Just Learning about VHL

By NewtoVHL
Posted August 3, 2008 at 12:04 am · 27 replies
In Getting a diagnosis

This past week has been a whirlwind. Tuesday went in to the ER for some severe abdominal cramping and fatigue. An Abdominal CT scan detected a mass on each kidney and a mass on the liver and some lesions on the spine. Abdominal MRI said that the mass on the liver was a Hemangioma. My brother has Hepatic Hemangiomas and my mother was diagnosed about 6 months ago with a "blood vessel cluster" tumor in her brain. How do we go about finding out if we have VHL. Our son (age 18 now) was diagnosed with a Hydrocele of a testicle a year ago...could his be from VHL. Our daughter (age 21) is having a problem with dizziness and equilibrium problems the past month.
ANY HELP appreciated.
Still waiting on results of the Bone Scan. trying to decide if we do a PET scan next week.

27 replies

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Newest first

By NewtoVHL
Posted August 3, 2008 at 7:41 am

Correction on previous post.
Lesions are on T10 and T12.

By JenM
Posted August 3, 2008 at 10:46 am

I'm fairly new to VHL too. After my brother and I both had brain tumors removed and my mother had her pancreas removed due to cysts and a blood vessel cluster tumor removed from her neck we were asking, "what else can happen to our family?" We asked to see a genetics specialist and a year later finally got to see one. She immediately knew it was VHL and sent us for testing. A blood sample was sent to Philledephia and we had results in about a month.

Although VHL is not nice to have, we were relieved to finally have a reason for everything that was happening. Now other members of our family are getting tested and we get yearly scans to catch any cysts and tumors early.

The symptoms your daughter is having sound like how I felt when I had a tumor on my cerebellum.

I live in Canada so I don't really know how you can get tested where you live. You could ask your family doctor or someone on this site may be able to point you in the right direction. Good Luck.
Jen

By Melbeth
Posted August 3, 2008 at 12:27 pm

I think you all should definitely be tested for VHL. All you have to do is go to your PCP and get him to order the genetic testing, or he will probably refer you to a geneticist. Then they will arrange for you to have the blood drawn and they'll send it to the proper lab. Mine was sent to Boston University Medical Center. It was very easy. You may have to get preauthorization from your insurance co. first. All of this stuff sounds very VHL so I'd get on it soon so that everyone can have the best chance for a healthy life! Early detection is huge with VHL. I wish you all well!

By joyceg98
Posted August 4, 2008 at 10:13 pm

There is a list on our website of the Clinical Care Centers. See if there is one near you. Those are places where you will find physicians with experience with VHL.

Yes, there is a possibility that these symptoms could be VHL. A hydrocele is a possible misdiagnosis of an epididymal cystadenoma of VHL. If it's VHL, the hepatic hemangioma is usually not a major issue, so that would be a good reason to wish it's VHL.

If you need help finding a physician, feel free to call the office 1-800-767-4845, ext 4.

Best wishes,
Joyce

By NewtoVHL
Posted August 4, 2008 at 10:32 pm

We appreciate all the responses and suggestions. We will meet with one doctor tomorrow and one doctor on Wed....I even had the chance to speak to Catherine A. Stolle, Ph.D. Director Molecular Genetics Laboratory
Children's Hospital of Philadelphia. She gave me good information and good questions to ask. She also recommended the VHL.org site too.

I have told 2 doctors I wanted them to look into VHL to get their idea about testing.

I appreciate you all.
Kayla and Joe

By joyceg98
Posted August 4, 2008 at 10:59 pm

Sounds like a plan! Please let us know how you make out.

Best wishes,
Joyce

By NewtoVHL
Posted August 17, 2008 at 8:37 am

I want to thank everyone for the comments and suggestions. We are proceeding with the partial nephrectomies. The right kidney will be the first surgery scheduled for Sept 3rd. We are having it done locally with 2 urologists present for the surgery. I have had a doctor in Chicago review the reports to and he agrees with the recommendations. We will probably have the histopath done up there instead of here locally, I think their labs have more specialized formats. He did suggest testing for a Pheo prior to surgery since hypertension is a problem. He did also suggest a kidney function scan. I will call our local doctors to see about getting them both ordered.

Thanks again to everyone.

By joyceg98
Posted August 18, 2008 at 11:38 am

Sounds good. I hope everything goes well with the surgery. We'll all be cheering for you!

Best wishes,
Joyce

By AlexAnderson
Posted August 21, 2008 at 1:25 pm

Good luck.

By Kristel
Posted August 21, 2008 at 6:13 pm

Good luck with your kidney surgery. Make sure they try to keep as much of your kidney as possible, You are going to need it if you have VHL. It really sounds like you could have it.

Try not to get too overwhelmed. It's a lot to deal with when you first get diagnosed and there are many manifestations to take care of but it slows down after a while and it's more screenings than surgeries.

It gave me chills when I read your post. It sounds a lot like my family eight years ago. You will get through it and it does get easier. Good luck.

By NewtoVHL
Posted August 21, 2008 at 6:22 pm

Thank you Kristel. We will keep you all posted on what we find out from the histopatholy done on the tumors removed.

Our urologist wasn't sure we really needed to run the test for the Pheo but said he would to put my mind at ease. So now we have to figure out when we can do a 24 hour urine test that will fit into schedules.

By joyceg98
Posted August 22, 2008 at 10:26 am

That 24-hour urine test never fits neatly into schedules. Perhaps some of the others here can give you hints.

You can carry the jug (and "hat" for women) in a backpack with some ice packs to keep it cooled, and cart it around with you.

Do it any day except Friday or Saturday. You need to deliver the completed jug to the lab early morning on the day you finish (Monday thru Thursday). If you drop it off on Friday they might hold it over the weekend, and that will not give the most accurate results.

If you are keeping the jug in the fridge at home, maybe put it into a brown paper bag and mark it "not edible". Remind folks that it's not apple juice.

I would probably not put it into the fridge at work at all, just rely on ice packs to keep it cooled.

Other ideas?

Best,
Joyce

By joyceg98
Posted August 22, 2008 at 1:11 pm

I've decided to do my presentation "VHL 101" as a webinar on September 24, 2008, at 8 pm Eastern / 5 pm Pacific time. If you would like to be invited to this "live" session, please send a note to meetingreg@vhl.org

If you have specific questions, you might send them in advance. If not, don't worry -- there will be time during the meeting to ask questions.

The recording of the session will be available for replay after September 26.

I will post this also as a new discussion for people to propose other sessions that they would like to see.

Thanks!
Joyce

By gale
Posted August 23, 2008 at 10:28 am

When I do it at home, I line (plastic bag) a doable trash basket (small) and put ice in it. I leave it in the bathroom.

Gale

By NewtoVHL
Posted September 7, 2008 at 8:09 am

I know it's been a while since I posted...this is what has gone on since then.

Pheo test was negative.

First surgery was done Sept 3rd. We were expecting the right kidney to be operated on first but they reviewed things the day before surgery and decided that the left one was going to be the easiest to access.

Surgery took about 2 hours and the doctor came out and said things went well. Joe only lost about 200cc of blood, the doctor seemed surprised and pleased about that.

Joe was surprised by the size of his incision...but I assured him they only cut open as much as they had to.

Still waiting on the pathology report. Dr came in yesterday (Saturday) with hopes of having the report. He said he was wondering if the lab was having a hard time coming to a decision. The doctor said that on the frozen section they did in the OR the were wondering if the tumor could be an Oncocytoma. We may have to have this sent 1 or 2 other places to find out for sure. Second surgery not scheduled yet until we find out.

Joe is home now and doing well....A little more pain since he is up moving around more than he was in the hospital.

Any suggestions??

Kayla (Joe's Wife)

By joyceg98
Posted September 7, 2008 at 3:10 pm

Delighted to hear that things went well! Yes, those "shark bite" incisions are pretty long. But they evidently needed to get a wide view in order to do a good job.

Yes, do ask them to send it to a place more expert in VHL -- like Cleveland Clinic or NIH (Dr Linehan's group) or Beth Israel in Boston (Dr. Sabina Signoretti). The pathology from this tumor will be important in getting an accurate diagnosis and determining the best treatment plan going forward.

Best wishes,
Joyce

By NewtoVHL
Posted October 11, 2008 at 3:38 pm

Ok it's been awhile since I have posted. Joe has had both partial nephrectomies and is 3 weeks post his second surgery.
Pathologists locally said
tumor #1 Oncocytoma
tumor #2 Renal Cell Carcinoma(not sure what type they thought it was)
University of Iowa Pathologists said
Tumor #1 Chromophobe Renal Cell Carcinoma, and Tumor #2 Clear Cell Renal Cell Carcinoma
So this changes things a bit. We are also looking at a BHD (Birt Hogg Dube') I will let you all know what we find out.

By joyceg98
Posted October 13, 2008 at 11:47 am

VHL renal cancers are "clear cell renal cell carcinoma". With this mix of types of kidney cancer, the likelihood is that you are dealing with Birt-Hogg-Dube syndrome instead.

Glad to hear you are on the trail of BHD. Be sure to look up the Birt-Hogg-Dube Family Alliance. There are excellent urologists in the Chicago area, so any one of the major hospitals there should be a good choice. Cathy Sherman of the BHD-FA is a great resource as well.

Best wishes,
Joyce

By NewtoVHL
Posted October 13, 2008 at 12:42 pm

Yes Joyce, that is what we thought. Cathy Sherman and I have been emailing back and forth since we found out about BHD as a possibility. She has been a great fountain of information.

Thanks again for helping us with all of this.

Kayla

By Jankster
Posted October 20, 2008 at 11:13 pm

How can I access this seminar? Is it still available? Thank you

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