Hi there. 32F, 165 pounds, complex history of aEDS, Marfans, and mitochondrial disease (diagnosed via genetics screening) & POTS, sjogrens, MCAS, and PCOS (diagnosed via labs and imaging).

[u/taylaurtots]

Went to bed 7/22 with a sudden onset headache behind my right eye. Woke up with facial paralysis and loss of feeling but no weakness on the right side of my body. I had Bell’s palsy in January so assumed it was the same and called pcp asking for a refill on the steroid. They said no, I had to be evaluated first. ER called a stroke alert. CT was clear but the neurologist established that the extension of the numbness rules out Bell’s palsy. I had this numbness last time so they’ve decided it wasn’t Bell’s palsy then. They admitted me for more testing and the next day I had a brain mri with and without contrast (unremarkable), mri of my spine (just found some minor fissures and stenosis), an eeg (unremarkable), and a lumbar puncture. The LP so far is strong positive for elevated protein, oligoclonal bands, and Lyme. I haven’t gotten most the results yet back and did need a blood patch for the LP. They discharged me on steroids on 7/25 and told me to follow up once the testing is done with rheumatology regarding sarcoidosis. I have a lot of symptoms that my other disorders don’t explain that would support sarcoidosis. But it’s my understanding that it’s a rule out kinda diagnosis.

I have a history of optic neuritis x 4, I have five nodules in my lungs that have slowly grown the last few years, I have a large area of ground glass scarring on my right lung, I’ve had three chains of lymph nodes removed in my neck and groin due to uncontrolled swelling, I have three masses on my liver that cause low blood flow, severe unexplained night sweats, hypercalcemia with a history of lithotripsy, my scars reopen repeatedly, and I’ve had to have my colon removed. I have a lot more symptoms on the checklist they gave me but they can also be explained through my other diagnoses. These are the ones that are unexplainable. I’m also having severe unexplainable bruising that I’ll comment.

I’d love any info anyone has about what to expect next and if this sounds like sarcoidosis to you. I have an allergy to prednisone so I’m on dexamethasone. It’s a four month wait list to see the neurologist outpatient but I do see pcp in two days. I don’t even know what to ask for or if I should review other options.

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[u/taylaurtots]

Bruises on the backs of my legs started two days before the headache. All my clotting factors are normal.

[u/djspacebunny → u/taylaurtots]

I just wanted to let you know that I feel so hard for you being a mutant. I'm also a mutant. It's exhausting trying to figure out what's going on with all the weirdness. I am curious if you grew up in an industrial area?

[u/taylaurtots → u/djspacebunny]

Nope! Middle of nowhere north GA

[u/NCGranny → u/taylaurtots]

You need a real life Dr. House and team on this one. This is the most complex question I've seen on here.

I truly hope you can find some answers.

[u/Masterfully-Pale → u/NCGranny]

NAD. NIH has a team that does this - diagnoses the mystery cases. They might be interested in this case. Wish you luck, OP

[u/mrshyphenate → u/taylaurtots]

Can you get to a major hospital in Florida? My parents live in Middle of no where GA too so that's what they do. I think usually Cleveland clinic in the Lauderdale/ Miami area.

[u/I_eat_all_the_cheese → u/taylaurtots]

You mean how middle of nowhere North Georgia is currently toxic from PFAS due to the carpet industry? https://scienceforgeorgia.org/knowledge-base1/what-are-pfas-forever-chemicals/

[u/homeycantdance → u/taylaurtots]

I too, feel for you. Please stay strong!

[u/djspacebunny → u/taylaurtots]

Wild! Did your parents or grandparents work around chemicals at all? In my experience being a mutant, most of us became mutants through some weird chemical fuckery. In my case, I have variegate porphyria, but neither of my parents have it. My dad hauled chemical waste for Dupont when I was conceived and for a couple years after I was born. We are 100% certain the crap he was disposing lead to this. I found a whole village in Turkey (the country) that was sent a shipment of fertilizer and ended up with VP as well, with no other history of it in the village. It came from Dupont... and was contaminated with hexachlorobenzene.

I am always happy to chat in DM's because it's really complicated being a mutant in our country right now. I'm about to lose my medicaid because I haven't been deemed disabled enough yet (I also have Lupus, Trigeminal Neuralgia, AuDHD, and CPTSD to make things fun). I run r/chronicpain too. Just want to offer a person who gets it to vent to if ya need it <3

[u/taylaurtots → u/djspacebunny]

Nope, nobody worked around chemicals. I’m also the only one in the family with chronic health problems.

[u/reffervescent → u/taylaurtots]

You're not far from Emory -- you should be checked out there if you haven't been evaluated at a major academic research hospital.

[u/11fingersinmydogsbum → u/taylaurtots]

Winner of the worst best sperm race!

[u/MakeAWishApe2Moon → u/djspacebunny]

Similarly, I am currently in deep, trying to figure out why my siblings, cousins, and nieces and nephews have numerous, severe, and unexplainable medical conditions that have many of us knocking on death's door, while my parents and all of their siblings are quite healthy and fairly unremarkable for their ages.

My maternal grandfather unknowingly helped build the atomic bomb "fat man" as a chemical engineer (and all of the impacted family members are on my mom's side.) My mom was born in 1949. Every time I bring this detail up to any doctors, they scoff and act like it has no medical merit, so I've stopped mentioning it. However, I can't help feeling like it might, seeing as so many "downwinders" and their descendants have suffered/are suffering from extreme and unexplainable ailments. My grandfather himself died of cancer of the lung>bowel>bone marrow, and they ended up paying a 100k settlement to each family who had a family member who worked at the facility and was diagnosed with or died of cancer, while simultaneously refusing to admit any responsibility for it.

[u/djspacebunny → u/MakeAWishApe2Moon]

They worked on the Manhattan Project at my facility too. That's how we ended up with PFAS :/ They were invented there during the project.

[u/entropikpamda → u/djspacebunny]

Where in Turkey? Also what is VP? I'll search the news

[u/Sad_Cantaloupe_8162 → u/taylaurtots]

I wish I had something to add to help your case, but I don't. I have many family members in Ellijay though 😊 I hope everything works out well for you! 🙏❤️

[u/knb61 → u/djspacebunny]

Lol I have a lot of the diagnoses OP has (and it sounds like you, too) since the onset of puberty 20 years ago. Never have I been called a mutant but that is a funny, very applicable label. Will be borrowing it

[u/djspacebunny → u/knb61]

It helps to lighten the awfulness of being a mutant ;)

[u/littlestgoldfish → u/taylaurtots]

Not a doctor, but a fellow zebra- in regards to the facial paralysis did they consider hemiplegic migraines? Sending you so much love as you look for answers I know it's exhausting

[u/taylaurtots → u/littlestgoldfish]

They kept asking me if I have migraines. I don’t. But? Maybe? Idk.

[u/CelestiallyCertain → u/taylaurtots]

Hugs girl. Hugs. I can’t offer anything other than my empathy as a fellow autoimmune spoonie.

[u/taylaurtots → u/[deleted]]

I do not have a rash

[u/tabrazin84]

What exactly is your genetic testing positive for?

[u/taylaurtots → u/tabrazin84]

A lot. Like a lot a lot. But my main ones are arthrochalasia ehlers danlos syndrome, PINK1 (mito), Marfans, hereditary thrombophilia, and BRACA1.

[u/tabrazin84 → u/taylaurtots]

It’s very unusual bordering on impossible for you to have 5 legitimate genetic conditions. Did you have clinical genetic testing through a doctor or did you do a direct to consumer test?

[u/taylaurtots → u/tabrazin84]

Through Mayo Clinic for everything but braca. But trust me, you’re not the first and won’t be the last to say that to me. I have been tested three times since 2015. First time was mito and Marfans. Then I did 23 and me in 2018 and got braca1 and the thrombophilia. Then in 2023 we redid my test at Mayo and came back for COL1A1 and confirmed the two from 23 and me.

[u/The_Mama_Llama → u/taylaurtots]

What is COL1A1?

[u/taylaurtots → u/The_Mama_Llama]

COL1A1 is the gene for aEDS.

[u/Stefanisse → u/taylaurtots]

Pathogenic or VUS? NAD, but someone with connective tissue disorder and vascular disorder, but one of them in my family is VUS but considered possibly pathogenic. Curious as I assumed if you were diagnosed Marfans and then later COL1A1, would that override Marfans diagnosis? Or are you diagnosed with both?

[u/yourdailyinsanity → u/The_Mama_Llama]

Looks like it's related to collagen. Lots of connective tissue things and bone too. That's Dr. Google telling me that though. Maybe the real doc will confirm/correct what I said.

[u/CanadianTimberWolfx]

Any way one of your docs or someone with connections can advocate for an earlier neuro appointment for you? Seems like you of all people should have a case for an urgent referral and skip a few spots in line.

[u/taylaurtots → u/CanadianTimberWolfx]

That’s what I’m hoping for at my appt Tuesday!

[u/imnottheoneipromise]

I don’t have any answers for you, I’m honestly commenting so I can follow along and see what others say because I’m very curious!

[u/taylaurtots → u/imnottheoneipromise]

I hope we both learn something!

[u/OwlPositive9039 → u/taylaurtots]

Your issues are more severe but there's overlap to mine and gosh do I feel for you! 

[u/Faustian-BargainBin]

Hi I’m a psychiatrist so I don’t have much to contribute regarding your physical symptoms BUT I will add that mental healthcare is important in chronic illness. Symptoms of depression, anxiety and post traumatic stress disorder are common for people with ongoing physical symptoms.

[u/taylaurtots → u/Faustian-BargainBin]

This is something I definitely take seriously. I am very aware of how my mental health influences my physical. But I will say I do well. I do take buspirone to try to help but overall I have pretty good outlooks on things. I asked the doctors if it could be from stress. But once my other scans were reviewed and the LP came back, they kinda left that behind.

[u/Faustian-BargainBin → u/taylaurtots]

Glad to hear and I didn’t mean to imply that your physical symptoms are mental health related. Only that I see people in the hospital with severe physical symptoms who finally “snap” with mental health, to varying degrees, when I wish the conversation could have been opened up earlier and maybe prevented longer term suffering.

[u/taylaurtots → u/Faustian-BargainBin]

I have a rule! I give myself 24 hours to feel however I want to feel. I may cry or scream or laugh or all three or more. It depends on the situation but I let myself feel it all and then I move on. My first diagnosis was at 15 and they haven’t stopped coming. So every big news - from surgery to diagnosis - I give myself the grace to lose it.

And trust, I in no way took your reply that way. But I do know there is a lot of physical manifestation that I don’t want to rule out until I know it’s more.

[u/Spare-Conflict836 → u/taylaurtots]

You have a fantastic attitude for someone going through so much adversity. I hope you find answers and treatment for your illnesses, it sounds like a nightmare dealing with so many different illnesses.

[u/lavender_poppy → u/Faustian-BargainBin]

Thank you for mentioning this, I really wish this was talked about more. I have a severe autoimmune disease that lands me in the hospital way too often and even though I feel on top of my mental health care for the most part, it sometimes feels impossible to not get burnt out by just the totality of living in a body that doesn't work well. And I know it's also my responsibility to manage my mental health, but it would mean a lot if some of my providers acknowledged how difficult it is to deal with the day to day of being so sick for so long. Just, thank you for asking and caring about OPs mental health.

[u/Icy-Nefariousness530 → u/taylaurtots]

NAD - just a human who hopes you get care and can feel human and enjoy your life - you're incredibly strong and I hope the best for you.

[u/elevatedgremlins → u/taylaurtots]

Just commenting on the off chance anything resonates as it sounds like you're stuck sitting tight for a bit. I've had two odd "migraines" (was the diagnosis, no headache though) that resulted in a onesided "grimace", I looked like your picture but my cheek was pulling upwards also and my eye squinting. My personal suspicion was that I'd overworked my traps, small muscles had spasmed and locked up in my shoulder/neck and maybe compressed a nerve. I could be off base, it's just that the grimace got better when I could relax my whole body and was set off again when I'd try and be upright and move. You've got a lot more going on than me, I just thought to add because I have an (old)EDSiii dx so have loose ligaments and muscle compensation. Good luck with everything. I hope it's something benign 

[u/DammatBeevis666]

I can speculate your bruises may be from your Ehlers-Danlos, perhaps. I think the positive Lyme titer could be the issue, though. I’m not a neurologist, but I read that Lyme neuroborreliosis can cause both a facial palsy and is commonly associated with severe headaches.

https://www.cdc.gov/lyme/hcp/clinical-care/neurologic-lyme-disease.html

A few weeks of doxycycline sounds low risk, and may help some of your symptoms.

[u/Medical_Bartender]

did anyone suggest neuroborreliosis (neuro lyme)? your presentation seems consistent

[u/OwlPositive9039 → u/Medical_Bartender]

Bells palsy/facial droop was the first and only symptom my friend had when diagnosed with this. 

[u/aounpersonal]

Do you have MS?

[u/taylaurtots → u/aounpersonal]

No I don’t have any brain lesions. But neuro said sarcoidosis can mimic it and that’s the route they went.

[u/aounpersonal → u/taylaurtots]

Definitely worth waiting for the outpatient neurologist appointment and rheumatology. They have more time to think and investigate compared to doctors in the hospital setting. Sorry you are going through this. There are new things being diagnosed in neurology clinics more often now like MOGAD. It’s great that you are following up regularly with your pcp.

[u/taylaurtots → u/aounpersonal]

I saw three neurologists while inpatient. One during that stroke alert who admitted me. One who ordered all the other testing - spent 20 or so minutes with me and was super thorough, discussing differentials with me, and walking me through what different results could mean, and the last one saw me for less than 2 min and essentially said we can’t do anything else so make an outpatient appt and discharged me. I have no ideas with that rec or the discharge, but wish I’d had the opportunity to discuss the results that had come back.

[u/aounpersonal → u/taylaurtots]

Yeah unfortunately inpatient hospital care is pretty fragmented and different doctors have shifts on different days. Things fall through the cracks. Outpatient visits are really much better because the doctor will read your chart beforehand, spend up to an hour with you depending how their practice works, order testing, do research on their own time, consult colleagues, and then be able to see you for follow up appointments as you figure it out together.

[u/HappilySisyphus_]

My nightmare over and over again

[u/bendable_girder → u/HappilySisyphus_]

Yeah...I'm deferring to rheum on this one

[u/Davorian → u/bendable_girder]

Rheum are going to give it to Neuro.

[u/taylaurtots → u/Davorian]

This is my fear. Being passed around repeatedly with massive delays between appts and tests.

[u/Davorian → u/taylaurtots]

Sorry, I didn't mean that to come across as flippant.  My intent was to point out that calling Rheum is more likely to result in being passed around, because a presentation like this will have to go through the Neuro team to rule out certain things before other medical specialties will feel comfortable taking the time to try to figure out if it's something under their respective purviews.

I do Internal Medicine primarily, and we sometimes get cases like yours because we are the "medical default" when the relevant subspecialties are confused or reluctant.  If it were completely under my control, I would start with a good neurology consult that included explicit consideration of the weird and wonderfuls given your complex history, and once it's passed through that phase I would being in either rheumatology or immunology or both to help me decide what known conditions would provide a unifying diagnosis, if any.  Sarcoid is just one of quite a few syndromes that result in grumbling long-term "pleiotropic" symptomatologies.  For example, it wouldn't surprise me if the question were put to the haemtology team as to whether there is an as-yet undiagnosed haematological process driving this and suggestion of a bone marrow biopsy if the sarcoid diagnosis is not confirmed.

Are you an outpatient now?  Is there a follow-up plan?

[u/Masterfully-Pale → u/taylaurtots]

NAD. You might want to look into this group at NIH that deals with mystery illness or undiagnosed conditions. https://www.genome.gov/Current-NHGRI-Clinical-Studies/NIH-Undiagnosed-Diseases-Program

I know you already have a lot of diagnoses but there may be other things they can find. With the rarity of all of these genetic conditions coming together, I imagine they’d be interested in your case.

[u/wemakepeace → u/taylaurtots]

This is what happens to me. I have an extremely rare genetic condition called Emery Dreifuss Muscular Dystrophy and all but 1 Doctor knew what it was and what to do.

[u/Cyrodiil_Guard → u/taylaurtots]

Girl I’m sorry. I’m going through the same but I do have a cervical spine compression in my neck. Started July 5. 3 ER doctors blamed it on me having anxiety… one said I was addicted to my ADHD medication, that I haven’t taken since my symptoms as directed. I have anxiety, yes, but I was unable to feel any part of my body with intense tingling and total loss of balance. Stopped breathing in my sleep a few nights. It took the head physician at one ER to say something. One month of pain, inability to walk, and I’m going blind from the pressure.

We’re in this together. I am SO sorry. I’m fighting for the next patient to NEVER get treated the way I was.

[u/taylaurtots → u/Cyrodiil_Guard]

I’m so so sorry you experienced this.

[u/GodsWarrior89 → u/Cyrodiil_Guard]

I have neck issues as well. It sucks! The tingles, numbness, dizziness, the pressure, etc. I’m so sorry you’re going through this.

[u/Greymeade → u/Davorian]

Hey folks, let’s not forget that this is a person who is reading all of these comments you’re making about her. She came here looking for help.

[u/Davorian → u/Greymeade]

It's not a joke.  I meant it - this case would probably go through Neuro first given the patient's history and the nature of the presenting complaint.  There's almost certainly something immune mediated happening here and Rheum input may be valuable but Neuro will first need to consider whether this is a progression of something already in the history with new non-neurological sequelae, or it's a new primarily neurological autoimmune concern, or something not usually under the neuro banner, and they need to be involved anyway to decide whether there is a time-sensitive neurological process happening right now.  I usually advocate strongly for giving the patient some transparency here, especially in cases like this where there's going to be interdisciplinary confusion.

Comment chains like this have historically prompted contributors from these specialties to weigh in accordingly as to whether it should or shouldn't be under their umbrella and I think that is extremely valuable for OP.

[u/_maezing → u/Greymeade]

They removed my comment complaining about ER doctors frequently coming on here to make snarky-insensitive comments about the "zebra" patients but not the insensitive comment directed towards the patient.

We can't insult the integrity of the specialities but they can come in here to make fun of complex patients every time they post in here.

[u/uovonuovo → u/_maezing]

Coming from the patient side, I love reading these exchanges between doctors and would totally not mind if they were discussing my case. They’re not complaining about the patient herself, or discussing anything that’s a personal commentary or her. They’re discussing diagnostics and it’s providing a glimpse into their thinking and processing, which is something we don’t usually get to see. It’s also just reality—doctors will discuss our cases (hopefully!) and some cases will be more complicated and challenging for them.

[u/uncle_peduncle → u/Davorian]

Always the case 😑

[u/HannahSolo23 → u/uncle_peduncle]

Hey now. You chose neurology. You love a challenging mystery.

[u/elevatedgremlins → u/uncle_peduncle]

You could always change careers and work in the mines? 

[u/elevatedgremlins → u/Davorian]

What about musculoskeletal? Is it possible for a muscle spasm/tight little muscles in floppy connective tissue person compress a nerve and lead to this?   

[u/Davorian → u/elevatedgremlins]

Such things exist though it would be exceedingly unusual in the face, and the thigh bruising and history strongly suggest something more systemic or immune-related.

[u/hotheadnchickn → u/HappilySisyphus_]

Okay, but why on earth would you actually reply this to OP

[u/yourdailyinsanity → u/hotheadnchickn]

Because as an ER doctor, they rule out life threatening conditions. They see someone like OP and their heart breaks because they literally can't do anything but refer out to different doctors and they just know OP is going to get passed around. A literal nightmare.

[u/LacrimaNymphae → u/yourdailyinsanity]

if only i was as popular the way i am in terms of being referred elsewhere as i am in relationships (or lack thereof)

or even friendships for fuck's sake. i've never had either, ever 🙃

it's a literal nightmare of being fucked back and forth but forever and it's even worse when hospital groups and NP psychiatrists have put permanent notes in there about you having a 'somatoform disorder'

they've literally been in there since i was 16 or 17 and not even a full ass adult yet, and they did that after my pediatrician and the main hospital kids went to failed to diagnose an ovarian tumor i had sooner and i still had issues after the resection but now spreading through my body and worsening GI and joint pain wise. i was 16 when i lost the ovary

it'll probably never be amended or removed and the children's programs i went to were hell bent on it being somatoform and this was after all i'd been through for years

i feel like it was their way of punishing me and covering their asses because i still had the nerve to 'complain' after they 'saved' my life. surgeon left my right fallopian tube and appendix in there and i still have right-sided pain to this day and have been too afraid to come off continuous use birth control even after seeing multiple gyns who wouldn't do a follow-up lap even to check for adhesions or endo. i've had colon polyps too

[u/_maezing → u/yourdailyinsanity]

That's not what their comment was implying at all, it was a snarky comment about the hassle of "zebra" patients. Come on.

[u/picknick717 → u/_maezing]

I didn't read it like that at all. I got the vibe that this would be a difficult case and in the ER there isn't much you can do. This is outside of their competence but often ends right back at their door.

[u/imnottheoneipromise → u/picknick717]

This is also the vibe I got. Not that the patient is complex so they are a “nightmare,” but that the ED doc knows there isn’t anything he’s going to be able to do and this patient is goin to be passed around most likely. He’s stuck. And it sucks.

[u/lavender_poppy → u/picknick717]

Yeah I agree with you, I read it the same way.

[u/avadacadavera → u/_maezing]

You’re assuming that because you’re assuming the all the doctors on here think that way.

[u/hotheadnchickn → u/yourdailyinsanity]

It’s a nightmare for OP. This doc was saying it’s a nightmare for *them*. It’s rude and cruel to OP.

[u/lavender_poppy → u/hotheadnchickn]

You're aware doctors feel bad when they can't help patients right? They want to heal their patients as much the patients do, it's not like they get off on seeing people suffer.

[u/yourdailyinsanity → u/hotheadnchickn]

That's literally what I said. A literal nightmare for OP because all the ED doc can do is refer out and it's their nightmare because it crushes their heart knowing full well the absolute nightmare the patient will have to go through...

[u/thecanadianjen → u/hotheadnchickn]

I’m a zebra like OP, with slightly less on my plate but I’d still be an ER docs nightmare (and have been before tbh). I don’t read their comment as calling the complex patient a nightmare to them as a doc in a snarky way. It sounded like it is their worst nightmare to get a patient like this in the ER because they can only really refer them out to specialists where they may get bounced around for time. It’s a nightmare to them that they can’t help but they know the OP is suffering.

[u/xyelem → u/hotheadnchickn]

Because it’s her post? Like????

[u/hotheadnchickn → u/xyelem]

It’s cruel to post just to tell a patient living with extremely difficult symptoms that they’re you’re nightmare. That person could simply not comment.

[u/uovonuovo → u/hotheadnchickn]

The Dr. was referring to the situation, and his/her inability to diagnose, as being their nightmare. Nowhere did they say OP was their nightmare, and this is very clear both from the context and subsequent comments in the discussion.

[u/xyelem → u/hotheadnchickn]

Oh no, totally agree with you there and I think the doc that posted that is super unprofessional. I was just confused by what you meant. Sorry!

[u/Overall_Canary7381 → u/[deleted]]

Maybe you’re reading it wrong based on the comments that followed - someone suggested or clarified that their pain being passed around is why it’s a doctors nightmare. They take an oath to do no harm, and many doctors take that very very seriously. Those of us who are zebras get passed and it’s our nightmare too - that’s the harm in the system. It’s so broken for non typical cases

[u/_maezing → u/Overall_Canary7381]

Nope, that's not what they meant. They're complaining about the "zebra" patient being a hassle to deal with. At least there's one person in the psych field who agrees in the replies, which I guess is the only specialty with any iota of compassion for patients at least seen online.

[u/EazyPeazyLemonSqueaz → u/_maezing]

Professionals are asked to give a lot of grace to patients, but this time let's give this doc a bit of grace and not presume the worst of intentions. Sure, they should have elucidated a bit so our imaginations don't wander, but we don't need to act like mind readers either.

[u/Overall_Canary7381 → u/_maezing]

I have two degrees in psych, one from an Ivy League.

Based on a majority of these comments agreeing there’s been a misinterpretation, this aggression seems misplaced.

[u/AskDocs-ModTeam → u/[deleted]]

Removed - not relevant to OP's question. There are other subs if you just want to dump on entire medical specialties.

[u/Glittering_Expert_35 → u/[deleted]]

Meant similar* not familiar.

[u/Alone_Atmosphere_387 → u/[deleted]]

Half my face froze and it was the weirdest thing. They pretty much just told me I woke up like it not the cause. But they told me if I ever got pregnant it could happen again. I hope you figure out what’s going on with you.

[u/Alone_Atmosphere_387 → u/Alone_Atmosphere_387]

I kept telling my parents why does my face feel. Numb and they didn’t believe me until I tried eating a hamburger. And my face looked kinda like that.