mystery illness

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.

[meniere135]

Would you be open to trying a gluten free diet?  In addition to an Atkins type diet?  Maybe this will either greatly improve your symptoms or take an edge off.  If you have a gluten problem, you could be missing many vitamins due to malabsorption.  Look the diet up on the internet and give it a try.  Give it time if you decide to try it.  

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.

[meniere135]

Would you be open to trying a gluten free diet?  In addition to an Atkins type diet?  Maybe this will either greatly improve your symptoms or take an edge off.  If you have a gluten problem, you could be missing many vitamins due to malabsorption.  Look the diet up on the internet and give it a try.  Give it time if you decide to try it.  

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.

[shnelzbth]

That's kind of ironic because they just conducted a biopsy of my salivary gland to check for Sjogren's syndrome. When I was looking up that information, I came upon Celiac disease. I've asked my doctor to test for this disease and am waiting for his response. I have a history of unexplained weight loss and gain (10-15 lbs). They did an MRI of the brain. I'm going to see whether an X Ray of my neck can be completed to further rule out that. I have been taking several vitamins (B12, ALA with carnitine and acetylcholine, Magnesium, Calcium, Zinc, Ginko, Fish Oil, Co Q10, Biotin, Iron, Glucosamine, Lutein) since I got sick, because no doctors were treating anything. If I pick up complex B, will that cover the P5P? I have a history of hormonal imbalance, but not currently. Also have a history of high cortisol. Thyroid has always fallen within the normal range (TSH). I'm so frustrated because the doctors appear to have given up on me, but I'm too young for that!

[meniere135]

P5P must be bought separately.  I buy it at the Vitamin Shoppe - I live in the U.S.  It must be taken with the b-complex though, as they will work together.  Do not take with the zinc - it hinders absorption.  Whole Foods also carries P5P - you'll find it will the B vitamins.  

You have a history of hormone imbalance - what was the imbalance aside from cortisol?
If you still have a cortisol problem, you need to avoid sugar, refined flours, follow a low carb diet, don't overdo the protein, avoid caffeine and alcohol and probably milk products along with the gluten.  My daughter follows this kind of diet, but she continues to drink caffeine and too many sugar free beverages.  Walking is the best exercise for a high cortisol.  Heavier exercise is perceived as a stressful situation and more cortisol is secreted.  Now cortisol pulls off of progesterone - making levels lower.  Progesterone needs to be in balance with estrogen.  Nothing like hormone imbalance to make us feel like "crap!".  What was your TSH?  Apparently, ideally , it should be no higher than 2.5.  I know the limits are higher, but when a huge study was done on the population, the healthy people were no higher than 2.5.  And about those sugar free additives - get them out of your diet if you use them - many neurological symptoms associated with their use.  Give any changes you make several months.  The deeper in the hole your body is, the longer it takes to get out of the hole.  So don't assume that you will feel better immediately - maybe you will or you might not.  Hang in there.  I hope I can help you somewhat.  Keep in touch.  And even if you test negative for celiac - many people still heal up on the diet.

[meniere135]

And check into copper/zinc imbalance.  Too much copper can be stored in the body and wreak havoc.  Too much copper would be associated with a high estrogen (known as estrogen dominance).   Estrogen dominance would be associated with breast and ovarian cancer.  High copper would be associated with ADD, neurological problems, etc.  Research that one in depth.  Look up copper toxicity syndrome.  Do you have zinc spots on your nails - you might not be absorbing zinc.  Interesting stuff, heh?  I hope you figure this one out.