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

This Crazy Thing Called Life


* Photo from the last hike I took in September 2008, Prince William Forest.*

I had all sorts of plans for splendid entries on this journal (I still cringe at the word blog, I do not know why - maybe because it rhymes with "frog" and I have serious issues with amphibians?). Entries about the mixed emotions of sending off the blood work for the DNA testing for mitochondrial disease, entries about the amazing day that Mother's day turned out to be, entries about how when you are in a wheelchair you are all too often invisible both literally and figuratively and how this nearly turned me into a hood ornament for a Buick. But this crazy little thing called life kept stepping in and changing up my plans. So now I will be presenting My So Called Life, the abbreviated version.

* A week and a half ago I finally had the opportunity to access a hospital based laboratory to draw the single (Large!) tube of blood required to run the DNA testing for Mitochondrial Disease. The technician was very pleased with how "idiot proof" (her words) the self contained kit was, and I was pleased that I did not have to put that theory to the test at the scary, run by idiots local hospital. The downside of living in a very small town is that the medical care locally is sketchy at best - my primary doctor is a good 45 minute drive away, my specialists are about 90 minutes away. So now comes the waiting for results. I have mixed feelings as to what to pray for with the test results - the Dr is confident enough in his diagnosis that he has registered me to receive services through the MDA, and this diagnosis is the first thing that explains my entire medical history so a positive result would be a nice confirmation and would spare me the need to undergo a muscle biopsy. Given that I am on blood thinners, a muscle biopsy would be a bloddy mess and given that I have severe dysautonomia, a muscle biopsy which requires sedation would be a tightrope walk. Yet it just feels wrong to pray for test results to be positive for a disease that has no cure and no treatments. Not that any result is going to change what is going on inside of my body - either way there is a progressive disease process active and frequently making its presence known.

* On a much happier topic, Mother's Day was a day filled with priceless memories that I will treasure forever. My brother managed to orchestrate a series of surprises for just about everyone involved and had my two aunts come in to town to meet up with us for lunch. Neither my mom nor I knew anything - we thought we were going out to eat with my brother's family-, and my one aunt did not know the other was coming. I forgot to take my camera so I have no pictures but it was so much fun. Someone at the restaurant made the mistake of positioning the 9 of us front and center in the restaurant, obviously not comprehending the fact that any family gathering is a loud and rowdy affair. :) I spent half of the time at lunch at the "kiddie" end of the table with my nieces and nephew - well my nephew had his iPod in his one ear and was busy texting so the only time he spoke to me was to call me a tattle tale when I warned his mom that he has sabotaged her drink (I called him a teenager and he returned to sulking), and my older niece was constantly running from the table to check the score of the Tigers baseball game when she was not sulking because she stayed up too late the night before so really I visited with Little Bit. Little Bit is highly creative and can entertain herself for hours with just about any found object, so we were thrilled with crayons and a piece of paper but I did have some trouble following the ever changing rules of her games. Suspiciously, the rules changed every time she started to lose. :) I spent the other half of the time at lunch with the "Big People" at the adult end of the table where there was much laughter. After lunch, my one aunt came back to my mom's apartment to visit and we had a great time. I also had the honor of giving my mom a very special present that has a great deal of meaning to both of us.

* Being in a wheelchair is often like donning Harry Potter's Cloak of Invisibility. Suddenly people talk over your head, to the person with you, and about you but never to you. People will look everywhere but at you if you do talk to them, and they feel some bizarre compulsion to both shout and to revert to near baby talk. Because I obviously became hearing impaired and lost more than half my IQ points the minute I sat down in my wheelchair. What I failed to realize until the other day was that I am also literally invisible to many people. I was rolling in a parking lot at a large superstore, when all of a sudden a large vehicle whips out of a parking spot directly at me at about 30 mph. I used my emergency brakes (my hands) and my horn (screaming) to alert the driver and by the time we both came to a stop there was no more than an inch between my knees and her vehicle. I must admit that with enough adrenaline pumping through my body to pick up and toss her vehicle, I used a few words that I would not normally use in public and asked her whether or not she had seen me. She protested that I was in her blind spot, to which I answered that this is the reason as a driver you check your blind spot before whipping out of a parking spot and I questioned whether she should still be allowed to drive. I am now skitterish to even venture into parking lots and Lord help me crossing streets!!

* This week I got up, bathed, dressed, and out of the house four days in a row - Sunday for mother's day, Monday to pick up a prescription, Tuesday to go shopping for warmer weather clothes (last spring/summer I was still skinny from the dysphagia, this year definitely not so much), Wednesday to pick up the remainder of the prescription that they had not bothered to order in time for Monday and to return to my apartment (I had been staying with my mother for about 2 weeks). None of those days except Sunday and Wednesday involved getting up before noon, and those days I got up at about 10:00am. I was back home by 4:00pm every day. Yet my body is making me pay for so much activity. The dysautonomia is having a temper tantrum - I can not maintain my body temperature anywhere near normal, my blood pressure is running lower than my new normal, my GI motility is all messed up. The neurological disease is collecting its toll with headaches, severe muscle pain, and an increase in the dystonia and poor muscle control and balance. We are working out the terms of a peace treaty now, and I am hoping that by next week all will be forgiven especially since Monday I have a Dr appointment to evaluate my legs for Botox treatment as well as an EEG. I highly doubt the EEG will show anything because even if I were to have seizures I am on enough antiseizure medications that it should stop anything fast.

* I realize this post has been neither stunning nor brilliant, nor particularly entertaining. It has been long, if that counts for anything :) I shall work on the next entry and try to achieve brilliance, creativity, stunning humor, and perfect length. Hey, it is good to have goals :) Bonus points to you for making it to the end of this!!!
4 comments:

I don't care that you are long winded in your posts... it's your blog and I expect you to do what you want! :) I like reading updates...


I'll gladly accept those bonus points! Can I please apply them to a thin flagpole to your wc for when you are out and about? That close call gets me everytime I read about it.

Love reading about your Mother's Day. Thanks. Your teen relatives are sooo typical. They do mature eventually. I enjoyed being CollegeSon on the west coast on Mother's Day.

Are there any innovative treatments once you receive confirmation of your diagnosis?

I will quit apologizing for long comments if you quit apologizing for long posts. Deal?

Barbara


I am not sure if a flag would have helped the clueless driver or just given her a target :) I am much more aware of my surroundings now and I know the horn works ! Deal on the apologies, especially since I leave you long comments all the time.
Even with a confirmed diagnosis there is no cure or treatment for Mito, it is symptom management. There are groups seeking treatments and a cure. But it would finally be an answer and an explanation.


Here's improved symptom management with the funding support of the MDA.

I have bookmarked a few web journals of parents of children with mitochondrial disorders. Do you want them? Could send them by email. Barbara


Job 8:21

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



Blog Info

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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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