New around here, undergoing testing soon for NF2

[Alice]

Hi,

I registered for this forum awhile ago but never posted until now, pleased to meet you all. I had a very large unilateral acoustic neuroma removed when I was seventeen and a meningioma diagnosed when I was eighteen (I'm nineteen now). The meningioma was found through an MRI ordered by my neurologist after I was diagnosed with epilepsy. Since that diagnosis, I have wondered a few times if I have NF. To my knowledge (although admittedly I've never asked and my family is pretty big), I don't have any relatives with it.

Yesterday I saw my neurosurgeon for my annual appointment and asked him if he thought I could have NF, and if genetic testing was available. He said that when looking through my notes he was surprised that no one had recommended I get tested earlier, and personally, yes, he did think I could have NF2. Both of us are extremely interested in pursuing the testing, so we're organising that.

Questions: I searched around for other discussions of NF testing in people who have only had unilateral ANs and see that these scenarios have come up before. I meet one case of the presumptive criteria I've seen listed around these forums and on various sites: unilateral AN at age <30 + meningioma. I know I don't actually meet the diagnostic criteria though currently. If the mutation is found, I still wouldn't be diagnosed with NF2 and would just remain presumptive, right? Also, will I need to undergo genetic counselling as part of this testing?

I know we might look at potentially having genetic studies done on my first-degree relatives if the mutation is found, but I don't know what else might happen right now. To be honest, my biggest worry is about my younger brother's future, so part of the reason I wanted testing was to give him the opportunity to look into some of his own potential risk factors, should I test positive. We'll see what happens, I guess -- thank you for reading! On the bright side, the appointment did otherwise go as well as could be expected.

[Susan A]

Hi Alice,
I'm one of those who don't meet the diagnostic criteria for NF2 (or at least didn't when I was first diagnosed.) One AN, and one meningioma, both on the left. (They found a second meningioma last summer, also on the left.) For me, the factor that tipped the diagnosis to NF2 was having previously been diagnosed with mosaic ring chromosome 22. For you, I would suspect NF2 given your youth.

The genetic testing may or may not show NF2 though - if you have a mosaic form like me it's a question of whether the sample they take happens to have the damaged gene in it. No one has been interested in doing any further genetic testing on me as it's unlikely at this point to give us any useful information.

Do you know if either of your parents have ever had any NF2 symptoms? (Bear in mind that as a first generation, mosaic case, my symptoms did not show up until I was 50 and I'm assuming your parents could easily be younger than me.) If you have inherited NF2 from them, then your brother may or may not have it - I think the chances would be 50/50. If you are a spontaneous case, then he will not have it.

Have you had a spinal MRI done?

Good for you advocating for yourself and asking about NF2 - I'm glad you have a neurosurgeon who took you seriously! Keep us updated!

[nftwoed]

Hello Alice;
   Of course only a Dr. can Dx, but considering what you've reported, I feel it's likely you have NF-2. Some think NF-2 means an AN on each side, but really it means, "any two of' NF-2 type tumors. Actually, I don't believe the 2nd tumor even needs to be in the head.
   Genetic counseling is good as people's awareness and knowledge is furthered, but there's nothing to stop another from developing NF-2. The blood test is about 60% accurate yet at this point, I believe.
   Best wishes in all ...

[Nannybee]

Hi Alice, just a warning, the NF2 test takes about 8 weeks to come back.
I would suggest you have the testing, then follow up with a geneticist to review the results since you have concerns about your family members.
My results finally came back, and will be seeing a geneticist at Penn in 2 weeks. I understand that they can still make a diagnosis based on clinical features ( in my case unilateral AN and 3 meningiomas).
Good luck.

[nftwoed]

Hello;

   And, even if one tests positive in a test 60% accurate? I see no point unless a couple wishes to have children, but then, the chance of the child developing NF-2 is 50%.