Starrla

By Starrla, United States, January 21, 2014

Hello my name Is Starrla, what I will do for rare disease day is advocate for people affected by a rare disease. I hope that we can get better care for all whom struggle with a rare disease. In 2011 I had two MRI one of the brain and one of my lower back the head MRI showed white matter disease and reference some think with my certiorari of 2,3,4. And the lower back referenced a tethered spinal cord. My neurologist at the time said the white matter disease is from old age I was 40 years old... ? My tethered cord she said that is why I have neuropathy did not say it was surgical. In the winter of 2012 my head and neck hurt really bad finally got an MRI of neck. I was diagnosed with Klippel Feil syndrome. I was fused from levels c2-c5 @c7-t1 congenitally. Neurosurgeon in May 2013 fused c5-c6 because they were wore out and flattening my spinal cord. I am now having surgery on December 6 th to untether my spinal cord. I am hoping the manage is not permanent. My pain is extremely painful as I wake up every night in pain, I can not walk for very long with out having throbbing pain. In researching my health issues I came a crossed a second rare syndrome I am in the process of getting my diagnoses, I will know in about a month if I have a rare form of Ehlers Danlos syndrome. 1 in 250,000 have this rare vascular Ehlers Danlos syndrome. I hope to find out by the end of the year. In my current health condition and my experience with most doctors and my rare conditions I have realized just how much doctors do not diagnose in regards to rare diseases . In my case, just bending my fingers, seeing my translucent skin, my prolapsed uterus is also a tell tell sign. Why did I have to tell my doctor to send me to a geneticist because I have this possible rare disease. I am 43 someone should have known!!! I think if there were protocols to just look at ones joints to see if they are hyper mobile. Just check them when your reflexes are tested!

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