Hello everyone. Hoping you all had a nice holiday

Gosh it's been a while since I've posted about my condition and I don't even know where to start so I will just ramble on where my memory takes me.

Brief synopsis: I started with autonomic symptoms (heart palps, racing, seeing flashes of light, orthostatic intolerance, temp regulation issues, dizziness, etc. in fall of 2013 and noticed my skin thinning all over my body and my muscles started losing tone and wouldn't recover after working out. My left foot would go numb and tingly from being in certain positions and I thought it was just part of getting older and having bad SI joints. Thought it was all just a simple hormone imbalance and that it would adjust. My hands and feet started going numb in temps below 66 degrees and my arms from the shoulders to elbows to hands started getting excruciating pulses of shooting nerve pain, and that's when I started to know something probably wasn't right. In Sept 2014 I woke up and couldn't move my neck due to severe spasms of my traps. The pain was terrible. Wound up in the ER 3 times misdiagnosed all over the place. I won't bore anyone through all that. In the next two months the neuropathy spread through out my entire body and I was unable to drive and needed help for my housework. I was like this for 6 months. Could barely eat, sleep, was losing weight, and was in disgusting nerve pain all over with extreme autonomic symptoms. Slowly I became able to function and stabilize to where I am now. Now, it is a "new normal". I've learned to take care of my symptoms, know my limitations, and also have had some improvements. My final diagnoses was small fiber poly neuropathy, autonomic dysfunction and to keep watching for motor involvement. EMG showed compression at left ulnar and I have herniated cervical c5-6-7 and lumbar discs as well. The herniations are not considered to be the cause of the severity of my nerve damage or symptoms.

As some of you know, in the same time frame as my illness developed, my children started complaining of numbness, tingling, and describing autonomic symptoms. I thought they were over empathizing and that it was all too coincidental, but some of the things they were explaining were private things that they couldn't have known about that were happening to me. Urinary stuff, burning, and so on. They checked out ok at the doctor, but then so do I visually, so there was nothing to go on. Then in July of 2015, with in 2-3 weeks of each other, we developed a livedo reticularis type of vasospasm reaction when every we went out into the sun. Our legs looked like purple spotted leopards. Nothing like this every happened to me as a child or any of my kids. I took photos and now there isn't a doctor who can dispute that something happened or is happening. It feels everyday that this is a science fiction movie.
Two of them have high speckled ANA, as do I. There is no point in getting them biopsied, they have all the symptoms of sfn, thankfully not as severely as I. It is speculated to be immune mediated and obviously our genetics play a role here.

My little one willingly gets poked and prodded when needed for blood work to try to solve this mystery. So far she comes up with speckled ANA, anti histone antibodies, and protein losing enteropathy ( antitrypsin ), and high ige allergies. I found a rheumatoligst who mentioned a program for genetic testing and due to the photos, autoimmune blood work, biopsy results, I got in.

The results are that I don't have one of the known progressive genetic causes of neuropathy. Also found out I don't have the worst cancer genes that they know of so far, so that was a nice surprise considering how much cancer is on my mothers side. I was examined by the geneticist and was told that I have joint hyper mobility syndrome which runs in families and is in the Ehlers Danlos syndrome spectrum. It causes joint instability and can come with autonomic problems. This really explains a whole lot, but doesn't explain the severity of my small fiber nerve damage and why our symptoms were triggered at the same time. I finally found a rheumatologist who seems smart and wants to figure this out. They all agree that we must have been exposed to something that flipped on this switch.

As a child, is is clear that I have always had this joint hyper mobility and instability, mild orthostatic hypotension, but was pretty normal and felt ok, as were my kids before all this happened.

So with the ANA, anti smooth muscle antibodies, dry eye stain test, borderline sjogrens lip biopsy diagnosis, and a few other weird blood work results, this new rheumatologist is going to make a call on if she thinks this "autoimmune thing" should be treated or try to figure out if the damage is done.

So as you see, I have some answers. We have a name for our underlying syndrome, and it looks like we have been spurred into some type of autoimmune condition on top of it. Also since we all have allergies as part of all this it looks like mast cell are involved. It makes a little more sense now. I do feel that we are back to square one in a way, not knowing the cause. We might never know and really all I can do is remain hopeful that healing is possible.

Hi Healthgirl. I'm sorry you still feel you are at square one. At least you know you don't have a genetic neuropathy so if autoimmune there should be some sort of treatment? My sister has been diagnosed with sfn too. I think proff thinks it is autoimmune as has recommended ivig for her. I'm going to get my neurologist to read her diagnosis letter when he returns from leave. We don't have abnormal ANA results. The weird thing is ours started at the same time. I mean both in December 2012. I am hoping to be referred to another professor who deals with genetic neuropathies so hope to get some answers .Are you able to get a trial of ivig?

no trial of IVIG for me. Were you and your sister living together before or during the onset of symptoms? Hopefully they can run your genome soon. It took so long for my results to come back.

Hi Healthgirl. My sister spent alot of time at mine but didn't live here. So sorry if this is a silly question but if they run my genome this will rule out any genetic neuropathy? There are alot that they probably haven't even identified yet so would this be 100% that not genetic. I have held off so far with the ivig trial as symptoms are not bad enough for treatment yet.probably will have to wait 6 months to see this guy and then another to get results 😔

All they can do is rule out the ones that they know of so far.

As my brilliant Immunologist says: "we use the tests we have, not the tests we need."

While there are some treatments for autoimmune conditions, many of them are just suppression of the immune system as a whole (chemotherapy) and not cures. They are, however, helpful for symptoms.

I have wide ranging PN and small fiber neuropathy, all traced back to my Immune Disorder. My immune system attacks my organs/systems, including my nerves.

The key here is that at this point I am NOT looking for a definitive diagnosis or a 'cure'. I am looking to alleviate my most difficult symptoms (pain, burning, stinging, and itching skin).

Keep posting and letting us know how you are doing.

Hugs, ElaineD

Clearly, the presentation of your neuropathy was autoimmune with how rapidly it spread all over your body and with trunk/face burning etc. But does the rheumy mean "autoimmune thing" in the sense of a disease that they are familiar with and can treat? What a frustrating pickle.

Healthgirl and Elaine, you both have my sympathy.

Elaine, one thing that you wrote struck me "we use the tests we have, not the tests we need.".

I offer this suggestion very diffidently.

One of the big advances in molecular bioscience over the last decade has been the development of "knowledge-free" approaches. What this means is that rather than making assumptions about what is happening (they might or might not be right), we can look at "everything at once". An example of this is that it is now possible to see which genes are up- or down-regulated in animal models (using the whole animal genome) under given physiological circumstances, without making any assumptions about which genes "should" show expression changes.

This could be done in the context of unknown auto-immune disease though it would depend on high-throughput/robotic instruments, which are generally available.

It would involve making a protein expression library of all of the ~ 20000 proteins in the human genome and then screening it with a sample of circulating antibodies from a patient. This would show which human proteins are recognised by those antibodies without making any assumptions about which ones "should" be.

There would be technical problems to solve and, as ever, funding would be a challenge.

Elaine, maybe run this past your husband and the immunologists in your care team - they or their colleagues might be interested in giving it a try(?).

As i say, just a thought.

Thanks Elaine,
I guess what I'm trying to determine is if the damage is done, or progressive.... how to manage that vs if this is indeed an ongoing autoimmune process that might do well to be knocked down a bit and treated. There are some interesting stories of people with neuropathies that were a once time autoimmune flare that when caught early were able to be put into remission with immunosuppression.