I thought it may be helpful to try to explain the illnesses that I have and the treatments that I am hoping to have. This is in no way intended to be a "woe is me" as I do know there are many people who are far more ill than myself. However, I thought I would quite like to use my own, tiny corner of the blogsphere to raise awareness and give some information.
This post has taken some time to put together as I wanted it to be medically correct, rather than simply my own experiences.
This is a fairly rare illness, probably the least well known one that I have and what has caused the other two.
Chiari malformations (CMs) are structural defects in the cerebellum, the part of the brain that controls balance. Normally the cerebellum and parts of the brain stem sit in an indented space at the lower rear of the skull, above the foramen magnum (a funnel-like opening to the spinal canal). When part of the cerebellum is located below the foramen magnum, it is called a Chiari malformation.
CMs may develop when the bony space is smaller than normal, causing the cerebellum and brain stem to be pushed downward into the foramen magnum and into the upper spinal canal. The resulting pressure on the cerebellum and brain stem may affect functions controlled by these areas and block the flow of cerebrospinal fluid (CSF)— the clear liquid that surrounds and cushions the brain and spinal cord—to and from the brain.
There are several different types of Chiari and I am not entirely sure which one I have. I was initially told I had Type I because it is the only type where you don't become symptomatic until adolescence or adult-hood, if ever. My current Neurosurgeon stated in his most recent letter that I have Type II, so I don't know. Symptoms include dizziness, insomnia, depression, hearing loss, migraines, headaches made worse by coughing, sneezing or straining and balance issues. I have each of these and have done ever since my early teens, although my hearing loss is from birth. Whether that is related to Chiari or to my traumatic arrival into this world we don't know and are unlikely to ever know.
There is no cure for Chiari. The best we can hope for is quite major decompression surgery which involves removing a part of my skull to make more room. Recovery from this can take anything from a few weeks to several months or even a year or more. This is not a cure, it is merely to prevent symptoms worsening, possibly ease the current ones and to prevent paralysis. There is even a risk of paralysis or death in having the surgery. However, given the rate my symptoms are progressing and the inevitability of ending up in a wheelchair, I feel it is a risk worth taking. I can hope the surgery will ease my symptoms but this is only a 50/50 chance.
The term hydrocephalus comes from two Greek words. "Hydro" meaning "water" and "cephalus" which means head. It used to be referred to as "water on the brain". My hydrocephalus is thought to have been caused by the Chiari. This is because that has caused a blockage which prevents the flow of CSF to the spinal cord. Effectively the vast majority of my CSF is around my brain. CSF carries nutrients which are essential for the function of the brain and also carries waste products away from the tissue in the brain.
The brain is usually very good at maintaining the right balance between the CSF that it produces and that which it absorbs. Hydrocephalus occurs when there is an imbalance between the amount produced and the rate at which the brain absorbs it back.
It is most likely caused by the Chiari which blocks the entrance to my spinal cord.
For hydrocephalus, it is normal to insert a shunt, which drains the fluid away from the brain to another part of the body where it can be re-absorbed. However, since these are mechanical devices, prone to failure, my own neurosurgeon would like to perform what is called an endoscopic third ventriculostomy (ETV). Here, he will make a small cut in the base of my third ventricle which should then enable the CSF to flow more freely. If this doesn't work, I will need a shunt. All of this is assuming I can have surgery in the first place. I had my pre-op assessment a number of weeks ago and it has been decided that I need to have a heart scan and see a cardiologist, hopefully I will then get the all clear!
The spinal cord is usually solid, passing down the back, inside the spinal canal. It connects the brain to the rest of the body, passing signals to and fro, enabling an individual to move his or her limbs at will, to feel objects and to control various bodily functions. Within the spinal canal, the cord is bathed in CSF.
Syringomyelia is a disorder in which a cyst or cavity forms in the spinal cord. The fluid from which these cysts or cavities are formed is similar to CSF. Over time, syringomyelia can lead to paralysis. Otherwise it can cause pain, weakness and stiffness in the neck, back and shoulders. A a person with syringomyelia can also lose the ability to feel extremities of hot and cold, particularly in the hands and feet.
My own cavity is pretty much the entire length of my spinal cord. As such I have very little protection of my spine and have now been advised against white knuckle theme park rides (which I love!), sky diving (on my Bucket List), bungee jump (also on Bucket List) and trampolining. My NS advised that even a relatively minor shunt in a car accident could cause a huge amount of whiplash, or worse, to me.
Diagnosis is HARD!
I think part of the reason it is extremely difficult to get diagnosed with these conditions is because the symptoms and the impact they cause varies so much. Not just from one patient to the next but from one day, week to the next for each patient. From personal experience, I can be totally fine (well fine for me) one day and will spend that day doing normal activities; chores, the nursery run and a trip to the park. I may also do dinner that night. Then the next day it will take all of my energy, teeth gnashing against the pain, to do something as simple as go to the toilet. Having just one good day, wanting to make the most of that, can then mean I am confined to our room for days on end. Perhaps I shouldn't push myself so much on the good days but it is hard not to when you want to make the most of those good days.
I hope this has given you just a bit more information and knowledge of this thing that is Chiari. Most of us Chiarians will have at least one, if not both, of the other disorders too.