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

Another Medical Tuesday

Today I had a follow up appointment with my regular neurologist. She was thrilled and excited to hear that the specialists at the MDA clinic had been able to give me a working diagnosis that he is confident will be proven through subsequent testing. The focus today was the treatment of the symptoms rather than diagnosis. So we rearranged my medications that are used to treat the spasticity/dystonia in my legs to try to focus in on a combination that works. Really good news - the florinef seems to be working as my BP at the office today was 114/75!!!!! I NEVER see numbers that high!!! If we can get it a little higher and stable, then we may be able to try the Baclofen again - I got great results from the Baclofen but it caused a dangerous drop in blood pressure that led to a tour of the local emergency room when I hit numbers like 78/45 and was none to happy about it. The doctor noted that my endurance and strength have declined - for example I used to be able to stand with my braces or minor support (the counter) to complete a washing of dishes. Now after 2-3 minutes I have to sit back down in my wheelchair because otherwise my legs are going to go out from under me. I used to on a very good day be able to wheel about a mile, now I am lucky if I can wheel a block to the grocery store and library on a very good day. We are going to try to add in a low dose of an ADHD medication to treat the overwhelming fatigue because there are some days when even on a solid dose of narcolepsy medication I sleep until 3 or 4 in the afternoon and I am so exhausted that getting dressed is a massive victory. It is difficult to plan anything because I never know if it will be a day that I have energy or a day that I can barely get up out of bed to lay on the couch. Things that influence my energy include how I slept the night before, if I have any lingering or low level (let alone full out) infection, how the dysautonomia is behaving, and sometimes apparently the flight pattern of a butterfly in Brazil. :) I totally forgot to ask her what my PFT results were, but I am assuming if they were dangerously abnormal I would have been notified. I was also diagnosed as having myoclonus, and in a few weeks have to have an EEG done to make sure there are no signs of seizures and that it is originating in the muscles. On the same day I will be evaluated to determine if I would benefit from Botox injections in my legs, and then they will begin the process of convincing my insurance company that it is medically necessary - you know, that I am not treating wrinkles in my feet for cosmetic reasons. ;) The idea of being able to straighten my toes and get my foot flat again is an amazing concept that seems beyond belief.
Today started out far too early for my brain and body to keep up, but it was worth it because on the way to the appointment my father took me out to breakfast at a little hole-in-the-wall place that had awesome breakfast food. We shared one breakfast and I still could not finish my share!! Through all of this I have really been amazed and so appreciative of how my family has come together and been there for me. Never has my father or stepmother or brother complained about the appointments they have taken me to, about the waiting in waiting rooms, about the long drives (because the best neurologists are over an hour away), about the seemingly endless tests. My mother has been my emotional support, and she has never complained once when I woke her up in the middle of the night (nights are my toughest times) in tears of frustration or when I let it all out on her. Everyone has adapted to having to accommodate my wheelchair and my new limitations without making me feel like I am a burden or that I am making things more difficult for them. I am so blessed.
1 comments:

They are blessed to have you, too.

Easter blessings on you and your whole family, Bethany.

Happy to read progress on the medical front.

Barbara


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

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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