Guest guest Posted July 25, 2002 Report Share Posted July 25, 2002 I have been reading with interest about the moasic and germline strains. I had bloods taken 6 years ago and it took them 2 years to say that they couldn't find anything and needed a biopsy. 1st thought was horror - I don't want a 3rd operation, but remembered that they keep the tumour as it comes out. A piece of the tumour was sent away and it has been 4 years so far. Of course things may not be as fast in New Zealand. So I am expecting a " can't locate " result. I am not sure that I read it correctly - I deleted it after I had read it unforunately - so correct me if I am wrong It all starts with a person with a defective 22 chromasone and the person may not have any tumours at all - sort of like a carrier. If a child gets the defective part, then they get tumours. It may be moasic. and therefore less severe phenotype(clinical presentation) or it could be germline. Passed again to their children and they get germline (can be more tumours that the parent, or the same). not can, but will be more tumors. your DNA analysis/tumor analysis woudl have either been done in UK or USA. considering they cannot find it, you may well be mosaic, or a mutation that they have not seen before. how old when you learnt of your NF2? many tumors? and do you communicate with the other 30 in NZ. rosemary in AUs. This is a totally new learning experience so I am confused. If I am wrong - please expain it again. In New Zealand there are 20-30 approx. cases total. We don't seem to get the same detailed information that you guys in America get. Looking for help. Quote Link to comment Share on other sites More sharing options...
Guest guest Posted July 25, 2002 Report Share Posted July 25, 2002 >It all starts with a person with a defective 22 chromasone and the person may >not have any tumours at all - sort of like a carrier. Not exactly, but close. There are two ways for a spontaneous mutation to occur. One leads to a germline mutation, the other leads to a mosaic mutation. 1. This starts with a parent who is completely normal, except for one of their eggs or sperm (this produces a germline mutation). Basically, only one cell has the defective chromosome 22. They do not have NF2 and they do not have NF2 tumors. Only one of their children, the one born from the single defective egg or sperm has NF2. None of their other children have it. 2. For a mosaic, it starts after a normal sperm and egg have joined and cell division is taking place. A mistake occurs in the chromosome during cell division, and that leads to a mosaic NF2. Again, the parents do not have NF2. The other case is an inherited mutation. The parent has either a germline or a mosaic mutation. On average, half the children born to someone with NF2 inherit the disorder, and the mutation becomes germline even if the parent has a mosaic mutation. Quote Link to comment Share on other sites More sharing options...
Guest guest Posted July 25, 2002 Report Share Posted July 25, 2002 Re: genetics had bloods taken 6 years ago and it took them 2 years to say that they couldn't find anything and needed a biopsy. 1st thought was horror - I don't want a 3rd operation, but remembered that they keep the tumour as it comes out. A piece of the tumour was sent away and it has been 4 years so far. Of course things may not be as fast in New Zealand. So I am expecting a "can't locate" result. I Quote Link to comment Share on other sites More sharing options...
Guest guest Posted July 25, 2002 Report Share Posted July 25, 2002 It may be time for your Geneticist to send them a reminder. What they told me they do is, if they can't find a mutation, after a given period, revisit it from time to time seeing if anything further can be found. A lot would have happened in Research in the last 6 years. Here's what I suggest. Find out if your blood went to the USA or UK. If it went to the UK send an e-mail to a Tweedy, via the Crew. She has direct contact with Gareth and she/he may be able to get some info for you. a will help you if she can. ine From: Rosemary Lee To: NF2_Crew Sent: Thursday, July 25, 2002 11:00 PM Subject: Re: genetics I had bloods taken 6 years ago and it took them 2 years to say that they couldn't find anything and needed a biopsy. 1st thought was horror - I don't want a 3rd operation, but remembered that they keep the tumour as it comes out. A piece of the tumour was sent away and it has been 4 years so far. Of course things may not be as fast in New Zealand. So I am expecting a "can't locate" result. Quote Link to comment Share on other sites More sharing options...
Guest guest Posted July 25, 2002 Report Share Posted July 25, 2002 I need some things clarified NF2 is which chromezone and does what? NF1 is which chromezone and does what? I know they are different chromozones and have different effects. I just want some one to explain in words and that is better for me. I feel I am a person who has both. I have NF2 signs and symptoms and NF1 signs and symptoms. When I first sought treatment it was believed I had MS almost but they were not sure. Things change over time believe me. Randy Quote Link to comment Share on other sites More sharing options...
Guest guest Posted July 25, 2002 Report Share Posted July 25, 2002 RANDY IT IS MY UNDERSTANDING THAT IT IS CHROMEZONE 22 THAT IS NF 2 I AM SURE SOME OT THE CREW CAN ANSWER BETTER THAN ME CATHERINE Re: genetics > I need some things clarified > > NF2 is which chromezone and does what? > NF1 is which chromezone and does what? > I know they are different chromozones and have different effects. I just > want some one to explain in words and that is better for me. > I feel I am a person who has both. I have NF2 signs and symptoms and NF1 > signs and symptoms. > When I first sought treatment it was believed I had MS almost but they were > not sure. Things change over time believe me. > Randy > > > Quote Link to comment Share on other sites More sharing options...
Guest guest Posted July 26, 2002 Report Share Posted July 26, 2002 Re: genetics > I need some things clarified > > NF2 is which chromezone and does what? > NF1 is which chromezone and does what? > I know they are different chromozones and have different effects. I just > want some one to explain in words and that is better for me. > I feel I am a person who has both. I have NF2 signs and symptoms and NF1 > signs and symptoms. > When I first sought treatment it was believed I had MS almost but they were > not sure. Things change over time believe me. > Randy > > > Quote Link to comment Share on other sites More sharing options...
Guest guest Posted July 26, 2002 Report Share Posted July 26, 2002 Joyce thank you, thank you I am soon to be 54. I have been unable to work since '92 No mother, father, brother or sisters have this. I have two daughters, one grandson. Youngest daughter shows signs of NF but no symptoms. Oldest daughter seems fine and grandson seems fine. I told the doctor when my daughter was pregnant about my NF but he did not seem concerned. My aunt had MS. I questioned that but I was too late. She lived in a very small town and specialist were very rare if any. not saying she did not have MS just I feel she showed if went to a big city I am one of those who question the likelyhood of having both. I know it is near impossible but I still question it. Thank you Joyce Randy Re: genetics > > > > I need some things clarified > > > > NF2 is which chromezone and does what? > > NF1 is which chromezone and does what? > > I know they are different chromozones and have different effects. I just > > want some one to explain in words and that is better for me. > > I feel I am a person who has both. I have NF2 signs and symptoms and NF1 > > signs and symptoms. > > When I first sought treatment it was believed I had MS almost but they > were > > not sure. Things change over time believe me. > > Randy > > > > > > Quote Link to comment Share on other sites More sharing options...
Guest guest Posted July 26, 2002 Report Share Posted July 26, 2002 Your doc is outdated. I have an ABI, and most definitely you can have a brain scan/MRI. They changed the method, and the magnet is on the outside and detachable. I am not one of the great success stories, probably in the middle, but I love my ABI, and feel much more secure/independent with it. Marie genetics I am now 37 years old and was first diagnosed when I was 25. 3 months after the birth of my daughter. Had both AN's out now. I only started with bi-lateral AN's. Last MRI is "too numerous to count" in both my head and spine. All the people with NF2 from NZ do not get together (we tend to be large distances apart). When I went to see my surgeon 2 times ago - he was talking about a brain stem implant. Does anyone on the Crew know about it? Have any thoughts about it? He did expain that while you have the implant in, you can't have MRI scans. Quote Link to comment Share on other sites More sharing options...
Guest guest Posted July 26, 2002 Report Share Posted July 26, 2002 , You can have this Op and ABI done in Sydney or Melbourne. from OZ genetics I am now 37 years old and was first diagnosed when I was 25. 3 months after the birth of my daughter. Had both AN's out now. I only started with bi-lateral AN's. Last MRI is "too numerous to count" in both my head and spine. All the people with NF2 from NZ do not get together (we tend to be large distances apart). When I went to see my surgeon 2 times ago - he was talking about a brain stem implant. Does anyone on the Crew know about it? Have any thoughts about it? He did expain that while you have the implant in, you can't have MRI scans. Quote Link to comment Share on other sites More sharing options...
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