New to this whole thing!

[MaryCPereira]

Hey guys,
I'm new to this, so I thought I'd share my story. I am 27 years old. I have always had migraines, and for the past 6 or 7 months I have had a headache every single day. Not always migraine level, but always there. Anyway, I started going to a neurologist, who said it was nothing and put me on antidepressants to try to get rid of the headache. It didn't work. She doubled the dose. It still didn't work. About a month after she had upped the dose, I had a terrible migraine. That was on Feb 6th. I took a migraine pill and instantly went to sleep. Nothing unusual. Well, I woke up on Feb 7th with a full like, swooshing sound in my right ear with decreased hearing. I called after hours for my PCP, and they told me to head to the ER.
The ER doc was amazing. She was the first person to ever take my headaches and symptoms seriously, and she did a CT scan. Negative. But, she wouldn't let me leave without calling my neurologist (at 2am), and left me instructions to go to an ENT, and meet up with the neuro again. The next morning I called my neurologist. They yelled at me for not taking the meds as prescribed, and told me I don't need an MRI, and just to triple the dose of the meds. Crazy. I declined.
The ENT had me go in that day for an emergency hearing test, which showed moderate to severe hearing loss with high frequencies in my right ear. This prompted an emergency dr appt with the ENT, and he said I needed an MRI, but that it was probably viral, and the MRI would just rule out an AN.  That Sunday I had the MRI. They told me it'd be at least 3 days before hearing anything from the doctor. The next morning before 10am the ENT doctor called and said I have an AN and that he is referring me to Mass Eye and Ear.

Fast forward to that appt. I'm seeing Dr. Santos in Boston. He says that because of my age, it's important to consider NF2. He also saw what could be a tiny AN on the left side. I was floored. I was still kind of thinking I'd go in there and he'd say nope, it's nothing, you're fine. Instead, not only do I definitely have an AN, but I might have two, which is automatic NF2. I left there with more appts for more MRIs, and an appt for my eyes, etc. Dr. Santos personally called me the next day to say that they think the left side might just be a blood vessel, and that it's too small right now to diagnose NF2, so he cancelled all of the other appts and we are officially in the watch and wait. I have another scan in 6 months.

Here's where I am caught up. I'm married. We have been trying for a baby for over a year. Then, I hear NF2, genetic, etc. I mourn a child that might never come. Then I hear no NF2, and wait 6 months, and I have no idea what to do. I have spent hours analyzing and talking to my husband, and we have decided that if it is NF2, that we won't have children. Just based on the research, I don't want to possibly have children and make them sick. Not knowing and having a child is one thing, but, just personally, I don't think I would feel comfortable conceiving with the knowledge of what that child might have to endure.

So, while I'm officially in the watch and wait status, I guess we are putting the child thing on hold. We said we would talk about it more after the next scan, to see what's up then.

Thanks for reading this. I know it's long and drawn out. Sorry.  Hope you are all doing well.

[PaulW]

NF2 can be genetic but it also occurs sporadically. So even if you are diagnosed with NF2 its not necessarily a genetic disorder.
Especially if there is no history in either family its more likely to be the sporadic NF2 not genetic.

There are genetic blood tests that can be done to help determine if your NF-2 is genetic or sporadic.

There are a number of options for having children to reduce the risk of passing on genetic NF2 if you in fact have it.
One option now available is IVF with Pregestational Diagnosis.. That is testing the embryos for NF2 before implantation.

http://www.reproductivegenetics.com/single_gene.html



 

[producer]

Hi Mary and Paul.    I was recenty diagnosed as Mosaic NF2 which means the mutation is not in every cell, I only have one AN (1cm) and hope this will remain so!  But as it was explained to me by a  geneticist regardless of whether or not youre the first one in your family to have it (sporadic as Paul put it)  it is still a mutation on a genetic level which is why it can be passed on to offspring. ie youre born with this, the mutation happens at the  pre-embryonic stage which again is why we're thankfully able to test embryos for NF2.

Whats the size of your AN if you dont mind me asking Mary?

stay positive!   


chris

[pjb]

Hi, I sent you a previous post was waiting to see if you liked Dr. Golfino with the appointment you had??

Best Wishes,

[MaryCPereira]

pjb - not sure if that last post was for me, but I see Dr. Santos in Boston and I'll be meeting with Dr. Baker at the end of the month to discuss surgery. 

As for the size... I think it's still pretty small. I believe the doctor said it's only about 5mm at this point. It's all so new that I don't remember a lot of the specifics yet. And if there is one on the left side, it's so tiny I'd say 1/5th of the size of the one on the right side.  I'll be meeting with the doctor at the end of this month, so hopefully I'll be a little more educated on the whole thing then!

Hope you're all doing well :-)