So Here’S My Success Story....

[Natops]

Success being defined as diagnosing my rare disease. I’m going to make a long story short:

For a year and half I suffered from chronic bilateral leg pain/stiffness/weakness with fatigue/dizziness and tachycardia. I saw over a dozen doctors (even some from NIH and John Hopkins) who conducted a significant work up (countless blood work drawn, EMGs x 2, Spinal tap, MRIs from head to toe, leg skin biopsy for peripheral neuropathy, CT scan of abdomen and pelvis, X-ray (chest), ultrasound of the abdomen and an endoscopy) on me. They found nothing wrong. NOTHING! Then in May 2012 my tachycardia and dizziness left me bed ridden. My feet were turning blue. I sought the care of a cardiologist who believed I was suffering from POTS. Flusrocortisone, Midorine, compression stocks and lots of fluids got me back on me feet to just barely get by.

So it was this website DINET that I saw a member post info on a doctor in her area that specializes in POTS. He was a neurologist. Well it was only 3-4 hours away from me so I made an appointment with him. It was probably one of the smartest decisions I have ever made and it possible will save my life. First off – he clinically diagnosed me with POTS in his autonomic lab. I failed the tilt table with 30+ bmp and it was discovered through the QSART that I have small fiber neuropathy. Most important – the cause. What no doctor even ran. The Mayo clinic’s paraneoplatic panel. It was discovered that I was positive for Calcium Channel N-type AB. 10x higher than normal range. Finally there was an answer.

Calcium Channel N-type AB. Mostly associated with a disease called Lambert-Eaton Syndrome (LEMS). LEMS http://www.lems.com/overview

- is a disorder of the neuromuscular junction. The neuromuscular junction is the site where nerve cells meet muscle cells and help activate the muscles. LEMS occurs when antibodies interfere with impulses between the nerve and muscle cells. It may be associated with other autoimmune diseases, or more commonly coincide with or precede a diagnosis of cancer such as small cell lung cancer. LEMS is an autoimmune disorder. This means that antibodies similar to those which normally help to fight infections have started to attack the body. In LEMS, these antibodies attack the ends of the nerves at muscles and stop them from releasing acetylcholine, a messenger that tells muscles what to do. About half of people have a cancer, the majority of whom have a "small cell" lung cancer (SCLC), which mainly happens in people who smoke. In this type of LEMS the antibodies start by attacking the cancer and then get "confused" and attack the nerves as well. This type usually starts when patients are over 50 years old. This form of LEMS is referred to as paraneoplastic LEMS

In other people, there is no tumour and this type of LEMS usually starts after the age of 50 but it can start in children under the age of 10. Doctors are not sure why the antibodies start to attack the nerves in this type of LEMS. This form of LEMS is referred to as non-paraneoplastic LEMS

So I was screened for cancer (PET/CT/X-ray/and MRI) with negative results. That’s not to say I won’t develop it later. I have to be screen every 6 months for the next few years. Right now we are approaching this as non-paraneoplatic LEMS. I just finished my first treatment of 5 days straight of IVIG. Initial findings… the pain/weakness in my legs has reduced by about 30-50%. I haven’t yet discussed with my doctors if and when I should stop taking my Flusrocortisone and Midorine concerning my POTS. Hopefully it’s not cancer. I probably will never be that healthy person that I use to be (running/athletic). I just want to be able to continue to work and take care of my family.

I share my story in hopes to help those of you who are discouraged with not getting any answers for your medical problem. Many doctors just sent me on my way with nothing more than a “good luck”. One doctor actually told me he would not run a certain lab or try to find out what’s wrong if he knew he was unable to treat it. That blew my mind. I really fell into deep depression when one doctor wanted to just treat me with anti-depression medicine and “bio-feedback”. If your tests keep coming up negative…. Don’t give up. You have to find that right doctor and you have to do your own research. I do consider myself lucky. One thing leads to another. I am probably not at the end of uncovering my problems…. But at least I’m on the right track.

[diamondcut]

Thank you for telling your story. Im very happy for you, the relief must be imense and i am sure you have very mixed emotions when you think back to the dr's you have seen.

Two questions you maybe able to help with, if people on here (like me who is due to see an immunologist) Would they be able to run this blood pannel?

I also am talking to my Nuero at the end of the month about a SFN biopsy. Why do you think your biopsy came back negative and the sweat test positive? Is there a better one to have for SFN?

[Natops]

I believe the paraneoplastic panel is standard for Mayo Pots patients. Not sure who else in the country runs it. I’m sure someone on this site probably knows. As far as SFN not showing up on my tissue biopsy’s but it showed up on QSART... my doctor did explain to me how that was possible… what exactly he told me…I can’t remember exactly. Sorry. Again, perhaps someone on this site might have some insight.

[hippychic258]

I am happy for you that you have gotten some answers that is very encouraging!! What is the name of your Doctor?

[sue1234]

That is awesome that you found some answers!!! Did you have low or high blood pressure when standing?

Now I don't understand. I had the Mayo Paraneoplastic Autoimmunity Panel done a couple of months ago, and I don't even have the Calcium Channel N-Type AB listed in my results! When I went to look on the Mayo website for what is all in the panel, I am also missing the P/Q-Type Calcium AB and the Striational AB. It shows that these are ALL always run when doing the panel. I feel my doctor's office might have overlooked some results somewhere. I'll have to call Monday. BTW, I went specifically to this doctor to request this panel be done. I didn't want to go with POTS more years, and find out it was something never tested for. That is great that you are at this juncture!!

[sue1234]

From what I understand, any doctor can order the Mayo Paraneoplastic Panel, but after your local Labcorp or Quest draws for it, it automatically gets sent to the Mayo Labs in Minnesota to get run. It is a test specific to them.

[Natops]

Dr. Chemali. He is with Sentera Health out of Norfolk Va.

[Natops]

My blood pressure was/has always been on the low side. It was normally around 100/60. Sometimes when I felt really bad my BP was down to 80/40. Now that hydrate a lot and take meds...my BP will be around 107/70

[Elenapap11]

Your story really touched me.I am in a position where doctors have let me down as they are more keen on giving me anti-depressants or epilepsy treatment(though i don't have a confirmed epilepsy)I am thinking of visiting a doctor in the UK or go to Mayo Clinic in the U.S.

Natops i hope you find the end of the Dysautonomia tunnel very soon.Keep us posted with your progress,By the way,very interesting information about LEMS.I wonder if my doctors are aware of all that...probably not.

[leydengs]

Thank you for sharing your story! I'm so glad you kept pushing to find the right doctor and to get some answers and help. I think that is the key in this kind of disorder.

[Monstrosity]

its very encouraging to see posts like this, thank you!

[arizona girl]

Oh, natops, I'm so glad for you and your girls. Dr. Chemali has been mentioned here before, he sounds a lot like my neuro. Mine also ran the parenoplastic panel for small cell cancer. I'll have to see if they know each other. My doc runs both the skin biopsy and the qsart, and said there is a greater chance of catching sfn if you do both, as it can be patchy. He doesn't have a tilt table though, so that is great your doc had that too.

So how did your ivig go? Did they prepare you with hydration, meds and a slow infusion rate to ward of the ivig flu? What brand are they giving you? I'm on privigen. I've been doing ivig now for two years for common variable immune deficiency and sfn, we have now reduced me to 66 grams once a month. My wbc is down in the 8's after years of elevations, low grade fevers and infections. My autonomic function is much better too.

I know it's crazy to be so relieved to get a diagnosis for something like lems, but we are, it's validating and proves we were right and not mentally distraught. I think once you know what it is you can fight it and manage it. We can live with a lot conditions, as long as we manage them well. That's exactly what you will be able to do now for you and your beautiful family.

Please keep us posted on how it goes for you.

[Natops]

Thanks Everybody.

@Arizonagirl - They had me on Octagam. I handled it well till the last day which then I had diarrhea, nausiation, pain and stiffness in the neck and a pretty bad headache. The benadryl IV help calm all that down. I drank pletty of fluids. I think the benadryl and tylenol is a must. I'll try it again next month.