- CASE FILE
SUMMARY
I have multi system diseases & symptoms since a child & can't find a US medical team to help find answers to my non-textbook medical issues
ABOUT THIS CASE FILE
I have had multiple system medical issues since childhood & always told everything was "normal and not to worry." I knew much of this was not really "normal" for most people but learned to call it "my normal" & find my own self help ways to identify possible triggers & how to manage these myself. About 3 years ago (age 61, after seeing many local specialists, having many severe allergic medication reactions, taking 26 meds a day & 9 PRN ones, having over 35 medical diagnosis & 2 full type written pages of family history with many similarities I started a new medical journey looking into mitochondrial dysfunction and possible other primary/ secondary causes for such multi-system possibly familiar diseases & symptoms. I have come a long way in 3 years with 13 exceptional out of state academic system specialty physicians & one mitochondrial/ metabolic team looking for multi system causes (6 hrs away). The system specialists have helped me to clarify, better treat, manage & prevent more serious issues for many of my individual diseases, but some are still worsening and still unable to find the primary &/or secondary cause(s) & relationships of all these issues. The mito/ metabolic team has recently discharged me as a patient due to the inability to put my symptoms & the abnormal pieces of my puzzle together & come up with a diagnosis that they feel matches my phenotype at this time . At present it is impossible for me to have a coordinated, multidisciplinary team to accurately develop, individualize & monitor a plan of care to maximize my health, improve my decreasing quality of life and pain, prevent further damage to all my systems, decrease medical related financial issues for me and my insurance company & more. I am unable to get the needed medical care locally and thus need to go out of state to specialists to assist me and my local medical team. Added to all that, I now am having difficulties finding knowledgeable, qualified and willing to help specialists anywhere in the US to help me with my growing neuro & muscular issues and to help identify any primary &/or secondary causes for the multisystem issues. I am a very positive person, but it is getting harder after getting continued setbacks. I am again starting to feel helpless (which is all so new to me!). Additional medical conditions include: cardiomyopathy, dysautonomia, achalasia, breathlessness, multi-system muscle tension disorders. GERD, vocal cord dysfunction, congenital left coronary anomaly with compression between two main arteries, possible mitochondrial dysfunction/ disease, possible fatty acid oxidative disorder(s), vitamin & mineral deficiencies, hypothyroidism & cortisol/ adrenal insufficiency. Additional symptoms include: acute stroke-like & multi-system episodes, exercise intolerance, multiple system cysts & lesions (some precancerous), frequent & atypical infections, hoarseness, episodic redness & skin lesions, easy bruising, frequent & atypical infections, generalized stiffness, severe heat intolerance, & dry eyes and mouth
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