Today I heard words that I never expected to hear, words that I was too battle weary to hope for anymore. As I sat in my curtained off section of the physical therapy office converted for the day into the MDA clinic, I listened in a bewildered daze as the most amazing of doctors informed me that ALL of my symptoms make sense - that as he listened to me and reviewed my chart he immediately began to get an understanding of what he thinks is going on. After spending 28 years with an ever growing list of medical issues that no one could ever put together or explain, and after 18 months of extreme frustration in which I have watched my life change in ways I never imagine, he thinks he knows where we need to focus our attention in diagnosis. He gave the monster a name, and he is confident in pursuing this diagnosis. It was not the monster I was expecting to possibly hear called out, but I am so thankful to have a name for it, to have a direction, and to have new found supports. The monster is Mitochondrial Disease and the fight is on!
I qualify as a patient under the MDA clinics, and so will be continuing to see the neurologist and team of specialists there. We are also going to do genetic testing for the specific subtype of Mitochondrial Disease that the doctor is considering most likely. In the near future I will be having an occupational therapist evaluate me at home for safety, functionality, and to suggest any equipment or changes that could be of assistance. We are working to set up PT, OT, and SLT (speech language therapy) that will be covered by my insurance and that I can afford. I am also going to undergo testing to make sure that my oxygen levels maintain an acceptable level during the night. Finally, I was started on a low dose of Florinef (sp?) to attempt to coax my blood pressure into a more acceptable range as the neurologist feels that just the constant low blood pressure can cause severe headaches, fatigue, difficulty concentrating and with memory, dizziness, and shakiness which certainly is not helping the situation.
I physically am not any better than I was this morning; but by having a name for the monster I feel empowered. By having a name for the monster we can also have a general understanding of what is within the realm of expectations, and what can be done to fight back. By having a name for the monster I can educate myself, I can access "community", and I can see the monster for what it is, and for what it is not.
If this is a bit jumbled, I am very tired after a long day and I am still processing this information. I am thankful for the amazing neurologist and for the hope I received today, and for the MDA clinic that allowed me access to top specialists. I just need to get acquainted with this monster and then tuck it away in its place.

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?