Author Topic: NF2?  (Read 6335 times)

terisandler

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NF2?
« on: August 16, 2013, 09:26:28 am »
Just made an appointment for genetic counseling next Thursday morning...Going to discuss all my various symptoms which taken separately mean nothing but one of my PCPs once told me she suspected I have a genetic problem found in people whose heritage is Ashkenazi (European) Jewish...
3/25/13- dx 18x11x14 mm AN, hearing loss in right ear x 5+ years, 5 sessions of CK completed May 2013, now a "post toastie".  Follow up MRI 4/14/14 - 15x19x11 mm. Stable with some signs of necrosis.
 Yippee!

terisandler

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Re: NF2?
« Reply #1 on: August 18, 2013, 06:17:17 pm »
So I filled out pretty comprehensive medical and family history forms for my appointment.  Some of the questions were baffling:  like asking the sex of each parent and whether or not each had children.  Shouldn't the answers to those be no brainers?
3/25/13- dx 18x11x14 mm AN, hearing loss in right ear x 5+ years, 5 sessions of CK completed May 2013, now a "post toastie".  Follow up MRI 4/14/14 - 15x19x11 mm. Stable with some signs of necrosis.
 Yippee!

nftwoed

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Re: NF2?
« Reply #2 on: August 19, 2013, 05:55:48 pm »
Hi;
    I think yes, they are "no brainers", but legally necessary in the USA today because we have homosexuals marrying and adopting, or surrogating children.
   From what I've heard, some of the kids school forms list Parent # 1, or Parent # 2.

terisandler

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Re: NF2?
« Reply #3 on: August 22, 2013, 08:45:12 am »
I had my appointment with the genetic counselor today:  I don't show the classic signs of NF2 or any other genetic condition.  It is possible I have mosaic NF2 but that is hard to test for other than a biopsy of the tumor (mine is still in my head).  If I do have the mosaic form my children & grandchildren are not at risk.  If I want to pursue this further, I can go to a NF practice in Indianapolis (100 miles away).  Somehow, I do not think it is worth pursuing any further. 
3/25/13- dx 18x11x14 mm AN, hearing loss in right ear x 5+ years, 5 sessions of CK completed May 2013, now a "post toastie".  Follow up MRI 4/14/14 - 15x19x11 mm. Stable with some signs of necrosis.
 Yippee!

nftwoed

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Re: NF2?
« Reply #4 on: August 24, 2013, 09:20:58 pm »
Hi;

   Actually, many people are at heightened risk because they may have inherited a once mutated NF-2 gene from a parent. One mutation is not enough to cause the disease, NF-2; So, if it's in the family, the tendency starts generations back.
   To have the full blown disease requires at least 2 mutations, or an NF-2 gene deletion. 1/40,000 occurence rate.
   Single AN occurence rate is about 1/5,000, but lifetime chance of gaining a single AN is 1/100,000. Aren't math and statistics great?  : )
   These type statistics mess my head up.
   Opthalmics is hard to remember and the refraction correction use inverse math and physics.

Susan A

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Re: NF2?
« Reply #5 on: August 27, 2013, 01:08:21 pm »
Having a mosaic form doesn't mean you can't pass it on to your children - just that the chances are reduced. However, if you do pass it on, your kids don't have the mosaic form, they have the full-blown form which is more severe. I have a mosaic genetic defect, and do not appear to have passed it on to either of my kids.
2011 8 x 7 mm AN, & 20 x 22 mm M found, both on the left. Mosaic NF2 diagnosed. Some hearing loss
2014 hearing 30% on left, now using hearing aid (HA)
2015 Now have CROS HA - no longer hear enough for HA to be useful in AN ear
2016 Use an FM system on occasion at work to supplement HA

terisandler

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Re: NF2?
« Reply #6 on: August 27, 2013, 07:15:54 pm »
Well, the genetic counselor was pretty adamant about sticking to her guidelines and apparently I don't meet any of  them.  She also indicated that the only way to tell might be by a biopsy of the AN, which is still in my head and I don't plan on brain surgery.  I have multiple lipomas and would be happy to sacrifice one of them if a biopsy of it would show whether or not I have a mosaic form.  I have too much going on to schlep 200 miles or more round trip to see the NF specialist.  I've closed the book on the question of NF2.
3/25/13- dx 18x11x14 mm AN, hearing loss in right ear x 5+ years, 5 sessions of CK completed May 2013, now a "post toastie".  Follow up MRI 4/14/14 - 15x19x11 mm. Stable with some signs of necrosis.
 Yippee!

Pam Fraley

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Re: NF2?
« Reply #7 on: August 27, 2013, 08:21:30 pm »
Teri,

I think you made a good choice regarding the NF2.

Pam
6mmx4mm a/n (left IAC)
8-9mm meningioma (right cavernous sinus)
Diagnosed 2/5/2013 MRI
Wait & Watch -  Dr. Arts, University of Michigan
MRI scheduled for 10/22/2013
No change, continue w&w, repeat MRI in 6months

nftwoed

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Re: NF2?
« Reply #8 on: August 29, 2013, 06:22:48 pm »
Hi
   "only way to tell might". Thats a very large "might". I think your decision was right.

terisandler

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Re: NF2?
« Reply #9 on: August 29, 2013, 07:30:49 pm »
Thanks.  It's always nice to get validation and positive feedback!  :D
3/25/13- dx 18x11x14 mm AN, hearing loss in right ear x 5+ years, 5 sessions of CK completed May 2013, now a "post toastie".  Follow up MRI 4/14/14 - 15x19x11 mm. Stable with some signs of necrosis.
 Yippee!

 


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