Hi everyone,
I finally heard back from the geneticist with my NF2 results. I thought I would post a 3-month post-GK update on how I was told about my results, and how I've been feeling in general.
First, the assistant from the geneticists office told me that my blood sample showed NO signs of NF2. This means that there is now even stronger evidence that my AN is just a random, sporadic occurrence. There is still a small chance I am a "low level mosaic" who has the NF2 gene in a fraction of my cells so small it cannot be detected by the blood test. Below I'll provide lots of detail on this in case there is anyone else out there in the same boat as me who's worried about NF2. If you just want to know how I'm feeling skip to the last paragraph.
Prior to the test, I was told the likelihood that a 31 year old person with a unilateral AN, no other tumors, and no family history of NF2 was 10% (meaning 90% chance sporadic occurrence). When the geneticist's assistant told me the test was negative, I asked how that might modify my odds. She said, "Well, the test is sensitive enough to catch about 65-70% of mosaic cases, so I guess I'd say the odds you are a mosaic are now 3%". However, she felt she wanted to talk to the geneticist in person about this and call me back (which I appreciated). According to the geneticist, the odds I'm a mosaic NF2 are "much lower than 3%" but he "didn't want to put a number on it" (love when doctors do that) because "there's so much variability between studies".
Furthermore, even if I am a low level mosaic, that might not mean anything depending on how the fraction of NF2 cells is distributed in my body. If no NF2 cells are on present on the other vestibular nerve, I won't develop bilateral tumors. Therefore the likelihood that I eventually develop a tumor on the other side is incredibly small, but not zero.
Finally, if the odds I'm a mosaic NF2 are less than 3%, the odds I've passed this on to my children (we are expecting our second child this summer) are even smaller. Because they couldn't identify an NF2 signature in me they cannot test my daughter because they don't know what to look for (I don't get the rationale for this but whatever). Interestingly, the geneticist said that in 5-10 years genetics testing will have advanced to the point that I could learn definitively if I have ANY NF2 cells in my body at all (even if an incredibly low number).
I know for many, going through the whole process of genetics testing wouldn't be worth it just to go from 10% likelihood to less than 3%, but it was for me. I'm glad I have all the data and the news is a huge relief. I can now place my NF2 worries in the same box in my mind where I put tornadoes destroying my house and getting e coli from eating a spinach salad.
Meanwhile, its been 3 months since I had GK at UPMC and I'm feeling very good. About 6 weeks post GK I did notice some episodes of feeling light headed. My head would feel slight pressure like I was on an airplane or something, accompanied by an increase in my tinnitus. These episodes lasted for just a few seconds and were in no way impairing, just interesting. I was going to email Dr. Lunsford's office to confirm this was a normal experience, but the episodes went away after a few days and haven't returned.
Beyond that I just have the same AN symptoms I had pre-treatment- a little bit of imbalance, some tinnitus, and difficulty discerning high frequency speech in the left ear. I believe the hearing in my left ear is still good and unchanged since GK.
Emotionally, things are just getting better and better, even while waiting on the NF2 testing. I'm able to go longer and longer stretches where I don't think about my AN at all. My main source of stress in life is finishing my doctoral dissertation, which feels like a luxury cruise compared to my post-diagnosis stress level. I still remember meeting with the ENT after my diagnosis and hearing about facial paralysis and all that scary stuff. I remember thinking I would surely have to delay my defense date by a year, or maybe even drop out of grad school all together. Today I'm grateful to be still on pace to defend this summer. I'm applying for jobs, spending time with my family, exercising, enjoying life, and looking forward to the future. In many ways my life has more meaning now than it did this time last year. Life with an AN has never been this good and I hope it stays this way.
Thank you all for listening to me unload! Unless I have a sudden change in how I'm feeling, my next update will probably be at the 6 month mark when I have my first post-GK MRI.
Take care everyone,
Adam
