Neurofibromatosis question

[freefallin]

Can anyone tell me if it's true that you can determine if a newborn has neurofibromatosis at birth?

My mom had it (not sure if it was NF1 or NF2...can't ask because she passed away a few years ago).

A few times, she claimed that they tested my siblings and I at birth and determined that my youngest sister and I didn't have it, while my other sister and brother did.

I've developed a lot of really scary neurological symptoms starting when I was 14 that have just gotten progressively worse (I'm 22 now), though. A lot of them seem potentially consistent with an acoustic neuroma...awful balance, lack of coordination, excruciating localized pain on the back right of my head, tinnitus, poor hearing, memory loss, etc.

I'm starting to wonder if all of this could be due to NF that my mom passed onto me, but I'm a bit baffled because she always told me I was checked and didn't have it. All I know is I'm tired of worrying that I'm dying every second that I'm awake and avoiding everything I used to enjoy doing.

Thank you for any responses in advance.

[mommabear70]

Hi there.. I have the third type of Neurofibromatosis (NF) it is called schwannomatosis.. I wasn't diagnosed until age 35. In my opinion I would have your pcp schedule you to see a gentic councelor.. it is very hard to tell the difference between NF 2 and schwannomatosis... how can I say this without being confusing.. tumors in schwannomatosis can apppear anywhere in your body however they usually stay in one area.. mine are in my right leg/foot and hurt like heck...I have CAL and aux.. freckling and confirmed through biopsy that they are schwannomas...I have been tested by blood NF 2 and schwannomatosis and both were negative.. my son was tested for NF 1 and he was negative......they really feel I have the third one and I am the first in my family to have it...I am going to try to see how to send you a private message to seek support from a certain area   but please go to www.ctf.org and there are many many people there that aere supportive in this.. they have helped me out big time and this web site came from my NF doctor,  oh by the way many docotrs are unaware of schwannomatosis let alone nf so make sure you go to a doctor that is knowledgable...my first neurologist ws very upfront and honest and said he wasn't comfrotable taking me on as this wasn't his area.. I was very thankful that he was upfront and honest with me, that there says alot about him.. he could have just tried to take care of me but he was more interested in helping me not hurting me so don't get upset if a doctor says this
Michelle
Michelle

[Christopher R Newey, DO]

Thanks for using the forum. I am happy to address your questions, and my answer will be based on the information you provided here. Please make sure you recognize that this forum is for educational purposes only, and it does not substitute for a formal office visit with a doctor.

Without the ability to examine and obtain a history, I can not tell you what the exact cause of the symptoms is. However I will try to provide you with some useful information.

Neurofibromatosis type 2 has criteria to diagnose. These include having 1) bilateral vestibular schwannomas (benign tumors affecting the 8th cranial nerve) OR 2) a first degree relative with NF2 AND one vestibular schwannoma or two other findings including meningioma, schwanoma elsewhere, posterior lens opacity of the eye, cerebral calcifications or a combination of these. There are various forms of NF2 phenotypes including an earlier onset type and a later onset type. The condition has a genetic basis and is inherited in an autosomal dominant pattern. If you do have a family history of NF2 and are concerned that you may have this condition, I highly recommend you follow up with your physician. You may eventually need to follow up with a neurologist and/or geneticist. Also, you may benefit from having an MRI of your brain to evaluate for vestibular schwannomas.

Thank you for this opportunity to answer your questions, I hope you find the information I have provided useful, good luck.