Author Topic: When/how did you discover having NF2 or why were you referred for testing?  (Read 292 times)

Sharky

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Hi everyone,

I hope you're all having a nice weekend.

I'm curios to know why you might have been referred for genetic testing for NF2 or how/when it was determined that you have it.

I was diagnosed with a small AN in May and at my first appointment with the ENT, I mentioned having developed cataracts in my late 40s/early 50s. The doctor was immediately concerned and asked if I'd ever had a spinal MRI. Well, no. The first MRI I've ever had was the one in May. He then referred me for genetic testing/counseling, along with various other referrals. I had a long talk with the NF2 nurse on the phone and, in the end, I'm not sure how important it is that I follow through with this referral. I know 40s/50s is kind of young to develop cataracts, but not THAT young. The genetics nurse wasn't really sure either. She DID tell me that this ENT refers "a lot" of people for NF2 testing. That gave me pause. I feel fairly ticked, to be honest, that the doctor was willing to plant the seed of fear and anxiety that I have a rare genetic disorder, if I don't even truly fit the criteria. My parents and one sibling are deceased and there are no autopsy reports. My other two adult siblings are pretty ok so far and are not dealing with anything neurological.

I would like to think that,before a doctor would choose to put a patient through this, he/she would have a damned good reason, but I don't think that's the case for me. I feel that it has only needlessly added another layer of worry on top of my concern about this AN.

How did things unfold for you?
NF2 suspected--genetics assessment 08/2019
05/25/19 W&W until 11/26/19
05/20/19-AN found R ear via MRI--7mmx4mm

-fullness in R ear, minor balance issue, tinnitus, FATIGUE-

Cheryl R

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The possible early cataract possibility is more of an issue in those with hereditary NF2.      I have never heard of that being a first sign of NF2 also.    The bilateral tumors or other type of some benign brain tumors are more likely.             My husband and a sister of his have both had cataracts at an early age.      No ANs with them.      I am the unusual lucky one to be NF2 over time.    Bilateral ANs and a facial neuroma also on one side,     That all I had.   No spinal tumor or other issues.   No cataracts yet either.  My last surgery was in 2008 so pretty sure all for me.  I am now 67.   
           I would not do the testing or get worried over it.                   Cheryl R
Right mid fossa 11-01-01
  left tumor found 5-03,so have NF2
  trans lab for right facial nerve tumor
  with nerve graft 3-23-06
   CSF leak revision surgery 4-07-06
   left mid fossa 4-17-08
   near deaf on left before surgery
   with hearing much improved .
    Univ of Iowa for all care

Cheryl R

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I should add that al long time ago I had read that NF2 is only 5% of all ANs.                 I hear the testing is costly and not always accurate.        Most people are considered the NF2 when bilateral or other tumor just shows up.  I was never tested.  My other side AN did not show up till 2 yrs after had my first AN surgery at 49.                            Cheryl R
Right mid fossa 11-01-01
  left tumor found 5-03,so have NF2
  trans lab for right facial nerve tumor
  with nerve graft 3-23-06
   CSF leak revision surgery 4-07-06
   left mid fossa 4-17-08
   near deaf on left before surgery
   with hearing much improved .
    Univ of Iowa for all care

Sharky

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Hi Cheryl!

Thank you so much for taking the time to post your thoughts and experience. I really appreciate it more than I can say. It has been a very stressful issue to layer on top of the actual AN diagnosis and, as I said, I really am annoyed that I left his office that day worried not only about having a tumor, but about having this additional rare disorder that I had never heard of. I'd really like to smack that doctor.  >:(

I agree with you--I am not going to get tested for NF2. If in the future it becomes an issue because of a new tumor diagnosis, then I will pursue it. Right now I've got enough on my plate with this AN.

Oddly enough, my primary care doctor, at the same time that I was being diagnosed with the AN, told me that he "strongly suspected" that I had a second pituitary tumor. So AN, NF2, and pituitary tumor. Guess what-I don't have a pituitary tumor. It's funny how everything is relative. At this point, I'm pretty psyched that all I've got is this one tumor, lol. Go figure. ;D

Again, thank you. Have a great weekend.
NF2 suspected--genetics assessment 08/2019
05/25/19 W&W until 11/26/19
05/20/19-AN found R ear via MRI--7mmx4mm

-fullness in R ear, minor balance issue, tinnitus, FATIGUE-

 


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