- CASE FILE
I have Upper Motor Neuron Dysfunction of unknown etiology. I also have Ehlers Danlos joint hypermobility and vision issues left eye
ABOUT THIS CASE FILE
I am 49 in July. For as long as I can remember and longer according to my mom I have been a medical anomaly. My primary care doctor did try to get me in the Undiagnosed Disease Network study, which at the time i did not qualify for, but they identified a speech issue.
My vision issues are now worse: eye tracking issue December of 2017 and 2 point change in vision in 6 months (this year). I have had an abnormal VEP over 15 years ago. My primary eye specialist is treating me as a Glaucoma Suspect (seeing for 10+ years). I have had one eye specialist nothing is wrong with my vision (saw once) and another tell me I have severe glaucoma in my left and moderate in my right (has seen me twice). Vision has fluxiated from 20/70 good days to 40/400 bad day. My base line is now roughly 40/100. I have pain and pressure behind my left eye. I am worried about loosing my vision.
As an infant I survived being electrocuted. As a young child I survived going through the windshield of a car and a few years later beginning hit by a car. At this time dental images were framed as i had a baby teeth + 2 adult sets growing downward and 1 growing up. As a young adult I had to have my wisdom teeth removed as the lower ones were growing sideways and the upper ones were growing upward toward the sinus cavity. In September I had to have a broken tooth extracted I was told it had 3 roots which was not normal for this tooth and I had bone abnormality so the grafting process had to be altered.
Growing up I was easily injured but it always took doctors awhile to identify the issue/injury. When I was 13 it took doctors over a year and multiple test, then orthopedic surgery to find and remove a tumor from my knee. This was the 1st of 6 surgeries to date that i have had on my left knee only. In 2019 in preparation for a 3 shot procedure an MRI was done, this is showing a benign tumor in the left knee (no one seems concerned) but this has not shown up before.
When I was around 41 I was diagnosed with Ehlers Danlos Hypermobility (answered why i got hurt easily). As of today I have had 14+ surgeries due to tumor, tendon and or cartilage issues because of injuries. I am in constant pain and had to medically retire last year. I keep a cane in my care and the walker at the house for quick usage.
But i suffer from tremors which are getting worse. It effects not just balance and writing but my speech too. In 2009 i was told i had upper Motor Neuron dysfunction of unknown etiology ( they don't know why). The issue cause problems with my vision too. ) About 5 years ago my primary care doctor tried to get me into the Undiagnosed Disease Network Study. They said I needed to have a speech abnormality evaluated and I could then be reconsidered for the study (@ Vanderbilt) It has to be genetic as my paternal aunt has the same neurological as me but she is much worse. Both parents and Essential tremors. These tremors are causing issues with the Ehlers Danlos, because of the tremors I fall easily. My aunt and my neurologist would like a specialized test but insurance won't cover it and it is thousands of dollars. I've seen over 20 doctors, not including the multiple orthopedic doctors.