Help for Limbolanders
 

"Patients with symptoms that the medical profession has been unable to understand and treat have a new place at NIH where they can turn for help and hope in finding a diagnosis.

That’s because on May 19, the NIH Office of the Director, Office of Rare Diseases, the Clinical Center and the National Human Genome Research Institute launched the Undiagnosed Diseases Program. A trans-NIH initiative, it will focus on the most puzzling medical cases referred to the CC by physicians across the nation."

http://nihrecord.od.nih.gov/newslett...008/story4.htm

http://rarediseases.info.nih.gov/Res...aspx?PageID=31

Cherie

Thanks for this post Cherie - I am going to talk to my Neuro about this. I read the FAQ but I am wondering if I will fit the criteria or not - guess my doctor would make that determination in whether to submit my case.

I have been dx with Hashimotos (recently), Cervical Spinal Stenosis since 2000, Fibromyalgia, had a positive Lups test and just had more follow-up labs on that today AND... if all that isn't enough - just had a bunch of blood test looking for Sjogrens (sp) because my Endocrinologist also thinks I likely have that too. I think she called mine "crossover autoimmune syndrome".... at least that is what she is thinking is going on with me.

Also - I have been labeled "probable MS" (due to symptoms and lesions)for several years.

But I would be curious if a place like this could fit all the pieces of my health together... I would like to have the DNA testing to see if they could put the pieces of the puzzle together.

Yes, I will talk to my doctor about this - may start with my PCP since I am not due to see my Neuro until August.

As I said - I am not exactly undx, but kinda - since it is thought that I probably have MS - so I don't have that dx - but do have a bunch of others.
NOTE --- I HATE the Fibro dx - long story about that one...

Great info - THANK YOU !!!!

This is interesting:

Failure to develop multiple sclerosis in patients with neurologic symptoms without objective evidence
A Boster1, C Caon1, J Perumal1, S Hreha1, R Zabad2, I Zak3, A Tselis1, R Lisak1, and O Khan1
1 Multiple Sclerosis Clinical Research Center, Department of Neurology, Wayne State University School Medicine, Detroit, USA; The Detroit Medical Center, Detroit, USA
2 Multiple Sclerosis Clinical Research Center, Department of Neurology, Wayne State University School Medicine, Detroit, USA; Department of Clinical Neurosciences, Calgary, Canada
3 The Detroit Medical Center, Detroit, USA; Department of Radiology, Wayne State University School of Medicine, Detroit, USA


Background

Many patients referred to multiple sclerosis (MS) centers with symptoms suggestive of MS are found to have normal neurologic examinations, normal or non-specific brain magnetic resonance imaging (MRI) scan findings, and normal cerebrospinal fluid (CSF). Persistent symptoms often lead to multiple consultations and repeated diagnostic investigations. We performed a study to evaluate the diagnostic utility of repeated evaluations in patients with normal initial assessments and persistent neurologic symptoms.

Methods

143 patients were evaluated initially and 109 returned for a second evaluation after a mean interval of 4.4 years.

Results

All 143 patients had normal initial examinations, brain MRI scans, screening blood tests, and CSF studies. Spinal cord imaging was normal in all patients tested (cervical cord, n = 126; 88.1%; thoracic cord, n = 58; 40.6%). Evoked potential studies were abnormal in a small percentage of patients: visual evoked potentials, VEP (8.1%), somatosensory evoked potentials, SSEP (4.9%), and brainstem auditory evoked potentials, BAEP (2.8%).

All follow-up patients (n = 109) had normal examinations and MRI scans. Repeat CSF studies (n = 35; 32.1%) and spinal cord imaging (cervical cord n = 57; 52.3%; thoracic cord n = 32; 29.4%) were normal in all follow-up patients tested. No patients at initial presentation or at follow-up fulfilled diagnostic criteria for MS.

Conclusions

Patients and clinicians may be reassured that persistent neurologic symptoms in the absence of objective clinical evidence do not lead to the development of MS. Costly serial investigations should be carefully considered, particularly in the presence of normal neurologic examination at follow-up.

http://msj.sagepub.com/cgi/content/a...458507088156v1

Cherie

Well - that should cover more than a few of us in limbo. All the physicians involved in that study and no hint at what could be causing the problems that mimic MS?

I think what has kept me going is the reassurance from the staff at the MS clinic that they believe me. Yes my MRI is free of lesions, evoked potentials are normal. My neuro exam is clearly screwy.

Is there a subclinical form of neurological illness that hasn't been identified yet? Something that might be environmental (post WWII)? There are times when the RRMS patients on the forum have less symptoms and disability than some limbolanders. That's great for the RRMS patients, certainly we can be happy for them. (If we were not, then we shouldn't be here).

I guess what it boils down to is quality of life. For me that means symptomatic treatment and the once a year reassurance from the MS clinic that I am not crazy even though I do not meet the diagnostic requirements for MS. After 10 years I seriously doubt I ever will.

The NIH will be flooded with mystery patients. Maybe something good will come of it.

Great info Cheri - thanks.

Hi Cricket,

Well, only 109 of that original 143 were re-tested, and it was only 4 1/3 yrs down the track. ;) It was 12 yrs before they firmed up my dx.

Also, we don't know the basis on which those doctors originally referred someone for neurological testing. Some doctors just like to cover all their bases . . . which is one reason a person probably shouldn't be too concerned about it being MS just because they are being tested for it. Really, a lot of times a doctor is just crossing that option off the list . . .

Then, did they send those people back 4.4 yrs later because they were continuing to have neurological problems . . . or was it just to check how many still didn't have MS?

I agree, it would be interesting to know if they EVER got any kind of dx.

What would also be really interesting is following these people to autopsy. I wonder how many have MS then?

Too many unknowns to come to any conclusions, I reckon.

Cherie

It amazes me that people I know who've been dxd with MS have less sxs than me, and I suffer enough with them that I can't presently work, due mainly to gait and cognitive problems, yet my neuro's NP dxd me with depression/anxiety.
How does this mental disorder produce spots on my brain MRI? How does it make my foot drag? I know a woman whose only sx was numbness/ tingling on one side. Bam-MS dx.
It's so subjective...and so frustrating. I am not going back to the neuro...I will take his NP's dx and leave it at that, since I have had no other major sx pop up, other than new tingling in right arm. But can you tell I'm a bit frustrated? I also feel alone with it...poor me...:rolleyes:

That's what I think as well -- but they manage TO reach a conclusion! :mad: Sometimes these studies really irk me.

I know what you mean, but this is the reason I like to post this kind of study . . . for the discussion that comes out of it.

Like EVERY study/trial, things are presented in the light that they want it to be, at least as much as the data can be manipulated. Unfortunately, we can't necessarily take things at face value.

Cherie

EXACTLY.

Not too long ago a new drug efficacy study was released. It came up in my news alert and I think it was posted here as well. I couldn't find the sample size anywhere I looked so I emailed the study information contact person to ask. That was almost a month ago -- as of this date, no response and I'm not holding my breath for one!

Thanks, Cherie, for posting that study and also for your thoughtful comments in this thread. Interesting stuff.

I, too, wonder what happens to these people 10 or 20 years down the line.

These study findings DO explain, I guess, why my neuros both closed the door on me after a one-year followup.

But it doesn't explain why that first guy told me I had MS in the first place!

Also it does not explain why so many doctors feel it necessary to explain the symptoms as anxiety, hypochondriasis, stress, depression, etc. This may be true in some cases, but effectively, what happens is that these latter things BECOME the diagnosis, sometimes with no more evidence of them than there is for MS!

So why can't they just say... "sorry, we can't explain your symptoms, they do not appear to be dangerous, such undiagnosable symptoms are a common occurrence, call us if anything goes badly wrong," end of story? Without piling that psychological **** on patients without evidence of anxiety/stress etc.?

Nancy T.