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How Long To Get Your LEMS Diagnosis?
The other day, in a podcast planning session, we were discussing our LEMS stories and getting that all-important LEMS diagnosis. In my case, it took about 8 years! That sounds crazy, right?
It’s not crazy. It’s what happened to me.In 2009 I suddenly developed severe hip weakness and, as a result, great difficulty walking. I spent 6 days in the hospital, getting numerous tests, a spinal tap, and a muscle biopsy. I was seen during this time by multiple doctors, and medical school teachers, and their students. Not one person ever spoke of LEMS or gave me that diagnosis. The all-important VGCC antibodies test was not done. An EMG was. How does this happen! I have no explanation. How did I get released home with physical therapy for 8 weeks, a wheelchair and walker, but no diagnosis?
And why did I settle? There’s just no explanation I have for my failure to be my own best advocate. Or why teams of doctors didn’t get a diagnosis, given the profoundness of my symptoms.
What’s your diagnosis story? Did you get yours quickly? I’d like to know.
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29 Replies
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It took approx. 5 years to get my LEMS diagnosis. I was diagnosed with spinal stenosis in 2010 and working with physical therapy for that until a couple years later at which time I decided that wasn’t working. After going through 3 neurologists and 3 years after that, I found the 4th neurologist who gave me the LEMS diagnosis first visit.
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@dordem 5 years is a long time to diagnose, but seems to happen frequently due to the rarity of LEMS and the lack of knowledge in the medical community.
@ashleygregory757 and I just guested on a podcast to air soon, and we discussed this very thing giving our LEMS diagnosis story. It took me 8 years, but Ashley was fortunate to get with a good neurologist and got hers much quicker. Often it seen to depend on where you are and getting a knowledgeable neuromuscular neurologist to figure it out.
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Hi everyone. I was misdiagnosed with lupus for almost 7 years. I had no joint pain , nothing that really indicated lupus except for a low antibody for lupus, on and off. All I had were neurological symptoms So I spent many years being treated with lupus medication without feeling better. I was told my doctor that my lupus was “stubborn “. Finally in March 2021 I saw a neurologist that diagnosed me with Lambert Eaton. A little too late as now my respiratory muscles are weak. My treatment consists of IVIG, plasma exchange once and steroids I had a terrible reaction to Rituxan. I can’t take the traditional LEMS meds because I also have potassium blocking antibodies. Any advice appreciated.
nwirolo
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@karyn1972 are you saying you cannot try pyridostigmine (Mestinon), or Firdapse? And have you tried either? Both are often in LEMS treatment plans and Firdapse is FDA approved for LEMS. Be sure you discuss with your neurologist and understand the side-effects of long term steroid use.
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Hello. Thank you for responding. Yea the neurologist told me that because I have potassium channel blocking antibodies as well as acetylcholine receptor blocking antibodies that this medications are not options for me . Very frustrating. I take steroids sparingly because of the risk of side effects. I also get IVIG for 2 days every 2 weeks but have not felt the benefits of it as of yet.
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@karyn1972 thanks for getting back. Which antibodies in your VGCC LEMS blood test came up positive? P/Q or N? If you don’t wish to share that’s fine too.
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I am positive for the VGCC P/Q antibodies as well as the others I had mentioned. I am curious as to whether or not others have this mixture of antibodies and they are able to take the Firdapse or Mestinon ?
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Can you be more specific about these “other” antibodies?
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I was incorrect. I have both N and P/Q antibodies along with voltage gated potassium channel antibodies , acetylcholine receptor ganglionic alpha 3 antibodies, glutamic acid decarboxylase 65 antibodies and the antibodies for early Sjogrens .
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@karyn1972 thanks for this updated profile of your antibodies. I’m checking on this.
As with all things LEMS and medical, we can’t offer medical advice and everyone’s situation is different, but I’ve asked Catalyst for comment on this general antibodies profile.
Regarding IVIG, please be patient for results. In my case, and that of other’s reports, th positive effects from immunoglobulin can take up to 6 months to be fully effective. I’ve started IVIG twice and that was the case for me both times. -
Thank you. Words can’t express how much I appreciate your input and time. I have become very frustrated over the past year and just want to start feeling a little bit better at least . What exactly is Catalyst??
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I’m sorry I should’ve said Catalyst Pharmaceuticals, the maker of Firdapse. We’re here to help.
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Thank you again !!
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@karyn1972 Hi Karyn! As Ashley mentioned in her previous response, none of us are aware of contraindications for Firdapse or other medications beyond what is listed in the literature.
A couple of notes, are you being seen by a neuromuscular neurologist? They specialize in disorders such as ours.
It never hurts to get a second opinion on your condition or treatment plan with another specialist, especially if you’re not doing as you’d like.
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I am seeing an autoimmune neurologist. I went to several neurologists before him. I was happy that I was finally given the correct diagnosis but I’m not so sure about the management. I will see a neuromuscular neurologist and see what they say. Thank you !! Any word from Catalyst ??
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@karyn1972 I know that getting a second opinion can be hard, but I hope you have access to a neuromuscular specialist to help you with a treatment plan and second opinion. LEMS is so rare, the knowledge base, even amongst neurologists, can vary greatly. Catalyst had nothing to add beyond this advice as well. Given the lack of treatment success you’re reporting I know you want and need the peace-of-mind that you’ve done your due diligence to be proactive and look after yourself. Keep us posted, please.
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Hi @karyn1972
I have a dual diagnosis of Lupus and LEMS. I also receive IVIG, but my treatments are every 4 weeks. Do you know the dosage of IVIG you receive? For LEMS, you should be getting “high dose IVIG” which is usually 1 gram of IVIG for every KG you weigh x2 (usually its two days in a row).
How long have you been getting IVIG? Like Price said, it usually takes about 6 months to feel full effects of treatments.
I have not heard of having potassium channel antibodies as a contraindication for Firdapse personally. The Firdapse website does not list that as a contraindication. Here’s what is listed:
“——————————-CONTRAINDICATIONS——————————
FIRDAPSE is contraindicated in patients with: A history of seizures (4)
Hypersensitivity to amifampridine or another aminopyridine (4)”
I would possibly get a second opinion or ask to do a trial of Firdapse to see if you can tolerate it.
Hope this helps!
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Hello Ashley. Yes I am getting high dose IVIG twice month, 2 days in a row. All of a sudden it makes me very itchy but that’s another issue. I started it in November. I am going to bring up Firdapse to my neuro again. Originally he told me that it wasn’t an option because my antibodies are like an “autoimmune potpourri “.
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@karyn1972
Do you get any pre-medications with your IVIG?
I think its definitely worth bringing up again! Having antibodies is not a contraindication for Firdapse, and you won’t know if it helps or not unless you can at least try it.
I have quite a potpourri of autoimmune conditions and antibodies and was on firdapse for some time with no issues
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Hi Ashley. Thank you for responding. I get Benadryl, Pepcid and Tylenol before IVIG and then dexamethasone IV afterwards. Would you mind sharing what antibodies you have ? I think it would be helpful to know.
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After reading about these lengthy diagnosis times, I feel fortunate that mine only took a year. I saw about nine different doctors, all of whom told me all my tests were normal. I insisted that not being able to walk was NOT normal. I was sent for physical therapy also. Finally, my primary doctor got me in to see a specialist for POTS, which I didn’t have. But this doctor took my situation as a challenge. It only took 3 visits for him to provide the LEMS diagnosis. Now I take Ruzurgi, and am having separation anxiety at the thought of changing medication!
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@anngailn You are lucky! Even if it did take 9 doctors.
Since you will be transitioning from Ruzurgi, I hope this goes well for you. Keep a positive attitude!
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It took me 15 years to receive a diagnosis. Even doctors at Johns Hopkins Hospital missed it. I was always considered “complicated” and was even told my symptoms were in my head and that I was malingering.
However, when I saw a specialist for Dysautonomia, he diagnosed LEMS.
I currently take Ruzurgi and get IVIG two consecutive days every 4 weeks, but am experiencing tightness and pressure in my chest during and after each infusion. Any suggestions?
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@wanda-king-grischkowsky Hi Wanda! 15 years, yikes, and I thought my 8 was a lot. 15 is definitely well beyond the mean time to diagnosis for LEMS.
It sounds like your IVIG schedule is relatively typical. I hope you are reporting these reactions during infusions to your infusion nurse and neurologist. I have also on occasion spoken with the infusion pharmacist. They are very knowledgeable too.
You should definitely report.
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I was fortunate to see a doctor who studied under Dr. Lambert at Mayo Clinic. So within 6 months I had my diagnosis. I started Mestinon right away. After bad reactions to immunosuppressant drugs I started IVIG a year after my first symptoms appeared.
.4 g /kg every 4-6 weeks. First treatment 3 days in a row. I now go 5/6 weeks between my infusions. I have had both Gammagard and Gamunex-C and noticed no difference. between the two. I am very thankful this is working so well for me.-
@bobbi-lynn-berry Roberta how interesting that you got your quick diagnosis from a neurologist with direct lineage to Dr. Lambert. We owe that guy a lot!
It’s good to hear your immunoglobulin infusions are working well for you too.
Me too!
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I was fortunate to be diagnosed within 4 months. Initially, I was seen by a Washington DC neurologist, who did an array of tests trying to determine a diagnosis. Before she could finalize the diagnosis, I was unable to swallow, and she referred me immediately to Johns Hopkins in Baltimore, where I was hospitalized and prescribed IVIG, Firdapse, and rehabilitation. I transferred my care back to a neurologist at George Washington University hospital, who added Mestinon and Cellcept. I continue to be followed locally by him because of his expertise.
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@lemsdiscussion Another LEMS patient with a quick diagnosis. That’s great, and it looks like you’re on a very comprehensive treatment plan. Bulbar issues, swallowing and speech issues are fairly common with LEMS. I occasionally have problems there.
Keep on with that good plan!
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24 hours to get a diagnosis in 2005. i was diagnosed with LEMS in Jackson, Miss. at the neurological office of Art Leis, Neurologist. The initial exam took about 8 hours and was then diagnosed positively with LEMS.
Treatment started immediately with meds supplied by a local compounding pharmacy.-
@dannylindsey 24 hours! You are very lucky. And you say 8 hours. That sounds like a long day. My antibodies blood test for LEMS sent to Mayo took well over a week to get results back.
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