- CASE FILE
I'm a medical provider w/ a 10 yr history of excercise intol & nonrestorative sleep,and a 1yr hx of escalating neuromuscular & cardiac sx.
ABOUT THIS CASE FILE
As a 33 year old medical provider, I cannot tell you the amount of frustration I feel being the "mystery case" for over 10 years.The strain on my marriage and ability to care for my kids (and my patients) has been monumental and indescribable. And the fury as a medical provider at being told that the stress of life is causing my symptoms, that this is all in my head, or this is simply a problem with my 'female hormones' is insulting. I previously had to self-diagnose my endometriosis and adenomyosis and push my regular gynecologist to investigate with surgery after 7 years of suffering and seeking second opinions; it later led to a world-renoun endo surgeon resecting stage 4 invasive lesions off my ureters, bladder, colon, posterior cul de sac and diaphragm, as well as an agreed upon hysterectomy, appendectomy, and removal of the left ovary in 2017. Pain thankfully improved drastically, but unfortunately the other symptoms listed below were not improved by the surgery. So. I'm now seeking help from the larger medical and non medical community as ER visits become my new normal.
10-11 years ago (2007-2008), while finishing my last year of Division 1 volleyball (at peak physical fitness), I started experiencing mild exercise intolerance and fatigue after activity. I also started feeling tired upon waking from sleep, no matter how many hours I got the night before. I stopped being able to wear lipstick due to severe lip dryness and recurrent cheilitis (ulcers in the corners of my mouth). I had previously only had EBV (mono) infection and bad menstrual periods in my health history. This fatigue progressed steadily over the next few years where I had to limit my activities or pay the price afterwards, and so I sought help at the health clinic well into my education at Physician Assistant/Medical school around 2010. Labs were normal other than an elevated serum iron and percent iron saturation; they normalized in 6 weeks upon repeating. Referral to neurology revealed a normal MRI brain with and without contrast, and a slightly abnormal sleep study to eval without a specific diagnosis as narcolepsy didn't really fit the picture. Adderall and antidepressant(s) were prescribed to attempt to combat the fatigue and help me get out of bed in the morning, which helped some, but new symptoms started, including low back pain which strangely would worsen at night.
I got married, graduated PA school, and moved in 2011. Xray of my back, taken because of dull pain and restless leg symptoms every night was read as grossly normal. More labs for fatigue and 'brain fog', including Lyme titre, celiac panel, thyroid labs, hgbA1C, inflammatory markers were negative. My first PCP sent me to Endocrine since many of my symptoms fit in with the picture of a thyroid problem, especially more poor ability to manage my body temperature. Their labs and exam were normal. I tried to continue staying active running, walking, hiking, but it was difficult and took willpower, because my stamina was poor, I didn't handle heat well, and I got short of breath easily. Due to the endometriosis, my husband and I had to decide in 2014 whether or not to have children through in vitro right then; this resulted in a beautiful twin pregnancy without complications, during which many of my symptoms actually improved! The only new weird thing was that, when I vomited from nausea, the effort of vomiting caused petichiae (red dot-hemorrhages) to form around my temples and eyes, in a mask like formation. (Fun fact: my 4 yr old daughter has the same thing happen when she coughs or vomits). I had post partum depression after delivery, was unable to breastfeed due to little to no milk production, and my symptoms returned with a vengence. Now included were patchy areas of numbness to my inner legs and prickling paresthesias to my lower legs and feet, and worsening brain fog and recall problems. Mucosal membranes in the mouth/lips and vagina were dry, but my eyes were spared. I got used to talking myself into getting out of bed in the morning, "you're lucky to be alive, and be able to walk, you can do this, you're living for more than yourself" and tried to eat well and continue exercising as able.
Last Aug 2018, 3 days after a mild viral URI sickness, I felt lightheaded at church, had some bilateral eye pain or strain with reading and had to sit down during service. Later that day, my right upper anterior thigh repetitively felt like the skin was crawling, and I could not finish a sentence or form a full thought in conversation, and experienced an abrupt onset of dull low back pain. I had trouble carrying my kids or lifting and keeping anything above my heads due to a burning weakness in my proximal arms. The next morning while getting ready for work, I could not hold my curling iron up due to the arm/shoulder weakness, and I dropped my coffee and keys multiple times. I tried to eat breakfast and found my jaws tiring easily from chewing. Sitting behind my desk, ready to start the day, I found I could not type- my dexterity on both hands was poor to nonexistent. I could hold a pen to write but not apply pressure with it, like my forearm muscles were too weak to squeeze, left side worse than the right. I couldn't text. I felt like I was coming down with a sickness, tired and foggy. We cancelled my patients, and I went straight to my PCP who recorded a BP of 138/100, found abnormal hyperactive reflexes to the lower extremities (it felt like a weird tightness in my legs even when reflexes were not elicited). I was still unable to think well, started slurring some of my words, and started with pain behind my eyes bilaterally, which shook a bit horizontally with any attempt to focus or read. One pupil was smaller than the other. My PCP called an ambulance for fear of stroke or transverse myelitis or similar.
The ER visit revealed...nothing. Labs normal, MRI brain and c spine relatively normal. Encephalitis was ruled out, as was multiple sclerosis. Many of my acute symptoms improved over the 5 hours it took to get a neurologist to see me, though the feeling of eye strain remained and I felt like I had run a 10K afterwards. My diagnosis was (of course!) panic attack, and I was told to follow up with neuro #2. The neurologist tested with EEG, normal and repeated the MRI brain which was normal and unchanged. I started with chills and a daily low grade fever ranging around 99.9 to 101 measured with the ear thermometer, but was often normal when cross tested at the same time in office with a forehead thermometer. I began to have deepening of my voice and hoarseness, along with L sided hearing loss, for which I was sent to ENT specialist with resulting ears that "look pretty normal" and vocal cords that "look pretty normal". He concluded that I was overly sensitive to changes in my life (like many females, apparently). My PCP found a transiently elevated serum estrogen level, which when immediately repeated, was normal.
My PCP recommended Rheumatology due to the continued low grade fevers in the afternoons and the coinciding new daily afternoon headaches in addition to the proximal muscle weakness and burning. I had never had headaches previously. Rheumatology found (+)Raynauds phenomenon, (+)decreased capillary loops to my fingernails upon manoscopy, a repeat negative ANA after my PCP had drawn a (+)1:80 ANA titre speckled (the first ever positive), and (+)Hypercomplementemia, but no suspicion of a diagnosis in his field. Since there was no joint pain and normal labs, Rheum sent me to Infectious Disease since the CT of the chest he had ordered showed an old calcified granuloma in the right upper lobe of the lung. Infectious Disease ruled out sarcoidosis, Tuberculosis, and several other infectious and parasitic conditions. They sent me back to PCP. Who was not concerned that I had lost taste to the middle part of my tongue, or that my appetite had completely changed to where I was avoiding meat, some vegetables and was overall not hungry, and was bloated to my lower abdomen. Because my progesterone serum level was less than 0.1 but had improved to 0.2 with progesterone tablets at night (normal is 10 or above), he concluded all of my symptoms were likely female hormone related.
ER visit #2 happened in February 2019 after a severe HA, malaise, and feeling of eye strain came on, again after a viral cold, along with increased pressure to the low back. Clear fluid came out of my nose like a faucet while trying to read bent over my book. My back pain and HA improved significantly after. The fluid occurred again a few hours later but was bloody and yellow, and had in-office a (+) 'tissue test' which I guess can indicate CSF leak. Consult with neuro recommended ER due to concerns about low lying meningitis in light of the daily low grade fevers and weird symptoms. CT of head and sinuses revealed no visible area of leak, and lumbar puncture revealed normal opening pressure, protein and sugar content (was not sent off for further analysis). I was sent home with the assurance that it was unlikely to be cerebral spinal fluid leak, and returned 2 days later to the same ER for a blood patch due to severe post LP headache, which was successful. I felt an idiot at this point.
ER visit #3 at Emory University Hospital occurred in March 2019 4 weeks after ER visit #2, due to experiencing sudden shortness of breath at night which woke me intermittently until morning. I had to prop up on pillows. The next day, symptoms recurred with an inability to talk without pauses to breathe while at work. Heart rate elevated to 140 rising to 160 with any walking around, without any precipitating factors other than another recent viral URI. I fell into a door frame out of dizziness, but completed my day's patient load because, lets face it, I didn't want to get fired and there is no back up provider for me in my location, plus I had been absent for doctor's visits. On the way there, I had to keep switching up my hands on the steering wheel because my forearms were tiring quickly, and my fingers were sticking closed with difficulty opening them after being on the wheel for a few minutes. The ER noted new parahilar lymph nodes, the same old granuloma, and a slightly abnormal EKG showing 'strain pattern' but nothing acute. Bicarb (HCO3) was increased but otherwise basic labs were normal; myasthenia labs were sent to mayo clinic and returned normal. A neuro resident noted mild blurring of the optic discs of my eyes, and a (+)babinsky upward going toes to the right side only. Percussion of my thenar eminances of hands showed a myotonic response. They referred and sent me home. My feeling of worsened weakness continued for another week before improving some.
Referral to Neuro #3 was set up. He was not impressed with my records and stated I looked pretty normal. He would run some basic tests anyway, just to confirm I was fine. EMG with repetitive nerve stimulation was normal. He was surprised to find Vitamin B 12 deficiency in the presence of a normal diet. I'm Vitamin D deficient as well and have been supplementing since 2012. He recommended IM B12 shots for 2 months to see if the neuropathies and paresthesias would improve. I asked why I would be deficient at my age, and he wasn't concerned, but referred me to a GI specialist to check for pernicious anemia and/or malabsorption. GI performed an endoscopy and colonoscopy revealing a small hiatal hernia and...nothing. Paresthesias did improve slightly after 2 months of injections, but did not disappear and no other symptoms improved. I noticed my biceps became larger and very defined (and overall musculature more defined and increased in size) without any exercising to the upper extrmeties. I thought it funny that I looked "so buff" to my friends but could barely hold up a picture frame long enough to nail it to the wall. I couldn't wash my car due to tiring of my arm muscles, which gave way to the feeling that my hips and low back were having to compensate for that weakness (started feeling strain there). Along with that, I started with new numbness and tingling of the bilateral 4th and fifth fingers and pain that traveled along the ulnar nerve proximally to the shoulder area on each side. My neurologist repeated that I needed to continue Vit B12 injections for 6 months before I would return to normal. He explained that a muscle biopsy and further testing was not indicated or necessary.
I also developed fluctuating lower abdominal bloating. My Gynecologist, who checked out the bloating, put me on birth control June (1 month ago) to suppress 3 ovarian cysts on my remaining R ovary found on U/S, since they rupture about once every 3 months. I wanted to tell her my sex drive was gone and my vagina was quite literally numb, but figured she had enough on her plate without my mystery problems.
ER Visit #4 occurred on day 1 of a medical conference on Hilton Head Island 2 weeks ago, the day after I arrived after driving for 6 hours. I started sweating that evening, and sweat all night long, changing clothes twice. I thought I was coming down with a viral infection or something, since I was still sweating the next morning as I got ready for the lectures. I felt "off" but ate breakfast, made it through the first lecture until I started with L sided chest squeezing feeling and some light-headedness. The squeezing radiated through to the back near the L scapula, along with L arm tingling and some shortness of breath. I was given aspirin and shipped to the local ER after the medical staff recorded elevated BP, HR and a 'thready pulse'. In the ER, the squeezing continued. I felt tired, and napped while labs were run. EKG returned showing normal sinus rhythm, (+)possible ventricular conduction delay, (+)ST depression and T wave inversion in leads III, V3, and aVF. Cardiac enzymes returned normal, as did the other labs. Echo showed trace mitral and trace tricuspid regurge and normal anatomy with normal pressures other than a mildly dilated IVC. Chest spiral CTA checking for pulmonary embolism showed (+)anterior juxtapleural blebs with adjacent minimal parynchymal subsegmental atelectasis/scarring, new, and (+)mild splenomegaly, new. D dimer was negative. The ER doc could not explain what was happening other than it looked like ischemia that was not causing damage, perhaps Prinzmetals angina. He recommended I follow up with Cardiology at home. I was able to finish out the conference, but the chest squeezing occurred intermittently during the week, not as severe as that first episode. I've had some decreased dexterity and clumsiness of fingers in typing and hand strength since then.
I attempted to exercise last night for the first time since the ER visit. I took aspirin after chest tightness started, with mild SOB and some lightheadedness similar to before. New was the feeling of hot/cold chills alongside profuse sweating with minimal effort. My friends noted pallor which improved after sitting. I'm having trouble typing today since my hands are freezing and won't work properly.
If you're still reading this far in, bless you for caring. It's a lot. This is a shot in the dark for someone who has put their family in the HOLE financially in a single year because of poor coverage and escalating symptoms. I'm getting on UnitedHealthcare as of Aug 1, and I will follow up with Cardiology the second week of August. My PCP (who I am no longer fond of) told me last week in passing that if there was something really sinister going on, I'd be dead by now, statistically, and that he really thought it all came down to hormones. He has asked me twice in the past month if I'm depressed and/or attention seeking with all of these ER visits, despite me trying to be one of the most positive, upbeat people around (in spite of everything). He also told me, statistically, that it's "not like you're having heart attacks" and 'its definitely not your heart' after looking at my recent abnormal EKG, despite a family history of early heart disease, arrhythmia, and complications. I'll be transferring my primary care elsewhere after my cardiology visit. From there, you tell me. Genetics? Mayo Clinic? Thanks for listening.