Klamblog - November 17th, 2021 · 4:02am Nov 18th, 2021
Back from Mayo. Got some good news, got some bad news. I'm still processing all of it.
I saw two otology surgeons. One was a specialist dealing with tumors, the other a more general head and neck surgeon. I saw the tumor specialist first. Before I get into this, though, I should note that all of this concerns my FACIAL nerve. I encountered a lot of confusion when trying to research facial schwannomas on the Internet, as it kept pointing me to vestibular schwannoma. These are not the same thing. The doctors corrected me on this. A vestibular schwannoma is an abnormal growth of schwannoma cells on your vestibular nerve. A facial schwannoma is an abnormal growth of schwannoma cells on your facial nerve.
The tumor specialist was nice all things considered. I learned really quick literally everyone deferred to his expertise regarding these matters. He asked me some questions as he examined me, particularly about my symptoms but also my medical history. I have a genetic nerve disease called Type 1A Charcot-Marie-Tooth (CMT1A) and I was pleased to find he was familiar with it. I wasn't surprised given the nature of all this. We both agreed it was how I developed this problem.
I should probably stop and give the cliff notes of CMT1A . Your nerves--all your nerves--are covered in a thin protective goop called the myelin sheath. In people with CMT1A, a duplication of a specific gene causes the body to, over time, produce too much of that protective goop. This causes the nerves to appear enlarged and also causes a reduction/dampening of the signal that's sent and received between the limbs and the brain. There's a LOT more to it than that, but that's what's important for now.
So, the tumor specialist pulled up the scan of my MRI. This was the scan that'd discovered the anomaly with my facial nerve in the first place. Basically the whole reason I was there. He fast-forwarded through the images a few times, then looked at me and said,
"This doesn't read like a tumor at all. It reads like your facial nerve is just abnormally large, likely due to CMT1A. I think you were misdiagnosed."
...
I was full-on deer in the headlights. Even now thinking back on it, I struggle with how I was given this news. The weeks of waiting, the jumping through insurance hoops, the stress, enduring the pain, everything. He had to have concluded this weeks ago and he couldn't have just... ugh. Yes, it's good it's not a tumor and thus there's no chance of cancer. Yes, it's good that because this is concerning my facial nerve, there is little to no chance of permanent hearing damage. Your facial nerve does have some interaction with the nerves of your inner ear--which is why I've had some associated symptoms--but my ailment is not of the nerves of the inner ear directly. These things are huge, and I'm grateful. God, am I ever grateful. This cannot be understated.
But CMT1A is a form of degenerative neuropathy. This means the symptoms progress over time, and so if my facial nerve's enlargement is due to CMT1A, then the enlargement and symptoms are just going to get worse and worse. Surgical intervention IS still an option, but the threshold for intervention is now even higher because the only two options given to me by the second otology surgeon guarantee at least SOME facial nerve damage. One option is to "slim down" the nerve, as the excess is essentially just extra myelin goop. The problem though is we're talking in measurements of millimeters, and modern medicine currently has no way to tell the difference between the myelin coating and the underlying nerve. The second option is to decompress the nerve, but you have to make space for that, and that means longer incisions... yeah.
And even IF you do surgery, there's no guarantee the nerve won't just bulk back up in 10 - 15 years. There is ONE way to stop that... but it's a drug that's been stuck in clinical trial hell for the last 10 years. It's called PXT3003. It's kinda considered the CMT1A miracle drug. They fucking refuse to give it the greenlight despite it showing such amazing results again and again. I'm seeing a new CMT doctor this January who is involved with the clinical trials, and I already messaged him expressing interest. He said we'd talk more about it at our appointment. Granted, even if I get into the trials there's a 50/50 chance I'll get a placebo, but what are you gonna do.
I feel like I walked away from Mayo with... I don't even know. My family has chosen to focus on the more positive aspects, and all things considered I don't blame them. The good things are very, very good. But the bad things carry long-standing implications, and there's also the matter of my current symptoms. The facial nerve is a motor nerve, and while enlarged, the doctors said there aren't any nearby nerves or organs it could be encroaching on. That means something else, or multiple somethings, is fucking me up, and the Mayo people couldn't help much beyond telling me what ISN'T the culprit. I do have a few leads, though: The first from a recent development in the last week, the second from reevaluating my medications. If it's all the same, I'd prefer to only talk about the first.
So, the recent development. Originally, my neurologist had referred me to a headache specialist, who had in turn referred me to the TMJ clinic. The TMJ people said, "You are hypermobile as hell. The muscles in your neck, shoulders, and jaw are like frozen meat. You need to be seen by our PT's, pronto." So I got referred again. The PT in question wound up being a craniocervical and temporomandibular specialist, and also a doctor in her own right (not really relevant, I just found it interesting because I've never encountered a doctor of physical therapy). She echoed much of what the TMJ people had said, but after talking with me reviewing my medical history, she said many, if not ALL of my headache and migraine related symptoms are likely due to overextension and joint instability (the hallmarks of hypermobility). Certain muscle groups are either working too much, not enough, or not at all. But she says she knows how to fix it, and if I do what she says, my symptoms should clear up.
So, I guess we'll see where this goes. I don't know how I feel about it right now because I... don't know how I feel about anything. Maybe that's a cop out, but after today I just feel numb.
I'm gonna go lie down now.
I would probably feel the same way, just kind of numb. It's another life altering diagnoses, so I think it's understandable. I do hope you can make it into the trial.
I've had PT for some shoulder damage in the past and it was a huge benefit even years later I'm still benefiting from it. So if the doc thinks that will help, it probably will help a lot.
Steps forward despite some rough news.
I don't blame ya, man. It's rough, but you seem to be getting there.
Good thing you're doing research and asking questions: that's the only way to get real health care these days
Worst case scenario, you can get tools for CRISPR from Carolina Biological and gene edit your nerves yourself if you've identified the cause to be genetic. There's a biohacking lab in NYC where someone did that to cure their lactose intolerance. Nerve hacking is riskier, but If big pharma didn't have a cure for me, I'd say fuck 'em and do it anyway. All that's needed is to identify the specific mutation that causes the genetic disease, and you can do the rest from there.
Crispr kills 1/100th of the affected cells and nerve cells don't grow back, unlike the intestinal lining. That's why nerve hacks are so risky. But it also means it's a more permanent solution if it works. Other gene editing methods are available which work on higher percentages of the cells. But yeah if going that route test it on your cell cultures extensively.
I definitely don't blame you for the numb feeling. Holy hell, you've been put through the wringer.
I don't think anyone can blame you for how you're feeling. Sometimes the only thing you can do is go to whatever's next.
Fingers crossed it all works out.
It may seem unfortunate, but having a diagnosis is an important step. I hope things go well for you.
I have myofascial pain and now ME/CFS as well. I think they may both me autoimmune-related, the doctors don't really know. Been to Mayo once before and considering a second run.
"hugs you tight"
Take it one step at a time, one day at a time, and evaluate what needs to be done first and foremost. Most of all, don't give up.
Woaw that kinda puts my own struggles in perspective. I appreciate you telling us this. I wish I could help you, but I'm definitely rooting for you. Hope things will turn out as best as they can.
I honestly hope you're doing better, it sounded very rough. Thankfully I can see you're still logging in now and then. I check by this page every few weeks. Wishing you well.
5631988
We don't know, I believe they're going through a rough patch. I don't blame them for focusing on mental health and their current situation. I'd love for this story to continue, but their health and well being comes first. :)
5631988
5636930
I will try and put something together tomorrow.
5637023
I meant I'll post a blog tomorrow.
5637044
Sincere apologies. That was not my intention. :(
5636992
I'm glad to hear from you. :)
5637248
Understood, wishing you well.
5642550
I mean maybe they found something and he(?) Is in recovery or something. Maybe he just can't look at a screen because neck angles. You never know!
.... hopefully everything is alright with them.
Hello Klamnei I just want you to know that you don’t have to write a blog post or update for my sake. I don’t want you to feel like you have to for my part at least.
Whether sickness or other real world stuff are taking up your energies, or whether interests have shifted, you should always focus on making yourself happy.
I recently performed a complete archiving of all the stories on Fimfiction (including coverart). I verified that your stories were in there.
Good luck with your health Klamnei and future projects.