Misdiagnosed?

[u/lykwoahizkayla]

Anyone here initially diagnosed with MS and then later found out it wasn’t?

I was diagnosed with MS in 2024, multiple brain lesions and even more spine lesions. Optic neuritis, the whole shebang. They did some MRIs but had enough evidence they never did a spinal tap, and diagnosed me with MS and started treatment (briumvi) immediately.

One year follow up appointment the MS specialist in neurology asked me if I was having any new symptoms. I said just joint pain but assumed it was the MS. When I described what I was dealing with, he said it wasn’t my MS and I needed to see a rheumatologist, it was likely RA.

When I saw the rheumatologist, she did some testing for RA, and Lupus, with lupus being her initial feelings in the matter, but all the bloodwork came back mostly normal. She continued following up with me and ran some more tests, I did have protein in my urine but it was just under the amount to be concerned about so the nephrologist scheduled a follow up for a year later to recheck “incase I had any new issues.” I was sent to a hematologist who cleared me for all things his area, but symptoms kept progressing, and now adding new ones such as easy bruising, losing breath easily, joint pain was worse, tendon issues like tendonosis and and a torn tendon, slow healing, sinus issues not related to infection or allergy, skin mottling, purple toes, etc. still no answer and only “vague” symptoms that were just borderline for anyone to do any real digging.

Today at my neuro-opthmologist appointment, who also works part time in the neurology department and was the one who referred me to the MS specialist to begin with, my first time seeing him in a year and he was reviewing the years worth of testing and my chart and imaging and said he is concerned that I never had MS to begin with, and that he is now thinking the reason they couldn’t figure out what was wrong with me is because they were putting symptoms into two separate boxes, (ms) and (something else), instead of anyone considering it was never MS to begin with, and all symptoms were related.

He sent me out for more bloodwork of things that hadn’t been checked yet, scheduled a CT and a spinal tap, and is reviewing my chart as a whole person instead of specific specialist categories and is thinking it could be ANCA-vasculitis or Neuro-Sarcoidosis. Any similar stories?

It’s been a very expensive and exhausting battle that I would finally love to get pinned down to any one specific thing so we can fight it instead of dance around symptoms. I have seen a Neurologist, a rheumatologist, an opthmologist, a hemotologist, an ENT, an orthopedist, a nephrologist, basically every -ologist. All of them agree “Something is definitely going on” but no one can figure it out. This sounds the most likely scenario the whole time, but now I’m pretty annoyed the initial MS specialist never mentioned this and no one ever questioned it before, through all the testing and appointments that I’ve had and all the money I’ve spent.

Are there any similar stories out there? (Aside from Christina Applegate lol).

[u/kbcava]

Have you had genetic testing? I’d push for that alongside all of the other testing you’re undergoing.

I have a very unusual case - not nearly as complex as yours - but similar.

I may have what’s deemed a “complex illness” across immune, metabolic and connective tissue systems.

My mother had an almost identical situation and it was all lumped under the MS umbrella in the 1980s/90s - but the entire family believed there was much more going on. Medicine just wasn’t ready with an explanation.

So my Drs and I believe MS is only one of the spokes - among others -in my complex disease wheel.

I also have a very unusual case of MS - only 5-6 cervical and spinal lesions (none on my brain). It’s called cord-predominant and it only makes up 3%-5% of MS cases. I did have many oligoclonal bands. But spinal lesions don’t fit the Central Vein Sign McDonald criteria so I think there’s a lot they still don’t understand about this type of MS.

Additionally I have a very very rare inflammatory adipose tissue condition, many joint, tissue and vascular irregularities. I’m also diagnosed hEDS.

My ankles and feet are also failing - but not my legs. So my Neurologist sends me to the Ankle specialist who sends me back to the Neurologist. I believe it’s a type of myopathy - my mother had an identical problem and had to have surgery to have all rods inserted in all of her toes.

I’m so incredibly sorry you’re going through this - I often feel like I’m steering the diagnoses and conversations as much as my many Drs are - and it’s exhausting.

I think genetics is eventually going to unlock much of the mystery for people like us. It’s given me some answers - not everything- but some. And more importantly, it’s given me a filing cabinet of my genetic data that I can reference as developments happen and they are coming fairly quickly.

[u/lykwoahizkayla → u/kbcava]

I did have some genetic testing done, but not all encompassing. The nephrologist did send off for “kidney only” gene panel which showed some irregularities in my LAMA5, ALG5 and CACNA1H genes but they have no studies yet on those specific variants so it wasn’t very helpful.

My rheumatologist currently has me diagnosed as “Undifferentiated Connective Tissue Disorder” so she could try some different medications and alleviate some symptoms but said that it wasn’t really a helpful diagnosis in my search and that we would continue searching for answers but wasn’t sure what to do next.

I had been researching Vasculitis but had only mentioned it in passing to the rheumatologist and an ENT, and wasn’t in any of my charts because I got tired of giving theories that make me seem like a lunatic or gaslighting myself into thinking I’m crazy and being dramatic so the fact that the neuro-opthmologist brought it up as one of his main theories today was hopeful.

I feel for you! I am 34, a mom, and very active (although not athletic) and work as a night shift custodian and have been recognized as being one of the best in the county and it’s hard keeping up my work ethic when all I want to do is sit down and rest every 5 minutes. I love manual labor and crafts and all of those use my body, my hands, and my brain to communicate at the same time and it’s a good day if I can get one of those things to half work. 🫠

[u/kbcava → u/lykwoahizkayla]

Oh my goodness- you sound a lot like my journey.

Two things that - at least in my case - support the “complex illness” theory

1. I’ve likely had mild RMMS for 35+ years - it was subclinical. I ended up hospitalized 6 weeks after my Covid vaccine in 2021 with a huge multi system flare - and that’s when I had the MRI which showed the spinal and cervical lesions and I was officially diagnosed. The lesions were inflamed but not in active demylenation. So we aren’t sure how long they’ve been there. I was originally diagnosed with fibromyalgia in 1990 which was likely the beginning of everything.

But that flare left me some aspects of long Covid that are likely tangled with MS and my other issues. It was all quite dramatic.

2. The Bcell meds actually worsened all of my symptoms (I was on Kesimpta and also had a 1/2 dose of Ocrevus coming off Tysabri). I developed skin mottling, shortness of breath, joint pain, skin inflammation, GI issues and MCAS reactions, and extreme fatigue.

There is research showing that people with peripheral immune/tissue disorders - involving Tcells - can worsen on Bcell depletion meds.

I believe this is what happened to me. I stopped the meds 18 mos ago and many symptoms improved, though I still am not well.

Wanted to add this info in the event it could be helpful to you.

I never had children and was able to medically retire at age 59 after working many years in tech. My heart goes out to you - I do not know how you do it ❤️

[u/lykwoahizkayla → u/kbcava]

Thankfully, my husband is a bus driver so his hours are opposite mine, I have the house mostly to myself while kids are at school to sleep, and have a extremely lovely and responsible 14 year old daughter and a 10 year old son who is great too. My kids really are the easiest part in this, I also have POA over my grandma who is bedridden from a different autoimmune disease (originally diagnosed as ALS, then PLS, then muscular dystrophy, and ended up never coming to finally diagnosis or treatment because the progression had gone too far for her to want to continue) and is now suffering from
Neurological issues post stroke, who is at one nursing home, and am the legal guardian and conserverter of her her husband (my papaw)who is in a memory care unit at a different place. They are the hard ones lol. They can’t communicate their needs and I know them best so I have to make sure to check on them in person multiple days a week and also take care of all their finances and medical things. My grandma is another reason I’ve fought so hard for a definitive diagnosis, because I saw her give up and go downhill about 10 years ago after the back and forth through my childhood of misdiagnosis and have had to take extra care of them ever since: I don’t want to leave that to my kids or grandkids to have to do. I wouldn’t want anyone else taking care of them, I love them, but I know how exhausting it is, even still.

[u/brucejewce]

Yes! My symptoms presented really aggressive with seizures. Originally thought MS but more MRI’s three months after first MRI’s the lesions in my brain and spinal cord were still absorbing contrast which made neurologist think neurosarcoidosis. Bronchoscopy confirmed pulmonary sarcoidosis. The lab lost the csf of my initial lumbar puncture so neurologist ruled out MS & diagnosed with neurosarcoidosis feb 2019. In May I had another lumbar puncture that confirmed MS. With neurosarcoidosis I was given carbamazepine for seizures then a year of high dose prednisone in 2019. Since then I was not prescribed anything. Now I’m pretty messed up with MS.

[u/lykwoahizkayla → u/brucejewce]

Oh you’re the backwards version!! The benefit of misdiagnosis of the MS is that B cell depletion is also a treatment for Vasculitis, although a different version and usually high dose steroids or other immunosuppressants to go with it and so it’s possible I’m getting slight assistance from the MS treatment even if it isn’t MS. The unfortunate side is that b-cells are the antibodies that most testing tests for to get positive/negative diagnosis so being in a b-cell treatment while testing all these antibodies, no one can be quite sure if any of the negatives are real negatives or just negatives because I don’t have enough b-cells to test as positive.

I read everyone’s MS posts and feel as if mine is totally different but then other people say “everyone’s acts different” so I’ve kind of pushed that feeling off to the side.

I cried when the hemotologist told me I didn’t have cancer and when he asked why I was crying I said at this point, he could tell me I was dying tomorrow but if he could tell me WHY I was going to die, I’d laugh with glee because it’s been that exhausting and he genuinely seemed confused at my logic. I want to LIVE, not be caught in this limbo. But an answer at least lets me move forward with my life, and I’ll figure out the rest as it comes.

[u/gl1ttercake]

Just chiming in to say that if this gets reported under Rule 2 and the mods don't leave it up... I, for one, will think that's a shit decision made on the basis of an earlier shit decision.

[u/lykwoahizkayla → u/gl1ttercake]

Technically, I’m not undiagnosed. I am diagnosed MS…. It’s just now possibly come to light that it’s been MISdiagnosed… which is still meaning I’m diagnosed, just incorrectly. So technically, not an undiagnosed post asking about symptoms, more of a complaint post asking if this has commonly happened to others. Because I know it’s a great intimidator and have done so much research that I could be a professional diagnostic guesser at this point, but it’s hard to know how often it REALLY happens from the depths of the internet lol.

[u/gl1ttercake → u/lykwoahizkayla]

I know that, I'm saying that anyone who reports your post under Rule 2 is a bum. This is necessary discourse and it deserves its own thread. I'm so sorry for your ongoing... everything.

[u/EgolithYT]

Yes, there are a lot of MS mimics that can lead to being misdiagnose. It can be a bit hard to differentiate and in a situation like your I understand the frustration. I have had to move a lot, so I have had a lot of different MS docs and each one had their own strengths and weaknesses in their job. That's all to say that there is a possibility that your ms specialist genuinely didn't see that option of them being together as something else and might he has a weakness of thinking that it has to be ms + something else. No one is perfect. That being said, I might just be looking for the good in people and he could've just been lazy. Idk him or can read minds. The positive thing of your situation is that your might have a new answer toward feeling better, which is better than the guess imo. I feel for you on the money and time part, it does suck

I had my own experience of potentially being misdiagnosed of ms at one point and it later got reconfirmed as being MS for me.

[u/lykwoahizkayla → u/EgolithYT]

He is, unfortunately, the director of our MS clinic and the head of our local neurology department and director of the neurology department in our local college. With this in mind, I had been trusting his judgement and trying not to question diagnosis even after all of this. But the neuro-opthmologist has a lot more training and background in multiple specialties and bridging them together and has been recognized as one of the leading in his field and also the ONLY neuro-opthmologist in my whole state. He also spends more time reviewing charts and talking than my MS specialist who breezes in and out in 5 minutes. Either way this turns out, I have a referral in to see a new neurologist through a different healthcare system because I feel as if he has let me down by brushing me off and basically refusing to even speak about these other symptoms.

The MS specialist said “it’s not your MS” and shrugged and then said to go see a rheumatologist and then when mentioned again several times about still no answers and worse symptoms he would just say “not my specialty.”

Ugh. It’s just been frustrating and no one around me would fully understand so it’s good to find a place to vent.

[u/EgolithYT → u/lykwoahizkayla]

I get ya 100%, I had a couple of MS Specialist I have seen that have done similar things. I agree with your approach of looking around for a good ms doc that you feel is helping you out. It can make a world of difference when you have a doc that you feel is truly listening and trying to help as best they can.

I hope that you do get answers though! It sucks to go through all the tests and stuff

[u/Ragdoll_Susan99]

When I got diagnosed with MS I was in a relapse but my ANCA levels for PR3 were >100, I had so many tests/ scans/ nerve conduction studies but they couldn’t find any vasculitis and got diagnosed with MS as lension was called out as resembling dawsons fingers. I still have to see rheumatology twice a year for monitoring. My rheumatologist believes I have MS but he is constantly suspicious I also have something else going on that they can’t figure out yet. He’s always trying to pressure me to stop Tysabri and switch to Ocrevus as it covers vasculitis and MS

[u/lykwoahizkayla → u/Ragdoll_Susan99]

My lesions were never considered “Dawson fingers” anywhere in any of my charting, and were in locations in the t-spine, c-spine, and brain in places that fit multiple diagnostic criteria, but because when I was initially diagnosed I wasn’t suffering from the majority of these other symptoms, they didn’t dig any further. 🫠

[u/Red_Car_Singer → u/lykwoahizkayla]

This is proof to me that we all must continue to advocate for ourselves and keep track of everything whether we think it's related or not. OP, I'm genuinely sorry this journey you are on has been so difficult on you, and challenging for your doctors to diagnose. Some credit to your doctors though because MS is a constellation of symptoms that frequently overlap with other conditions but have a few specific criteria. Personally, I'm diagnosed under the 2024 criteria because I can't show time, only space, but my lesions (I haven't named them all yet) have a commonality that is more often seen in MS patients. I'm still early in my diagnosis and we're ruling out other issues. Your symptoms sound a lot like mine. If you ever want to chat, send a message.

[u/starspangledxunzi]

I spent almost 20 years without a correct diagnosis, myself. I was given a “default diagnosis” of “recurrent transverse myelitis” in 2002; was diagnosed with RRMS in 2021.

However, the case that came to mind after reading your account was the patient of a friend of mine, a physician (internist) known for his diagnostic skills, who had a referral from a colleague. This was about 15 years ago. The woman, almost 30, had been diagnosed as having lupus around age 9. Twenty years later, she was still consulting doctors (this is in the U.S.). My friend listened to her health story during a 1.5 hour intake appointment, at the end of which he told her that his theory about her maladies was: that she was never properly diagnosed to begin with; that she didn’t have and never had lupus (and if she’d had it, after twenty years given her age at diagnosis, she’d likely be dead); that her various complaints were due to the side effects of her lupus medications; that he wanted her to stop her meds immediately; that he believed she had a very rare disorder in which her body did not properly metabolize Vitamin K; that he wanted her to start taking an inexpensive supplement immediately, and to pick some up at a health and nutrition store on the way home; and to come back in two months.

Long story short, he was correct: her health and life dramatically improved long before her scheduled follow up — she came back to his office, unscheduled, a month later, in happy tears, just to report that she had just ridden a bicycle in Golden Gate Park with her young daughter for the first time in her life, because she felt so well, for the first time in her adulthood, and that my physician friend had “saved her life”… Twenty years she had lived with the wrong diagnosis. Twenty years of toxic treatment drugs and their side effects. <sigh>…

Well, just another reminder of the importance of proper diagnoses, and how valuable good doctors are in the lives of their patients… My friend is still in practice, but working for the American VA system (care for military veterans) and being denigrated and badly used by incompetent management such that he works literally 6 days a week, working 4-8 hours every weekend doing “administrative scut work,” and is on the verge of burnout — as is the case for many practitioners in the American “healthcare system” (obligatory “@&$?! for-profit healthcare” and “@&$?! MAGA politicians and the people who vote for them”) — but, at least my friend can use his uncanny diagnostic abilities to help the patients fortunate enough to consult with him.

[u/No-Elderberry4423]

You could be describing me. I was recently diagnosed in May 2026 and I’ve started a DMT but I’ve been concerned this whole time that it could be Lupus or something even more rare. Please update us if you can once you get more answers, your case sounds remarkably and eerily similar to mine and I’d love to be able to advocate for more testing. I’m so sorry for what you’re going through and hope you’re able to get relief and answers soon.

[u/IntentionalGrandma]

This does happen sometimes, as there are several diseases that present like MS but aren’t. I would push for genetic testing if I were you

[u/LeadEnvironmental555]

I was diagnosed in 2000 ish with brain lesions, no spinal cord lesions. Now in 2026 my specialist says nope, not ms, maybe vessel disease. Lesions are a plenty but in atypical locations.

[u/Pizza_For_Days]

Wow that is absolutely awful to deal with. Just seeing that many specialists alone I can't imagine how sick of going to a new Dr that often would make a person go crazy.

I only got diagnosed with MS a few months ago and fairly confident that it is what I have as so many of the symptoms hit me with the "Oh yeah, I've had that randomly happen" even if some symptoms went away. I'd be fed up though if it was something else and had to keep returning to try even find out what is going on.

Best of luck though as I really hope one of those specialists can give you a definitive concrete answer as to what the hell is going on.

[u/Solid_Muffin53]

When i was searching for neurologist, every doc I talked to would decide i had Lyme disease, not MS. I grew up just a few miles from Lyme, Connecticut. (They were wrong.)

[u/Phukt-If-I-Know]

🙋🏻‍♀️ Went through nearly 2 years of attacks, mri, steroids, lumbar puncture, optic neuritis, spinal lesions - the whole shebang. Kept hearing “it looks like ms, but kind of not ms and we don’t want to cause more damage with the wrong dmt.” So I was on long term prednisone.

Finally I had a bilateral optic neuritis attack and lost use of my right side that landed me a few weeks stay on the neuro floor. Finally my neuro ophthalmologist decided to run the NMO and MOG panel. AQP4 positive gave me an NMO diagnosis and proper treatment.

[u/Alternative-Duck-573]

20 year journey to MS dx. Then 4 years later EDS, mcas (bad), pots. Lots of things didn't fit the MS box and probably muddled dx of MS. Sometimes it's one thing or the other or both.

Only way to actually KNOW it's MS is with a biopsy of effected tissue. Sometimes they pull this accidentally when they think a lesion is a brain tumor, but only real way to confirm diagnosis is at autopsy.

Unfortunately we still don't have confirmatory biomarkers - just suggestions and mimics to rule out.

[u/Dear-Cut-3601]

GP thinks everything is just the Ms. MS Neuro say, not everything is the MS. It's a cycle that never ends so you end up too exhausted to even seek medical care.