This is a scenario referred to a "mosaicism". It affects only a small number of people, but of course it's a very important discussion for you since it might affect you.
I am going to put together a series of messages on this topic here, responses from members when we have talked about this in the past.
Please see also the information on this topic which is on the website:
http://www.vhl.org/newsletter/vhl2000/00bamosa.htm
And again, for other readers, this is something that affects only a small number of people
- if you inherited the mutation from a parent, this does not apply to you
- if you are the first in your family and have a positive DNA test for VHL (they found the mutation), this does not apply to you.
Best wishes,
Joyce
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A partial step toward VHL
- By Beth
- Posted December 20, 2006 at 1:22 pm · 2 replies
- In First in the family: mosaic?
- Shared with the public
2 replies
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- Newest first
- By Beth
- Posted December 20, 2006 at 1:24 pm
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There's no question that this is a confusing topic, and even lots of doctors don't fully understand it, so don't hesitate to ask.
If you are "mosaic for VHL" it's the same VHL, in terms of what to watch out for, and how it might be inherited by your children. The difference would be in which of your organ systems have the VHL mutation and which do not. There's no good way to test for that, so we just watch out for everything as usual and deal with things as they arise -- or rejoice when they don't arise.
Cheers,
Joyce
- By Beth
- Posted December 20, 2006 at 1:23 pm
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Thank you Joyce.
There are a lot of questions that I have thought of since leaving hospital yesterday. The geneticist asked if I had any but my mind went blank when he told me all this information.
Does this form of VHL vary to someone who has tested positive when their blood was tested and how much is known about it?
Ive only just started to get my head round the illness as I wasnt properly informed by the first consultant I saw, and my new consultant hasnt gone into detail about it so when I was told about this it really did confuse me. There is a lot I would like to know about it.
Thank you
Linsey.
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