I met with my new neuromuscular neurologist yesterday. This is the type of doctor who manages people with my condition (small fiber polyneuropathy).
For those of you who have been following our story, my nervous system was "attacked" in 2013 and by 2014, I was debilitated for 6 months with excruciating nerve pain, muscles spasms, and severe dysautonomia. With in this time period, my daughters (now 6 and 13) were telling me that they were having shooting pains, numbness, tingling, dizziness, etc. By 2015 we all started getting a reaction to the sun that caused vasospasms under the skin of our legs that is diagnosed as a type of levido reticularis and is indicative of autonomic dysfuntion.
That is the long story short.

The geneticists and rheumatologists put us in the heritable genetic connective tissue spectrum of EDS, with possible autoimmune activity.
Yesterday it was officially told to me that it is EDS type 3 (hEDS), and definite autoimmune process at work on top of it. It has been narrowed down now, and our case is no longer considered idiopathic. As far as the trigger that caused the autoimmunity (we were pretty ok before 2013), we might never know, or know how to fix it. I must admit that I am sad, but still won't lose hope that our neurological symptoms can heal- although I might be delusional because it's been over 3 years now. They do not want to treat with immunosuppressants or anything that can quiet this down, because they want to watch and wait.

Thanks for the update Healthgirl. I'm sorry that you don't really have a treatment plan at this point, but at least you have a better idea of what it is that your up against.

Wishing you the best for some healing, and improvement of your symptoms.

Hi Healthgirl

Thanks for the update. It's encouraging to know that someone with these confusing array of symptoms is able to get an answer - it's been your persistence and own diligent research that has got you to this point of finally having a diagnosis. Although you may not have a treatment plan yet, having followed your story, I know you have the strength to continue searching for the best course for yourself and your family.

All the best for what lies ahead.

I have to say I am frustrated with the medical establishment in our experience. Throughout these past 3 years of seeing doctors and doing my own research, setting up appointments with the doctors necessary to to see based on information I gathered, going for different opinions, happening to come across a very select few doctors who were even interested ( I am grateful for their help), being fortunate enough not to need referrals with my insurance which has allowed me this freedom, not sinking into misery and depression..... it was I who had to figure this all out from the beginning. I knew from the beginning that we obviously had a genetic predisposition to some triggering exposure and now there is just a name for it (collagen disorder) which is an official diagnosis for one of the problems, and a vague autoimmune manifestation that they can't name.

The new neurologist had the whole package put together in the database of all the doctors that it took me 3 years of gathering opinions, forwarding all reports, requesting testing, and leading the horses to water.
This doctor in (her defense), was quick, sharp enough, and prepared with my case file for which I was grateful and impressed, but she is the horse that was brought to the water and who drank.

I don't mean to be obnoxious, but I can't help feeling so disappointed that it was I who had to figure this out and navigate through the dysfunctional medical system to get a partial diagnosis as to why our nerves are sick, and still not have a solution. It makes me so upset to think of the people all over the world who are going through this, with having to rely on doctors for referrals, or not having the ability to research medical literature, in general how devastating neurological diseases are, and the lack of knowledge even by most neurologists on these types of conditions when so much of it is basic dysfunction of the peripheral nervous system- so the complaints and symptoms SHOULD be understood, yet people are misdiagnosed, give up hope, are put on meds they shouldn't be on, or not given meds that are needed. I won't keep going on, and after saying all of this- and it's vented, I am okay, happy enough, thankful for all that I have, and be glad that I am done going for opinions and found my set doctors for each condition that comes along with this.

Hi Healthgirl, your update is very similar to mine. I too won't feel particularly joyous if EDS is confirmed in me too. I wanted to say that I understand entirely how frustrating it is having to research everything and push them towards diagnosis. I had to do this myself, I had to research when the burning started and I had to suggest to a neuro that it may be sfn and the ncv tests he had conducted would not confirm this. So I then had to pursue the skin biopsy. And it goes on basically.
I too feel that I have only got so far as I am able to research and enquire and understand things so that I can then advocate for myself. This coupled with private insurance has only got me as far diagnosis wise as I am. Another person without that resource or with the ability to navigate research and join groups like this would be living in even greater terror. I had no idea how absolute little even neurologists know about the peripheral nervous system. It's infuriating, exasperating and frightening.
I really hope something may be offered to help manage any autoimmune manifestations. This watch and wait nonsense helps no one.

It's seems strange to say, but congratulations on accomplishing what all the highly trained medical people you sought help from couldn't...or wouldn't. It's a testament to your strength and your intelligence to have accomplished what you did. And I am right there with you with your disgust with the medical establishment. I keep hoping I might encounter that one doctor who will dig his/her heels in and see my condition as a great puzzle to be worked on, as it seems yours did when fed the data you had collected.

I assume you've found the EDS support forum which looks active. I hope it's as helpful to you as this forum is.

janie

Here is a wonderful book for people reading here, about why doctors misdiagnose patients or just make mistakes:

Every Patient Tells a Story: Medical Mysteries and the Art of Diagnosis: Lisa Sanders: 97876792247: Amazon.com: Books

I found it a week ago on Overdrive/Libby which is a free reading app that connects to libraries.( I often read at night before bed.)

I am 2/3 thru it, and it is a wonderful read (but somewhat disturbing on some levels). And I do hope Dr. Sanders gives some solutions to the problems she brings up in the book so far.

Thanks, I guess our treatment plan is watching the kids, getting bloods checked, and using doctors for each separate condition... gastro, allergist, rheumatologist, neurologist, dermatoligist . Pretty much all the same as we were doing, just now with a name for one of the conditions and watching the autoimmunity. She said "watching for the autoimmunity to present itself more clearly", but I maintain hope that it goes into remission so we can just have one disorder

I'm glad to hear that at least you are getting some information on what's going on with you and your family.

I have SFN but never saw a neuromuscular neurologist. I probably would have been better off if I had

I kinda hate the fact that they want to 'watch and wait'.

Please keep us updated.

Debi from Georgia

to be honest with you, once you already have the diagnosis of sfn, all they do is prescribe the same meds that any run of the mill neurologist offers. This is the order the neuromuscular doctors go with:
nortriptylene, then gabapentin, then lyrica, then cymbalta, then tramadol, possible effexor, maybe flexeril or zanaflex, if relief isn't achieved they will refer you to pain management. Thats it. For autonomic symptoms they will offer midodrine to bring up bp, or fludrocortisone, possibly mestinon.

They check for known causes of PN and then label it idiopathic pretty quickly. They are good at diagnosing, but not at finding a cause and often refer right away to rheumatology. They know about what sfn does to a person better than a general neurologist, but can't do much more than that.

The reason this particular doctor had a more solid picture to present was because of the 3 years of history, files I had forwarded, geneticist, and rheumatology notes- so all she had to do was read through everything and spell it out (which I give her credit for because most doctors just glance at the clipboard before they walk into the room and with this condition that is almost never going to amount to a quality assessment)

So if you have any questions about neurologists, I'd be glad to help. Between the team at Columbia when I was in the hospital and the 7 I have had over the past 3 years, I might have a tidbit or two