Wednesday, April 4, 2012

You're sick? What's wrong with you?

It's getting hard to keep track of the answer at this point. Even people that are aware of my illnesses don't understand how they cause my long and varied list of symptoms.

So, I'm updating the list of things wrong with me and what problems they cause me.

I have Chiari Malformation. This was diagnosed at age 18. It's a congenital birth defect. My skull is too small for my brain. This causes compression of the cerebellar tonsils and the back of the brain. The brain is compressed into the top of the spinal cord, which causes a blockage of craniospinal fluid (CSF). This causes increased pressure in the brain, which causes many neurological symptoms, and a heck of a headache. I've had two operations to treat this, at age 18 and 20. They removed part of my skull and my C-1 vertebra. It is as treated as it will ever be. Surgery is not a cure, but it prevents progression of symptoms. The neurological symptoms of this condition will be lifelong. This includes problems with balance (walking like a drunk person), coordination, cognitive function (commonly referred to as brain fog), memory, concentration, visual disturbances, neck pain, eye pain, jaw pain, spontaneous vertigo, changes in reflexes, etc. etc. etc. A list of symptoms can be found here:

I have Ehlers Danlos Syndrome. It was diagnosed at age 25. I have features of the hypermobile type and the classic type. It is a genetic connective tissue disorder. The collagen in the tissues is weak, fragile, and extra-stretchy. Symptoms of this are known to progress throughout life. Symptoms are seemingly endless, due to the important role that collagen plays in holding the body together and maintaining normal function.
This includes:
-Loose, unstable, and painful joints
-Early onset osteoarthritis
-Easy bruising
-Fragile and weak blood vessels--this causes difficulty maintaining blood pressure and oxygenation of the brain and other parts of the body
-Hypotonia (crappy and weak muscles)
-Muscle and joint pain
-Gastrointestinal dysfunction due to weak lining of the intestines
-Osteopenia/osteoporosis (crappy bones)
-So much pain throughout the body!!!
Wikipedia has a good article on it:
A more scientific explanation can be found here:

I have a form of dysautonomia called Postural Orthostatic Tachycardia Syndrome (POTS). I was diagnosed at age 19. Dysautonomia is a dysregulation of the autonomic nervous system. The autonomic nervous system regulates organ function throughout the body. Heart rate, blood pressure, temperature, digestion, and every other automatic function of the body can be affected. POTS is a common secondary condition related to EDS, due to the crappy blood vessels. It can also be related to Chiari, due to damage to the brainstem.
Symptoms of this condition are also widespread throughout the body. They include:
-Low blood pressure
-Shortness of breath
-Excessive sweating
-Functional bowel disorders
-Bladder dysfunction
-Pupillary dysfunction
-Exercise intolerance
-Body temperature control problems
-Generally feeling sick
A great explanation of this condition can be found here:

I have cranio-cervical instability. This was diagnosed at age 19. When someone with Ehlers Danlos Syndrome has surgery to treat Chiari, the skull becomes unstable. The treatment for this is a surgery called a cranio-cervical fusion. This surgery involves implanting titanium rods, screws, plates, and wires to support the skull by attaching it to the spine. My fusion goes from the skull to C-4. My first fusion was done at age 20. My second was done at age 26. The symptoms of this are devastating, causing complete disability. Symptoms include:
-Headache, dizziness, and nausea upon upright posture
-Severe autonomic dysfunction, particularly upon upright posture
A journal article explaining the connection between Chiari and EDS can be found here:

I have chronic migraines, which are distinct from my other types of headaches. this problem has worsened recently, and is being managed with medications, with some degree of success. Migraines can cause intense headaches, sensitivity to light and sound, pain upon exertion or movement, nausea, and generalized body pain.

I have a tethered spinal cord, specifically Occult Tight Filum Terminale. This was diagnosed at age 24. It means that the bottom of the spinal cord is pulled too tight. This causes nerve damage to the surrounding areas, especially the bowel and bladder. It was treated with a surgery called a section of the filum terminale. They removed part of my L-4 vertebra to access the base of the spinal cord, where they cut the spinal cord to separate it from the spine and relieve the tension. Again, surgery stops the progression of symptoms, but nerve damage is generally not reversible, so symptoms continue.

Sometimes my life is about trying to get better, and sometimes it's about learning to accept limitations and new and ongoing symptoms. Constant management of symptoms, through lifestyle changes, medication, and sometimes surgery is needed.

A problem I find when trying to explain this to people is that these conditions are just not heard of, so people really don't understand how much they affect me.

One way I've been thinking of it lately is comparing it to more common conditions where the symptoms are better understood by the majority of people.

These conditions have similar symptoms to my conditions:
Heart Disease
Irritable Bowel Syndrome
Chronic Migraines
Various neurological problems
Chronic Fatigue Syndrome
Chronic Pain Syndromes
etc. etc. etc.

So, my life is a lot like living with all of those conditions at the same time, plus some other more unique symptoms.

All of this, and many people in my life have no idea that I'm sick at all. I modify my lifestyle to deal with changes. I have to miss out on plenty of activities. But when I'm around people, I usually cover up the symptoms and slap on a smile. I try to hide my shaky hand, my dizzy spells, my racing heart, chills, hot flashes and constant pain. It's better than having to explain all of this to everyone! But it does get exhausting pretending to be healthy.