Update
 

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. :grouphug:

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.

Thanks for the update :)
 

Hello again Healthgirl. I just seen your post. You are very kind to talk to me and try to help me after all that is going on in your life. I'm glad you know what is causing the nerves to go crazy. I don't understand why he wants to watch you and your girls. You are not guinea pigs. I hope and pray you all can get relief soon. Can you explain to me what EDS type 3 (hEDS) is? I'm not as schooled as munch as I'm sure I will be later. Thank you again for your caring reply to my post. God bless you all and keep you in his calming arms.

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 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.

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:winky:

Hello,
So EDS is a collagen disorder. The connective tissue is missing a link somewhere so its kind of incomplete. The joints are unstable which causes terrible strain and over work of the muscles and weak ligaments and those are both compromised as well. The joints can be hyper flexible, skin is soft. Dysautonomia is common with it (temp regulation, digestion, absorption, respiration, heart, basically everything your body is supposed to do automatically is haywire and random when it should work in sync with out a thought). I knew we had some sort of a genetic connective tissue disorder for a while, but I was still in denial until all of the evidence put together from this journey doesn't lie. I wish it could turn out to be a lie. Things could always be worse though and I'm thankful for each day. My children do well in school and have nice lives. We are everything we need and will stay positive for improvement from the neuropathy for me and for it not to progress in the kids.

You are an inspiration Healthgirl and you motivate me to keep pushing. It has been just about 3 years for me since the SFN started and I too am still idiopathic. I have seen the neuromuscular neurologist and the rheumatologist and just starting with the geneticist (only because I shared my father's history not because the question(s) were asked). I don't expect to find a cure but I would very much like to understand what the heck happened to set this horrible disease off. The list of meds you shared is dead on and how sad is that. It seems the doctors go to a "procedure manual" and follow instructions. We have to rely on the researchers who have a genuine interest in figuring out how things work. I applaud your persistence and your enthusiasm for life regardless of what it deals you. Your family is lucky to have you!

Thanks, and I am lucky to have access to medical literature and the ability to research to have been able to put some of the puzzle together. Before the internet it wouldn't have been possible. These groups are amazing. How frightening would this all be with out anyone anywhere to really understand?

Did your father have symptoms at the age you were when yours started?

Hi Healthgirl,
I’m glad that you finally got some answers and I’m sorry that you still can’t get a proper treatment.
I’m also very frustrated (to say the least) with the dysfunctional medical system, had to figure out my diagnosis by myself and struggled for many years to find doctors who will take me seriously and help me to get a treatment.
It is a huge relief to finally have some doctors that I can consult with, and treatments that help.
I’m doing as much as I can to help others with somewhat similar conditions in local support groups and to educate the doctors around me.
If you have autoimmune manifestation, are IVIG, Rituximab and other immunological treatments might be relevant?

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.

Healthgirl:
Having never heard of Collagen Disease, I looked it up and was surprised to find that the Fuch's Corneal Dystrophy that I have is also in the collagen disease category. It is an inherited condition that affects my vision and would ultimately cause blindness, but fortunately it is curable with partial cornea transplantation. I guess I'm also in a "wait and see" category (pun intended), with the doctors checking me annually to determine when I will need to have the surgery.

(I realize none of this has anything to do with your condition - just wanted to thank you for raising my awareness and helping me learn a bit more about one of my own conditions.)

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

Frustrated by doctors? Here's a book for you!
 

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.