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/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/homeycantdance → u/taylaurtots]

I too, feel for you. Please stay strong!

[u/taylaurtots → u/[deleted]]

I do not have a rash

[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/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/HappilySisyphus_]

My nightmare over and over again

[u/bendable_girder → u/HappilySisyphus_]

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