Hello Board folk!

I need opinions...So, after a few years of being mis-diagnosed with RLS, the recent conclusion earlier this year (based on excluding other things) has been that it is SFSN. EMG/NCS, MRI, blood tests all normal. Physical exam shows lessened pin prick sensitivity below the ankle. Temp test never done. Vibration response normal.

Pharmacutical-wise: I've been on lyrica 2x/day for about 6 months with good results. I also take 1 5mg Vicodin as needed for breakthru pain (which occurs approx 5 out of 7 nights a week). Considering that I went thru tons of meds to get to lyrica and the vicodin use was previously a lot more--I think this is great (only using about 5 Vicodin pills a week).

But (there's always a but), having no proof of disease is sometimes problematic for me. I see a sleep specialist because it appears I also have ideopathic hypersomnia, the attending physician seemed to think it was ludicrous that someone taking "narcotics" should be prescribed stimulants. Seriously, I would prefer to take no Vicodin, pal! It's not like I get 'high' or am addicted to them (as time has proven).

Do you think I should seek the punch hole test with my neurologist? If it comes back negative does that necessarily mean I don't have SFSN? I just want to feel a little more secure with the diagnosis...my odyssey has been so windy that I almost feel like given a new symptom, or the meds becoming less effective, that the diagnosis may change. The doctor (and I) was positive it was RLS, who's to say the second diagnosis is really correct either?

......that it could be a good idea to have the skin punch biopsy done to verify SFSN. I am no expert and don't know much about whether a negative skin biopsy always remains negative as symptoms progress further or whether the skin biopsy can change. Sounds like you've had this for a while so hopefully any changes would already be evident.

It must be somewhat confusing for you having your diagnosis changed from RLS to query SFSN. Have you had a change of doctor to precipitate this clarification?

I agree with you when you say that "having no proof of disease is sometimes problematic for me". I am still undergoing diagnoses for cause of my PN but at the moment I feel like it is not a legitimate condition when it hasn't got a label. 'Illegitimate' is certainly the way one can feel when one is being treated by the medical system, especially when you are only experiencing symptoms but expressing no provable signs of a condition because of negative test results.

Hope you can resolve this for your peace of mind!

Is a punch hole biopsy the same as a nerve/muscle biopsy?? I haven't heard the term punch hole biopsy before. Thanks!

--and a lot less invasive.

The punch or skin biopsy is designed to examine intraepdiermal nerve fiber density and condition--specifically, the small, unmyelinated fibers that subsume the sensations of pain and temperature. It's a fairly new procedure, and still is only done at a handful of tertiary centers across the US (Cornell-Weill, Mass General, Jack Miller, Hopkins--though the latter has a program now through which any dermatologist can take the proper 3mm across/1 mm deep skin samples and send them in for analysis, which requires electron microscopy). Often, for people with normal nerve conduction studies and other tests, but painful neuropathies, this will be the only test that shows anything, though it rarely, if ever, points to a cause.

The nerve biopsy, usuallly performed on the myelinated sural nerve, involves a much bigger/deeper incision, as some muscle is normally biopsied as well. It may point to a cause for certain neuropathies--especially autoimmune vasculitic ones secondary to connective tissue disease--but the diagnostic yield may not balance the dangers from the cutting. One should not have this procedure done except by a real, qualified surgeon--there are too many stories of permanent damage/numbness when these are done by your run-of-the-mill neurolgist.

Does anyone know if punch skin biopsies are being done in Atlanta?

I can go on forever on the epidermal nerve fiber density biopsy, or 'skin' biopsy, which is not really a biopsy of skin as much as a piece of skin from which they determine the density of small nerve fibers. I utterly agree with Glenntaj.

It is confirmatory, in that it is never wrong. If you have abnormal results, they are indicative of small fiber neuropathy.

I don't like doctors taking potshots at diseases when the technology exists to do a solid, quantifiable diagnosis. PN or peripheral neuropathy has many manifestations. My feet did not burn one iota. My calf biopsy has less than 2fibers per mm. 7 is normal. My feet have 2.5 fibers/mm. The thigh is normal but showed sweat gland innervation was reduced. The fore arm was normal number of fibers but showed that the pattern of innervation was not normal, and the sweat glands were not innervated normally. My biopsy is 3 years old this month, and I am sure if one was done today, it would be the same or worse.

If I had not had this done, I would not have the 'diagnosis'. The numbness and tingling could have been MS....or some other disease, who knows. That said, small fiber neuropathy is akin to knowing you have a fever. What is causing that fever is a totally different issue. Now that I know I have small fiber neuropathy, other testing showed it is also autonomic, which means, for example....I don't sweat to heat. That is a critical thing to know. I also learned a lot from my tilt table test...and other testing for causes, which turned out negative. Other tests will likely be done.

Lastly, is the issue of causation, which takes a long time and tremendous work to figure out. Some causes are on the cusp of discovery of by some of the brightest minds out there....just reading their work makes me humble. I can't believe people come in that 'variety' of smart. It is like Steven Hawking smart, but in molecular biology and genetics.

I prefer to know if a disease is curable or not, treatable versus curable. Symptoms of PN can be treated with varying degrees of success depending on each and every individual's personal case. Treating the cause of your neuropathy may cure your neuropathy. Without knowing a cause, you can only treat symptoms.

There is no generalizing symptoms, causes, or treatment of the mystery of PN. The best we can do is share what we know, admit what we do not know, and support whatever choices that we all make as individuals.

High quality nerve fiber density studies are done, as Glenntaj said, at tertiary or what are known as research centers. I would love to see an idiopathic PNers who want to find a cause, get care at those centers. If you know a cause for your PN, it is less critical, as you can likely get treatment for the cause at a specialty clinic for your disease with consult to neuro. (Such as people with rheumatologlical disease and neuropathy who see both specialties, or diabetics or endocrinological disorders who also see neuros.)

Some people prefer not to keep searching for the cause of idiopathic PN, and that is fine too. There is an end to the internet, at least right now.

...It is the same doctor that is treating me. When I went to see a neurologist that specializes in sleep disorders (when things had totally broken down and sleep was all sorts of broken because of the pain I was in), the attending came in to get an overview and he's a big name doctor. I had originally tried to see him but he was booking out 4 months and I couldn't wait so I took the first available. Anyway, he came in and said it sounded more neurological than RLS and referred me back to the original neuro for follow up.

When I suggested to him that maybe I shouldn't go back to her since she missed the dx, he (in my mind) overly defended her indicating that there is definite overlap in the symptoms between the two, yada, yada, yada. I've since read up in some places that this is true so it's not like he was lying. I just didn't appreciate the sticking up for the other doctor--which I've also seen from other doctors. Maybe it's fear of lawsuits but I think it is not often possible to get an honest opinion out of a doctor in regards to another doctor!

So, I had a neuropathy specialist all identified to go to but I figured I'd hang on with the original one for a bit to see if now that RLS was ruled out the rx's got any better and the first one we tried was lyrica. Since she believes my pain and has no issue with the vicodin usage, I was also hesitant to just drop her. I didn't think I could show up at some new doctor's office and say, hey, I've got SFSN, I think. Can you help me and also give me vicodin?

I go back to this neuro in Jan and am going to ask her about the punch hole test and see what she thinks. Maybe if she thinks otherwise, I line up the appt with the specialist...I do like that this isn't a critical decision and that I can take my time with it. It's so very unlike everything else lately medical-wise where it is mission critical.

No wonder you want definition, i don't blame you one bit.
If i am reading this right, when the neuro done the normal pin prick to test how your small nerves react and found then it was abnormal below your ankle then it really surprises me that they didn't do Quanitive Sensory testing in the next step of testing to confirm more evidence of small fibre damage, but finding the cause isn't always so easy as you probably already know.

Ideopathic Hypersomnia ??? what about Lyrica's possible side affects can cause problems with memory or concentration, tiredness & Vicodin is another that can cause side effects that may impair your thinking or reactions and warn to be careful if you drive or do anything that requires you to be awake and alert, so any wonder you feel tired enough to ask about stimulants, you would think that that doc would have explained those possible side affects of the medication you have to take, without saying to you your request was ludicrous, some of the medical people are defiantly in the wrong job, and believe me i have a found a lot of them in the time i had PN.

I hope you get definition of your problem and especially find the cause.
good luck
Brian

ahh Brian, you bring up the "treatment continuum" I seem to be in. If the Lyrica and Vicodin relieve the pain but may be adding to my tiredness---what is the alternative?! I ask you in jest because I don't know the answer and I don't think they know they answer either.

That's what I said to the mean doc..."well, if I'm not on lyrica my 'narcotic' usage will go up substantially, what would you have me do?".

No one seems to want to own the overall picture. If they told me to go off of the lyrica to assess the tiredness off of the drug, but were willing to accept more pain killer usage I'd certainly give it a go.

Truth be told, I've been tired forever, I don't think the lyrica makes me anymore tired and the vicodin has no affect other than dulling the pain--sometimes getting rid of it completely, other times just taking enough of the edge off.

If I could do it over again, knowing now how not normal my tiredness was, I would have attempted to treat it years ago (before SFSN officially entered my life). I dutifully told my Primary Care Doc at every annual exam that I was tired--for years. It wasn't until the answer to the following question "Does your tiredness interfere with your life activities?" was 'Yes' that I decided to do something about it.

That is why these message boards are so valuable. Sure, one may find some people with extremes of conditions, exaggerators, etc. but all of the information taken together: posters stories, questions and articles makes it possible for people who are really in the dark to get some education and feel like they are not alone in their quest to feel better or learn what might be wrong.

I am not sure how a doctor misdiagnoses RLS....this peeves me. If a patient has RLS....they know it. It also shows up on polysomnogram, as movements every every 8 seconds or so....with flexion of the foot, and sometimes the arms and upper back have it. RLS patients do not sleep at night especially between 7pm and 3am...some progress to daytime RLS...insomnia usually characterizes the disorder. RLS is not a vague feeling of heaviness or even pain in the legs. It is a movement disorder treated in general with dopamine agonists such as Mirapex (pramipexole) or Requip (ropinerole). Amitripiptyline and SSRIs are generally contraindicated as are drugs like zyrexa or any drug that suppresses dopamine. Lyrica is an antiseizure drug that quiets sympathetic nervous system activity, which may indirectly calm down RLS, opiates also calm RLS. Some patients with RLS are 'cured' by getting their ferritin levels up to over 60. RLS often is found with neuropathy. You can have normal nerve studies and a whopping case of small fiber neuropathy by biopsy (epidermal nerve fiber density)...which is the one that most good docs will do first these days. It is newer technology. They used to always do sural nerve biopsy and those are done less now that we have the skin biopsy...it does no damage to a nerve.

From what you say, it doesn't sound like you have RLS. There is also a condition called PLMD, Periodic Limb Movement Disorder, which is similar to RLS and most people with RLS are concurrently diagnosed with PLMD. You may not be aware you have PLMD, as it occurs during your sleep, unlike RLS which keeps you from sleeping. RLS is just like having a tic...you can't help but move your leg...or if badly affected, arms and back as well. I am blessed with both conditions along with my SFN and they do not know what is causing my SFN yet. I have had RLS since childhood.

If you are in pain to the point you need narcotics and they do not know for sure if you have SFN, that is something to be concerned about. Pain is a symptom....RLS is a symptom, and SFN is a symptom or 'sign' as they say, of a disease process....they are not end points but beginning points to a journey that will get you, hopefully to a solid diagnosis, which CAN be treated. If you find a cause, you may be able to stop, or perhaps recover from the neuropathy....if you don't you keep looking or accept it for what it is, a mystery.

I would be the most concerned about finding a cause of your pain.

Lyrica does make you more sleepy. Opiates in some people keep them awake, in most people it makes them sleepy.....(opiates keep me awake)....Lyrica makes me sleepy, tired, forgetful and grumpy....but it helps pain...so I am a troll many days. Mirapex causes sleep attacks in some people, as does Requip....(it keeps me awake)

On sleep, Ambien works well to give you a good night's sleep, if that is an issue, but more important is what is causing you to feel sick in the first place.

So long story short, yes, keep looking.