What strikes me as extremely odd, is that every time Alan saw a new doc, whether it be a GP, rhemo, Neuro (we saw LOTS OF NEUROS), it didn't matter. We would sit down and Alan would tell them his symptoms and I would the say "oh, just for the record, Alan's mom had Guillian Barre Syndrome when she was 45 or so". And immediatly (and I mean immediately), they would say "oh it's not connected" (and I'm talking 18 years of doctor visits, way before I ever found this board), And I've been on this board for a few years now.

But every doctor would look and gently smile, and sadly shake their head no, and say: "His mom's GB has nothing to do with his having neuropathy", and no one ever suggested a lumbar puncture.

I mean, it makes the mind boggle, at the incomplete workup that this man has had all these past years. Even though we went from doctor to doctor, getting tests, and different opinions (and no one ever said "Oh let's do a lumbar puncture", They would just look at me telling them about his mother and the Guillian Barre and say emphatically "no, it's not connected, GB has nothing to do with Neuropathy, and you can't inherit neuropathy and then they would say "Oh, are you sure he's not a diabetic"??

And I would say "he's had every diabetic test known to man, (even Dr. Fred ran the very latest ones). "he does not have diabetes". But then he had the LP and the rest is IVIG history!!. I expect that any new doctor that Alan will eventually see (I mean we all see different doctors eventually, right??), well any new guy will just hear the word neuropathy and say "oh, is he diabetic"??


jeez!!!

Taking home photos of ones' self nude except a paper bikini, purple with yellow spots, or stripes, or whatever, strikes me as a bit more kinky than anything I expected to happen there. But I've got mine in my medical looseleaf!

Turned out I didn't sweat in my hands, feet, face, or armpits. The latter explains why I stopped needed deodorant. (there's a bright side here) They're odd people out there at the Mayo....

Ha
 

I really thought that as well,so LJ i'm glad you came right out and said
it. And Mel wouldn't doubt it,but you better hold on to Alan,because
a Dr. just might surprise him,well hold on to each other,cause miracles
do happen..Shoot that would be great. Hugs to all Sue

And oen of the other things--
 

--that is starting to be investigated as regards the high autoimmune rate for those who live at higher latitudes--both Northern and Hemisphere--is the link with low Vitamin D levels. In fact, it is speculated that a number of the mutations that have occurred among Northern Europeans--lighter skin, ability to digest lactose into adulthood--may well be evolutionarily related to the need to maximize Vitamin D3 status.

Over at Braintalk, Ted Hutchinson has been compiling an enormous database of material on Vitamin D and its link to other conditions, including cancer. The material is well worth reading.

http://brain.hastypastry.net/forums/...ad.php?t=24731

http://brain.hastypastry.net/forums/...ead.php?t=2822

yes, Vit D
 

The fact that the medical profession has latched onto this so quickly amazes me.

Why don't they understand B12 the same way?

I am still concerned that people will do things willy nilly, and take too much.
So for people with chronic pain and other neuro issues, please get tested.

I've been doing about 1000IU daily (3 x 400IU tabs from Naturemade D3) for 2 winters now. I don't take any in the summer when I tan up from being outdoors.
I had noticed that I feel and move better in summer and then crash in winter and ache more.

I have not had a D level run yet. And I am doing my light visor every day now, started in Oct. The light therapy makes a HUGE difference for me. Much better pain levels.(reduced). Less stress too. (but my job called yesterday, wanting me back---have to consider that one carefully!)

I am 55, and I live approximately 3 hours east of Mayo, which doesn't put me in Minnesota. My great grandfather is buried not far from Duluth, so I have family that settled Minnesota. My grandmother ended up on the 'Norweigan' side of the Mississippi river, LOL.

Many neuropathies are inherited.

Charcot Marie Tooth (CMT) and the HSNs (Hereditary Sensory Neuropathies) of which a new one hits the list every few months, are inherited. In addition, other diseases, which are inherited, such as Porphyria (autosmal dominant) result in neuropathy. There is a whole other category, 'Myopathies' which are named for muscle degeneration, but of which 49% can have PN. This group was at one time categorized and named into quite a few diseases by symptom. Recently, they have blown that all away, finding a variety of symptoms in families from very mild to very severe. Many of these myopathies go undiscovered because they are adult onset, median age 64, range 7 to 77. Unless the disease is severe and family realizes there is something going on, it goes undiscovered, misdiagnosed and remains, idiopathic.

Now, since the human genome has been mapped, all the diseases that used to have names are all being clumped into one, myopathy category until they sort out the abnormal protein accumulations and connect those to a gene. That will take a while.

Many people suffering from any of the idiopathic diseases, such as fibromyalgia, neuropathies etc, could, and I just say, could be in these categories of now un-named inherited neurological myopathies.

Many of them are autosomal dominant and not sex linked. Duchennes Muscular Dystrophy, a genetic, terminal illness, is a sex linked dominant disease with accumulation of a protein which they can link to a gene. There are others that are sex linked and gene linked.......HOWEVER

There are many that are not sex linked...they come from either parent, and are dominant. There are also recessive ones, but dominant ones cause the most havoc as they give a 50/50 chance of being passed on regardless of sex. To make matters more complex, symptoms vary from almost non-existant to very disabling within the same nuclear family groups.

Any one wanting more info can check out neuro.wustl. hereditary myopathies.

Again, they are rare, they do run in certain homogeneous ethnic groups. We are less aware of them here in the US as we are less in touch with extended family and genealogy past a great grandparent.

Don't expect to go to your neuro and have him act on this info....it is a really rough go to get it. You have to substantiate your need for further consideration. In other words, know a long family history, and have that history be from an affected area. Plus you need symptoms other than neuropathy. There is cutting edge research going on regarding this and it is no where settled. It only brings up more uncertainty. It is a hard place to be.

They can not do a test and say 'Yes, you carry the gene". We are years away from that.

I have always said, PN is a symptom.

A book??? Well, we will see. I don't know if I write that well.

And, I did not get to take home my pictures of me in the paper bikini...(Lord, my self esteem is bad enough-I did not want to see them!!!)

I have been in Sweden and experienced the midnight sun. We do not have that here where I live, although now and then we get some great auroras. Once when I lived 100 miles north of here, we actually ducked as it seemed they would hit us. Midnight sun does make an impression on you. Yes, I do get SAD. I have a light, and just cope. I think most of us in the northern tier states have a bit of trouble with the light swings...even though they are not as drastic here as in northern Scandinavia or Alaska. You just cope. It gets dark about 4:20- 4:15ish here...I think. I don't pay attention. It gets light around 7ish. Not too bad.

Remember when you look at the neuro.wustl site, that it is already obsolete in some of the hereditary myopathy categories. Such as Welander Distal Myopathy is really no longer a disease and it is not localized to gene 2p13. Many of those disease categories were blown away by recent research. They are back to square one.

This time they are looking at abnormal accumulation of certain proteins, they have roughly 6 to 8 and are adding more as study goes on. The diseases will come out as Myotilinopathies, Zaspopathies, Crystalinopathies, Desferlin, or Deminopathies....EVENTUALLY----isn't being done yet.

Plus there is no cure.

Plus you do not need a diagnosis of genetic disease in your family to keep people from being insured!!! Once genetic diseases are identified in families, a person can be denied insurance or worse.

This is tricky business.

I have been studying this for a while and had to weigh the risk versus benefit.

I have a risk, we have early cardiac deaths in my family, and one of these 'diseases', has that, preceeded by nonsustaining ventricular fibrillation, which I have.

Recently as September, 'silencer genes' one which turn off the disease, or allow the dominant gene to produce disease are being investigated.

This is stuff not even ready for major studies. It is cutting edge molecular biology of great minds, and I do not get the real technical stuff.

It is something to think about.

PN has a reason, some are more evident than others. There are different PNs.

All disease eventually breaks down to a molecular basis, but some diseases are evident, such as diabetes, inflammatory disease, etc.

Genes also interact with environment.

Complex stuff....most people who study this do not work with patients....a few do, or are willing to try to exhaust all possibilities. This is only a last ditch effort, and considered only because I have a history of an ethnic group that is associated with this disease as one quarter of my genetic makeup. Again with dominant genes it doesn't matter if it is a sixteenth. Dominant genes plow thru pedigrees. 72 pedigrees from my area have been identified as having variants of this disease...and that is just what one researcher identified. I have hundreds of individulas and could have a person in those pedigrees as an ancestor....then again, I may not and I could still remain idiopathic.

All this will show is what I do not have.

Potentially what I could have....if it ever gets a name, with a small chance of having something identified, and goody, there is nothing to be done for it!

Hi! Been reading the responses. VERY interesting.

Managed to get a neuro consult yesterday morning. My EMG was NORMAL, which was surprising because the last one in 2004 wasn't. Sweat test, as you probably figured out, was normal too.

The neuro's name was Dr. Joon Uhm. Nice guy. When I asked him if the normal EMG might have been a sign that my neuropathy was actually going away (and the new buzzing sensations a sign of healing), he said that Sjogren's isn't always progressive, that sometimes symptoms wax and wane with the illness, so it may not be entirely gone.

He was concerned, however, about my stroke-like episodes. I get these horrible migraines accompanied by speech and cognitive impairments and motor skill problems. I've had the most obvious potential culprits, like MS and actual stroke, ruled out, but this doc wanted to make sure we weren't overlooking anything else before we attributed the episodes to Sjogren's.

So this morning, I had an MRI of the brain with contrast to make sure there weren't any blood vessel problems or even lesions that maybe weren't there when I had my last one three years ago. And tomorrow, I'm having a heart test where they put a tube down your throat with a camera on it to look at the top part of the heart to see if there are any small holes in my heart causing problems. And they scheduled a lumbar puncture.

But when I went through all the tests in the order they were scheduled, I saw some potential problems. The last time I had a lumbar puncture, I had a spinal tap headache so severe that I vomited every time I sat up, for an entire week until I went to the ER for a blood patch. The only time they could do this was this afternoon, when I still had two tests and four consults left to do.

The other problem is that they had scheduled me for a tilt table test the day after the lumbar puncture. Not cool, being told to lie flat and rest and then all of a sudden being flipped around to see what my blood pressure does. And the heart test requires fasting and the potential use of drying agents in the mouth, where the tilt table test scheduled for later that day they want you to stay hydrated for 48 hours prior.

So the first thing I did was get cancel the lumbar puncture with the neuro's permission. He said I could have it done back at Sioux Falls when I don't have any other tests to do afterward. Then I went and did my pulmonary function test, which I think I might have done ok on.

I tried to get the autonomic test changed to today so there won't be any conflict with the heart test. I was on standby for two and a half hours, and they got me scheduled for 2pm today. If I get done early enough, I'm going to see if I can squeeze in the pulmonary consult.

That leaves the heart test for tomorrow morning, and I'm going to try to get the re-check with the neuro moved up if I can so I get my final visit with the rheumatologist maybe before close of business Friday so we can get back to Sioux Falls on the weekend. My husband is only authorized to be off work this week, and if I have to stay longer, he'll have to drive back and get me later, which seems a waste if all I have left is an ENT consult and the final wrap up with the rheumy.

My fatigue has been absolutely horrible. I have dozed off in the wheelchair every single day pretty much any time I have to sit still for more than 30 minutes, during just about any test that requires me to lie flat, and back at the hotel room while watching tv or a DVD. Had a mini-meltdown yesterday where I was so exhausted I wanted to call off all the tests and just go home.

But I might as well get it all done while I am here, even if I am discouraged because all my tests so far are indicating that I am just fine. That would be awesome if I felt as fine as the tests said. We'll see how the rest of the week goes.

My husband and I did go to dinner yesterday, at 4pm since I need plenty of time to digest restaurant food before retiring at night. We'd gotten four more inches of snow, but it was nice to go somewhere besides the hospital. We're supposed to get more snow tonight, and then more snow on Saturday, so that may also dictate when we head home.

Time to head back to the neuro department to see how early they can get me in to the tilt table test. I prefer to think of this one as my amusement park ride. :D

Will pop in if there's time tomorrow.

fanfaire
:cool:

I know your wore out,and I fell alsleep, just knock out sleep anywhere
and most of it was someone waking me up. Both at Mayo and
Barnes. I know how tired you are but please finish if you can,you
know how lucky you were to get in there. I didn't like the cam. down
the throat,but it really saved Bob's life..They found 2 very large holes..
They didn't know how he was walking around..You are a very strong
women so keep going. I'm so pround of you and hubby,and I'm glad
you had your dinner..Thanks for posting it means so much to all of us.
Many Blessings and ton's of hugs.. Sue

C will pm you,and Glen and Mrs. D thanks for would be good information..Mrs
think very carefully about the job,but I know you will. Bob is 79
i'm 61 we both burn in the sun, how much Vit. d would we need,we eat
alot of greens..Any ideas would be welcome. Thanks

Fanfaire,
 

When do you get the last consult with the neuro? Will you have a "diagnosis" before you leave Mayo? Have they firmed up the sero-negative Sjoren's diagnosis?

I know you are bone weary. It was such a struggle when I was there. I cried some of the nights because I was in such pain and so tired. But you worked so hard to get this appt., did so much preparation for the trip, spent so much money, etc. etc. Stay until it's finished. It's important. If you have need of it, the Mayo optometric (think that's the word) I'm brain dead. anyway, they make a wonderful moisture chamber eyeglass. I wish I'd stayed to get one.

Good luck, grit your teeth and finish this. :hug:
Billye

Fanfaire?
 

Please hang on? Get as much done as best it can be done...to as much as you can stand. You know well, how important this is in the long run. I truly admire your strength and steel-magnolia like will to get thru all this. Just imagine tho...all the things that can be 'checked off the list' as NOTs and AREs! Sometimes it's a small comfort compared to how you really feel, but at the same time, you have top-notch proof it 'ain't in yer head!'
As for the MRI w/contrast? My own esitmations and feelings about that test are: STIFF afterwards! Because the rooms are COLD and you can't even wiggle a toe. As for the Heart Scope test-thing? I'd had it 'out-patient' near home, and while they put you out for it, there are no real side effects [usually] other than a teeny bit of sore throat. THAT mite be a bigger issue for you, so...ASK about prep and follow-up preventative measures-tho...don't allow yourself to become more vulnerable than you are.
I understand that it mite be good to 'wait' for the spinal to be done at home...just so long as you KNOW the samples are gonna go to Mayo tho, for evaluations...best to be consistent here? My own spinal stuff went to Mayo and Athena and both results came up the same....Best to have that 'double back-up' at times-ya know? I know that I'd gotten the start here where I live at a big-city hospital...but 80% of the tests were 'farmed out' So's I could do one on Monday, Tuesday and Friday...and variations the following week...but the ordering doc got all the reports and if any result were 'off' I'd have been retested.
The sweat test thing, what a STRANGE thing! I am soo glad I missed that! AND the tilt-table thing. I'm posting under a separate thread web-sites that tell one more than they ever wanted to know!
I am glad that you and your husband/friend [you know what I mean!] got out last nite. A good break from being 'under the scope'! Keep strong, get as much possible done, then....GET HOME SAFELY! We all care about all of that.
Hugs, Heart and HOPE! Thanks for letting us all know what has been going on. After all, it could be 'our' turns next? The more we know, the better we can get thru it all, learning from you.
Hummm? I do NOT think I'd do well on the 'tilt-test'? I guess it's cause I'm all ready off-center? Hugs again! - j

pardon my lack of capitalization....one arm is uncapacitated right now...not a problem.

fanfaire i agree that u should get as much done up there as u can....having most tests at one research facility is the best medical care around.

if they tilt your head up and do not suck out fluid during the lumbar puncture, and let it drain it takes longer but u have no or less head pain. i had mine on a tiltable table, 20cc taken-no ill effects....however the tilt table test i flunked..that is icky for me.

you r also having transesohageal echocardiography...a good idea.

keep us posted.

u r in 4 more sno i think...we r in the 2-4 inch range with a low of 2 degrees tonite...not counting windchill....also watch 4 saturday...sno and freezing rain is possible 4 me....u r 3 hours west and a titch, not much north of me....hang in...it is hard 2 get into mayo---u r fortunate...i know it doesnt feel that way rite now.

i had a biopsy 2day---cant use arm 4 2 days....pain in the butt...however i am fortunate 2 get such a high level of care....sorry 4 2 posts but i will timeout otherwise.

this is lke txt mssging.... r we bffs, lol;)

also r they doing the skin biopsy....have u had that...emgs do not pick up small fiber neuropathy...my emgs r normal. r they doing all the bloodwork..i assume u had the lip biopsy and it was abnormal...sorry i cant hit any cap shift key. i can not use my left arm 4 a few days...god, net withdrawl, lol.

Hi! Sneaking in a short reply before my neuro consult. Sat around 4 hours today waiting to get in to the ENT consult, but they couldn't fit me in.

They've decided against a nerve biopsy for now. Will be asking if my diabetes might have caused the neuropathy. I've had the diabetes under excellent control since 3/2005, so maybe that has improved the situation?

The tilt table test was interesting. They had a hard time getting my hands and feet warm enough; I don't know why that's important, but they had to put heat packs on all my limbs. My blood pressure did drop when I was tilted, but I don't know how much it has to drop to be considered abnormal.

Did the TEE (can't remember how to spell what it stands for) this morning, the heart ultrasound with the camera in a tube down the throat. They were careful about the amount of sedation since I react to it sometimes, so I was mostly awake for it. I overheard them talking about something on the screen and I could kinda see it, but I was too out of it to really comprehend if there was a problem or not. :D

Unfortunately, I have three consults left but no time left this week. The ENT consult wasn't until next Thursday, and the other two are in January. So I am going home this weekend, I have rescheduled the ENT consult for the same date as the pulmonary one, and I will come back here January 2nd because my husband has New Year's Day off and we can use it as a travel day, and I will try to squeeze in the final appointment with the rheumatologist on the 2nd if possible.

Unless the neuro finds something new this afternoon or the ENT dreams something up, I am all done with tests. So that's something.

Better go get ready to see Dr. Uhm.

fanfaire
:cool:

Have a safe trip home, watch the weather.

Yes honey be very careful on the roads,why because we like you.
You did very well,it could be the Diabetes that contributed to the
neurobathy..Mine has been in control for some time,but ya just never
lmow. You did well,get home and get some rest.oh and tell Your
husband he's a good guy...Hugs to you both,and all Sue

Question fanfaire
 

Have they determined anything about the seronegative Sjogren's? Do you have Sjogren's or not?

Have a good trip home, be very careful. I know it was all hard and physically demanding. Hope it was worthwhile. Get some rest.

Billye

Polyneuropathy has long been acknowledged to be a 'result' or at least what I would call co-morbid with diabetes. I have also read that even tight blood sugar control was not a variable in progression.

Why do you think that is that strict sugar control doesnt always stop the progression of PN? Does inflammation breed inflammation in a vicous cycle?

Polyneuropathy is very associated with diabetes. It's a given. The process is not known.

Polyneuropathy can preceed diabetes by up to three years.

I think diabetics need to control blood sugar as best they can, because our bodies are made to function best with certain blood sugar levels. Yes, high or low blood sugar level is bad for the body. I think people need to eat properly, exercise and take the best care of themselves that they possibly can.

There are also several types of diabetes, altho, they all result in malfunction of insulin production or metabolism.

However, has any one considered that perhaps the pancreas doesn't function well because there was some neurological malfunction that upset its function? Is it chicken or the egg? Pretty radical thinking.


Polyneuropathy identical to that which occurs in diabetics occurs in people without diabetes.

Small fiber neuropathy can stop the function of sweat and lacrimal glands...can it possibly interfere with the function of endocrine as well as exocrine glands?

Lest, I not have made myself clear in the last post.

Diabetes results in a cascade of dysfunction, high blood pressure>>>kidney damage. High blood pressure>>>blindness. High blood sugar causes vascular malfunction>>poor wound healing>>>amputations. Diabetes, either early onset or type 2, adult onset, usually due to metabolic syndrome is not a good thing.

Diabetes in young females predisposed them to pre-eclampsia and pregnancy failure or complications. Also, high birth weight infants are born to mothers, who altho not diabetic at that time, later develop diabetes. HMM. There is also gestational diabetes.

Thin, healthy people suddenly get type 1, or insulin dependent diabetes out of the blue...yet diabetes does run in families.

Diabetes is one of the biggest causes of functional impairment and life threatening complications. Not to mention, poor sugar control can leave you hyperglycemic or hypoglycemic, both of which can kill you, in pretty quick time frames.

I suspect that perhaps the vascular component of the diabetes could interfere with microvasculature that feeds small fibers.

What I am saying is even people who fastidiously control blood sugar are not usually able to stop progression of small fiber neuropathy. I would sure keep my blood sugar controlled if I had diabetes, with out a doubt, whether or not it is proven at this point or not to help my nervous system. I would assume that poor blood sugar control hurts every organ system, because it damages so many. But a diabetic who controls blood sugar fastidiously, and has progression of SFN can't do much more than that in terms of trying to prevent progression of SNF

Also, of importance is that Glucose Tolerance Testing, should be done on every one with SFN. Many people with SFN will have Glucose Intolerance or abnormal Glucose Tolerance Tests. Often times docs won't want to do GTT because of the new hemoglobin monitoring of blood sugar. I am not sure if the new hemoglobin testing gives the same information that the GTT does.

It is highly complex. I just had a muscle biopsy to see if I have a myopathy, with the thought that some of my symptoms may be myopathic, however, the neuologist, said, it is still likely neurogenic and myopathic changes may be due to neuropathic changes, which could be hereditary. If my muscle biopsy is abnormal which caused which, myopathy causing neuropathy, neuropathy causing myopathy, or some totally different thing causing both.

By the way, diabetes also causes myopathy.

Disease causes and categories are changing, rapidly, and yes, inflammation, autoimmune, and genetic/hereditary triggers are all being researched. In ten years, many diseases will have new names and new causes will be discovered.

But mind your blood sugar!!!

Diabetes is one key, but there might be others?
 

Such as those due to auto-immune 'cascades'. Being a 'beneficiary' of the latter, I appreciate all body defense and destroy actions/reactions. Hereditary or not. I wish I could get genetic testing to conclude positively or not that my own condition is genetic or not. Not ONE of my physicians seems to show a 'whit' of interest in this quarter.
To be diagnosed with a genetic 'connection', well, would enable me to receive certain therapies I would not qualify for under my current CIDP diagnoses [as CIDP is considered ACQUIRED Immune disease, not hereditary] Hereditary issues are considered 'primary' conditions and now more readily covered for many key therapies.
Face it, 90%+ of neuros do not go beyond diagnosis, and pallative treatments. Most cases, there IS nothing more than 'pallative' treatments. The rest we have to 'go fish!' on?

That was off track SOOOO FANFAIRE? HOW ARE YOU? - j

I suppose it will be a while before we know anything much conclusive on Fanfaire. I also assume she is enroute home???

On the genetic/hereditary thing....I think the docs use algorithims, basing them on the incidence of given conditions. When they hear hooves they are not thinking zebras and usually they are correct. It's a horse or a mule.:D

Hereditary testing is going to be the new ethical dilemma. Most hereditary conditions are not curable or treatable, a few are, but in general, they are not.

Depending on which 'hereditary' disease you have, yes, there are some organizations that provide some assistance. Most hereditary disease focused on kids, and now low and behold, they are finding adult onsets in some of these hereditary disease categories, as well as symptomatic carriers, which will in the long run increase the financial burden on the non-profits set up to fund raise. It will become a competition, I suppose, for limited resources.

Having a hereditary disease can end up with discrimination in jobs, health insurance etc. I would never search for a hereditary cause unless: you are financially secure, are not actively job seeking nor intend to be, are not looking for health insurance or life insurance, and you plan to keep this out of your children's health records, as they will also be discriminated against.

There was just an article in today's paper on genealogy services that offer to trace your origin via DNA and what the implications of that can be in the future. (They do them by number and try to insure confidentiallity, however, what is confidential anymore?!?)

Small fiber neuropathy is a component of a whole lot of hereditary diseases, I was floored to find out how many. I thought I knew them all. Hereditary implies they know the gene locus, and often, in most cases, really, they do not know the gene locus. They likely will in the future, but not now. It can get you lumped into a grab bag of some hereditary disease, say, for example a muscular dystrophy (of which there are a ton). Will you get help from MDA? I don't know. One hereditary amyloidosis may be treatable by liver transplant, so, if you are idiopathic and haven't had that test, it is worthwhile to have the fat aspiration for amyloid.

CIDP, means there is an inflammatory component. Have they established that with certainty. Inflammatory to me, indicates some autoimmune process.....Are you on IVIG? If it is hereditary, IVIG is likely not an option. Braces, orthotics and assistive devices are the option.

I agree that CIDP is also getting to be a grab bag of conditions...but I am assuming, that the 'inflammatory' in the diagnosis, means the docs have established that inflammation of some kind is hurting the nerves. I hope they came to that conclusion with a degree of certainty.

They can't just do blood tests or cheek swabs and check the entire genome for mutations.....it is immense. If you have a ball park idea, then you may get some other testing...but you have to have a ball park idea of what that genetic mutation could be....family history, ethnicity, and an history of a population that dwelled in some specific area that is associted with some specific diseases helps. Some folks just have no records to trace, others are more lucky.

The genealogy swabs they do for shared ancestry with other people signed onto genealogy websites, I suppose is a long shot possibility to help with ethnicity....but I don't know. I think they are more for hobby purposes.

Really examine family history if you think it could be hereditary....and have an idea of what diseases or disease family it could be leaning toward.

I am a long way from having any hereditary basis established for my own condition, and it is possible it may not be one. It is just one area to consider when there is nothing left but zebras....when the horse and pony show is all over and done with.

I have a question!!
 

Since Alan's mom had Guillian Barre when she was 45 (died at 53 of heart complications due to obesity and other stuff), and Alan has been diagnosed with CIDP, (he got the neuropathy in his early 40's), does this necessarily mean that our son will get some form of this.

Our son has Aspergers and is on mood stabilizers, and recently found to have an overactive thyroid. He's now on armour, and is stable. He's not psychotic or anything of that nature, but obviously has mental problems.

I'm just curious if he has to face hereditary problems also. Is this an absolute given?. I know that there are dominant genes and recessive genes. But this CIDP being a variant of GBS, well, it's something to think about. One good thing, no one on my side of the family had any kind of MS, neuropathy, nerve problems etc, (my dad was 80 when he became diabetic, as was his mother, at the same age), but nothing resembling neuropathy on my side of the family. Most of the people on my side of the family had cancer (aren't I lucky???) I have no idea which side gives the dominant or recessive gene information.

My son has all the information on his father's condition and he's a computer genius so if he wanted to know this info for himself, he can just google it. Which I'm sure he hasn't done.

I just wanted some answers (if you guys know, that is) .

Thanks, mel

Who has heard from Fanfaire? Is she caught in the ice storm? There are areas without any power.

Hi Mel,

I wish it was that simple. It isn't. They have not isolated the genes that cause most of this stuff. So the answer to your question, will your son get this is, is, no one knows.

There are some diseases, such as 'distal myopathies' and 'adult onset muscular dystrophies' that come with small fiber neuropathy, not CIDP, that have been tracked in families. Some of these have fairly predictable patterns. Just for example take Duchenes Muscular Dystrophy, which is a muscle disease. Of course, nerves die too. That is passed from carrier mother to son with a 50/50 chance and they get the gene. It is a fatal disease for males, females become carriers if they get the gene, altho they may manifest symptoms not as severe as males.

There are a few diseases, Duchene's is not one, that have small fiber neuropathy, as one of the symptoms. (NOT CIDP). Some of those muscle diseases cross over to neuro diseaes, are hereditary, and are being re-examined.

It is these diseases about which I speak....PN is not one entitity.

CIDP could probably have it's own forum, so could many of the diseases which have many types of PN as just one symptom of the disease.

PN entails many types of disease process, many different changes in the neural cells, many different patterns.

I would not worry about your son inheriting CIDP from Allen. Also, the diagnostics when Allen's mother was diagnosed with GB were less specific.

We have to adjust our thinking to new technology and understand that diagnoses, that disease categories, are not all as clear as it once seemed. Two people with identical symptoms could conceivably carry different diagnoses, both of them valid.

The cause of CIDP has not been identified, but they have found it responds to IVIG, which is wonderful news.

Any substantial genetic/hereditary link would seem to have manifested itself by now. They don't seem to feel that CIDP is hereditary, as it is not presenting in families in any substantial number or pattern.

I had some testing done only due to a very specific disease entity that travels in 72 pedigrees, from a very specific location, from which one of my grandparents likely came and the chain goes back 400 years, with intermarraige of these family units.

When all is said and done, it will likely be negative, so my eggs are not in that basket.

It is the same thing as for Ashkenazi people, they have a good knowldge base in terms of what that population carries in terms of hereditary disease...an example is 'Familial Dysatautonomia', another Tay Sachs, etc.


I hope this clears this up.

Heredity and genetics is just not that simple.

I did post a thread on genetic testing.....didn't get any comments on that thread. Genetics and heredity is taking over the Fainfaire testing oddessy....lets move this discussion to the one I started regarding genetic testing.

Cyclelops:

I want to thank you for your explanation. Not that I completely understood everything you said. I think I need to get my own medical degree (and at my age, that's not going to happen). But I read and I still learn.

Alan's foot bled this morning. He thought the new orthotics would do the trick. Obviously not. He has an appointment today with the second podiatrist that he has been seeing. He doesn't want to tell this guy that he's going to an orthopedic surgeon sometime this month. I said "why on earth not"? and he said: "i don't want to hurt his feelings". I said "and what will you say if this guy says 'well, Alan, you're still bleeding a bit (one drop actually), so obviously the orthotics are not doing what we thought they would be doing, so you obviously need to have the bone shaved down, and I'll do it". I said: "what will you say if he says this to you"??? Alan said 'Oh, I'll say: "I have to discuss this with my wife"

I laughed. If this were me, I would simply say "Ah, you finally have come to the conclusion that I need surgery, well I have an ortho who specializes in people with neuropathy". But Alan obviously is not comfortable doing this, so he'll handle it his way.

I don't think the second podiatrist would be offended if a patient found a specialist who is more well versed in dealing with people with neuropathy. I mean, this second podiatrist is the SECOND PODIATRIST. He was the 2nd opinion, right?? So why not go one step further and get a medical doctor, an orthopedic specialist who helps people with PN???

That's my take on it, but Alan sees this as offending his second podiatrist.

Oh well. We shall see what the doc says today. Probably, "go back to wearing the shoe boot and see me in two weeks".

I can't wait until Alan sees the ortho guy. It's been over 2 and a half years with this foot ulcer that keeps coming back and all the oft-loading shoes, and such have not allowed it to heal completely. He has this bone impinging thing going on. Hopefully the ortho guy will examine him, do the x-ray thing and say "okay, let's get this sucker taken care of".

Alan is really disgusted with his foot. I mean, he has the PN between the toes, and this stupid ulcer that just won't heal completely.

So time will tell what ultimately is decided.

Oh, for those of you who have not tried this massage thing by Homedics, Alan bought this thing that you put on a chair. It's by Homedics and it has shiatsu and rolling options on the hand controls.

Well, ......I can't stand anything going up and down my back because I have scoliosis. But last night I was sitting in the chair (it's in our computer room so we can go on the computer and get this massage thing going on.

It was 12 a.m. last night and I looked at the control pad and I saw the upper, lower, full ...options, and I pressed power, and pressed full, and I waited until the mechanism went up to the top, then I pressed some button that lets it stay in one place. I scooted down a bit on the chair and the mechanism did my shoulders and my neck.

Let me tell you something. I sat in the chair for 10 minutes. I went to bed and Alan had to shake me awake this morning. It was 9 a.m. and he was shaking my foot and saying: "hey, don't you want to go to Dunkin Donuts".

This massage thingee did a job on my shoulders and neck, (oh, and when I put it on my lower lumbar area and leave it there), it just kneads and rolls and does it's thing. Alan got this in GNC for about $89.00.

My god, what a nice thing. It takes away all the muscle tensions.

Alan has to use the other massager when he gets into bed. It's a hand held thing he got from Brookstone. He puts it on his calf and he feels that it brings all the oxygen down to his feet and helps the PN. Oddly, I can't stand anything that vibrates, and when Alan turns on his thing in the bed, the bed vibrates and I have to get up. It's good for HIM and his PN, but my legs can't stand any vibrations. How the heck can the same disorder (whatever you call PN), affect two people in such various difference. He loves vibrating stuff on his legs and I can't stand it.

interesting!!!

mel

I have that shiatsu thing from homemedics....only thing....some folks need to pad that chair. I used it and got a puking migraine, but, I still like it...now that I put an extra foam pad on it. I would recommend folks sample it before purchasing it.....some pharmacies and stores have a sample chair.

Again where is Fanfair....I am worried she is stuck somewhere in this ice storm or at home without power. I am fine where I am today...dreary and dismal but that is the Great Lakes at this time of year....(this is why we have water---it is our oil!)

Also, haven't heard from kmeb....worried.

What do you mean PAD THE CHAIR. The thing fits just right on any chair (we put it on the big computer chair we have in the computer room.

And I'm worried about kmeb and fanfair too.

I hope everybody is allright!!!

Take care, Melody

Mel, what is the weather like in New York? It was sunny and a stinking 78 degrees here today! I hate to sound ungrateful, but.....what do you wear in December when it is this warm? I had to go rummaging around to find some short sleeved stuff. Then I read about the poor people and the ice storms, so I feel bad complaining.

Hi Dakota:

Well, the weather doesn't know what it wants to do. When you get up in the a.m. it's freezing, then in the afternoon, the sun comes out, and it's so damp your knees drive you crazy (that happens to me every day). Then in the evening it gets really cold again. It's been raining on and off tonight. Very very damp.

We had a snow last week but it was nothing.

I wish it would either stay warm or stay cold but that's not happening. God I wished I lived in the tropics. My joints would LOVE it!!!

Mel

I was wondering how fainfare was and how Mayo was? I love Ca weather and it has been much better for my legs but I think I have allergies here. I may be wrong but I'm wondering if my eye infection now since it is in both eyes is just a bad allergy? I have been to 3 eye docs though.
Melody in NY this time a year you never know what the weather will be like. It was similar in MI and that is hard cause your body never adjusts.

Hi! I'm sorry to have been away so long, but I just haven't been well enough to be on the computer at home. Sioux Falls didn't get any ice, and we left Rochester Saturday morning so that we managed to not run into any snowstorm until we were about a half hour from home.

So it's not the weather but the horrific fatigue that has kept me away. Slept 14 of the first 24 hours I was home, and haven't been able to get away with less than 11 hours of rest per day since then. And my pain level is high enough to keep me on the verge of tears, which doesn't help.

I will try to get back here and give some more detail about what went on Friday. But I will say I won't have many answers until my final appointment, which is January 3rd, but I'm hoping to move it to the 2nd.

Oof, can't think anymore, need to get back to bed.

fanfaire
:cool:

Fanfair
 

So happy to see you got thru the testing - and catch up when you can - you need to rest up for the holidays and listen your body! Hope you get your strength back soon :)

I am sorry I have been off the forum so am clueless. Fainfare did you go to Mayo? In any regards I am sorry for your fatigue and travel can make that last for a long time with pain issues. I hope you get some answers soon. Many thoughts