Our medical mystery

[blondee1965]

My husband has been sick for over a year now..it started with swelling and weakness and has progressively gotten worse, he now suffers from occassional severe headaches,dizziness, constant tingling in hands,at times incontinent of bowel and bladder,difficulty grasping objects and keeping hold of them, clumsiness,blurred vision especially in the left eye, memory loss,irritablity, depression,blackouts,
  difficulty concentrating and complaints of alot of pain...his left side is mostly affected by this..at times his speech is slurred his face becomes extremely "droopy", he has difficulty breathing especially at night, periodically i have to shake him to get him to breathe again, at times he is very lethargic and disoriented.
He has been through a series of test including a ct, mri, emg,
sleep apnea test,eeg, ekg, stress test, urine test, blood test a colonoscopy because his stomach was becoming increasingly enlarged.
He has been told he has an ulcer, a stroke, neuropathy and complex migraines, high blood pressure, high cholesterol but the only diagnosis they have given him was complex migraines and of course the high blood pressure, high cholestrol.
He is now on 7 different types of medicine, been through 4 doctors, 3 neurologist and in the hospital several times with no prevail.
He has been unable to work since this all started, each time he would try to go back he would swell up considerably and they would have to send him home, also his complexion becomes discolored, at times he is very pale,gray, yellow, purple, or blue.
He has become a "medical mystery."

[CCF-Neuro-M.D.-SH]

First of all, keep in mind that I am unable to diagnose you because I am unable to examine you, this forum is for educational purposes.
   The symptoms and story you presented are complex and there is much information that I do not have.  The symptoms of swelling weakness and pale gray complexion could signify heart problems such as congestive heart failure.  the symptoms of left eyed blurred vision, 'droopy' face, clumsy hands dropping objects sounds like stroke symptoms.  The symptoms of irritability, blackouts, incontinence of bowel and bladder with memory loss suggest possible seizures.  I would suggest that you take your husband to a major academic neurology center so that he can be worked up.  He will require at least a MRI to evaluate for strokes, an EEG to evaluate for seizures, a sleep study, EMG and sutonomic studies, as well as a lumbar puncture.  You mentioned these tests, but not their specific results, but since he does not carry a diagnosis that can expalin all of his symptoms these test will likely need to be re-done in expert hands.  He will also need metabolic tests to evaluate for genetic diesease such as the mitochondrial cytopathies (such as MELAS, MERFF, etc.)
I hope this has been helpful.

[nerve damage]

I would suggest going to an endocronologist.  Some of these symptoms are similar to my father's situation a number of years ago when he had Cushing's.  Alot of the symptoms are not what he went thru.  Regardless, if it were me, I'd have a hormone work up done anyways.  Hormones out of wack can do odd things to your body.  Has he been tested for Lyme's disease?  The tests aren't real accurate unless they have improved in the last few years.

Good Luck,  I had a daughter who was a medical mystery and was incorrectly diagnosed with a brain tumor..thank God.  I have a root canal screw up and had to educate myself 'cause the dentists sure weren't going to tell me the truth.  

I know how frustrating it can be...but I'm a firm believer in that you are your own best advocate...

[JDHAWK]

I am sorry to read about your husband.  I have small fiber neuropathy with diabetes and struggled to get dx.  One of the illnesses they wanted to rule out with me was Amyloidosis.  I thought this illness should be ruled out when I read that your husband was experiencing swelling and high cholestrol.  The swelling may be happening because of kidney problems.  Amyloidosis is a very rare illness and maybe you should ask your neurologist about it.  I hope the doctors can dx your husband so he can receive the treatments he needs.

All my best,

Hawk1

[caregiver222]

You need to have a physician rule out a slow Lobar intracerebral bleed, often cause by a simple lack of vitamin k in the diet.It is impossible to make a diagnosis from apost, however the slow progression and symptoms are a big yellow flag.

[mineandours]

Check out neurological Lyme disease. It creates many "Medical Mysteries", also.  Here's a symptoms list for you. Good luck and I hope you get some answers soon. Carol

Musculoskeletal System
Joint pain or swelling or tenderness
Stiffness of joints, back, neck
Muscle pain or cramps
Bone pain

Neurological System
Tremors or unexplained shaking (especially at night)
Burning or stabbing sensations in the body
Weakness or partial paralysis/stroke-like symptoms
Pressure in the head
Numbness in body, tingling, pinpricks
Poor balance, dizziness, difficulty walking
Increased motion sickness
Lightheadedness, wooziness
Sudden jerking of fingers or entire limbs
Pain in spinal column

General Well-being
Unexplained weight gain, loss
Extreme fatigue
Swollen glands
Unexplained fevers (high or low grade)
Continual infections (sinus, kidney, eye, etc.)
Symptoms seem to change, come and go
Pain migrates (moves) to different body parts
Early on, experienced a "flu-like" illness, after which you have not since felt well.  (If it was mild, you may not even recall this.)

Eyes/Vision
Double, blurry or dim vision
Increased floating spots
Pain in/behind eyes, or swelling around eyes
Over sensitivity to light
Flashing lights
Optic neuritis

Ears/Hearing
Decreased hearing in one or both ears
Buzzing or clicking noises in ears
Pain in ears or sound sensitivity
Ringing in one or both ears
Pressure or feeling of fullness in ears

Digestive and Excretory Systems
Diarrhea, irritable bowel
Constipation
Irritable bladder (trouble starting, stopping)
Frequent urination that is not normal
Upset stomach (nausea or pain)

Respiratory and Circulatory Systems
Shortness of breath, cough
Chest pain or rib soreness
Night sweats or unexplained chills
Heart palpitations or extra beats
Heart blockage

Psychological well-being
Mood swings, irritability, rage
Unusual depression
Disorientation (getting or feeling lost)
Feeling as if you are losing your mind
Overemotional reactions, crying easily
Too much sleep, or insomnia
Difficulty falling or staying asleep

Mental Capability
Memory loss (short or long term)
Confusion, difficulty in thinking, brain fog
Difficulty with concentration or reading
Going to the wrong place
Speech difficulty (slurred or slow)
Stammering speech
Forgetting how to perform simple tasks

Head, Face, Neck
Unexplained hair loss
Headaches, mild or severe
Twitching of facial or other muscles
Facial paralysis (Bell's Palsy)
Tingling of nose, cheek or face
Stiff or painful neck or creaking
Jaw pain or stiffness
TMJ – sudden onset, jaw spasms
Sore throat, hoarseness
Loss of sense of taste
Difficulty swallowing, throat spasms

Females only:
Unexplained menstrual pain, irregularity
Unexplained breast pain, discharge

Males only:
Testicular or pelvic pain

LYME FACTS
1. You do not have to recall a bite or have gotten the target rash to have Lyme disease. Less than 50% of people with Lyme do.
2. The tick that carries Lyme is as small as the period at the end of this sentence and their nymphs are nearly microscopic.  Ticks are on the move at 35ş and above. It’s a year-round problem.
3. You do not have to experience ALL of these symptoms to have Lyme disease.  It is also typical for many of these symptoms to come and go or occur once and never occur again.
4. It is possible to have Lyme disease and have a negative test result.  After Lyme bacteria enters your system, it tricks your immune system into no longer producing antibodies to fight it, hence, a negative test result. There are also other numerous factors that can affect the results.
5. Lyme bacteria hide in the spinal fluid, bone, tendons, muscle and nerve fibers and tissues and in many cases are not “floating” around in the bloodstream where they can be picked up on a test. It is a cousin to the syphilis bacteria and very difficult to eradicate.
6. It takes a LYME SPECIALIST to diagnose, test for and treat Lyme disease and any of its associated co-infections. To find one go to www.LymeNet.org.
or www.ilads.org.  Lyme specialists do not require a referral.  

NOTE: Everyone may have symptoms that appear on this list; however, it does not mean he/she has Lyme disease.  If one has numerous symptoms on this list and no other explanation for them, consider Lyme.

[puddy39]

I would have your neurologist ask that your husband's brain mri be checked for Chiari Malformation.  The symptoms sound alot like what I had for over 7 years before I was finally diagnosed.  It is a rare disease and I think many radioligist do not look for it.  In very simple terms, part of your cerebellum desends down into the area of your spinal cord and compresses the flow of spinal fluid into and out of your brain and presses on all kinds of nerves causing everything from headaches to numbness to falling, the list goes on and on.  I know I did not explain this real well but for more info go to the web site conquerchiari.com.  I had surgery a year ago, my headaches are better but I am still having some problems with damage that was done.  I hope you find the answers you are looking for, I know how difficult it is to go day to day feeling like that with no answers but do not give up and good luck.

[caregiver222]

Very good suggestions puddy39 and mineandours! The thing to remember is that you can have more than one "thing" going on. Cetainly, an infectious disease could be the problem, and lyme disease is potential candidate. One thing you should do is to get a release and obtain all the raw data from all the medical tests from the different physicians and put them in a folder, then arrange to pay for time of someone in the department of neurology from a good medical school to look through them for suggestions as to diagnosis and other tests they might consider. Mind, I said RAW DATA and a record of signs, symptoms and vitals over the past years. In addition to physician's interpretations.

[blondee1965]

Thank you all for your suggestions and comments, i will look into each and everyone of them.
The unfortunate thing is..when going back to the neurologist, she dx him with depression, and i asked her, well what is causing his feet to swell and his discoloration, her comment was, she dont know, that's not her expertise, and my thought was, well neither is diagnosing him with depression, so needless to say my husband not only was put on cymbalta, he is on ativan, and seroquel, so i am assuming they are saying he is depressed, anxious, and psychotic.. go figure.