- CASE FILE
At age 22, 4 yrs of Constant inexplicable Pain, Muscle spasms, Dislocations and Fatigue have taken my freedom and left me without answers.
ABOUT THIS CASE FILE
I am 22 years old and for the past 4 years I have been experiencing inexplicable pain every minute of every day. I've lost the ability to do everything I love and I want to experience life again.
At age 18 in 2015 I began to see a change in my energy levels. I was exhausted all the time and my back and joints hurt me immensely every day at work.
Over the course of the following year I first saw the following symptoms. With no change in eating habits, lifestyle or appetite I lost 20 pounds. I began experiencing painful muscle spasms all over my body that lasted hours and I have never been without them at any point in the day. Joint dislocations widespread, while atraumatic still leaving me with deep burning pain and of course, a very inconvenient joint out of place. By the year 2017 I was newly very happily married, settled in at a job I enjoyed and living in an apartment I loved. Although I was clearly sick I thought things could get better. I was seeing my primary care physician who was having me tested for a number of obvious neurological and immune diseases. I was given Cyclobenzaprine and told to take ibuprofen.
My body started to get very rigid and my gait was altered where when I walked I leaned to the side and needed the assistance of a cane.
In the spring of 2017 I was admitted to the hospital for 3 days following a virus they suspected to be EBV. Once released my condition took a turn for the worse. My legs shook so badly when I walked I could hardly scale the stairs into my apartment let alone walk to my desk at work. I could barely even comb my hair without my arm tensing immediately or lift a pot as though I had little strength. Every day I was in so much pain I was in tears, my muscle felt hard as rocks constantly and my doctor had no answers for me. All my blood tests as well as a brain mri, had come back normal. I was sent to a neurologist in Orlando who preformed an EMG on my arms and legs. The test was negative for anything so he says "When I do this test if you have something wrong it lights up like a christmas tree, yours did not so I say there's nothing neurologically wrong with you".
In August 2017 my wife took me to the hospital when my heart was fluttering like mad. In triage the nurses noticed my wild walk and after hearing my story decided to admit me for testing. I had full MRIs of my brain and spinal cord that showed nothing. I had many blood tests preformed as well, that showed nothing. The neurologists could not find an explanation but that I clearly had some type of movement disorder. They also overlooked my joint dislocations as well assuming priority in the muscular problems. I left that stay with a referral to the University of South Florida's movement clinic for 6 months from then, a note that the doctor thought I had P.O.T.S for what I originally entered the hospital about (Postural Orthostatic Tachycardia Syndrome) and a referral to physical therapy.
The hospital gave me a walker which I used until the following saturday when I awoke to go to work. I attempted to stand several times to no avail. I called out of work and spent the entire day in tears. The neurologist saw us the following monday and told me that he had no clue why I could not walk but that if the hospital could not figure it out there was no way he could and he discharged me from his care. I saw my primary care physician who gave me my necessary referrals, tested the reflexes in my legs (or lack there of) and solemnly said she wished me the best of luck. It was after that I found out I lost my insurance and I would have to wait until the new year to see any more doctors. I spent 2 weeks crawling on my apartment floor when my wife was not home because all we had was a transfer chair bought for us by family and that did not even fit through the doors in our little home. A very selfless family friend donated money for me to buy a medical wheelchair and I did just that. My wife carried me down the stairs everyday for work and I crawled in and out of my car with the large wheelchair.
The following year I was able to see my doctors again, they gave me baclofen and tizanidine instead of cyclobenzaprine which I had only been able to take at night. The baclofen helped my muscle spasms and I was no longer in tears every day but most days. I was also given meloxicam for inflammation that helped take the edge off my joint pain. I did physically therapy and every day at home I worked hard to get back on my feet. After a year and tedious work I was finally able to walk again, but I will never have a day where I don't fear it will happen again. I can walk now, however it is very painful, exhausting and still my legs shake and I lean to the side. I spend most of my time in my now personal wheelchair but I ambulate using a walker whenever possible.
In 2018 I saw Doctor Zieswitchz(sp?) at USF in Tampa, FL. I have been tested for a wide variety of genetic disorders since then and every test has come up negative. Originally they thought I may have had Stiff persons syndrome but after negative testing she turned towards the idea of Dystonia and referred me to the University of Florida's Movement disorder center where I saw Doctor Barmore. He first suggested I may actually have stiff persons syndrome despite the first negative tests however in a phone call after the appointment he reflected on a conversation we had about my joint dislocations and how I suspect I have Ehlers Danlos Syndrome. He told me that he was unsure but that he actually believed my symptoms could all be explained by EDS. I then was referred to rheumatology at UF where I can an incomprehensibly poor experience where Doctor Viju Moses ignored everything I said about my symptoms, failed to provide me with EDS testing and wrote my symptoms off as fibromyalgia. I have received a new referral to Orthopedic surgery at the Mayo clinic in Jacksonville because my doctor was not sure who else to send me to for EDS testing. I am awaiting scheduling to call me so I can go on another wild goose chase.
Present day I am on Baclofen as well as Gabapentin and Carbidopa- Levodopa which seem to help control my tremors and they have dramatically reduced. My muscle spasms and pain have not subsided and my joint dislocations have only gotten worse. With them surfacing a skin fragility most inconvenient. I am only able to work part time now and I spend much of my time sleeping or in bed. I wake up nightly even with combined muscle relaxers because the pain is so severe. I dislocate my joints in my sleep and wake up swollen and bruised. I stretch every day and exercise but exercise also exacerbates my symptoms dramatically. Before becoming ill I was happily working 2 jobs, weight training, and very active. I love the hustle of working and i'm an overachiever. Now I am stuck in a body that cannot support that lifestyle. I love to create art, cook, and explore but those have all become a burden due to my physical limitations I have suffered great loss because of this illness and I grieve for my lost life. My future was bright but with no answers it has dimmed. I want to live life again and I'm losing my fight with each negative test result received. I desperately need help to find answers.
So to recap symptoms, I have -Severe chronic muscle spasms -Muscle pain -Muscle and joint rigidity - Tremors -Abnormal Gait -Joint dislocations -Skin fragility and elasticity - Joint hypermobility -Joint pain - Nerve pain following joint pain - Dizziness, Vertigo - Loss of coordination - Trouble swallowing - Headaches - Weakness -Chronic Fatigue - P.O.T.S
I have had EMG's (A standing one scheduled for September), EEG's, A Spinal tap, Multiple MRIs of brain and spine, Genetic testing for Stiff persons syndrome, Blood tests for the obvious of MS, Ataxia etc., and an Echocardiogram.
I have attached some poorly taken photos for some mobility reference.