20+ years trying to find a diagnosis

[SickANDexhausted]

I got sick with some sort of virus over 20 years ago (mono-like). Since then, I have never been the same. I had been doing a bit better (after being put on Prednisone 6-7 years ago), but just went through some incredible stressful stuff with my family, and the last few months I have been so much worse. I am just a wreck. Over the years, I have been to lots of different doctors, tests. Etc... With no diagnosis. I need to start again in trying to find a diagnosis and getting help, but I am so overwhelmed at the thought of trying to search out a doctor again.

I have had a ct scan about 8 or 9 years ago, and an MRI about 6 or 7 years ago. One was to check and see if there was a reason why why pupils will be different sizes sometimes, and the other was to check my pituitary as I have pituitary insufficiency (pituitary doesn't make enough ACTH telling my body to make cortisol). Both were fine, no abnormalities.

Before I started Prednisone, I used to have hip/joint pain so bad, that some days I could not walk. I would have to use those motorized buggies in the grocery store. I thought it was from a childhood injury, but when I went to an orthopedic doctor, they did an X-ray, and they couldn't even tell that it had ever been broken, so they said it must be bursitis. Plus the pain was both hips and I had only broken one leg. Going on Prednisone has helped a lot with that, so it doesn't happen as often. But it is getting worse again. Also,I have tendinitis in both elbows that comes and goes. I started a list of symptoms last night, it's not complete yet, but is probably most of them.

Eye twitching
Droopy eyelids when tired
Pupils different sizes randomly, off center in iris, sometimes one pupil will be oval shaped
Eyeballs / eye sockets often ache
Sensitivity to light
Difficulty seeing at night

Fingers numb (right hand, index and middle fingers from first knuckle joint to tip of fingers)
Random severe shooting pains in limbs
Random twitching in muscles (mostly legs - thighs)
Muscle weakness
Tremors in hands
Legs will shake uncontrollably with very minimal exertion

Terrible memory loss
Difficulty concentrating
Have to really strain to remember things or to concentrate or make decisions
Poor balance (I fall often, and am very clumsy)

Severe fatigue, never feel rested

Cannot tolerate heat

Dry skin
Large pores on face
Red rash on cheeks
Bruise easily
Dandruff, dry skin and sores on scalp
Thinning, dry hair

Nauseas often
Dizzy often

Can sometimes hear heart beating/pulse in ears

Sleep apnea
Night terrors

Bladder issues (leakage especially when I cough)

Migraines
Frequent sinus infections
Chronic sinus congestion

Choking (often choke on liquids).
Sometimes feel like I can't swallow my food

Anxiety, feel overwhelmed often
Emotions all over the map (cry over nothing).
Difficulty hearing when there is background noise (I feel like my ears are stopped up)
Shortness of breath from doing anything
Difficulty breathing, sometimes feel like something is pushing or squeezing my lungs and abdomen, or like I can't get enough air

I have been diagnosed with Hashimoto's thyroiditis and pituitary insufficiency, but there has to be something else going on.....

I fell a few nights ago, off of my front porch. Face forward and down. I had also fallen the day before, but I thought it was maybe my sandals. They were 1 inch wedge sandals, not high by any means. But, then falling two days in a row? didn't feel faint or dizzy or anything when I fell, I just fell for no reason.

I had an appointment with the ophthalmologist last week. He didn't see anything wrong with my eyes, but he did refer me to a neurologist. My apptmt is may 13th. And they will fill me in if they have a cancellation. At this point, I am about afraid to even walk.... :-(

I am just tired of trying to get a diagnosis, I have been struggling with this for over 20 years. I am so tired of going to a new doctor, thinking maybe they will help me, and they don't or maybe they figure out a small piece of the puzzle, but not the big picture.

I recently keep coming back to MS, when I research. Should, I mention my concern to the neurologist when I see him, and request specific tests (and what would those tests be?). Or should I just to in and tell him my symptoms and see what he comes up with?

[SA_Ken]

Sorry to hear of the difficulties that you are experiencing and cannot get answers. It's very frustrating to not get an answer to having so many medical issues. I felt like I had lost confidence in the medical community. I went through some similarities to your experience for 13 years before I finally received a diagnosis of MS. Don't give up on looking for answers. It may be best to ask for another MRI on this visit with the Neurologist and if the MRI is inconclusive then ask for a spinal tap. That is what it took for me to finally get the MS diagnosis. Another thing that I think helped is to finally see a Neurologist that specialized in MS. My previous Neurologists did not specialize in MS and I got no where with them.

[SickANDexhausted]

Thanks so much for your advice! I don't think he neurologist I am scheduled with is a MS specialist. But, I looked and there is one in a local town. It is so hard to know who would be better to go through, when I have no way of knowing if either doctor is a GOOD doctor. I think i will at least call the neurologist that specializes in. MS, and see how long it would take to get an appointment.

[SickANDexhausted]

I just called the office of the doctor that is listed as specializing in MS. His office requires a referral, and I asked how quickly I would be able to get an appointment, they said June. The ophthalmologist's office is already closed for the day, so I will try again tomorrow. I was thinking since I am having so much trouble with my balance lately, and falling , that I will keep the apptmt with the first neurologist and then if I don't like him, I will already have the apptmt with the other neuro already scheduled. Does anyone see a reason why that wouldn't work?
And the ophthalmologist gave me the referral saying pituitary insufficiency and falling. The neurologist said the first thing they are going to do at my apptmt is an EEG and carotid artery scan. Part of me wants to go in there and list my symptoms and see what he comes up with for a diagnosis, and another part of me wants to ask about MS, as I want to make sure that I am thoroughly screened for it. I keep doing internet research and I keep coming back to MS, and being the one thing that fits the most pieces of my puzzle...

[SA_Ken]

Keeping your appointment with the first Neuro makes sense to me. Maybe you will be able to get an MRI scheduled at the very least with that appointment. It may even require a spinal tap if the MRI is inconclusive.

Many of your symptoms do sound consistent with MS. But, there are other things that can mimic MS. Unfortunately that means the docs likely will need to exclude one possibility at a time. I know its very frustrating but it is the reality in dealing with the types of issues we face.

Wish I could give you a quick path to getting diagnosed, but it isn't always that easy. It took 13 years for my MS diagnosis. I do not think that it will take anywhere near that for you to get your diagnosis, just stay diligent with the doctors.

Best wishes,

Ken

[SickANDexhausted]

I had my neurologist appointment yesterday. I am very impressed with this doctor. He is very thorough. Here are some things that are listed on my online healthcare plan.

TCD / CDS - TODAY TO EXCLUDE VARIOUS VASCULOPATHIES / UNUSUAL VASCULAR CAUSES FOR SYMPTOMS ( INCLUDING CHRONIC DISSECTION, VASOSPASM OR VASCULAR INFLAMMATION) AS WELL AS COMMON CAUSES INCLUDING SIGNIFICANT ATHEROMATOUS DISEASE IN THE ANTERIOR AND POSTERIOR CIRCULATION.
CURRENT PROBLEM IS VAGUE AND NONSPECIFIC THEREFORE DIFFERENTIAL REMAINS LARGE. EXAMINATION IS NORMAL INCLUDING CRANIAL NERVE EXAM. DOES NOT FIT INTO ANY ONE PNS DISTRIBUTION (I.E. CRANIAL NERVE, MYOTONIC DISORDER, HEMIFACIAL SPASM, STIFFMAN, POLYNEUROPATHY), NO BRAINSTEM PATTERN (LACK OF BRAINSTEM SIGNS OR SYMPTOMS ON EXAM/HISTORY), NOR HEMISPHERIC CNS PATTERN (SEIZURES, ENCEPHALOPATHY OR STATIC FOCAL DEFICITS). THERE ARE MIXED PNS AND CNS SYMPTOMS AND YET I AM UABLE TO FIT HER MYRIAD OF MULTIPLE SYMPTOMS INTO ONE NEUROLOGIC DISEASE ENTITY. NEUROANATOMICALLY OR NEUROPATHOPHYSIOLOGICALLY. THEREFORE, WE NEED TO CONSIDER A WIDE RANGE OF DISEASES THAT CAN AFFECT VIRTUALLY EVERY ORGAN SYSTEM, SUBJECTIVELY OVERSHADOWING ANY OBJECTIVE FINDINGS.

CURRENT NEUROIMAGING SHOWS NO STRUCTURAL/NONSTRUCTURAL ABNORMALITIES BUT IS OUTDATED.

THEREFORE DIFFERENTIAL INCLUDES -
A. TIA (UNLIKELY GIVEN LACK OF FOCAL OR BRAIN STEM SYMPTOMS), THIS CAN BE FROM VARIOUS CAUSES (atheromatous disease, vasculitis, vasospasm, hypercoagulable state, dissection, etc),
B. COMPLICATED MIGRAINE (UNLIKELY GIVEN THE VARIABILITY BUT POSSIBLE GIVEN THE ASSOCIATED HEADACHE. IT IS DIFFICULT TO PUT HER SYMPTOMS INTO ANY ONE COMPLICATED MIGRAINE SYMPTOM),
D. STRESS/NONORGANIC RELATED EVENTS,
E. REACTIVE HYPOGLYCEMIA.
F. WE ALSO NEED TO CONSIDER NONSTRUCTURAL METABOLIC( I.E. VITAMIN DEFICIENCIES) /AUTOIMMUNE( I.E. CTD ) /GENETIC( II.E MTHFR) / HYPERCOAGULABLE ETIOLOGIES THAT CAN AFFECT MORE THAN ONE NERVE OR CNS DISTRIBUTION.
G. PNS DISEASE - POLYNEUROPATHY LARGE OR SMALL FIBER .MYOPATHY, NMJ DISEASE, STIFFMAN SYNDROME


EXAM NORMAL EXCEPT FOR MILD SIGNS OF SYMPTOM AMPLIFICATION AND MILD LOWER EXTREMITY HYPERREFLEXIA WITHOUT PATHOLOGIC REFLEXES. .

DISCUSSION
CURRENT PROBLEM IS VAGUE AND NONSPECIFIC THEREFORE DIFFERENTIAL REMAINS LARGE. EXAMINATION IS NORMAL INCLUDING CRANIAL NERVE EXAM. DOES NOT FIT INTO ANY ONE PNS DISTRIBUTION (I.E. CRANIAL NERVE, MYOTONIC DISORDER, HEMIFACIAL SPASM, STIFFMAN, POLYNEUROPATHY), NO BRAINSTEM PATTERN (LACK OF BRAINSTEM SIGNS OR SYMPTOMS ON EXAM/HISTORY), NOR HEMISPHERIC CNS PATTERN (SEIZURES, ENCEPHALOPATHY OR STATIC FOCAL DEFICITS). THERE ARE MIXED PNS AND CNS SYMPTOMS AND YET I AM UABLE TO FIT HER MYRIAD OF MULTIPLE SYMPTOMS INTO ONE NEUROLOGIC DISEASE ENTITY. NEUROANATOMICALLY OR NEUROPATHOPHYSIOLOGICALLY. THEREFORE, WE NEED TO CONSIDER A WIDE RANGE OF DISEASES THAT CAN AFFECT VIRTUALLY EVERY ORGAN SYSTEM, SUBJECTIVELY OVERSHADOWING ANY OBJECTIVE FINDINGS.

OUR MAIN GOAL WILL HAVE TO BE TO DECIDE WHETHER THIS IS TRULY A NEUROLOGIC DISORDER OR NOT.

CURRENT NEUROIMAGING SHOWS NO STRUCTURAL/NONSTRUCTURAL ABNORMALITIES BUT IS OUTDATED.

THEREFORE DIFFERENTIAL INCLUDES -
A. TIA (UNLIKELY GIVEN LACK OF FOCAL OR BRAIN STEM SYMPTOMS), THIS CAN BE FROM VARIOUS CAUSES (atheromatous disease, vasculitis, vasospasm, hypercoagulable state, dissection, etc),
B. COMPLICATED MIGRAINE (UNLIKELY GIVEN THE VARIABILITY BUT POSSIBLE GIVEN THE ASSOCIATED HEADACHE. IT IS DIFFICULT TO PUT HER SYMPTOMS INTO ANY ONE COMPLICATED MIGRAINE SYMPTOM),
D. STRESS/NONORGANIC RELATED EVENTS,
E. REACTIVE HYPOGLYCEMIA.
F. WE ALSO NEED TO CONSIDER NONSTRUCTURAL METABOLIC( I.E. VITAMIN DEFICIENCIES) /AUTOIMMUNE( I.E. CTD ) /GENETIC( II.E MTHFR) / HYPERCOAGULABLE ETIOLOGIES THAT CAN AFFECT MORE THAN ONE NERVE OR CNS DISTRIBUTION.
G. PNS DISEASE - POLYNEUROPATHY LARGE OR SMALL FIBER .MYOPATHY, NMJ DISEASE, STIFFMAN SYNDROME


PLAN:
1. LAB WORK - REASONS ABOVE

2. TCD / CDS - TODAY TO EXCLUDE VARIOUS VASCULOPATHIES / UNUSUAL VASCULAR CAUSES FOR SYMPTOMS ( INCLUDING CHRONIC DISSECTION, VASOSPASM OR VASCULAR INFLAMMATION) AS WELL AS COMMON CAUSES INCLUDING SIGNIFICANT ATHEROMATOUS DISEASE IN THE ANTERIOR AND POSTERIOR CIRCULATION.

3. NEUROIMAGING OF THE BRAIN TO EXCLUDE STRUCTURAL/NONSTRUCTURAL CAUSES FOR ABOVE
DIFFERENTIAL **SPECIFICALLY DEMYELINATING DISEASE GIVEN SHE HAS MILD HYPERREFLEXIA AND NONSPECIFIC SLOWING ON EEG

4. WILL CHECK FUNCTIONAL BRAIN STATUS WITH EEG TO EXCLUDE SOMATOSENSORY SEIZURE AS A CAUSE FOR TRANSIENT NEUROLOGICAL SYMPTOMS. EEG CAN ALSO BE USED TO LOOK FOR ANY FOCAL CEREBRAL DYSFUNCTION THAT MAY SUGGEST A STRUCTURAL LESION OR AREA OF CEREBRITIS.

5. MUSCLE ULTRASOUND NEXT VISIT

6. FIRST NEED IDENTIFY THE PRESENCE OR ABSENCE OF PNS DISEASE WITH NCS (check large fiber component) and ENBX (check for small fiber component). BIOPSY WILL SERVE NOT ONLY TO MORE DEFINITIVELY DIAGNOSE NEUROPATHY BUT IS THE ONLY WAY TO CHECK FOR SMALL FIBER NEUROPATHY ALSO CAN EXCLUDE CERTAIN CAUSES SUCH AS VASCULITIC AMYLOID NEUROPATHY.

[aspen]

SandE... It sounds like he is extremely thorough and I would be breathing a moderately sized sigh of relief. Not a huge one. Since I am in limbo, I get the unwillingness to feel to completely trust the process, and you have gone through this process much longer than I. Still, I've never seen a report so comprehensive, detailed and containing an obvious plan. Praying that step by step he is able to walk you through this compassionately and thoroughly!

[SickANDexhausted]

Aspen, Thanks! I agree that this Neurologist seems like a keeper! I was so apprehensive beforehand, and actually asked to be referred to a different neuro (one that specializes in MS), but now, I am glad that didn't work out.

I feel like that whenever this Neuro is done testing me, that I will either, have a diagnosis, OR, I will feel assured that there isn't anything neurological going on.

That being said. I typed the next info out this morning, after my MRI.....
So, I had my MRI this morning. It went well, I was nervous, but handled it fine. They did just the brain, with and without contrast. I had asked about the spine, and was told that due to insurance, that they would do the brain first, and if it doesn't show anything, then the spine would be ordered.

While I am waiting on results, of course, I have been going over things in my mind, and rereading the neuro's care summary. Things that are standing out in my mind are: .
"MILD LOWER EXTREMITY HYPERREFLEXIA WITHOUT PATHOLOGIC REFLEXES"
"**SPECIFICALLY DEMYELINATING DISEASE GIVEN SHE HAS MILD HYPERREFLEXIA AND NONSPECIFIC SLOWING ON EEG"
" EEG CAN ALSO BE USED TO LOOK FOR ANY FOCAL CEREBRAL DYSFUNCTION THAT MAY SUGGEST A STRUCTURAL LESION OR AREA OF CEREBRITIS."
"FIRST NEED IDENTIFY THE PRESENCE OR ABSENCE OF PNS DISEASE WITH NCS"

I keep seeing that "nonspecific slowing on EEG", and of course, it scares me. I know that I need to just be patient and not speculate, as it does me no good, but there HAS to be something causing that, right?
Also, my eyes are just getting worse. Every time I go outside, if even for just a few minutes, I get overheated, and I come back inside and my eyes are really wonky. One pupil will be way off center in my iris, and the other pupil is MUCH larger. It is really freaky looking. Weird that the opthamologist didn't find anything...
All of the blood work that the neuro ordered came back negative (Lyme Disease, ANA, etc...) except he said that I have a problem processing folic acid, so he called in a prescription for that. I don't think the actual MFTHR genetic test came back yet, though, just that my folic acid is high.

Anyway, I keep reading through the notes, and it does seem to me like the Neuro is leaning towards something like MS, no? Or, am I reading too much into this? It is just that I have dealt with these issues for sooooo long, I just want to know what is going on.

And, I was talking with a friend yesterday, and while a MS diagnosis terrifies me, at this point, I just want to KNOW! And, it's not like the diagnosis itself, is going to add or change my symptoms. I have already been dealing with the symptoms for years. But, at least knowing, would help me figure out what changes I could make in my lifestyle to help myself, plus there might be treatments that could help me.
And, Is there anyone else out there, who would like a diagnosis (whatever that might be) so they don't feel like a crazy person? To feel like your symptoms are real, and not something exaggerated. To be able say, I have "this", and possibly have people show some empathy, instead of just looking at you like you are lazy????

[22cyclist]

I don't think she is looking at MS. Slowing on EEG can mean tons of things, for that matter, demyelination can mean several things, but an MRI comes back that same day, so she should already have the results of that. If you haven't heard anything, you should feel good that you haven't.

I wish you the best, let us know how it goes.

Lisa

[SickANDexhausted]

Thanks, Lisa! It would be a relief to not have MS. But, that nagging fear is creeping back in, that I will go through all these tests, be out the money for all these tests, and still be in the same boat.... All of these symptoms with no diagnosis.
But, If the MRI results come back so fast, maybe I will hear something in the morning. I think the doctor reviews tests, labs, etc... early in the morning. And, his office seems to be very good about posting the results in their online portal very quickly. I should get a phone call and email when they have the results. I will post as soon as I know something.

[SickANDexhausted]

I haven't heard anything from my Neuro yet, but I just remembered that I have an online health account with the facility group that I had the MRI at. I went online and my results were posted. Everything was normal.

"TECHNIQUE: Multiplanar MR imaging of the brain was performed without and with gadolinium contrast.

FINDINGS: The brain parenchyma appears normal. There is no finding to suggest hemorrhage, mass, infarct or hydrocephalus. There is no abnormal parenchymal or leptomeningeal enhancement. Normal vascular flow voids are demonstrated. The pituitary gland is normal in size and signal intensity. The orbits, paranasal sinuses and mastoid air cells all appear normal."

[aspen]

Was the MRI done with ms protocol? What were the referring symptoms? What did radiologist say under impressions? Just curious , because there is no mention of lesions (presence or absence) in what you shared here. I would have thought given your history this would be mentioned somewhere. .

[SickANDexhausted]

Aspen, I was kind of wondering that myself, why there was no mention of lesions, or lack of (more specifically). The MRI tech did ask if I had been diagnosed with MS, and I told her that I thought the Neuro was screening me for MS. The only other info on the MRI report, is:

MRI BRAIN W & W/O CONTRAST

MRI BRAIN

CLINICAL INDICATION: GAIT ABNORMAL


COMPARISON: MRI of the brain dated January 9, 2007.


IMPRESSION: NORMAL STUDY.

Then the info at the bottom with the Radiologist's name and that he read it at D: 5/22/2014 14:00:38

[22cyclist]

Even if it was not done to MS protocol, lesions would show up in FLAIR. So its OK not to have all of those slices. A general MRI will do as it picks up all of your brain parenchyma, brain stem on both an axial and sagital plane. If lesions were there they would show up. I say this because mine was to rule out tumor and the lesions showed up. FLAIR is the best way to see them, and you don't even need contrast for that.

So, presently, you have no lesions. You may want to talk with a Rheumatologist about your symptoms and see what they think.

Good luck with your journey. Let us know what other specialists come up with . Glad you don't have MS!

Lisa

[SickANDexhausted]

I do have an appointment with a Rheumatologist next month. And, with a new Endocrinologist in July. Also, the Neurologist has me scheduled for several more tests (NCS/EMG)(Nerve Biopsy)(Leg U/S-due to weakness, hyperreflexia and falling), and he did mention that if the brain MRI is clear that he would order one of the spine. So, I don't know if MS is completely ruled out yet, but it is definitely looking more like I don't have it.