Symptoms for almost a decade with no diagnosis
 

I'm a 25 year old male, and I've had signs and symptoms for about ten years which seem to be consistent with relapsing-remitting MS, but have not been able to get a diagnosis or appropriate testing.

My first symptoms started around age 15. I developed muscle twitching, loss of balance/coordination, weakness, and fatigue and was referred to a neurologist by my PCP for a neurological work-up. THe neurologist ordered an EMG which came back negative. This cluster of symptoms would wax and wane over the course of months to this present day. At age 18 I experienced my first and only visual symptom. While doing homework in my dorm room at college I lost vision in my left eye and could only see a "kaleidoscope" pattern in the middle; the outer field of vision went completely black. I was taken to the ER and they did a CAT scan, which was negative. Doctor diagnosed me with a migraine and sent me home with no follow-up. Eventually my vision returned over the next couple of days. My next major episode was at age 24 last October, when I experienced a gradual onset of vertigo and loss of balance. It peaked over several days and got to the point that I couldn't focus on moving objects or hold myself steady. I went to the ER, and they ran a complete blood count and electrolyte panel. All tests came back normal, and doctor said it was probably stress and sent me on my way. Eventually the symptoms subsided after about two weeks. September of this year, I developed right sided weakness in my arm and leg. The leg weakness is not as pronounced other than feeling wobbly and slightly off while walking. The arm weakness is more obvious--I'm having a hard time opening jars, turning my car keys, buttoning my shirt, etc. This weakness/lack of coordination developed slowly over a course of weeks and hasn't subsided.

Throughout the past ten years that I've been having these strange symptoms, the two big things that led me to suspect MS was the visual disturbance/vision loss, which I understand is a major MS symptom, and the fact that these symptoms come and go in episodes that last for days to weeks. In between the major episodes I described above, I also have "good days" and "bad days" as far as fatigue/overall weakness; on my bad days I'll feel like I've just run a marathon and can barely scrape myself out of bed despite having gotten a good night's sleep. The fatigue episodes cycle more quickly than the major neurological ones.

I've spoken with my PCP about this at length, and she dismissed it as migraines/stress/anxiety and wouldn't refer me to a neurologist. Unfortunately my insurance plan requires referrals to specialists or they will not cover. At this point I'm willing to pay out of pocket just to see a neurologist and get tested. To make things more complicated, I have a suspicion that these symptoms might also be the result of long-term Lyme Disease. I grew up in a rural/wooded area in Connecticut where LD was widespread. As part of the work-up early on for these symptoms my PCP had me tested for LD; the ELISA came back positive but the Western Blot negative. I understand, however, that LD tests are notoriously inaccurate and that chronic LD can mimic MS.

For those who were diagnosed, what tests did you have done/requested? How long from symptom onset until you were finally diagnosed with MS? Just wanted to get some overall advice/support on how to handle this. Thank you.

I should also add that I get episodes of severe brain fog, sometimes accompanied by slurred speech, and inability to find words. These usually occur on the "bad days" with the fatigue and weakness.

I'm not diagnosed with MS but something is slowly damaging my nerves. The doc suspects MS and I have taken these tests so far to specifically determine if I have MS:
1. Brain MRI (3 of them, all positive with lesions)
2. EMG
3. Evoked Potentials (test nerve path from toes, up spine, to head (and hearing)
4. Cervical MRI (looking for lesions of the CNS)
5. Lumbar Puncture
6. Extensive blood tests


I'll have to request for a Western Blot. Glad I read your post. (I started a post called "are these ms symptoms".

You need an MRI. To diagnose MS, you need an MRI with lesions showing consistent with MS. (other things can cause lesions)

You need symptoms separated by time and space (you have had that)

You need tests to rule out other causes (B12 deficiency, Lyme's etc.)

Sometimes they will do a spinal tap to check for proteins in the spinal fluid.

Evoked potentials may be done also to see how you stack up.

I think its HORRIBLE that your doc did not let you see a Neuro. You may need another doc! MS needs immediate intervention and you are not getting any facts from your doc. Stress is not a diagnosis in a "healthy" young person.

Perhaps you do not have MS......but I read nothing in your post that proved that. They need to seriously look for MS and things that mimic MS. :hug:

g
 

Welcome VS, nice to meet you. I don't know why some Neuros take
soooo long in DXing or ruling out, MS and some do it more quickly?
It is true that in the early cases of MS, it doesn't show up on MRIs
and LPs, but eventually does.

Some Neuros/Docs also like to DX you with a case of anxiety/stress,
if they don't see anything on the tests. A nice way of saying, "it's
all in your head.:rolleyes::mad:... I'd love to tell that Doc, "It's obviously neuro
-logical, so of course it's all in my head and spine, you just haven't
found it yet".

Go to an MS specialist Doc/Clinic and Get a 2nd opinion!! Let us
know how it goes for you.:hug:

hello and welcome to NT,
as i've stated many times, one of my pet peeves is for a dr to tell a patient that their problem is due to stress and/or hormones. that's a cop out to me.
if your dr can't delineate the problem when your sx's are so ongoing and obviously not normal then she/he should step aside and at least let you see a specialist.

before telling you to get another dr i wonder what would happen if you insisted you wanted a referral. could you bring an advocate such as a friend or family member to the appt?

another thing i know is that an opthamologist can see eye changes indicative of MS and they have the authority to order mri's. the next time you have vision changes that might be an option. seeing an MS opthamologist may be more helpful.

when my sx's first appeared (gait problems) i had a neuro exam and brain with c-spine and t-spine mri's that showed lesions. it was done with and without contrast by a radiologist, and under floroscopy. i was dx'd based on that but later had a LP which showed O-bands which sealed the dx for my dr (an MS neurologist).

i know this is hard but don't give up. start to keep a sx (symptom) journal with dates and sx's. and, as you have tests get copies of the results. starting a medical file on yourself will be helpful for any other drs you see.

keep us posted.

I would tell your PCP (bring along a trusted advocate like family or dear friend) you expect a referral to neurologist.

Failing that solution, I would simply find a new primary care doc. Look for one highly recommended by people you trust - a doctor who listens, keeps an open mind and keeps current on the latest findings, and is not challenged by not being able to diagnose or "fix" your medical issues.

Good luck and I hope you find the answer and solution to what ails you - regardless of the diagnosis.

There is a new Lyme test, that is more accurate and has been
used only since 2012...

Here is information about it: by Advance Labs
http://neurotalk.psychcentral.com/post1018647-10.html

Thanks for the input everyone. I had an appointment with my PCP's office today and saw the Nurse Practitioner. She said she didn't notice any neurological deficits during the neuro exam, but ordered a metabolic panel, thyroid test, and a brain MRI without contrast. I'm scheduled to have the MRI later today. Keeping my fingers crossed.

NP just called me back with the test results. She said the blood work was normal, and the MRI was unremarkable, and to watch and wait to see if the symptoms disappear within the next couple of weeks before seeing a specialist. I had an MRI without contrast; if it's MS that's been causing my symptoms for all these years, would lesions show up in the scan?

Yes.

Contrast will show currently active (inflammation) lesions. If the MRI is normal it will be normal with contrast.

What a crazy situation! Mine was similar back in the day, in terms of specifically neuro symptoms, but my "back in the day" was when there was no MRI yet. The main difference between you and me was that I had other symptoms too, acute abdominal pain and "obstipation", plus tachycardia (intermittent). Could those additional symptoms have been MS too? Yes to "obstipation", maybe no to ab pain, probably no to tachycardia.

Later, much later (thirty years after this began in teen years) I was dx'd by MRI and other tests such as the Visual Evoked Response. I did have brain lesions.

However, even after that I was also dx'd with Porphyria. Now it does not sound like you have porphyria if you have no abdominal pain to speak of, which is the most characteristic sign of early untreated porphyria. But a certain small minority of porphyria patients have minimal ab pain. I myself have minimal ab pain at this time, maybe because I know how to avoid the "triggers" of porphyria. The neuro symptoms you have are often present in porphyria.



I am just inserting this atypical response here to indicate another far out possibility for you. I am not an evangelist for "porphyria," just sharing my own crazy dx history.

One thing about your history which is so like mine: I too went without symptoms periodically and I too had NO diagnosis, other than "stress"--not even a migraine dx, since my eyes were not badly affected when this first began at 16, 17 years of age. But I was in acute difficulty when an attack occurred, and even though I had been a top student and athlete, getting through college was an obstacle course and, what is worse, a
situation where my family began to look at me as a failed case. I really lost a lot of love being like that. And I feel for you if the same is true for you. Poor baby!

My advise on neurologists is mixed. Perhaps some here can direct you on this better than I. I have had, in my later years, good neurologists, but they were not easily accessible unless one lived in Southern California or Oregon or Phoenix. At this time I would recommend as a great place to go, but expensive and not in your neighborhood perhaps, the Mayo Clinic of Scottsdale Arizona. I don't have a neurologist's name there, as I saw one peripherally to a cancer workup (in my old age I also have Polycythemia Vera, unrelated to the other diagnoses, a form of non-malignant cancer which raises red cells and platelets). The neuro I saw there was the best. The other neuros I saw in S Cal and Oregon are long gone to the next world, but they were geniuses, and included Dr Roy Swank, the famous MS diet doctor.
On the East coast, I recommend, from experience, Johns Hopkins in Baltimore. My hematologist there, Dr. Jerry Spivak, is one of the best in the USA, and has some neurologic know-how. But best of all he could recommend a neurologist. Getting the right one for you is obviously paramount in your case. How to find this needle in the haystack? Only through blind luck or good referrals.

Does the absence of lesions on an MRI rule out MS? I just got another call from my PCP's office stating that my vitamin D levels were very low, and they suspect that that's what may be causing these neuro/muscular symptoms. She set me up with a prescription for a vitamin D supplement and wants to repeat the lab in ten weeks, and refer me to a neurologist if the symptoms are still occurring.

No.

It is possible to have MS without currently showing lesions on MRI, it can take time for MS to show on MRI.

The standard protocol IF MS is suspected is to re-do MRIs about every 6 months.

Usually, someone who has MS will not have a normal neuro exam.

It is possible, vs1988.

A vitamin D3 deficiency is being linked to many health issues. The only way to know if this is the case for you, is to get your D level up.

This is a link to a thread here on NeuroTalk which as a lot of very helpful information about D deficiency:
http://neurotalk.psychcentral.com/thread92116.html

hi all...is the McDonald Criteria still relevant now? i havn't heard it in awhile.

Yes.

The criteria for diagnosing MS is the McDonald Criteria.

I have symptoms that are clearly from brain lesions, but have ALWAYS had a normal brain MRI. In fact, my diagnosis was probably missed in 2004 because I only had a brain MRI. What finally got the ball rolling for my diagnosis was a neck MRI that showed lesions.

So I've had 4 "normal" brain MRIs now over a decade (last one just a few months ago), even though I'm confirmed MS with plenty of symptoms that come from brain lesions. So, no, a normal MRI does not mean you don't have MS.

I think if you don't fit their textbook definition that doctors are often confused. Sigh. :(

To say the least..:eek::rolleyes:

I will need to google the "McDonald" Criteria. I think I read it a long time ago but I completely forget what it was. what is "low EDDS"? thank you, anyone who knows.
I just looked at the McDonald criteria on Wikipedia, which I guess will be good enough for starters. What impressed me about this was the movement of the lesions around the brain during monthly MRI's, and the fact that not all the lesions were periventricular, as far as I can tell. I had not seen the McDonald criteria before.
I had more lesions than this when first diagnosed. They did not move as fast as this, but they did move entirely from one side to the other over the course of several years. Because they were mostly not periventricular (located around the ventricular chasm) some doctors were not sure I had MS. These doctors thought I had to have periventricular lesions, as well as the positive optic tests and the symptoms). By the criteria I see on the McDonald, I wouldn't have had any disagreements if my tests were done now (I guess. I don't claim to be an expert on reading MRI's although I had a lot of them). Dr. Swank also gave me a positive on his test of red cell mobility when challenged by oil under a microscope. My symptoms were pretty bad and had been bad for decades, but the eye symptom which registered on a test was the one which brought on the MRI. Remember that most of my experience was before MRI's came along, although I don't know when exactly they came along, certainly not in my first years of symptoms.
Does anyone have any further thoughts about the "periventricular" criteria? Thank you!

EDSS = Expanded Disability Status Scale

Here is the EDSS and what it means in terms of disability:
http://www.mstrust.org.uk/atoz/edss.jsp

The McDonald Criteria is the diagnostic criteria used in MS. When I was diagnosed in "85" the criteria was known as the Poser Criteria.

I was diagnosed with MS without MRI evidence. The diagnosis was based on neuro exam, A positive Lumbar Puncture and a severe exacerbation, every other test I had was negative. One year after diagnosis I met the criteria with my second severe exacerbation.

EDSS is the Expanded Disability Status Scale - a measure of disability in MS patients.

I guess I hit the McDonald criteria with 1 observable lesion, multiple documented attacks suggesting different lesion sites, and positive CSF.

Snoopy and Yeti, thanks for your replies. Anyone have a "periventricular" answer?

I read your posts and everything you said was described so well, it was as if you described my story. I'm sorry that you are going through this and doctors just don't seem interested in getting you the help you need.
The way you described your symptoms onset etc is the same as what has been going on with me too.
It is sad to hear that your doctor dismissed you and blamed it on " stress" .
Really? Why do so many of us get that as being our problem.
I am undiagnosed still and hanging in limbo land too. I am new to this board and have only posted on here once before. Reading these posts on here at least help me know that I am not alone in this journey.
I hope you find a doctor that will hear you and take you seriously. Good luck and keep us posted. :)

I agree with everything that Karilann said. It is shameful that they keep brushing off your symptoms. I hope that you will be able to see a neurologist soon.

I don't know if some insurances are rationing visits to specialists. It's a crying shame, if so. You need a neurologist or at least someone who can read MRI's. A few pcp's can do this. But not all.
I guess no one has an answer for my periventricular question. It seems anyone reading this has not been told lesions must be periventricular for diagnosis. That could just be a ludicrous myth which an early neurologist told me, early in my own dx. That's one problem you will face if you DO get a neurologist, that they have disagreements and they are not all equal in skill.