I have been working on my own personal M theory. Please do consider reading my very thorough medical history and postulation, add anything of merit, and perhaps pass it on to anyone who may have some insight.
[edited and updated from 7 Feb 2011 on 27 Aug 2012]
I’ve a Great Aunt Louise on my father’s side who has the same strong square jaw that I do. She died young of an ectopic pregnancy.
My mother has suffered since childhood from Perthes, which is a rare genetic disorder that effects the growth of the hip joint.
She is a severely scattered person without certain social boundaries, and without certain control. She’d had CAT scans done and was told by a rather reputable doctor that her brain behaved as though she’d had a series of small strokes.
Even though my mother was pregnant at the youthful age of 18, my three month premature birth was attributed to her having a weak cervix. This weakness of lower abdominal / kegel muscles runs in the family, and I’ve an aunt with extreme problems in this region as well, who’s also been diagnosed with Fibromyalgia and has had surgery on her neck due to extremely progressive disc degeneration. (This side of the family also has a history of Tourette’s Syndrome, Obsessive Compulsive Disorder, chronic depression, trichotillomania, and assorted aspergic behaviorisms.)
As a child, I was clumsy. Accident prone. As a toddler I fell down stars and broke my arm. I fell off a fence in Disneyland when I was 5 and had stiches on my head. I fractured my tailbone twice in elementary school. I fell off a swing once, and fractured my sternum. It didn’t heal for years, and I could pop it back and forth with noise. My mother suspected physical abuse at some point because of the degree of bruises I always had. Nope, just a rambunctious yet clumsy tom boy who is VERY prone to bruising.
Elementary school years discovered scoliosis. By junior high, I had an occasional limp and heel pain, attributed to tendonitis. My joints would make audible grinding sounds when I rolled my shoulders - something one could hear across the room. I’d do it to gross out other kids. My joints made popping sounds when I rotated my ankles, so much so that while on vacation, unable to sleep, laying in bed in my hotel bedroom and absent-mindedly spinning my ankles, my mother heard the sound through to her adjoining room and came in alarmed, thinking the pops and cracks were the sounds of an electrical fire.
My knees sounded like popcorn when I kneeled. My back and shoulders began to constantly hurt. My back would have numb spots. My rib hump began it’s continuing and everpresent pain. Visits to the chiropractor’s masseuse were met with shock when they told me that I’d had muscle spasms. I didn’t know that was rare or wierd. I’d always had small bits of my body suddenly start to twitch and flutter. My tonsils were always inflamed, and every sickness I caught brought with it a deathly painful sore throat.
The rare times I was brought to a real doctor and they pressed on your abdomen, I remember it hurting. I didn’t realise I was supposed to say anything. I thought you were supposed to sit and take the discomfort when they pressed. All this before highschool.
My teenage years brought trouble sleeping, awkward circadian rhythm, trichotillomania, irregular menstural cycles, constant pain, fatigue, blue veins showing through skin all over my body. My once tom boy nature dissipated, and I had no endurance. I always felt ill in some way. Also, it turns out, I’m terribly short. I am the shortest blood relation on either side of my family, far more than the scoliosis would account for.
(i am second from the right. the short one with the square head.)
By age 19, I started to go suddenly crosseyed with my right eye turning in, and my right arm began a near constant ache. Visual disturbances (possible opthomalogic migraines) began, especially when in sunlight.
Panic attacks grew frequent, as did my hirsutism. I could no longer concentrate, I started to get lost on roads I’d traveled before, easily confused even in my home town as to which way to start, couldn’t keep my right from my left, and began to see what I thought were hallucinations. My vocabulary and ability to express myself began to wane.
Neuropathic pain (zapping, stabbing, buzzing, pins & needles), always worse on the right side, started to set in my extremities with my early twenties. Varicose veins, large blue ones, began to appear on my right leg, which also began to ache horribly. My right side continued to weaken, some muscle wasting seen on the right side, the asymmetry most obvious with regards to my tricep, calf muscle, and hand.
At age 26, walking down the sidewalk, I suddenly heard a high pitched click, and was in such severe pain that I could no longer put any weight on my left ankle. A tendon on the inner face of my ankle had snapped or something, but having no insurance, I was left to use crutches or hop for a number of months. It never healed properly, and if I run, sit on my heels, or even just walk too much, the injury will present itself again.
My hands would tire out and not grip if I used them too strenuously. My hands and feet would cramp shut if I used them too much - even when just doing laundry. My hip joints began to pop (but do not dislocate), and often cramp. Actually, by this point, every single joint on my body popped, cracked, snapped. Knees, toes, wrists, hands…. My toe joints began to swell and itch and ache on occasion. My heat intolerance, which started to become an issue when I was a teenager, continued to worsen. The lightheaedness and weakness and shakiness that always accompanied temperatures warmer than 80F became debilitating in many situations.
Though my crossed eye was surgically improved by a surgery to shorten one of the stretched out and weak eye muscles, my vision continued to get worse.
Colors were not always seen correctly - seeing flashes of red where there should be green, seeing patterns of color when there was flat grey. My right eye sees significantly less color saturation, especially warm tones, and less contrast. My pupils started to dilate unevenly and off-center. When going from a bright environment to a dark one, my right eye will be mostly blind for a good five minutes. Trying to see the moon, even with one eye closed, is always a doubled blur. Also, light sources often have foggy halos around them. My right eyelid and brow began to droop slightly. This worsens when I exert myself; when engaging in exercise, it grows more difficult for me to see.
I started to get spider veins on my upper arms, my face, and even on my right shoulder blade. Tinitus began to whine in my ears. Sharp tight pains would come without warning right at my sternum. My eyes and nose became painfully chronically dry, so much so that I’d wake in the night and have to apply eye drops.
The area between my collar bone and breasts was almost always in a state of subtle tiny bumpily breakout. The skin around my nose would often turn an orange-ish color. My rings would not fit me when I’d wake up in the morning. I’d urinate with ridiculous frequency, usually waking twice a night to do so. I noticed a smattering of new dark freckles appearing on my trunk. My hair started to thin and fall out.
I had more and more dizzy spells, and actually had one incident where I fainted, twitching/convulsing while passed out, and once roused, kept continually fading away while being escorted to where I could lay down. Once laying flat, there was a great rushing sound in my ears.
After many tests, and even a spinal tap (which took a week longer than normal to heal), it was confirmed that Lyme Disease was NOT the cause of my symptoms. Then, ironies of ironies, shortly after moving to Northern NJ two years ago, I was told that I had caught Lyme Disease on TOP of all of this I’d already had wrong with me. More burning joint pain, more fatigue, and intense brain fog… but the most severe symptom I’ve suffered is a constant agonizing and debilitating pressure at the back of my head. For the better part of a year I was virtually bedridden, unable to sit upright for more than 15 minutes at a time, due to the terrible pressure headache. For six months straight I’d taken antibiotics, and I still haven’t completely kicked the recurrent brain swelling headaches. A recent test showed that I do not have Lyme active in my system, but the brain swelling headaches remain. With every sudden change in barometric pressure, and whenever overheated, the back of my head pounds. What I did not realise until this point was that the headaches I’d gotten my entire life at the back of my head from laughing excessively or smiling too much were abnormal. These have continued, and have worsened from my experience with Lyme Disease.
Brain MRIs have noted some irregularities in the shape of my pituitary.
Brain MRIs have shown a minimal protrusion of my cerebral tonsils into the foramen magnum (the back of my brain is poking out of the hole of the base of the skull), which is called a Chiari Malformation. (I’ve had two doctors affirm that I do have this cerebral herniation, but I will have to find a specialist in this disorder to get a doctor to admit that it may be the cause of my symptoms, since most judge it by the amount of “pokey-outey” instead of the increased intercranial pressure, which is the real culprit of symptoms.) My dozen or so brain MRIs have shown no evidence of MS.
Through ultrasound imaging, it was determined that I have poly-cystic ovaries, and thus, have poly cystic ovary syndrome. This is a condition of hormonal irregularity, which not only effects the reproductive system, but is a wide spectrum of hormone imbalances - often considered “pre-diabetes” because of the effect on insulin. It took a great many years to discover this because usually women with this condition are significantly over weight. I do, however, have an impressive degree of male pattern hirsutism which has been growing ever steadily worse since puberty, and continues. The hair at the crown of my hairline has begun visibly thinning these past five years as well.
My scoliotic curve is in the grey area between necessary and unnecessary with regards to surgical intervention. My scoliosis is, however, very unusual. I’ve a misshaped verterae, causing an atypical sharpness of a curve in my upper back, which is also in an unusual location. (Suspiciously, this vertebrae is directly behind my fractured sternum.) I therefore have three curves instead of the usual two. My scoliosis has been repeatedly determined to NOT be severe enough to be causing the myriad of debilitating symptoms I have.
The doctors find it likely that I was born with some disorder; something genetic, something rare, etc.
The turn in of my right eye is attributed to a 6th nerve palsy, the underlying cause of which remains undetermined. Visual Evoked Response testing showed great irregularities in how information is transmitted from my eyes to my visual cortex in BOTH eyes. A Visual Fields test showed blind spots more prominent in my right eye. An EMG test showed lessened neurological signal in my right arm compared to the left. Glaucoma drops have lessened the blur and double vision of my eyes when used individually. Hearing testing shows some loss of range in my left ear.
Over the past ten years I have slowly developed a strange series of about six skin bumps which have only appeared on my right arm. They have continued to appear one by one, and seem to be doing so in some kind of pattern or path. I would think it was connected to my other issues, since the right arm is where the limb pain first started and has always been worse.
Tests again and again for MS and rheumatoid factor have come back negative. I was once informed that I had a heart murmur, but no doctor since has made note of that. I have chronically low temperature and blood pressure (and iron - which was sort of enjoyable since I had a doctor tell me to eat more red meat and salt!) A rheumatologist discovered that I had severe vitamin D definciency, the levels of which she said she’d not seen in anyone that wasn’t a resident shut-in of an old-folks home. Recently, however, being tested for Lyme, it was discovered that I no longer had Lyme, and may never have had it. It is now considered possible that I have some rare sort of auto-immune disorder. It is similar to Lupus, as my ANA test came back positive, but unlike Lupus where the Complement Levels (an immune system component) of both C3 and C4 are low, my system shows only my C3 level as low. So, this points to something of immune system (or underlying genetic impairment) as opposed to infectious disease.
A neurologist, examining me and pressing on the thumb pads of my hands, noticed how much weaker and atrophied my right was and suggested perhaps I had syringomyelia. Those tests were never carried out, but I imagine it would have shown up in my MRIs (unfortunately, unless it’s glaringly obvious, radiologists rarely find things that the doctor has not specifically stated he/she is looking for).
Doctors have also diagnosed me as having: degenerative disc disease, spondylolisthesis, neuropathy, organic brain disorder, irritable bowel syndrome, protruding discs (3 to 5, depending on the radiologist report).
I had sent my MRI records and questionairre to The Chiari Institute four years ago, and they’d wanted to see me. I was unable to afford the visit. Recently, now with Medicare (the only insurance they’d accept), I applied once more. They told me they could not take me as a patient. When I inquired what the change was, I was told “new protocol.” Coincidentally, they recently began taking commercial insurance for the first time. I asked for a review of my case, which supposedly took place, but they’d returned my MRIs to me already. The only thing that changed between then and now is my insurance coverage, and their insurance coverage practices. They maintained their stance, but haven’t told me that I either do or do not have the Chiari Malformation. Frustrating.
I had been tested previously for Myasthenia Gravis, but a recent visit to a new neuro opthamologist has rekindled the possibility, and I was told that I should again be tested. However, the office has claimed that I have no future tests called for, so I’ve no idea.
I believe I was born with a genetic / auto immune disorder that effects connective tissue. The first possibility is Ehlers Danlos Syndrome, which happens to be a connective tissue disorder which is comorbid with / underlying cause for a Chiari Malformation.
There are many different varieties of EDS, the most common being the hypermobility sort, when people can stretch their skin and bend their joints in unnatural ways. I do not have the hypermobile joints, though I can easily bite my toenails or grasp my hands (one over one under) behind my back, and that’s in spite of my scoliosis, hump back, and crunchy joints. However, there are other types that don’t involve such severe “circus-tricks”, all of which effect the joints and vascular system in varying degrees.
A person might have features of more than one type of EDS. A woman with EDS has an increased risk of miscarriage, premature rupture of membranes, premature births, cervical incompetence, and pre-mature labor.
In my case I would most likely have the Vascular variety. People with the vascular version of the disorder “have thin, fragile skin that bruises easily. Veins are visible beneath the skin, particularly on the chest and abdomen, and hands and feet may have an aged appearance. Unlike people with other forms of Ehlers-Danlos syndrome, people with the vascular type have skin that is soft but not overly stretchy. Other signs of the disorder include tearing of tendons and muscles, painfully swollen veins in the legs, and slow wound healing following injury or surgery, all of which I suffer. Those with the kyphoscoliotic type of EDS may present with retinal detachments, microcornea, myopia, scoliosis, and optic damage.
Other general symptoms of EDS listed in medical literature of which I exhibit:
- attached or complete lack of earlobes (of which I have both)
- very soft, smooth skin
- facial skin is very resistant to wrinkling (I am continually accused of being ten years my junior)
- chronic dull joint and limb pain
- teeth are too soft and prone to decay (my last visit to a dentist I had 24 cavaties filled and a tooth pulled)
- resistance to narcotics, sedation, many toxins (oh yes)
- dry eye syndrome
- tendency to develop neuropathic pain
The EDS would make my bones less resilient, and so, when I traumatically fell and fractured my sternum (which takes a great deal of force), it’s rather likely that I fractured a vertebrae as well, which would may have cause the wedge-shaped malformation, and thus, the scoliosis. Had I been born with a malformed vertebrae, my scoliosis would have been far more pronounces in early childhood. Instead, it was only discovered in the middle of my grade school career.
As I’d mentioned previously, EDS is a connective tissue disorder which is comorbid with / an underlying cause for a Chiari Malformation. A Chiari Malformation could cause asymmetrical herniation against the brain stem, pinching the Abducens (6th) Nerve which controls lateral movement of the eye, and putting general pressure on the left side of the brain, weakening the entire right side of my body and left ear.
The increased intercranial pressure would have a flattening effect on the pituitary, skewing my hormones and altering it’s shape, hence the asymmetry noted in my MRIs. The supra chiasmic nucleus, which is smack dab next to the pituitary, is in charge of circadian rhythm, and would ALSO be affected by this. The increased pressure would also slowly damage and destroy my other brain/eye tissues, explaining the abnormal Visual Evoked Response Test results of how information from my eyes reached the back of my brain, as well as the tinnitus and hearing loss. Also, a wonky pituitary is the most likely explanation for my extensive facial hair, thrice yearly menstruation, short stature, and manly jawline.
Or, the other possibility….
is that I do not have Ehler Danlos Syndrome at all, but rather, a pituitary adenoma that has been small and subtle enough to cause no life threatening issues, but instead has over-grown just enough to crowd and mess with the same aforementioned brain bits, mess with my optical nerves, and also provide me with a lifetime of improper hormonal balance which resulted in a non-descript mixed connective tissue disorder, which would result in most of the same symptoms as EDS.
Or, another possibility …
is that perhaps the skin bumps on my arm are a sign of some kind of Neurofibromatosis, following along the path of some nerve. NF causes growths on skin, organs, and nerves, and usually does so asymmetrically. This would explain the right sided pain and numbness. Neurofibromatosis can cause dystrophic scoliosis, in which there are typically shorter, more sharply angulated spinal curves, like I have. Characteristics of dystrophic scoliosis also include a number of bone abnormalities, including thinning of the ribs, significant rotation of the vertebrae, vertebral wedging, and erosion of the vertebrae by the spinal fluid, due to the poor quality of the bone. This hereditary disorder can cause pituitary adenoma, the vision problems, and could fill the same niche that EDS does as a cause of the spinal/cranial instability that often leads to Chiari Malformations. Neurofibromatosis also causes ectopic pregnancies, which might point to a hereditary line, given my great aunt with the square jaw (like mine).
Regardless of the pituitary/EDS, if there is indeed a “borderline” Chiari Malformation, it would have been slowly and imperceptibly pressurizing my brain, which got kicked up into high gear when under extreme emotional and/or physical stress by triggering the Lupus-like autoimmune disorder. Lupus causes tissue swelling, and has been known to cause encephalitis. In my case, being that I already HAD increased cranial pressure, the Lupus/Lyme Disease/whatever pushed it to a tipping point that left me with agonizing headaches that far surpassed any other symptoms.
Also comorbid with Ehlers Danlos Syndrome is Postural orthostatic tachycardia syndrome (POTS). This tachycardic response from change in head posture is sometimes accompanied by a decrease in blood pressure and a wide variety of symptoms associated with hypotension. This low blood pressure would explain my lightheadedness, fainting, tinnitius, brain fog, shaky hands, brain fog, chills, overheating, etc.
Tourettes / trichotillomania / OCD / ADHD / schizophrenia also runs in my family, and I imagine that the faulty genes are just prone to further mutation, and opens the door to a condition like this.
Another possibility to add to the mix …
is that if I do indeed have the Vascular Ehler Danlos Syndrome (or any other similar genetic connective tissue disorder, which generally also effects the strength and viablilty of the vascular system), it may have caused me to have a series of small strokes, much like my mother was suspected of suffering. This would explain sudden onset of vision symptoms, without having the protrusion neccessary to qualify as a true Chiari Malformation. EDS may or may not be difficult to distinguish from Lupus, which makes it a far higher possibility given recent tests.
Another possibility is that I do have a hard to diagnose case of Myasthenia Gravis, which often seems to mimic Chiari Malformations, and vice versa.
Regardless, I imagine it makes a great deal of sense to you, dear readers, why I felt it was undeniably necessary to get myself sterilized. Hah.