Monday, March 23, 2009

My Story: An Overview

Here is an overview of the conditions I have:

Chiari Malformation: A skull malformation. My skull was formed too small, causing pressure in the back of my head, and a blockage of fluids that should flow freely in and out of the brain.

Ehlers Danlos Syndrome (EDS): A connective tissue disorder. The main things affected in me are my ligaments and veins. My ligaments are looser than they should be, causing certain joints to easily dislocate. My veins and arteries are also lax, making it difficult for blood to be pumped the way it should.

POTS: An autonomic dysfunction. My autonomic nervous system malfunctions, causing problems with all involuntary functions of the body. This causes difficulty standing, due to my heart rate and blood pressure not reacting properly to the effects of gravity.

Tethered Cord Syndrome (TCS): A spinal cord malformation. My spinal cord is anchored in place, not allowing for it to move freely within the spinal column.

Cranio-Cervical Instability/Cranial Settling: When EDS and Chiari join together, the skull-spine joint often becomes unstable, due to loose ligaments in the neck. This causes trouble swallowing, nausea, heartrate abnormalities, and other autonomic dysfunctions.

Vitamin D deficiency causing Osteopenia: The theory is that a severe vitamin D deficiency has lead to my bones becoming brittle at a very young age. This osteopenia would lead quickly to osteoporosis without treatment. It also makes the fusion of bones more challenging.


constant pressure headache (pushing out around the skull)
the "fallen halo" headache (pain in a ring around the head over the eyes and temples)
sharp pains above and behind the eyes
facial pain through cheekbones
jaw pain--tires easily, making it difficult to chew
eye pressure/pain
Usually worsened by light and low sounds

Nausea--Nausea can be caused when there is increased pressure on a certain part of the brain. It is often worse when I am upright, and relieved when I lie down.

Back pain--I have pain throughout my spine. This is caused by the tethered spinal cord and the loose ligaments holding my spine together.

Fatigue--I require a great deal of sleep. If I don't get enough sleep, my symptoms will worsen, leading me to return to bed and get more sleep. Basically, I am a slave to my body. If it wants more sleep, it will get it. I have to spend most of the day in bed most days.

Tachycardia/Low blood pressure/fainting--After being upright for too long, my heart races and my blood pressure drops. I get out of breath very quickly, and sometimes faint. Sometimes for no reason at all, my blood pressure gets very low, and I can fall into a state of reduced consciousness.

Heavy head--Due to the instability, I have difficulty holding my head up. I'm a living Bobble-head. This is very tiring and leads to severe muscle spasms in my neck from trying to support my head, since the ligaments aren't doing their job.

Joint pain--I have pain in all my joints, especially my knees and hips. This is sometimes severe enough to prevent me from walking. It is caused by EDS and hyperparathyroidism.

Difficulty swallowing--I am more and more frequently having choking spells, when I inhale a food or liquid, and my airway closes. I'm also having trouble swallowing pills. I swallow pills past my throat by arching my back and bending my chin to my chest, but then they sit in my esophagus. The muscles don't constrict well enough to help completely swallow. This is caused by worsening cranio-cervical instability.

Tingling in hands, face, and feet

Temperature dysregulation--I am very sensitive to changes in temperature. I get the chills or overheat easily. I also get confused temperature states, when I feel hot and cold at the same time, which is really uncomfortable and unsettling. I also have cold feet all the time!

Gastro-esophageal reflux--My acid reflux doesn't seem to react to medication anymore.




Midodrine- to constrict my veins, to help improve blood flow
Salt pills- to force my body to retain more fluid, which raises blood pressure
Provigil- to fight fatigue.
Diamox- to decrease the production of cerebro-spinal fluid, decreasing pressure in my head
Vitamin D (50,000 units/week)- for vitamin D deficiency and osteopenia
Citracal- calcium supplement, for osteopenia
I take other medications, but these are the major ones.

I've already had three major operations, but obviously, I'm not better yet.

In July 2002, at the age of 18, I had a posterior fossa decompression surgery. This involved removing part of the base of my skull and the back of my C-2 vertebra. I felt much better at first, but started to get worse again after a couple months.

In December 2003, the day after my 20th birthday, I had a cranio-cervical fusion. Titanium rods were bolted to my skull and screwed into my top 4 vertebrae. This was intended to fuse my skull in place atop my spine.

After that last surgery, I worked very hard to recover. When symptoms didn't improve, the doctors said that nothing else could be done. Then, I began to search online for more answers. This led me to have another set of MRI's. I sent these to my doctors at The Chiari Institute in New York. It was confirmed that I have an occult tethered spinal cord. It was also found that I have an inadequate fusion.

In June 2008, I had a section of the filum terminale operation to de-tether my spinal cord. This released the tension in my spinal cord. My bladder function has become more regular. This surgery also prevented a worsening of lower body symptoms that could have occurred over time or after further extraction of my cervical spine.

I will require a revision to my current cranio-cervical fusion. This will reset the position of my head, allowing for greater stability. I'll get my next bone scan in early May, and then I will be waiting for the approval for surgery from Dr. Bolognese. If my bones are strong enough, I will have surgery done at the beginning of this summer.