I hope someone is able to help me from this forum. The following info provides an explanation of my past & current medical conditions. I am a 30 yo female who was functioning at high levels prior to the onset of my illness.
My past medical hx is notable for jaundice (birth), asthma, ADHD, Neurocardiogenic Syncope, intolerance to extreme temperatures, fluctuations in weight (10-15 lbs), episodes of indigestion & vomiting, and hypersomnolence since childhood. I was 8 yo when I began entering puberty, starting menses at 9 yo. Since that time, I have had irregular menses & migraines. A tarsal coalition was performed on my R ankle. At age 22, I contracted mono, which subsequently recurred at 27 yo. I developed more severe episodes of indigestion & vomiting at 25 yo (neg results on a HIDA scan). Findings from a GTT (27 yo) resulted in the dx of reactive hypoglycemia (lowest sugar of 47 at 3 hrs). I was later dx with post-prandial hypoglycemia (29 yo). High cortisol & low ACTH levels led to a work up for Addison’s disease (neg). I was also dx with Narcolepsy (provisional) and sleep apnea, following the completion of a PSG & MSLT. Lab results revealed chronic leukopenia & anemia.
My family medical hx is notable for several d/o including, but not limited to, chiari malformation, cerebral hypoplasia, MS, breast & ovarian cancer, RA, lupus, epilepsy, diabetes/hypoglycemia, neuropathy, temperature intolerance, and sleep d/o on my maternal and paternal side.
In 9/09, I began experiencing episodes of dysarthria unrelated to sugar changes, SOB with minimal exercise, and pain & numbness in my toes. In 10/09, the onset of episodes of feeling as though I was “on an elevator going up,” blurred vision, diplopia, poor coordination & balance, and night sweats. I was referred to an optometrist, with results revealing a vague visual field deficit. I was then referred to a neurologist, who ordered an open MRI & MRA of the brain w/ and w/o contrast (neg). In 12/09, I developed chronic constipation, dysphagia, feelings of heaviness & weakness in my joints, ptosis in my right eye with fatigue, and episodes of excessive pupil constriction when coming in from outside.
In early January, I experienced ascending decreased sensation & motor control from my legs to arms while driving. I drove directly to the ED, where I was subsequently hospitalized for 4 days. During this hospitalization, I had daily migraines, nausea & syncope, persistent muscle weakness, and decreased sensation in my legs (L>R). Procedures during this hospitalization included a VEP and CT scan of the brain & chest (neg). Results from a muscular evoked potential study revealed axonal neuropathy of the L median nerve, and moderate reduction in compound motor action potential amplitudes L peroneal nerve. Findings from the VEP were unremarkable. Results from the lumbar puncture yielded neg results on the MS panel, Lyme disease, and neurosyphilis. Laboratory findings were positive for anemia, and a false-positive Lyme disease test. I was d/c from the hospital, without a dx or tx.
The neurologist from this hospitalization was able to follow up with me only after multiple calls to the office manager in late January. During the follow up appt with this neurologist, he stated that he was unable to identify the etiology of my illness and ordered another evoked potential study, EMG, and a MBS. The 2nd evoked potential showed only bilateral ulnar nerve neuropathies at the elbow (mild to moderate). The EMG was unremarkable, whereas the MBS revealed transient delay in passage of applesauce and pill consistencies within the mid esophagus. Follow up with this neurologist after testing, I was dx with ulnar neuropathy. Genetic testing revealed an MFN2 sequence variance of unknown significance. He did not see any purpose in pursuing the underlying etiology of my sx. As a result of his disinterest in continued investigation, I made an appt with my previous neurologist to further explore the etiology of my sx. This neurologist referred me to a Dysautonomia specialist. This neurologist indicated that he felt that the onset of my recent sx were not related to a primary autonomic d/o, & suspended autonomic testing. That physician subsequently referred me to neuro-opthamology, ID, endo, another MRI of the brain & spine using a stronger magnet, and GI.
Following this appt, ID denied my case stating “I did not have Lyme disease.” Endo ordered a gastric empty studying while waiting on an appt for GI, which revealed prolonged gastric emptying with a halftime of 99 min. GI completed an upper endoscopy, revealing a benign hiatal hernia, & an EMS (normal findings). GI subsequently concluded that my perceived dysphagia was associated with GERD, and did not see the purpose in determining the etiology of my chronic constipation or vomiting. During that time, I developed episodic problems with vomiting, numbness in the left calf, severe constipation, cognitive deficits, agitation, SOB at rest, and tremor in my hands and trunk. PT & ST began in 2/10 to address dysarthria, dysphagia, muscle weakness, and poor motor control. I was referred to Urology 2T urinary frequency, incontinence, & bladder spasms. Results from my urodynamics study were WNL, with the exception of an increased EMG.
When returning to my original neurologist, I was referred to a neuromuscular specialist & rheumatologist. The neuromuscular specialist conducted a 2nd VEP, 3rd EVP, & a 2nd EMG. Findings from the 2nd VEP revealed abnormal results, with a delay in visual conduction (L>R). In contrast, the EVP and EMG studies fell WNL. Results from a 24-hr urine sample were positive for only 1 elevated preforan, and the voltage gated calcium channel antibody and NMO antibody were neg. Findings from an MRI of my brain from a 3-T magnet were unremarkable. Hematology & Oncology conducted testing (neg), and encouraged me to continue to pursue a dx with rheumatology. During this work up process, I have developed edema in my hands and feet, with associated redness, hot to the touch, and a painful burning sensation. During these episodes, the affected area may include the combination of my hands & feet, or just a few fingers or toes. I also contracted Shingles during that time.
The results from the multitude of medical tests have revealed inconclusive findings. Rheumatology indicated that the etiology of my illness is more likely neurological given my variable ANA testing (2 pos, 2 neg), & neg Lupus panel. The neuromuscular specialist indicated that he was unclear of the etiology of my illness. He suggested that neurological testing be d/c for 2-3 mo. until my next follow-up appt to monitor my illness progression. I expressed my concern regarding this plan, feeling as though he had “given up” on my case.
I have been seen by multiple neurologists, as well as other medical disciplines (i.e., Neuro-opthamology, a Neuromuscular specialist, Cardiology, Oncology & Hematology, Rheumatology, Endo, Sleep Medicine, GI, Dysautonomia specialist, and Urology). All these specialists seem to think that my sx are caused by an underlying condition, but no one has been able to dx such condition. On the contrary, my doctors seem to keep referring me to one another with no answers. While understanding the complicated nature of my condition, particularly involving my variable presentation, ranging from debilitating sx to mildly symptomatic. These doctors have not been able to dx or tx my condition, & seem to be inclined to wait for the disease to progress before further pursuing any medical testing.
I am desperate for answers so that I may resume my life. Prior to the onset of this disease, I was a runner, dancer, & practicing in my first attending position. The onset of this disease has placed my life on hold indefinitely, to the point that I require someone to help care for myself & my dogs. I am open to anyone’s thoughts, suggestions, etc.
You mention chiari malformation. Did they check you for that? How about tethered cord syndrome? Is your big toe shorter or the same size as the toe next to it - you might not be able to convert regular b6 (pyridoxine hydrochloride) into P5P - a form that the body uses to perform many activities in the body. So you might need to take a P5P supplement. P5P works with b1 and b12. So many things for you to look into. Since you've been through so many tests, you might want to start looking things up on the internet. Check out hormonal imbalances, vitamin and mineral deficiencies. food intolerances, etc. Good luck! No one should have to suffer like this.