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

Lab Rat

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I considered removing the post from a day or two ago, but the emotions in it are so very real and are just as much a part of what this journey entails as the laughter and joy. It may not be as pretty or enticing, but it is a side of dealing with this and the truth is that even though I am able to remain positive a lot of the time, I am only human. When I read back through this at a later date, I want to read back through and see an accurate representation of the journey - both the beauty and the shadows. I apologize if that makes anyone uncomfortable.
Moving onward, today I have a very important medical appointment with a top specialist at the University of Michigan. He is a neurogeneticist and also a specialist in progressive spastic paraparesis/paraplegia. My amazing neurologist referred me to him for a consult to see if he thinks this fits the pattern of the progressive spastic paraparesis (PSP) or if he has any other ideas regarding what this could be. All of my doctors seem to agree there is a genetic disorder at play here, because the statistical odds of so much "going wrong" in one person at such a young age at the same time without a genetic "umbrella cause" is astronomical. As one neurologist put it the odds are like being hit by a bus while being struck by lightning and winning the lottery without having bought a lotto ticket.
This will make for a long day. A long drive, most likely a long wait for the doctor (specialists never seem to run on time), a potentially long appointment (the paperwork said 1-3 hours! What takes 3 hours???), and then a long drive home. But if there is hope for answers, it is all worth it. I am nervous though. I am nervous that once again I will get my hopes up only to have them smashed. I am nervous that the doctor will not be receptive to listening to me and truly hearing me. I am nervous that once again I will be treated with disrespect and my concerns and knowledge devalued. I am nervous there may be no answers. I am giving these fears to God and praying that His will be done, and that I have an open heart to His will.
It is beyond cold here today (windchill is in the negative digits) so this could make for a fun doctor visit. Because of the dysautonomia I have to dress in layers in order to maintain body temperature. Layers include leggings, leg warmers, and multiple pairs of socks underneath my jeans, and two or more shirts layered beneath my jacket. In winter I always have to wear a hat to help keep warm (sometimes even in the house), and scarf and gloves. So I have a feeling I may end up having to change once I am at the doctor's office to remove a few layers. I am very much like the kid in A Christmas Story who can't put his arms down. But it is either that or my body temperature rapidly plummets. Considering I drop down around 97.4 inside the house without provocation, imagine what it would drop to outside in the cold!!!
I will update with any news from the doctor, any funny stories, or with a new journal entry soon. I have coffee to finish drinking and then I need to start to assemble the layers for the day. :)
Posted by Bethany at 8:55 AM
2 comments:
Anonymous
December 11, 2009 at 8:40 PM

Waiting not-so-patiently. Did you get the books I sent you?

Barbara


Bethany
December 11, 2009 at 10:06 PM

Oops, sorry!!!! I totally thought I had sent you an email but it must have slipped through the ever growing holes in the sieve of my mind!! I am so sorry!! Yes, the books arrived and I am enjoying both of them - I love learning and empowerment!!!


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Job 8:21

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



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Wild Olive

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Creative Victory

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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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