I am writing to see if anyone has had a similar experience or has any info. Here is my story: My grandmother near the end of her life (in her late eighties) found out she had several brain tumors. Her doctors told her she did not need treatment therefore she did not treat them nor did she discuss the details with anyone. Therefore I do not know if she had an AN, meningiomas, etc. She ended up dying of unrelated causes a few years later. I was diagnosed with an AN ~ 1 year ago at age 37. Now my uncle (the son of my grandmother) was just diagnosed with an AN. He is in his fifties. I talked to my neuro-otolgist today who stated I most likley do not have NF2. They will not perform any genetic testing unless I develop an AN on the other side. Has anyone known of three generations having brain tumors which are all unrelated? I feel like this is not a coincidence. I know it will not change my current monitoring but I am the type of person who just needs to know. I was quite frustrated about this and then I thought I should post here just to see if anyone had some wisdom to share. I have done the research about how the gene is passed on etc. but I am sure there must be some atypical cases out there. Any info would be appreciated! or maybe I just need someone to tell me to chill out and be thankful I have only had one AN! Thanks.
I'm a thoroughly atypical case and have spent a lot of time learning about NF2 so let me share with you what I know - but bear in mind I'm not a professional so take it all with a grain of salt.
Starting with your grandmother - you don't know what kind of tumors she had, but they appear to have been discovered rather late on in her life. So IF it was NF2, it wasn't Wishart-type NF2, which manifests early. Potentially Gardner-type, which shows up later - but more likely in your 40's or 50's not 80s. You don't say if she had hearing loss. Meningiomas/other brain tumors alone are NOT NF2 - so if she had no ANs, then she probably did not have NF2. If you cheeck out the Meningioma Mommas online support group, you'll find people with multiple meningiomas who do not have NF2. If she had a mosaic form, then she either did not pass it on to her children or she would have passed on the full-blown version and you most certainly would have known if she had done that.
As far as you and your uncle are concerned, from what you've said, neither of you fit the criteria for a diagnosis of NF2 which are: Bilateral vestibular schwannomas (VS)
Family history of NF2 (first degree family relative)
1. Unilateral vestibular schwannoma and individual is less than 30 years old
2. Any 2 of the following: meningioma, glioma, schwannoma, juvenile posterior subcapsular lenticular opacities/juvenile cortical cataract
Individuals with the following clinical features should be evaluated for NF2 (presumptive or probable NF2):
Unilateral vestibular schwannomaindividual is less than 30 years old plus at least one of the following: meningioma, glioma, schwannoma, juvenile posterior subcapsular lenticular opacities/juvenile cortical cataract
Multiple meningiomas (2 or more) plus unilateral vestibular schwannoma and individual is less than 30 years old or one of the following: glioma, schwannoma, juvenile posterior subcapsular lenticular opacities/juvenile cortical cataract
With only 1 AN, no other tumors, and no confirmed cases of NF2 in the family, there is no way any doctor is going to consider a diagnosis of NF2. It is bad luck that you and your uncle both have an AN - and who knows, there may be a genetic reason for it, but I don't think we know enough about genetics yet to be sure. You have great doctors though - but I know you know that!