- CASE FILE
In crisis trying to get treatment for 2 rare, incurable diseases, Syringomyelia and Ehlers Danlos Syndrome. There is not a cure for either.
ABOUT THIS CASE FILE
At 29 I was diagnosed with 2 invisible illnesses and hernisted discs following a lifting accident. Now at 32 these diseases, Ehlers Danlos Syndrome(EDS) and Syringomyelia(SM), are stripping me of everything in life and leaving me to just exist.
EDS is genetic and affects the collagen production in my body, leaving me in daily and constant pain. I also experience frequent dislocations throughout my body which add into the already exisitng pain. The weak collagen makes it so that my body has to work overtime to, literally, hold itself together. Just existing hurts then when something slips out of place, like multiple joints throughout my body do daily, it is incapacitating. As collagen is in every part of our body I feel discomfort and pain everywhere except for my hair and nails. Skin, bones, muscles, joints, tendons, organs... all affected. Having EDS doesn't stop there, multiple systems of the body are affected. For instance on me, I also suffer from dysautonomia, POTS, cervical instability, TMJ, migraines, nausea, bilateral sciatica, herniated discs, tinnitus and costochondritis. Those are just some.
Syringomyelia(SM) is often seen in those with Ehlers Danlos Syndrome and in my case the neurosurgeon is not sure how mine appeared, labeling it idiopathic or unknown cause. SM is a fluid filled cavity on the inside of the spinal cord. The disease is progressive so the cavity will get bigger, more fluid will enter, and as a result destroys my nerve tissue that is in the way. Of course, proper activity between the brain and spine are essential for function and the nerves that run up and down our spine all have assigments through the body. As the nerve signals become interrupted it affects that nerve's assignment causing pain and either limited function or no function at all in the affected areas. Its scary! So far, I have experienced one instance where my left leg would not work or respond at all for about 4 or 5 hours and then it came back. Doctors just shrug. The symptoms I experience from SM are back pain(especially at site of cavity, feels like a knife is in my spine), muscle spasms, muscle ticks/jumps, spasticity in my limbs, weakness and pain in limbs, hands, and feet and is worse on left side, incontinence, facial numbness and swelling, scalp pain, tingles, brain fog....(I know I missed a few things but...the brain fog guys).
Unfortunately just like EDS, SM also has a very common sister disease called Chiari Malformation and it ranges in number from 0 to 4. To properly diagnose an EDS patient with Chiari an upright MRI is needed. Chiari is a condition in which the brain tissue hangs down and touches the brainstem which causes a whole host of problems. To properly diagnose an EDS patient with Chiari an upright MRI is needed because of our weak collagen... if the brain is made of collagen and the collagen is weak then standing during an MRI offers an accurate view of the brain tissue and where is sits during most of the day, because no one lays down all day(like you would in a standard MRI machine). Obviously this is a specialty type service that is not covered by my insurance as the only machine in my state is in a town a couple hours away. I have had a brain scan but it was lying flat, and even lying flat I was told by a neurologist that it looked suspicious for Chiari and we need a neurological radiologist to decipher, again, specialty out of my reach. I do have typical Chiari symptoms such as cape pain in the upper back, visual disturbances, dizziness, loss of feeling along certain parts of my body, left side. I have not officially been diagnosed but I need a pathway to find out either way.
As far as treatment for Chiari and SM, due to their rarity, I cannot find knowledgable doctors within my insurance network that can help. In another country there is an institute that has a surgery that seems to help those with SM but I have been quoted such a high amount it will be impossible for me. I found a place near my town, that has experience with both Chiari and SM. I need treatment for these diseases as soon as possible because as they get worse irreversible damage is being done to my body and I could even end up in a wheelchair or paralyzed as this progresses.
I have not been able to find a doctor under my insurance plan or in my town that is able to help me or is knowledgeable of Ehlers Danlos Syndrome. However, I have found a center, in a close by town, that specifically treats EDS and the sister syndromes(Dysautonomia, Allydonia, Costochondritis, etc.) that unfortunately come with it. Unfortunately, they are not covered under my insurance plan due to the specialty. Right now I feel like I just have my mind left. Being in a constant state of physical distress has affected me down to the most basic functions in life. I can only manage about 7 hours of work per week because doing any type of activity longer than a few minutes causes fatigue and severe pain. With rent and several other bills to pay I cannot pay extra for medical as I'm struggling to hold onto the little I have built up in my life.
On a normal day I literally only go to work and home. I physically can't do anything else. Then once home I am nursing my entire body through tears. On a bad day I can't even leave the house and I am bed bound. I no longer can eat normally and have lost an unhealthy 20 pounds. The lack of appetite, vomiting, and nausea are causing nutrient deficiency and adding to the total body weakness I already experience. I can no longer walk my dog, clean my home, keep hobbies, or even hold onto friendships due to the debilitating symptoms leaving me bedridden. Every basic human function is affected daily. Due to the fact these diseases are so rare, education and treatment in the medical world is limited. I am currently being treated by a top rated primary care physician local to me but even he does not know about my illnesses and does not know what to do with my many problems so I am asking for your help to get me to doctors that are capable of helping me!
Some information about me:
I'm 32 years old, a fitness instructor, family orieneted, and I used to love being out in nature and active! I want to go on walks again, camp and hike again, play with my dog, go to family functions, crochet and knit more... I want a healthy life again.