Diagnosed with Myasthenia Gravis Jan 2021, Thymectomy Feb 2021 and LEMS Dec 2021

[Ashley]

Hey @drpetrie

Thank you for your introduction! I’m sorry you are no longer able to work, I’m sure that has been stressful for you.

It’s awesome that you were able to self diagnose! Way to advocate for yourself, I’m sorry you had to go through all of that. Did the thymectomy help at all?

I’m glad to hear you have had success with IVIG. Price and I receive IVIG as well, but we both receive it every 4 weeks instead of weekly. I wonder if this might be an option for you, what dose do you receive weekly?

[Price Wooldridge]

@drpetrie we appreciate hearing your journey. Good to hear you have serial follow up CTs with the nodule. Most are found to be benign, but need monitoring and biopsy if they become large enough. I’ve had numbers of nodules and a large cavity lesion in my RUL. Fortunately, everything was benign and all the nodules stabilized before becoming large enough to biopsy. Good luck.

[Paul Kohlhoff]

Hi @dpetrie

It seems I’m on a similar journey as yours.   After a few years and 3 Neurologist I was diagnosed with LEMS in October of 2020 based on the presence of the anti-body (although at low end) and the EMG results.  Although, the Dr didn’t identify the neuromuscular junction issue until a second EMG after the anti-body was identified and described that part of the EMG as “tricky” (not really a confidence booster.)    In parrel to the classic LEMS symptoms of muscle, vision, swallowing, shoulder issues I was also diagnosed with a paralyzed right diaphragm and oxygen levels and pulmonary function results that were worse than a hemidiaphragm paralysis would produce and require supplemental oxygen.

Through the process, my Neurologist didn’t consider the respiratory issues to be a neurological concern and wouldn’t communicate with my Pulmonologist (even though they are in the same hospital network).  After a referral to Mayo Clinic, even though the blood work indicates the VGCC anti-body is still present at the same level, the Mayo doctors believe it is actually Mysasthenia Gravis based mainly on the respiratory issues and currently deciding on a treatment plan.

I’m interested in the possibility that both LEMS and MG may both be present.   It’s a new path for me and the first conversation with the Neurologist at Mayo indicated she thought the LEMS anti-body was a false positive both times.   They did blood work for 3 of the 5 MG anti-bodies and non were present and waiting results for the other 2 and a genetics test.

Sorry, for the long history but I’m wondering how many others have had similar challenges with differentiating LEMS and MG.

Paul

 

[Price Wooldridge]

@paulk Hi Paul! I believe diaphragm muscle involvement can be LEMS related. I just recently asked this of my pulmonologist, and he agreed. He told me there is a specific test in Pulmonary Functions Tests that can indicate ‘possible’ diaphragm weakness. This is worth a followup.

I have read at least one paper where it was determined a patient had both LEMS ane MG. I’ve heard references to this elsewhere too. If so, it would seem very rare but possible. There is certainly some misdiagnosis between MG and LEMS because they are so similar.

[Y Petrie]

Published literature shows that LEMS and MG can co-exist.  I would be surprised if many docs actually get this.  I think an EMG in someone who has both would be very inconclusive or may even be normal!  Sometimes I think docs rely too much on blood or other tests forgetting the SYMPTOMS and the entire clinical picture.   I had a visit with Dr. Kaminski at GW in Washington DC, who has pretty much written the book on MG — he is the one that affirmed what I had read in the literature that it is rare but can co-exist.

I also think many do not realize that autoimmune conditions come in pairs, twins, triplicates and more.  For instance, I have had an autoimmune condition called Pernicious Anemia since the birth of my 30-year-old daughter.  I had very mild COVID 2 years ago and all hell broke loose.  I have antibodies to it seems everything – including Rheumatoid Arthritis, SLE, Antiphospholipid Syndrome, Autoimmune Dysautonomia, Sjogren’s and LEMS.  Ironically enough everything did not include the antibodies for MG, but the symptoms were so clear my neurologist said it couldn’t be anything else.  I had symptoms of SLE and RA, but IVIG cleared those up.  My Sjogren’s symtoms, which overlap with LEMS symptoms stick around.

Some doctors discard “low level antibodies” because they just can’t believe it causes symptoms.  Sometimes low-level antibodies are not enough to cause disease, they may just be the immune system having a “bad day” – in this case there would be little or no persistent symptoms.  Or research has shown that they may be a precursor of the disease showing up in up to 1-10 years.  Our immune system fluctuates from day to day, it has to – so some days we may have high levels of antibodies, some days low, and some days none – that doesn’t mean the disease is not there, it just means the blood tests don’t always match the symptoms.  This can also be true of EMG testing based on good or bad day.  If it is a good day the EMG could be normal – which is why my neurologist wants me off Pyridostigmine and Firdapse to do another EMG.  UGGG…

My EMGs have been inconclusive, but I’m not surprised because I have so many health issues — to include Ehlers Danlos (and a Mast Cell Disorder) which caused high cerebrospinal fluid in my brain, brain stem damage, Sept 2021 removal of part of my skull and fusion of the skull to first two vertebrae.  IVIG cleared up all my swallowing issue but swallowing pills – I think that was damage to nerves from the surgery.  To make a long story short – some of us have complex overlays and I wish doctors didn’t always try to rule out or in the condition they specialize in because they can only deal with one disease at a time.  Patient health conditions are becoming so much more complex, especially after COVID.

LEMS affects more than just the junctions between nerves and muscles – which is MG.  LEMS affects this junction plus autonomic function – i.e. the nerves between nerves and organs involved in daily functions (autonomic) that we don’t have to think about.  So it affects the autonomic nerves that tell us to breath, urinate, digest, make saliva, make tears, control blood pressure, control pain, control heart rate and the list goes on…

I would, as a doc myself, only think the LEMS antibodies a “false positive” or a precursor if there were NO SYMPTOMS to match it.  I don’t get that you have no symptoms, as then you wouldn’t be visiting all these provider.

Ultimately, I showed one of my docs the information, including my positive LEMS antibodies, and they prescribed me FIRDAPSE, which drastically improved my symptoms.   Had I had NO DIAGNOSIS of an autoimmune condition involving acetylcholine  (ie LEMS or MG or autoimmune dysautonomia), the side effects from FIRDAPSE would be awful – such as a seizure.  I went a little too high one day while titrating and felt awful.   One of my docs feels the positive response to FIRDAPSE is diagnostic in itself.

From a diagnostic perspective I would not expect a systemic autoimmune condition to cause nerve paralysis to only one side of the diaphragm.   It would cause nerve issues on both sides, although one may be worse than the other and I would expect it to fluctuate from day-to-day, not complete unremitting paralysis.   Consider looking for another cause of right-sided paralysis to the diaphragm.

Hope this is helpful.  Autoimmune conditions and what causes them has been a passion of mine for many years.

 

 

 

 

[Price Wooldridge]

@drpetrie Thanks for this great take on getting a diagnosis. I’ve heard so many, many stories. Some get lucky, but it’s a long road for some of us.

I’ve read at least a couple of papers on MG and LEMS diagnosed together, though it seems to be very rare.

I also think, once diagnosed, many of us come to realize these autoimmune disorders like to run in packs. I’ve read countless accounts of multiple autoimmune problems reported by patients. As far as I know, my first autoimmune disorder appeared as Dermatitus Herpetaformis (DH) a rare autoimmune disorder of the skin. It just appeared out of nowhere, causing an inflamed rash on my hands, waist, knees, and buttocks. Then a few years later, LEMS.

And then there are the autonomic issues that were appearing for years, unexplained tachycardia, blood pressure regulation problems….and the list goes one.

Thanks for the insight into your experiences.