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

Naming the Monster

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.
2 comments:

I am thankful for you, too. I thought of you several times today, and was just starting my last round on the net when I saw your tweet. Thank you for staying up and posting - very coherent and encouraging to all who care about you. Sleep well. 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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