For those of you that don't know about my diagnoses-especially my family and friends-I thought I would explain a bit.
Syringomelia I was first diagnosed with a syrinx which is a fluid filled cyst that forms in the center of the spinal cord. If you have a syrinx then you have syringomyelia. Syringomyelia is defined as a serious neurologic disorder where a sryinx develops inside the spinal cord stretching the cord and damaging nerve tissue. Basically if the cause is not dealt with the syrinx continues to expand and destroy the spinal cord from the inside out. My syrinx runs from C3 to T9. Common symptoms of syringomyelia is pain in the neck, shoulders and back, numbness and weakness in the arms and legs, and inability to feel hot and cold.
http://www.asap.org/syringomyelia.htmlChiari Malformation Pronounced (Kee-AR-ee) The Chiari I Malformation is considered a congenital malformation(present from birth), although there have been some reported cases of an acquired form. It is characterized by a small or misshapen posterior fossa (the compartment in the back of the skull), a blockage in the free flow of the cerbrospinal fluid and a protrusion of a portion of the cerebellum (called the cerebellar tonsils) through the bottom of the skull (foramen magnum) into the spinal canal. The tonsils would normally be round but often become elongated as they protrude down the spinal canal. Diagnosis can be difficult because not all patients will have the classical sign of deeply herniated tonsils.
http://www.asap.org/chiari-malformation.html My tonsils are only slightly herniated but I have all of the most common symptoms. The problem in Canada is that slight hernations are not being recognized as a Chiari Malformation. All the new research points to the fact that it does not matter how herniated the tonsils are it is the amount that the CSF is blocked and the resultant symptoms.
When symptoms are present, they usually do not appear until adolescence or early adulthood, but can occasionally be seen in young children. The majority of patients complain of severe head and neck pain. Headaches are often accentuated by coughing, sneezing or straining. Patients may complain of dizziness, vertigo, disequilibrium, muscle weakness or balance problems. Often fine motor skills and hand coordination will be affected.
Vision problems can also occur. Some patients experience blurred or double vision, difficulty in tracking objects or a hypersensitivity to bright lights. Other symptoms include tinnitus (buzzing or ringing in the ear), hearing loss or vocal cord paralysis. Patients may have difficulty swallowing, frequent gagging and choking and, in some cases, sleep apnea may be present.
Ehlers Danlos Syndrome Individuals with EDS have a defect in their connective tissue, the tissue that provides support to many body parts such as the skin, muscles and ligaments. The fragile skin and unstable joints found in EDS are the result of faulty collagen. Collagen is a protein, which acts as a "glue" in the body, adding strength and elasticity to connective tissue.
http://www.ednf.org/index.php?option=com_deeppockets&task=catShow&id=2&Itemid=88 EDS is commonly seen in people with Chiari Malformation. Researchers are very close to identifying the gene responsible and it appears that the same gene may be responsible for both problems. I recently saw a geneticist and I don't meet the criteria for either of the most common forms of EDS but I have too many characteristics not to have it either. The geneticist feels that I have a more rare type of EDS and that eventually the research will catch up and I will be able to be diagnosed properly.
The symptoms I have of EDS are I can partially dislocate my hip. I can over extend many joints, I bruise easily, I am missing teeth, I have heart arrhytmias and I have cranial settling. Cranial settling means that the ligaments that are responsible for holding my head stable onto my neck are too loose and allow my head to slump down when I am upright. When the docs at The Chiari Institute pushed down on my head I experienced intense pain, visual changes and was unable to swallow. When my head was pulled up my vision cleared, I could swallow again and the pain abated. The cranial settling causes me to have a lot of difficulty in standing and being up for long periods. I need to take frequent rests during the day were I can lay down and take the pressure of my head off of all my cranial nerves and brain stem.
Cranial settling tends to worsen over time and eventually I will need a surgery called a cranio cervical fusion done where rods will be put in to fix my skull in the right position and up off of my brain stem and cranial nerves.
Occult Tethered Cord The final issue I am dealing with is occult tethered cord. The occult part means hidden and that the tether cannot be seen on MRI. This is the part that makes in contraversial. It cannot be objectively diagnosed so it must be only diagnosed based on symptoms. Currently there are no Canadian neurosurgeons that believe on in OTC in adults or will do the surgery.
http://www.ninds.nih.gov/disorders/tethered_cord/tethered_cord.htm Tethered cord means that I have a tether at the bottom of my spinal cord which is pulling tightly on my spinal cord. This is thought to be the cause of my syrinx. The constant traction has caused the cyst to form and is behind all the symptoms I am having in my legs and bladder. This tether can be surgically cut and symptoms will usually dramatically improve following the surgery. This is the first surgery that I need to have. The Chiari Institute in NY does a lot of these surgeries and sees amazing results. I am hoping that they will soon be releasing research data on there findings so that I will be able to convince my Canadian NS that this surgery will benefit me. Either that or convince the prov. gov't to fund me to go to The Chiari Institute in NY to have the surgery done there.
I hope this helps explain a little bit what all my issues mean. It is overwhelming and I have a hard time myself believing all the complex medical issues I have going on. The positive part of all this is that these issues tend to progress very slowly. This will give me time to work on getting my surgery done in Canada or getting funded to go to the states. We are just not in a position to pay hundreds of thousands of dollars out of our own pocket to have it done in the US nor do I think we should have to. If Canada can't provide treatment they are supposed to pay for you to have it done elsewhere. Luckily I am incredibly stubborn and I am not giving up until they see it my way.
Syringomelia
I was first diagnosed with a syrinx which is a fluid filled cyst that forms in the center of the spinal cord. If you have a syrinx then you have syringomyelia. Syringomyelia is defined as a serious neurologic disorder where a sryinx develops inside the spinal cord stretching the cord and damaging nerve tissue. Basically if the cause is not dealt with the syrinx continues to expand and destroy the spinal cord from the inside out. My syrinx runs from C3 to T9. Common symptoms of syringomyelia is pain in the neck, shoulders and back, numbness and weakness in the arms and legs, and inability to feel hot and cold. http://www.asap.org/syringomyelia.html
Chiari Malformation
Pronounced (Kee-AR-ee) The Chiari I Malformation is considered a congenital malformation(present from birth), although there have been some reported cases of an acquired form. It is characterized by a small or misshapen posterior fossa (the compartment in the back of the skull), a blockage in the free flow of the cerbrospinal fluid and a protrusion of a portion of the cerebellum (called the cerebellar tonsils) through the bottom of the skull (foramen magnum) into the spinal canal. The tonsils would normally be round but often become elongated as they protrude down the spinal canal. Diagnosis can be difficult because not all patients will have the classical sign of deeply herniated tonsils. http://www.asap.org/chiari-malformation.html
My tonsils are only slightly herniated but I have all of the most common symptoms. The problem in Canada is that slight hernations are not being recognized as a Chiari Malformation. All the new research points to the fact that it does not matter how herniated the tonsils are it is the amount that the CSF is blocked and the resultant symptoms.
When symptoms are present, they usually do not appear until adolescence or early adulthood, but can occasionally be seen in young children. The majority of patients complain of severe head and neck pain. Headaches are often accentuated by coughing, sneezing or straining. Patients may complain of dizziness, vertigo, disequilibrium, muscle weakness or balance problems. Often fine motor skills and hand coordination will be affected.
Vision problems can also occur. Some patients experience blurred or double vision, difficulty in tracking objects or a hypersensitivity to bright lights. Other symptoms include tinnitus (buzzing or ringing in the ear), hearing loss or vocal cord paralysis. Patients may have difficulty swallowing, frequent gagging and choking and, in some cases, sleep apnea may be present.
Ehlers Danlos Syndrome
Individuals with EDS have a defect in their connective tissue, the tissue that provides support to many body parts such as the skin, muscles and ligaments. The fragile skin and unstable joints found in EDS are the result of faulty collagen. Collagen is a protein, which acts as a "glue" in the body, adding strength and elasticity to connective tissue. http://www.ednf.org/index.php?option=com_deeppockets&task=catShow&id=2&Itemid=88
EDS is commonly seen in people with Chiari Malformation. Researchers are very close to identifying the gene responsible and it appears that the same gene may be responsible for both problems. I recently saw a geneticist and I don't meet the criteria for either of the most common forms of EDS but I have too many characteristics not to have it either. The geneticist feels that I have a more rare type of EDS and that eventually the research will catch up and I will be able to be diagnosed properly.
The symptoms I have of EDS are I can partially dislocate my hip. I can over extend many joints, I bruise easily, I am missing teeth, I have heart arrhytmias and I have cranial settling. Cranial settling means that the ligaments that are responsible for holding my head stable onto my neck are too loose and allow my head to slump down when I am upright. When the docs at The Chiari Institute pushed down on my head I experienced intense pain, visual changes and was unable to swallow. When my head was pulled up my vision cleared, I could swallow again and the pain abated. The cranial settling causes me to have a lot of difficulty in standing and being up for long periods. I need to take frequent rests during the day were I can lay down and take the pressure of my head off of all my cranial nerves and brain stem.
Cranial settling tends to worsen over time and eventually I will need a surgery called a cranio cervical fusion done where rods will be put in to fix my skull in the right position and up off of my brain stem and cranial nerves.
Occult Tethered Cord
The final issue I am dealing with is occult tethered cord. The occult part means hidden and that the tether cannot be seen on MRI. This is the part that makes in contraversial. It cannot be objectively diagnosed so it must be only diagnosed based on symptoms. Currently there are no Canadian neurosurgeons that believe on in OTC in adults or will do the surgery. http://www.ninds.nih.gov/disorders/tethered_cord/tethered_cord.htm
Tethered cord means that I have a tether at the bottom of my spinal cord which is pulling tightly on my spinal cord. This is thought to be the cause of my syrinx. The constant traction has caused the cyst to form and is behind all the symptoms I am having in my legs and bladder. This tether can be surgically cut and symptoms will usually dramatically improve following the surgery. This is the first surgery that I need to have. The Chiari Institute in NY does a lot of these surgeries and sees amazing results. I am hoping that they will soon be releasing research data on there findings so that I will be able to convince my Canadian NS that this surgery will benefit me. Either that or convince the prov. gov't to fund me to go to The Chiari Institute in NY to have the surgery done there.
I hope this helps explain a little bit what all my issues mean. It is overwhelming and I have a hard time myself believing all the complex medical issues I have going on. The positive part of all this is that these issues tend to progress very slowly. This will give me time to work on getting my surgery done in Canada or getting funded to go to the states. We are just not in a position to pay hundreds of thousands of dollars out of our own pocket to have it done in the US nor do I think we should have to. If Canada can't provide treatment they are supposed to pay for you to have it done elsewhere. Luckily I am incredibly stubborn and I am not giving up until they see it my way.