I'm a medical mystery of chronic illness. I've got scoliosis, neuropathy, strabismus, asymmetric muscle wasting, a whole lot of pain, and a host of other symptoms. Whatever the cause, it's similar to MS, Ehlers Danlos, Fibromyalgia, Chiari Malformation, etc. I've been on my own looking for answers for 17 years. This is where I rant about it all.
UPDATE: Fancy doctors, painful tests, possible progress.
Earlier this week, I saw doctor Dale Lange: Chairman of Neurology and Neurologist-in-Chief at Hospital for Special Surgery, Professor of Neurology at Weill Medical College of Cornell University, Attending Physician both at Hospital For Special Surgery and NewYork Presbyterian Hospital‘s Weill Cornell campus, and President of the New York State Neurological Society. As you can imagine, he is difficult to see, like a House type fellow. He had to be sent the notes from other doctors in his circle and find me interesting before they’d let me make an appointment. I went in for four hours of testing and consultation. For most of the visit, I was interviewed and tested by white-coat doctors. Three different doctors performed Single Nerve Fiber EMG tests on me, where they stuck needles deep into my flesh to hit nerve/muscle junctions (fucking GAHHUUUrrrghHH) and listen and look at the wave forms of electric signal passing through. It was really quite painful, and I’ve got quite a tolerance for pain. After hours of this, Dr. Lange came in (sans white-coat), and was recited my entire medical history by one of the white-coats from memory. He was brusque with her, but entirely thorough. He noted the muscular atrophy of my right hand; something few doctors do. He explained to me his thought process and what further tests would be looking for, and did so in a way that was neither condescending nor obtuse.
I interest him.I have a whole new battery of tests to get. He is most interested in a test I had years ago; an Evoked Potential test that showed an abnormal response, meaning that the path of information taken from my eyes to my visual cortex is more circuitous and different than it should be. This indicates some degree of brain damage. It is still in the air whether or not the cause of this is a congenital issue (making sense due to my extremely premature and low-weight birth) like something mitochondrial or inherited, or if it’s an illness/disorder I could actually battle and rectify.
Is it Myasthenia Gravis? Possibly. Something that LOOKS like Myasthenia Gravis? More likely.
Somethings that look like Myasthenia Gravis are: MS, Chiari Malformation, Lupus, Fibromyalgia, all of which I’ve been tested for. I’ve now entered the foray of weird and rare disorders. I’m a one in a million.
I have still not discounted Chiari. When I mentioned this possibility to the doctors they discarded the notion saying that Chiari Malformation would not explain the visual symptoms, which is entirely incorrect. The cerebral tonsils’ blocking the egress of the Foramen Magnum causes an increase of cranial pressure that damages soft tissues such as the optic nerves, and often manifests asymmetrically. That being said, the possibility of Myasthenia Gravis is far more appealing. If I had the auto-immune variety of MG, a thymectomy could possibly cure nearly all the symptoms. If that were the case I might end up with a crazy scar that looks like I went through an autopsy (though they usually do it all endoscopic-like these days). BADASS.
I have a prescription for Mestinon, which is essentially a low dose pill version of the drug Tensilon, showed in the video below. Mestinon and Tensilon both reduce the effects of Myasthenia Gravis by preventing breakdown of the neurotransmitteracetylcholine, giving more opportunity to damaged/ineffective neuro-receptors to receive signal. A positive response to an injection of Tensilon is an almost sure fire indication of auto-immune Myasthenia Gravis, and does, in some cases, also respond to the congenital variety of MG as well. It is frustrating that I have to take these pills on a slowly increasing dosage for a number of weeks to see if I have a positive reaction instead of the instantaneous indication of injection. Especially since my symptoms fluctuate so much on their own accord, it will be difficult to determine if the drug has any real effect on me.
Unfortunately, the recent needle test on my nerve signal was seen to be relatively normal, without the tell-tale weakness from hours of exertion that would normally been seen with Myasthenia Gravis. This time I was only tested on my right (bad) side. When I had a similar test many years ago, I was tested on both sides and it was found that my right side was significantly weaker than my left. It was for this reason that I’d been seeking a more structural underlying cause than something chemical. However, every spine specialist and every X-Ray and every MRI (and there’s been a lot of each) has told me that my scoliosis has nothing to do with most of my long list of symptoms. This makes something chemical or genetic much more likely.
Regardless, I have doctors who are interested in me, who have looked closely enough to determine that there are ACTUAL and QUANTIFIABLE deficiencies in my underlying physique and neurological function, and are willing to do the weighty amount of leg work to figure out the cause.
(Day 2 of Mestinon. I’m on eye-lid patrol, seeing if my right-sided blinking lag starts to lessen, if my eyebrows become more asymmetrical in position, or if the diagonal forehead wrinkle striaghtens out. No sign yet.)