And God Laughs
I told God my plans and He laughed. So now I am living, laughing, and loving according to His Plans.

More Questions Than Answers

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?

Job 8:21

"He will fill your mouth with laughter and your lips with shouts of joy."

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Wild Olive

Wild Olive

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Creative Victory

This is Me

I am a thirty year old enigma who has defied every expectation ever placed upon me and refused every definition created for me. My greatest passion in life is to make a difference in the lives of children with special needs and their families. As a special education teacher I broke all of the unwritten rules to make sure that my kids received the services they needed and had a right to receive. I have never been so proud to be reprimanded before in my life. Now, due to unpredictable twists in life, I am learning first hand what life is like when you rely upon a wheelchair for mobility. I am a medical puzzle with the pieces slowly being identified and put together, and my medical bills alone could fund a small nation. It takes a village to keep me alive. :) However, I am not defined by the genetic misspellings. I am a teacher, a daughter, an aunt, a friend, a dreamer, a reader, an amateur photographer, a writer, an advocate, a star gazer, a world changer. I am stubborn, situationally shy, quick to use humor and wit to make others laugh or cope with a situation, sarcastic, fiercely independent, giving, compassionate (sometimes to a fault), protective of those I love, defiant of arbitrary boundaries, perfectionistic, self conscious, self assured (yes you can be both!), articulate and occasionally dramatic. And that is just what I could fit in two sentences! :)

Who's On First, What's On Second, I Don't Know! (Third Base!!)*

Simple Vocabulary Definitions for those who may not speak fluent medical :)

Undiagnosed Progressive Neurological Disorder- This is the diagnosis that is believed to make everything else fit together. It explains my frequent infections, my muscle weakness and dystonia, my dysautonomia, my cardiac issues, my inability to regulate blood pressure, my dysphagia, my ataxia, my severe fatigue, my extreme nausea, my gastrointestinal dysmotility and IBS like syndrome, my unbelievable migraines, my sensory changes in my arms and legs, my vision issues, my hearing loss (so much for blaming medication), and so much more. Going back to infancy and childhood, this would explain the severe apnea, the significantly delayed motor skills, the reason why I could never keep up with my peers in physical activities, the neurogenic bladder, the malfunctioning thyroid, and my frequent illnesses and vomiting. This is the diagnosis now being used since the DNA testing for Mitochondrial Disease came back odd and I can not afford the expenses of a workup at the Mayo Clinic. We are treating symptomatically.

Pan-Dysautonomia- "Pan" means that it impacts many different systems of my body, "dysautonomia" is a failure of my autonomic nervous system or the part of my brain that does all of the automatic things that do not require conscious thought like telling your heart to beat, regulating your blood pressure, adjusting your body temperature, maintaining balance in space, digesting food, hunger and thirst, etc. It is believed that I have had this from birth based upon my history of symptoms, including severe life threatening apnea as an infant, but the cause remains elusive at this time

Dystonia- abnormal muscle tone and spasticity, including painful spasms, that primarily impacts my feet and lower legs and is now starting to be a problem in my back

Ataxia- difficulty maintaining balance and coordinating/executing movements

Dysphagia- difficulty swallowing due to any number of causes including muscle weakness and poor muscle coordination

Adipsia- the absence of a sense of thirst

Other Medical Issues- Lupus Anticoagulant (autoimmune disease that causes me to tend to form blood clots and has already caused two deep vein blood clots and one mild stroke), Migraines, unknown connective tissue disorder, abnormal gastric motility, allergies, history of v-tach and severe sinus tachycardia, changes to my echocardiagram that include leaking valves and a new murmur, low blood pressure, ataxia, untreated PFO (small hole in my heart that increases the risk of stroke), chronic lymphadema in my left arm, Hashimoto's Thyroiditis, Narcolepsy/Idiopathic CNS Hypersomnolance (believed to be a result of the dysautonomia and my brain's inability to regulate the sleep/wake cycle), mild hearing loss, malformed optic nerves, polycystic ovarian syndrome, pernicious anemia, vitamin deficiencies

* Title comes from an old Abbot and Costello routine that I chose to memorize in 6th grade and absolutely love.

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