Hi Isabella, welcome to the forum.
I understand how overwhelming it feels to not know what is wrong, and the Great Unknown can loom large.... So you need to hang out with us, because we're all about confronting our monsters, and trying to have a good time with each other while we're at it.
There are a lot of wonderful, caring people on here.
I have not gone to the Yale clinic, however I did initially start with voice problems. That and some breathing oddities.
I wish I knew more about the Yale facility so I could help out with what to expect.
I'm assuming that you've been having laryngoscopic examinations of your vocal cords. (those are fun, right?)
I would not think that you will have this done at the Yale clinic, but you should make sure that they have the reports from it, if possible each time someone took a look at your vocal cords for the sake of a timeline. In fact any tests you had run, if you can obtain the actual materials, MRI films, the physical slide if a biopsy was done, rather than just the report. Often times when one goes to a big facility like the Yale Clinic, they will want their own pathologist, etc to interpret results.
If you've had a brain mri, the doctor you see there might still want for you to have another more specific mri of the brain stem only. My neuro referred to it as a coned down MRI, but that most likely is not the official terminology.
If you have problems in the throat area, those muscles are controlled by cranial nerves in the bulbar region of the brain stem. These are called lower motor neurons. There are 12 pair. In the motor region of the cerebral cortex are the same number of pairs of what are called upper motor neurons. So, if you have weakness in that area, it can be from either the cranial nerve that operates the muscle (lower) or a mis-communication between the upper motor neuron and the lower motor neuron., or a combination of both upper and lower.
There are other diseases that can cause problems here other than ALS.
Myasthenia Gravis is one treatable condition. Other autoimmune (inflammatory) conditions can infiltrate the nervous sytem, they too are treatable.
Peripheral neuropathy can also affect the throat, face and mouth region. Sometimes neruopathy is treatable, and other times it resolves on its own...
The nerves that usually are affected in motor neuron disease, are cranial nerves 7-12, skipping the 8th.
Sometimes more than just motor function of the nerve is affected. For example; people will have too much saliva, or less commonly (me ) dry mouth. The way they explained it to me was that although it is a disease of the motor neurons, it does not limit itself to just motor neurons 100% of the time,
Have you had an EMG performed?
Have you met with a speech pathologist and gone through a modified barium swallow study?
I did have an EMG of my vocal cord muscles. It was done at Mt Sinai in NYC, and apparently this is one of the few places that do this on any sort of regular basis. I attend the ALS clinic down at Johns Hopkins in Baltimore, and even they don't routinely do vocal cord EMGs.
I underwent a surgical procedure last November to address the problem of vocal cord atrophy. My laryngologist injected them with filler (similar to collagen cosmetic wrinkle filler). I'm not aware of anyone else currently active on the forum that has had this done, although there may be, and the subject just hasn't come up.
The procedure did fix the gap due to my vocal cords being bowed, however it did not improve my voice. It is not understood by anyone why it didn't. At this point, the filler has pretty much all been absorbed by my body (as expected ) and right now there are no plans to repeat it.
I don't know, as a new member, how soon you will be able to view photos posted by other forum members, but, once you've been around long enough, or posted enough, (I'm just not sure of this forum's criteria) you can click on my user name, Rose, and on my profile page I've created a photo album open for public viewing. The title of the album is actually "lip atrophy" but I did include a fairly recent photo of my vocal cords.The atrophy, especially on one side is easily seen.
As far as my particular situation, a lot is just not understood. At this point, I have a diagnosis of progressive bulbar palsy, and "probable" motor neuron disease. The distinction is that I do have bulbar palsy, which means weakness, but it is not definite that the cause of the weakness is due to motor neuron disease. All other known causes have been ruled out however.
Why its been different than most others with bulbar onset of ALS, is that my voice is much more affected than my speech. I do have some speech problems, particularly a lisp, worse some times than others. I also speak slowly now.
My voice is hoarse, breathy, and I cannot project it. The lack of projection and weak expiration is one of the key points that is not really understood, as far as I can tell by my doctors (or me LOL)
I have a weak soft palate, weak swallowing, weak eye closure, weak lower lip and tongue, both with atrophy.... then there's the swallowing mis-coordination, and some esophageal problems ~ sheesh, this sounds so bad reading it, but honestly I'm really pretty normal seeming if you were to meet me on the street, you'd think I just had laryngitis, and perhaps a couple of drinks due to some slight slurring, but its still not overt. I have to repeat what I say fairly often, but that is just due not being able to project my voice, rather than sounding garbled.
I first started thinking something was 'off" in the late spring of 2006. I mainly just had severe fatigue, and ropey white saliva at times (yuck). I had dry eye and dry mouth. By September of 2006 I had some breathing issues, and started to sound hoarse at times.Other than the fingers of my right hand being stiff and getting stuck in position if I tried to open a tight bottle cap, all of my problems that I noticed were confined to the throat and mouth region until late spring, early summer of this year. Recently, my legs went from "perhaps" feeling a little weak by the beginning of July, to being definitely weak with fasciculations and cramping in August. My arms are a little weak, and my left wrist is more than a little weak.
I have a diminished, almost absent gag reflex, brisk reflexes elsewhere, brisk cross detector at the knees (whatever that is!), no clonus. I do have difficulty walking, standing for periods of time. So far no orthotics to help, I have the prescription for them, just haven't brought myself to take that step, no pun intended, yet. My left wrist is also weak.
I hope t his is helpful to you. Please don't ever feel you're alone, and no matter how unusual it may feel to you and your family/friends, that its taking so long to get to the heart of the matter, and a diagnosis; it really is just the way it goes for most of us.
Good luck, and I look forward to seeing you here.
