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Calling All Mosaics

brooke2
0 Recommendations

I was recently diagnosed as being a mosaic for VHL.
I am interested in hearing from anyone else who is considered mosaic.
I found out about VHL thanks to a nasty little renal cell carcinoma that rocked my world earlier this year. Doctors have since found a hemangioblastoma in my left eye. So I thought for sure I had VHL.However my DNA test came back as no gene fault found. (further tests are still ongoing they are sending my kidney tumour for DNA testing and I have MRI's of spinal cord and brain 17/04)

I guess I'm just trying to get an idea of how many people out there are mosaics like me.


Cheers,

Brooke

Explore topics in this discussion:

Crohn's disease Hemangioma Kidney stones Hemangioblastoma

6 replies

joyceg98

I'm sure you will get some replies here, but it will be hard to get a handle on percentages. Most people in your situation do not have a diagnosis at all, so most of them will not have found their way here.

Before there was DNA testing, the clinical diagnosis of VHL was to have two kinds of VHL-related tumors. Since you have that, you have VHL, even if they can't find it in your genes yet.

We have a couple of people in this community whose only DNA change is a tiny misspelling in the material between the codons, which they did not think was relevant. However, if that's the only problem they can see, then it must be meaningful in the body. We are all still learning about genes. As Dr. Collins (head of the Human Genome Institute) says, we now know how to spell it, but we don't yet know what it means.

So welcome! Your DNA quest is an interesting journey, but don't let that mystery get you stuck. Please use our Handbook to your advantage and we will be happy to work with you to manage your health.

We're glad you're here!

Best wishes,
Joyce

klenahan

Hi Brooke. I am also considered mosaic. I had renal cell carcinoma in Sept. 03, which was found quite by accident. We were looking for kidney stones caused by the Crohn's disease that I've had for nearly 30 years. To say it rocks your world is putting it mildly. I've known for years that something strange was happening in the back of my eyes so when I went for my yearly eye exam in 05, they put 2 and 2 together. When I learned what VHL meant to my children and my grandchildren I was DEVASTATED. DNA test done at Hopkins. No mutation was found, hence the mosaicism. Soooooo, here we are a couple of years later and many, many diagnostic tests later and no new tumors as of today. The first reaction is to run off to the doctor and get tested for everything the handbook suggests. In the long run that is really all you can do. No one in my family has anything remotely close to this. Although...............I am from the hills of West Virginia so who knows about that McCoy connection.(hahaha, sometimes you just have to laugh). Anyway, I am now 52 years old with an adult son with two children and an adult daughter. My daughter has been tested by Stolle at CHOP and came back 99% negative because of the mosaicism. My son will not be tested. I find it very interesting that you have presented in the same way. There are definitely more questions than answers. So, I have pretty much just handled it as if I had an identifiable mutation. Luckily all my doctors have been pretty reasonable about the testing. We are "unique". Sorry to be so long, feel free to e-mail me. Hang tough, Karen

donnainflorida

Hi Brooke,
I was also diagnosed as a mosaic for VHL after having renal cell carcinoma and an angioma
in my eye. I have also had a tumor in the tail of my pancreas and a teeny tumor in my spine. My DNA test was negative, hence the mosaic label. I had often wondered if they had missed my mutation somehow. But last year I had my 3 children tested and one tested positive, so my diagnosis is confirmed. Let me know if I can tell you anything else. Donna

brooke2

It's been a long while since I was on this site so I thought I should do an update for anyone reading.
My MRI's showed no lesions in either my spinal cord or brain.
The DNA test of the actual renal cell carcinoma tumour tissue showed no mutation.
I went to see surgeon about the retinal hemangioblastoma in my left eye and after initially being unsure but agreeable to it being a capillary hemangioma he later called me back to say he thought it was in fact a cavernous hemangioma.
I was very confused by all of this as were all my doctors. Anyway I tracked down one of the leading ophthalmologists in the country and organised a consult.
He looked at it and immediately said it's a cavernous hemangioma and these are not linked to VHL.
So without the retinal involvement and no DNA result from either the blood or the tumour sample my doctors have now concluded that I do not have VHL.
I know that nothing is 100% in life (including DNA tests) so I will still be looking out for anything that might prove otherwise. Thankfully with the RCC I will be getting regular scans anyway so if something were to show up I would still catch it.
I'm also happy to report that after putting things on hold throughout this ordeal and almost giving up on the idea I am now thrilled to be 4.5 months pregnant with my first child.
It's been a rollercoaster of a year that's for sure.

Thanks to everyone who reached out to me from this fantastic community. Stay strong.

Brooke.

Melbeth

This term mosaic is new to me and I don't think it applies to me but I am the first in my family with VHL. I have a complete deletion of the gene, as does my daughter who is 6. I've found it grueling to be the first one to have a disease of this magnitude in my family. I kinda felt at first that everyone thought that I was nuts. I began educating myself immediately and trying to pass on the information to my loved ones. But they definitely had a wall up, like if they didn't REALLY listen to what I had to say, it would make it all less real. Everyone is starting to get used to the idea now that we know my little girl has it too. It's been a very weird and unexpected turn in our lives but we are coping well. "Knowledge is power" is my attitude. Hope you are well.

joyceg98

Mocaicism does not apply to you, Melbeth, since you have a diagnosis of VHL in your blood. However, as you say, being the first person diagnosed in your family is still a difficult road.

Coming to grips with a diagnosis, and especially one that has implications for others in the family, is a process. It's very like grieving -- grieving your vision of yourself as invulnerable, and for your family members, grieving their view of themselves as having "great genes". It takes time to let it settle in.

I'm with you -- "knowledge is power". Eventually those other family members will come back to you for more information when they are ready to tackle it. The fact that you are open about discussing it will pay off for all the family in the long run.

All best wishes for you and your daughter,
Joyce

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