I have several more topics that I want to write about on here, but since I have been sans laptop or reliable internet for over three weeks I need to do a little catching up first. I made what entries I could using my cell phone, but that is limited especially since it is not a particularly fancy phone. When asked by my aunt if it was a smart phone, I replied "it is of about average intelligence".
Anyway, my team of three all star neurologists have finally achieved the holy grail. I have a medical diagnosis. Wait. We have a diagnosis but it is a diagnosis of symptoms and not cause. Drat it all, that is not the holy grail. That is a bronze medal perhaps. Well, anyway at least they have achieved something no one else has been able to achieve since I first started showing symptoms way back last September (they were very mild then, and then rapidly progressed). The official name given to this monster is Progressive Spastic Paraparesis/Paralysis. Actually, to get more official it would be Idiopathic Progressive Spastic Paraparesis/Paralysis. Idiopathic meaning cause unknown, although we are still methodically working on trying to find the cause. However, since I am missing half of my family's genetic and hereditary history we face a daunting task of trying to piece together genetic possibilities. On my father's side of the family the only information we have is about my father, his mother, and his half sister. Not a lot to go on there when working with mystery diseases. We are also looking to see if the issues that have been present since birth with my immune system are to blame. The diagnosis itself can be broken down further to make it easier to understand. Progressive: it began way back last September with my feet suddenly starting to rotate outward, as noted by the physical therapists I taught with, then progressed to include dysphagia from the dysautonomia, and major foot deformities, and sensory loss now up to my knees and oddly while I have my standard poorly developed fine motor skills the sensory loss is mirrored in my hands and arms, and I also now have sensory loss in banding along my back and trunk. Spastic: my muscles have too much tone in them, causing them to become tight and to contort into abnormal positions, leading to the deformities of my feet, the inappropriate rotations at my knees, and the inward rotation of my hips, also leading to painful spasms of the muscles. Paraparesis: weakness of the lower extremities, also is impacting my trunk muscles up to about rib level. Paralysis: loss of proper functional movement and sensation of my lower limbs. What we do know is that it is a spinal cord and nerve issue as the EMG demonstrated no deterioration or dying off of muscle cells but clearly demonstrated that my nerves could not properly conduct the signals to the muscles of my legs - instead of a steady smooth signal to move it came through in broken up little bursts. Now the questions remain - what caused this? How far exactly will a progressive disease progress? Should someone have caught this sooner and prevented the major deformities of my feet through bracing them? Does this connect to the dysautonomia I was born with, and if so how? If not, how was I so lucky as to end up with both of them? Can I hope for improvement or should I just hope now that things remain stable? How do you explain a rare disorder to someone when not much is known about it and the cause remains a mystery?