic alteration, so yes, you should be tested for this alteration to determine whether you carry that alteration. The test generally runs about $1200 for the first person in a family to be tested (or $250 for the second person). Insurance may cover it, especially if one of the doctors will write a letter of medical necessity. This will be important information in managing your health.

Here's the insurance argument. If we don't know for sure whether you have VHL, then for at least the next few years you should have all the test recommended in our screening guidelines, to make sure you don't have other VHL tumors lurking in your body. That's several thousand dollars worth of scans.

If you don't carry the VHL alteration, then the need for those scans diminishes. I would still do one full set of tests, just to see what is there now, because in some cases the DNA test will not show the VHL alteration in the bloodstream, but it could be there nonetheless (mosaicism, which is rare but not unheard of. There is a separate discussion about this). If VHL is known to run in your family, then mosaicism does not apply.

Please go to our website and check out the list of VHL clinical care centers, and make an appointment with a geneticist at one of those centers. These people are familiar with VHL. If you are not near one of those, go to the nearest large teaching hospital and make an appointment with a geneticist, especially in cancer genetics. AND make sure they send your blood to the DNA testing lab in Philadelphia for testing, as there are some special tricks that not all the testing labs know about to find some of the more rare VHL alterations, one of which causes brain and spinal tumors but little of anything else, so there is a possibility you might be in that category.

And keep up the good work! You are doing a terrific job of advocating for yourself. Don't hesitate to ask for a little coaching here and there. We are here for you.

Best wishes,
Joyce

andypandy110

Thank you Tina and Joyce. To be honest in those two posts I learned more than anything I was told in that appointment. I'm not even accusing this doctor of being a "bad" doctor, just not informed. I'm sure he's amazing at dealing with common cancers like breast, colon, skin, but I just wish he would of been honest and said I'm not that knowledgeable on this disease why don't I see if I can refer you to a colleage.

Anyway, that is behind me. I believe I will get the genetic testing done now. I wanted it from the first time I heard of the disease, but didn't know if I might be looked at as a hypocondriac since I only have had one tumor. But when you think about it I have nothing to lose.

One of the main reasons I suspected VHL is because my sister was diagnosed with a mild case of MS. There calling it mild because at the time of her last MRI, which was 3 years ago, they only found one lesion, as oppose to the 2 they require for a full diagnosis. However, if you look at the symptoms of MS, plus all the other problems she has like virtigo, it wouldn't shock me if it was VHL. Again, completely jumping to conclusions, but I strongly feel this is a possibility. I also found an article that said it was unheard of for VHL to be misdiagnosed as MS.

Can one of my parents have passed the gene on to me, but show no signs themselves of anything being wrong? Can someone have VHL but not have a tumor?

So, now should I just go for geneticing testing or should I have someone order a CT scan also? Maybe wait for genetic results, then worry about looking for more? How long do results typically take?

I live in Southeast Michigan so if anyone has any insight on docs or testing in this area that is appreciated. I will look on the website as well.

Thanks again everyone.

Andrea

TinaDiane

Hi Andrea,
There are four kids in my family and I am the only one that has VHL. My siblings were tested last year and they are all negative. My father is 85 and has not been tested but has no medical problems and is in perfect health. My mom died at age 36 of a brain tumor. They said then it was an astrocytoma but who knows? She came from a large family and none of my aunts, uncles or cousins have had any medical problems that sound like VHL. Of course, none of them have been tested!
My genetic testing took about 2 weeks to get the results. They had to send the blood to Boston University. If I were you, I would consider having the genetic testing first. If you have insurance, they often need a diagnosis code to pay for the scans. They are very expensive. My MRI 2 years ago was $10,000, (Thank God I have insurance). Even with insurance, this year I had to pay $600.00 for my MRIs,
and CT scans, and $100 for my retinal scan.
Good luck and let me know if I can help any more,
Tina
ps I grew up in Battle Creek, MI, you could check with University of MI, Mayo Clinic, or the VHL Alliance
Web sight.

joyceg98

Your hypothesis is as good as anyone's at this point. What you need now is DATA to figure out whether this is true or not. How best to proceed?

My rule-of-thumb is that if there is a symptom or a real medical issue to be dealt with, that always comes first. Don't wait for genetic testing before addressing a real medical issue.

Genetic testing can be done second, or even in parallel with the medical procedures. It is helpful and informative in making the medical decisions, but should never hold things up.

Could your sister's MS really be VHL? Possibly.

Could the two of you have inherited a VHL alteration from a parent who shows no symptoms of VHL? Yes. I wager there are folks in this list whose child or children were diagnosed before they were. We have a number of people whose child or children (or even grandchild!) were diagnosed first, and it was only when the geneticist investigated the parents and grandparents that they found that Grandma, age 83, in fact had a very small brain tumor and a DNA diagnosis of VHL. So yes, it does happen.

Take it one step at a time. It may or may not be true, but especially with all these clues it is worth investigating.

All best wishes,
Joyce

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