- CASE FILE
I want my life back! Help me figure out what turned me from active runner, teacher and social butterfly to a life of pain and debilitation.
ABOUT THIS CASE FILE
I had been experiencing episodes of numbness and tingling in part of my body for several years. About 5 years ago, I started having night sweats. Despite this, I continued to lead a very active life. Sometime in 2016 I noticed that theRaynaud's-like symptoms, particularly in my feet had gotten so severe that even air conditioning lead to painful white and purple feet. I also started noticing that it was becoming increasingly difficult to raise my feet sufficiently while engaging in my favorite activity, running. It was also around this time that I developed what I thought wasRosacea.
In April of 2017 I was hospitalized with acute pancreatitis. For several months, the pain continued and my lipase levels fluctuated. Removal of my gallbladder helped somewhat but the abdominal pain took several months to fully resolve. It was this episode that triggered the severity of my currently debilitating symptoms. I immediately began to experience dizziness upon standing which later was diagnosed as orthostatic hypotension. My skin became so sensitive that even the feeling of air from a fan or the bed sheets were painful.
Once I felt I was recovered enough, I began running again, but the effort to lift my feet was markedly increased and the sensation of the clothing rubbing on my skin was unbearable. I found that even on the hottest and most humid day, I would feel cold. At one race, my legs became so numb that it felt like they were detached from my body.
I was found to have elevated methylmelonic acid, so began having B12 injections. It appeared that they were helping at first, but this proved to be a short-lived break that happens occasionally. I was also found to have low copper levels which I supplemented orally. These were both believed to be a result of a previous gastric bypass, but the copper levels did not get better with supplementation. I am currently getting intravenous copper weekly, but even this has proven inadequate showing that this is not likely bypass related. Further bloodwork shows signs of general inflammation, slightly elevated IgM and occasional elevation in platelets, I have elevated PTH which was also considered to be a result of bypass and was addressed with increased calcium and D supplementation. It seemed to work initially, but my PTH is elevated again despite normal D and calcium levels.
A skin punch biopsy showed axonal swelling and low normal small fiber nerves (which is considered low for someone my age. My lower legs have become so numb that I don't feel a pin prick, hair has stopped growing and I struggle with procioception of my toes (I can't tell where they are in space) and drag my feet when walking. My balance has gotten increasingly worse and loss of balance happens quite suddenly, especially when I stop walking or turn my head. Because of this, I wear leg braces to create more stimulation for my brain to figure out where my feet are and I use forearm crutches for balance and stability.
I have flare-ups of extreme all over body burning skin pain, feelings of electric shocks specifically across my chest, exhaustion, flu-like symptoms, blurred vision, rashes, mouth sores, difficulty starting a urine stream, blurred vision and more. During these episodes any exertion results in sweating and further exhaustion making it is difficult to do much more than get up to go to the bathroom. These can lastfrom three days to a week.
By January of 2018, I was no longer able to run, swim, hike, bicycle, do yoga or participate in anything beyond my job as a teacher which became increasingly difficult too. I pushed through until I could no longer and have not worked since.
I have been relentlessly pursuing a diagnosis in order to get my life back, but frustratingly, every time it seems like we are about to figure it out, the results become more confusing. I had negative blood work for Sjogren's disease, a positive Schirmer's for dry eyes and low salivary flow but a minor salivary gland biopsy came back as 'suggestive' of Sjogren's disease. I tested positive for a gene mutation seen in Behcet's disease, but a specialist in Behcet's said that it isn't Behcet's.
A few months ago, I had acute pancreatitis again. A few hours after being admitted to the hospital with elevated lipase, my liver function tests skyrocketed and many nutritional elements dropped. I spent a month going in and out of the hospital recovering from this and upon looking for a cause, they found that I also have a peptic ulcer which I am continuing to treat.
I see more doctors than I can count and have tried several treatments for pain relief and to address the issues. Unfortunately, I have many allergies that stand in the way. including steroids.
My complexion becomes pale and gray when not flushed, my vision has decreased significantly on the left eye in a short amount of time and I have hyperintensities on MRI around that optic nerve, I have burning pain on my tongue and mouth, my lower teeth move, I get random skin ulcerations and oral ulcers, my hands will become suddenly wrinkled and white, I can't perceive temperature well and can go from shivering to sweating in an instant and ringing in my ears.
There are so many obstacles and pieces to this puzzle, that I frankly am sure that I have left some out, but I am open to questions and supplying information in order to get to a better life.