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We are looking for frustrating stories about a delayed diagnosis of VHL, to help young doctors learn. Were you told it was something else, only to lose valuable time in identifying the real problem?
I would appreciate your sending story ideas to me at director@vhl.org
Thank you very much,
Joyce
Cancer Surgery Pain Back pain Allergies Depression Kidney cancer
My story isn't over yet, so I don't know how useful it will be to you...but four years ago, I requested a report of a CT scan from an unrelated procedure, and read about lesions on both of my kidneys. My obstetrician got that report, and almost didn't even share that with me...thank God I had requested a copy! So, when I inquired about them, he referred me to a urologist. That doctor told me that they were probably nothing to worry about, there are a lot of harmless kidney tumors, and I'm much too young to have kidney cancer. He decided that we would wait a year, take another look, and make a decision then. A year later, we did another CT, and they had grown and no longer looked so harmless. He then decided that although he was still confident that it wasn't cancer, he wanted to remove the first tumor and biopsy it. Three days before the scheduled DaVinci partial nephrectomy, at my pre-surgical appointment, my doctor notified me that he was no longer comfortable doing the procedure, that he wanted to send me to the University of Michigan for a second opinion. I go to see their doctors, who agree that this probably isn't cancer, because I'm just so young...so he wants to do a biopsy. He takes the biopsy, and CALLS ME ON THE PHONE to tell me it IS cancer! Then, tells me that he's scheduled me for a procedure called "cryoablation". (a whole other nightmare) He scheduled me for follow up in six months to talk about a treatment plan for the other kidney.
Six months later he told me that he's worried that we might be looking at another condition and sort-of explains VHL. He refers me to the Uof M Genetics Clinic, a referral which takes another three months to schedule. I finally get this appointment, get the test, wait two months for it to come back "inconclusive"...stating that I do not have a detectable deletion or disease causing point mutation"...but I do have "a C to T base change at the +8 position in intron 2 of the VHL gene" and "the significance of this change is unclear." There is only one other documented mutation like mine, and it was 13 years ago in Germany...with no follow up information available. I am so incredibly frustrated with this whole thing it's unreal, and no one in my network gets it!
I went to my family doctor for four years, complaining of headaches. I was told that it was allergies, depression, hormones, and all in my head (I was making myself sick, in other words). I don't know a lot of people who regularly have such intense headaches that they vomit and run into walls, but he thought I was making it up. I was only 20 and broke, so I didn't even know to go to another doctor or insist on any further searching. I finally met my husband, who, prior to our wedding, went with me to insist on an MRI of the brain. There was the brain tumor; I was in surgery three days later. They called me on the phone to tell me I had VHL and a brain tumor; I stepped outside of a meeting and was standing at a desk out in the open. So, my advice to new doctors would be to take complaints seriously; don't tell someone for years that they have nothing wrong with them unless you're sure. Also, a face to face meeting for results is a better idea than calling someone at work to let them know of a devestating diagnosis. BTW, I have a fantastic doctor now--the first thing I did was find an internist I could work with. Great docs are out there, you just have to mine for them.
Thank you both for sharing your stories! So sorry you had such bumpy journeys getting to a diagnosis, but I hope things go more smoothly from here.
To understand jes6301's discussion of DNA changes in introns, let me remind you that the VHL gene is divided into three "exons" or sections. Between these sections is some additional genetic material, a kind of "spacer" between the exons. This "spacer" is called an "intron".
Until recently, the genetics researchers thought that the stuff between the exons was "junk DNA" -- just a spacer thing that had no function. Now, however, we are learning that that material in fact does have a function. You are not the first person I have heard of who has the only change in their VHL gene in an intron, and yet has full-blown VHL.
The database of mutations is an excellent tool, but it is NOT a complete catalog of all the ways the VHL gene might be changed -- it is only a catalog of the mutations SEEN AND REPORTED in the scientific literature. So it is by no means all-inclusive, nor is it a definitive list. If your mutation is not on it already, that just means what we already knew, that you are unique. You are helping us learn new things about how the VHL gene works.
I believe that you should definitely go through the screening "as if" you have full-blown VHL. it may be that your genetic alteration causes only kidney tumors -- we don't know that because we have not seen it before -- but until proven otherwise we have to assume that you are also at risk for other issues in VHL. So take this as an early warning system, and use it to your good advantage in managing your health.
All best wishes,
Joyce
Might seem funny at first instance, since I'm a doctor myself who was not taken seriously because of this reason only. After experiencing some severe symptoms related to my cerebellar haemangioblastoma, I consulted a very reputed senior doctor in my city. And what he does is, does some goody -goody talk, not even examines me and just prescribes a drug for my nausea to be taken for 15 days. Being a doctor, I could sense its something more serious than a routine nausea, so I travelled to a bigger city nearby and got myself thoroughly investigated to find a big tumor lurking in my cerebellum needing immediate attention. I was operated within next 3 days to know I was "just in time".
The need to listen to your body and insist to the doctor about your complaints is what I advocate to everyone emphatically these days. Change your doctor if you are not convinced. I can only imagine what could happen to a layman if the doctor does'nt pay attention. Hope things would change with increasing awareness and patients becoming truly "informed patients"
Hi Jes6301:
I'm sorry to read that you have had such a difficult time trying to get answers and help. Please contact me and I'll see if there is anything I can do to help things go smoother for you. I have sent you a personal message with my phone number, and you are also welcome to contact me by e-mail. I look forward to hearing from you.
Fran Mott
VHLFA Michigan Chapter, Chairperson
us-mi@vhl.org
My second pheo was the one that was a problem for me and my Doctors. I was first diagnosed with bilateral pheo's in 2004 because tumors on both adrenal glands lit up on the MIBG scan. The decision was made to only remove the very large tumor on one of my adrenal glands. After the surgery in 2004 I started having pheo symptoms again, but not as intense as before my surgery. When I first talked to my endo about it we did the urine test and PFM test, both came back negative. My Doctor told me that since I tested negative that the other tumor was not a pheo, just a normal growth that is seen in lots of people. He thought the MIBG lit up it because that sometimes happens. After a few more months and periodic adrenaline (panic) attacks and periodic very high blood pressure attacks I went back and insisted that tumor was affecting me. He then wanted to refer me to someone to talk to because he thought it was all in my head and that I just couldn't let go of being so sick the first time around. (I had no previous history of being a hypochondriac- as a matter of fact I would only see a doctor once every 2-3 years prior to this). I declined his offer to talk to someone, gave up at that point and figured eventually it would test positive and I would get it out then, in the meantime I gave up sugar and caffeine which were the things that were my biggest trigger.
A few months later I started an Eye Treatment at NIH with Dr. Chew. During one of my trips there my Blood Pressure was out of control again and I was checked out by the Docs in Urological Oncology. They of course did scans confirming a tumor, MIBG which lit up and the PET/CT scan for pheo's which also lit up that tumor. But, my urine and blood tests came back within normal range. I remember seeing both the Dr. in charge of my case and one of the Drs. that worked under him at the same time. The younger Dr. was asking me if I was having hormonal problems because he seemed to think the urine and blood tests would be positive if I really had an active Pheo. But, thank god the Dr. in charge of my case said to me that since I had already been through this and knew what it felt like to have a Pheo, that if I said it was active, then I would know better than them. He then offered surgery whenever I wanted it to remove it. He also talked to me about the possibility of losing adrenal function and waiting until it was messing with my quality of life too much for me to deal with. It would go dormant for a month or three at a time, so I opted to wait until it got larger before having it removed. My first pheo was removed in 2004 and my second one was removed in 2007. I am happy to say that since my surgery in 2007 I've have nothing but normal Blood Pressure readings and no adrenaline attacks. As a matter of fact my BP went back to where it was before I had gotten pregnant 11 years previously.
I can't tell you how frustrating it was to be considered either a hypochondriac, a nutcase or a homonal woman instead of just taking me seriously. To this day I am reluctant to go to my local Doctor unless I'm really sick and I also tend to downplay any symptoms I have because I don't know if I'll be taken seriously or not. I don't want to come across as a hypochondriac or a whinner.
If I had any advice for a new Doctor it would be to listen to your patient and not immediately dismiss them because you think they can't possibly know what's going on with thier body better than you. And, don't assume that all women are homonal. That is incredibly insulting when you know something is not right.
Hi..Jes6301
My genetic testing is also very confusing. My results are described just like yours. Very frustrating for me...in fact, very frustrating for the last 8 years since i went through all of this. Here's my email if you want to talk: love2ballroom@aol.com.
Stay positive! Cari, from ohio.
It think Steven had a relatively easy route to diagnosis. It was simply a matter of a few months and waiting for the genetic testing.
But, if this helps train doctors in any way, we did have a few comments/decisions early on from doctors that showed the need for more training. The one that particularly sticks out for me was the radiologist who felt that he couldn't have VHL because his kidneys were clear on scans. He was only 16 at the time.
I was in a meeting with some top-docs the other day and was surprised to hear them say that lots more people with VHL have CNS (brain/spinal) lesions (at least 70%) than have kidney lesions (59%, but usually later in life).
In fairness to your radiologist, to make a clinical diagnosis of VHL in someone with no family history he would be looking for lesions in two organ systems. His phrasing was certainly poor, though. What he should have said is that based on these scans I can't say for sure that he has VHL, but the fact that he is young and has multiple VHL-related tumors means that VHL should be investigated further (DNA testing).
Best wishes,
Joyce
My 56 year old brother was diagnosed yesterday with VHL. He had a kidney removed in August and a mass was detected on his spinal cord in his neck. The MRI's ruled out any tumors on his brain, thank GOD!!
He has suffered for over 10 years with numbness in his hands and the doctor he went to for an L&I claim said that was due to nerve damage from the vibrating tools he uses in his trade. Too bad they didn't look further back then as he has almost completely lost his ability to walk. He has also started to lose the vision in one eye. So, we will need to have that checked out too.
During the last 10 years he has been to several doctors and chiropractors trying to fix the back pain and increase his mobility. Nothing seemed to help. Earlier this year a doctor diagnosed him with MS, we finally had an answer, but a few weeks later the Dr changed his mind.
Anyhow, we are now waiting to find out what the plan is on whether or not they are going to operate or do radiation. I am worried about that, as he now weighs less than 125 #s and since the kidney surgery he is having difficulty with his diet.
Positive thinking and a GOOD doctor are the best prescriptions for a long life.
Best wishes to all!
For Shevy...It's a lot when you are newly diagnosed after such a long search for a diagnosis. It's a lot to deal with and absorb all at once.
Let's talk about this first on the phone and help you get it down to a manageable size. I sent you a message in the message section of Inspire, and feel free to call me or Jody on the hotline.
Best wishes,
Joyce
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