[Tulips]

I wrote to a neuromuscular doctor who tool out his time to speak to me over the phone about my situation. He explained so much to me and said at this point to look for genetic factors but it can get murky.

He said to look for sodium channel 1.7 gene and def see a movement disorder doctor. To look for startle syndrome with gene mutations.

He said if it's not a channelopathy the there are enzymes and protien and unfortunatly it's hard to figure out.

He told me believe me that we don't know everything yet and this area of study is so complicated. Anything can be faulty and send while body crazy.
He said when patients like you go to doctor and they can't figure this out they are frustrated as much as you are and believe it or not ever time upkeep going back they think who know she is back!!

I told him the big university doc I see won't refer me over to the movement disorder clinic and he said the problem with that is ego.
I mean he was so honest about how system works

He said if he refers u to his Collegue then they are get mad cause sine he couldn't figure it out they don't want to dumped with this case. Plus it's ego thing that the first big head of the department couldn't figure it out.

Plus he said in cases like yours head to toe and everything normal they think is all in the head so they have sort of given up!
He said I believe you but it's hard.
When these things don't show up it's hard and to even try to do gene testing it self is hard.

He gave me some names and test options to pursu.

He said thy look at brain, spine nerve and muscle and when all that is normal
Then it gets murky and patients end up suffering.
He said doctors do there best but they do run out of options.
He said this area of study is so vast that it could be anything from channelopathies to protien and enzyme and neurotransmitter problems.

So basically I am screwd!!!'

He said to keep pursing and at his point to look for genetic causes.
And don't waste money on repeating same things.

Good luck to all of us!

He said best bet is to go to a big university place ( which I have) and keep pressuring them cause private doc will not do research as he disentangle get paid for it. And patients like me waist time at and money.

Tulips
My ramblings!

[rose_thorn98]

Too bad you couldn't have this guy as your neuro. He sounds like a very knowledgable dr. Not to mention compassionate. I hope Mrs. D and Glenn can shed some light on the type of testing he suggested to you.

[rose_thorn98]

Originally Posted by rose_thorn98

Too bad you couldn't have this guy as your neuro. He sounds like a very knowledgable dr. Not to mention compassionate. I hope Mrs. D and Glenn can shed some light on the type of testing he suggested to you.

Here is a link about sodium channel gene involvement with inherited erythromelalgia. I have erythromelalgia, but not the inherited kind, which ususally has onset before age 20. My PCP thinks that the erythromelalgia is causing my all over burning, but I'm not too sure, will be asking the new neuro I'm seeing tomorrow.

http://www.ncbi.nlm.nih.gov/pubmed/18060017

[dahlek]

Going to different docs? Can be a political 'mine field' in terms of professional egos and reputations. PUT that aside? If one doc asks you about another? Say SIMPLY: I'd like a second, different, fresh opinion, and or: 'We didn't really communicate/connect so well'. LEAVE it at that...therefore YOU have no minefields to navigate!
Say I truly WANT to know what's going on, and to maintain some quality of life better than what I have NOW!
Get the doc to work for YOU, not you for him!
Being honestly blunt here? Or docs will get together at their 'gatherings' and say 'OH, THAT ONE... Drug seeking, or real?' Get my drift? And, at such affairs they can be worse than stereotypes in the gossip and vague generalities categories...to our detrement! Just keep asking, and asking better and more astute questions from all you've learned here...on up the medical evaluation food chain! You mite actually hit GOLD! I've done it a couple of times, and am soo relieved that I did get lucky! Just don't give UP!
HOPE AND GOOD THINGS SOON! - j 's

[rose_thorn98]

Originally Posted by dahlek

Going to different docs? Can be a political 'mine field' in terms of professional egos and reputations. PUT that aside? If one doc asks you about another? Say SIMPLY: I'd like a second, different, fresh opinion, and or: 'We didn't really communicate/connect so well'. LEAVE it at that...therefore YOU have no minefields to navigate!
Say I truly WANT to know what's going on, and to maintain some quality of life better than what I have NOW!
Get the doc to work for YOU, not you for him!
Being honestly blunt here? Or docs will get together at their 'gatherings' and say 'OH, THAT ONE... Drug seeking, or real?' Get my drift? And, at such affairs they can be worse than stereotypes in the gossip and vague generalities categories...to our detrement! Just keep asking, and asking better and more astute questions from all you've learned here...on up the medical evaluation food chain! You mite actually hit GOLD! I've done it a couple of times, and am soo relieved that I did get lucky! Just don't give UP!
HOPE AND GOOD THINGS SOON! - j 's

Love the way you suggest to talk to new doctors. I'll be using that at my new appointment tomorrrow! Good advise. I work in dentistry and I know how easy they all think we are drug seekers and how quickly they all think we are nuts...because I see dentists doing it too. Its such a game to get them to take us seriously.....isn't that sad.

[dahlek]

I said 'we don't communicate well' to the second neuro I was getting an opinion from. I outlined what was working and what was not [I was NOT internet wise at the time? Just followed instinct?] And got someone who said: I think we can help you. I cried in relief all the way home! Who wouldn't?
Every single hospital I've been to since...for surgery or emergencies? If I am admitted they are always paging FOR that 'fired doc'!
Believe me, docs are worse than the stereotypical church lady gossips at times? THEY KNOW what you MEAN when you aren't communicating well! And they know WHO you mean it about and WHY you mean it!
What inspires me in any doc? IS CURIOUSITY! That I mite NOT fit into all boxes for disease/condition A vs. B! First fired neuro didn't show any curiousity at all! Just did the most basic and minimal tests in the most primitive of settings. Another clue? Is how the staff, from receptionists to nurses and techs treat you and such... If they're happy? They're professional and efficient. If not? Something's wrong in that docs' offices.
No, we aren't drug seekers! We just want some relief now and then and help to keep this all from getting WORSE! That part, [read Cyclops' posts] is a real and true fear of all of us!
The stress your fears put on you must be recognized:

http://www.google.com/search?q=fight...rlz=1I7GGIK_en
Stages of panic and how it works? While this site is targeting kids, it's short and sweet for a complex subject!
http://faculty.washington.edu/chudler/auto.html
We DO seem to be in stages of "red alert!" when having some/many neuropathy problems. Trick is? Recognise them, then deal with them!
Maybe ANOTHER opinion might strike a chord with you? Also about the doc making the opinion. I VIEW second opinions as ME Interviewing the DOC. Three or five docs, usually are OK? But when you get to seven or fifteen? Then you could be pigeonholed other ways. So pick wisely and well.
Keep faith and hope! !'S - J