Chromosome 22 - gene deficiency linked to AN?

[gohmnyc]

Hi,

I am 2 months post-op.  Pre-op, I did a lot of research on the internet about possible causes of AN.  A couple of articles I've read mentioned that ANs could be derived from a deficient gene in chromosome 22 that fights/wards off tumors/growths in your body.  Has anyone else heard of this?  My interest in this grew when speaking with my reproduction doctor.  I am 38yrs old and finally trying to have a baby.  Because of my age, I am consulting with a doctor to ensure that I can prevent birth defects as much as possible.  I know insurance covers some tests for this for women over 35 but my doctor suggested that I consult with a genetics doctor about this chromosome 22.  Insurance does not cover this specific type of testing so it would run up to $10,000.  After my repro doctor spoke with the genetics doctor, he found out that it COULD  be passed on to the child (deficient gene).  Should I REALLY worry about this??  I think that most women who have had children after AN surgery have had healthy babies, no?  Do you think the general genes testing for women over 35 is sufficient or do you think I need to consult with a geneticist?  Please advise.  Btw, my repro doctor only knew of this because I mentioned it to him.  I can't believe it blew up to all of this worry.

Any feedback would be appreciated.

Thanks.

[tony]

There is some truth in this but it really relates to a condition called
"NF2" where you have two - or more - tumours
There are a few of us on this list - and more info on the web
However some caution is required - firstly normal single ANs
are not usually NF2 at all - they just happen.
For example our Gamma Knife centre has treated
3,000 single AN patients but maybe 300 NF2s in the same
time period (over 10yrs, ratio 10:1 approx)
If and until you, or anyone actually has an NF2 diagnosis
- the gene type test is of little value
It is expensive - and does not always find the problem
(due to the complex nature)
I have known confirmed NF2s return from a gene test
as nothing found - so not always 100%
Its a complex area it might be better to consult with a doc
who has more experiance - to help reassure you perhaps
Best regards
Tony

[nancyann]

Interesting NYC,

This AN is the 3rd tumor I've had removed.  The first was age 17, then 33, now 50.   I'm the only one in my family that grows tumors (I have 2 older brothers and 1 younger sister). Geuss I could have a deficient gene, never checked it out.

[Palace]

Hi


So, can this just skip do you think and show-up somewhere along the "gene-line" as some human defects do?  (not passed down saying each person down the line would get it)  You know how some diseases or defects can skip in heriditary lines.  (mystery showing up down the way)  What I'm trying to say is I think we don't really know and it won't show up on every reproduction made.  I know of no person in my family that has it but, I'm "unilateral" so, it isn't supposed to be passed down, in theratically.  Just my thoughts...........for what it is worth.....

I read early on when I was doing research about the NF2, as well.

I'm a member now of AN literature and it is sent to my home.  (thirty five dollars a year)  I hope it has more information than what I get online; up to the lastest data.



Regards,



Palace

[tony]

One has to be careful being pedantic about NF2 -there are just so many
variations or exceptions etc etc - anyway NF2 does not usually miss a generation
- and then "reappear" a generation or so later
it is either passed on one to another or it is not.
About 50%(?) of all NF2s are not genetic at all - and even then
only a given % will pass onto the next generation
Bear in mind a slow moving form may take 10 or 20 yrs to show itself
Anyway if you, or anyone is definately confirmed NF2 then
a genetic test is possible for relatives etc
but even then it is not 100% reliable
It might be worth getting on a dedicated NF2 clinic
they can assist with the checks etc
Remember the condition is rare so local medical
knowledge maybe a bit thin on the ground
Note to Nancy Anne : I think you might be described as a "Mosaic"
(ie: not in all cells)
which may account for the relative long gaps between growths
(On balance, its probably one the least damaging versions)
Hope this is of assistence
Best regards
Tony

[gohmnyc]

Come to think of it, I do recall my doctors saying that it is a sporatic development and there are no "causes".  Also, I think you're right in that it is more for the bilateral NF2 patients to look into.  I am a unilateral patient.  I've decided not to go through with the testing.

Thanks for your comments.  Please do add more if you find out anything new.

[nancyann]

Thank-you Tony

I like the term "Mosaic" (I've been called worse!!!  lol) - never heard of that!

Best regards, Nancy

[windinthesails]

Hi there,
  When I first saw my doctor he mentioned chromsome 22...but that research suggest that the defect on it is related only to NF2 (bilateral) and that they dont know why right now ppl get unilateral ANs. So more info to go with what has already been said.
               

[Lisa B]

to gohmnyc,

I did have a lengthy decussion about gene 22 in both types of AN,s. 
  Should you have genetic testing for this before having children?  I wan't to just ask you....don't you feel that we all have something that can be found to be a defect in our genes. There are so many.  Granted ..there are a few important things you might want to test for so that the quality of life a your child will be as good as can be ( your doctor would probably suggest these), but I think that this one ( AN,s ) are not something that I would consider.
 All of the great experiences that I would not have had if my parents had opted not to have me in my life or for that matter even for my children... wouldn't put this at the top of the list.  Sometimes I feel that we go crazy with wanting to know everything. We all want a  perfect child, but every one of us has something.  Machines, we're not...opps ...they have problems sometimes too...and we fix them up when that happens ...
I'm sorry if that sounded all to serious.  I love that I'm here even with this AN.

Lisa B
 

[gohmnyc]

Thanks for all your input, everyone.  I just saved myself $10,000. 

gohmnyc

[Battyp]

Oh boy let's party with that extra money  LOL  I agree with Lisa b. You can't control all defects and if truth be told we all have something.  My niece who's turning 4 has a place on her leg that is indented. They have no idea what caused it but hey who cares.  She's not going to be a leg model but she's smart, funny, and likes to play pirate with me so I think she rocks!   I have scoliosis and unf. for me wound up with the AN.  I don't think my mom would trade me in.  I think the biggest thing to ask yourself is...what can you NOT handle?  Then focus in on that testing.  I know for me I was worried about a kids with Down's or worse but decided not matter what I was blessed with I would and could handle it.  There are a few posties on here who have had little ones since their diagnosis and treatment and they are cuties.  I know for me and my son if he ever complains of ringing ears, or fullness it's straight to the mri machine we go!  All my best to you...you'll have to let us know when we all become honorary aunts and uncles!