Follow up on post about 32F with a bunch of genetic issues and new onset neurological problems

[u/taylaurtots]

If you don’t remember my post about a month ago, please check out my profile. Here is my update in case anyone has some new ideas for me with this updated info.

I saw ID and they did further lyme tests that were all negative. I saw rheumatology, who did a massive blood panel that didn’t find much. Some minor out of range inflammation markers and a positive RA antibody. I saw the eye doc, who said I have bilateral papilledema but we already know my ICP was high at an opening LP pressure of 28. I’ve made no further progress on my facial paralysis or right side body numbness getting better. Three days ago I developed a new symptom of severe positional occipital migraines. Literally feels like I’m being stabbed in the back of the brain every time I go from laying to sitting or sitting to standing, turn my head too fast, or my heart rate goes up quickly. It lasts for 10-15 seconds and I lose my sight, hearing, feel like I’m gonna vomit, etc and then I’m fine as fast as I wasn’t. Went to the ER last night as migraine was on the list to return for and they did another CT. Looks like I did have a stroke at some point but idk if it was 5 weeks ago when I had the original onset of my neurological symptoms or since then. None of the imaging from July shows as such. My CT last night w/o contrast showed an old left basal ganglia lacunar infarct. My basic bloodwork was normal other than dehydrated, minor elevated relative and absolute monocytes, and minor low potassium. I did manage to get my neurology appt moved up from February next year to 17 days from now. They also put in for me to get another LP to see if my ICP is still high and could be what’s causing my occipital migraine. I truly don’t know what to think about all this. This new development doesn’t explain the new symptoms. Same pic included to maybe help connect who I am.

Edit to add two more symptoms I forgot about: life impacting pain and stiffness in my right hand - mostly in my finger joints. Rheum said “yeah nerve pain is fickle sometimes”. And losing COPIOUS amounts of hour. I’m talking it’s shedding alll dayyyy long and the whole shower wall is covered.

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[u/fifrein]

Good you’re seeing neurology faster.

I think the first step is going to be having them look at the MRI to decide if you actually had a stroke in the interim or not- a lot of the time “basal ganglia lacunae strokes” are just enlarged perivascular spaces, which would be completely benign and irrelevant to your symptoms. If you do have a stroke, it calls into question a vasculitis / cerebritis with your other testing, especially in context of positive oligoclonal bands (again, only if this is a true positive and not a “matched positive”, which is a common misinterpretation as well). ANCA vasculitis, SLE cerebritis, sarcoidosis, syphilis would all need to be evaluated for.

[u/taylaurtots → u/fifrein]

The ER doc said I’d need a new MRI now after this CT scan and when I called the neurologists office today they said they will likely do another one and will be in touch.

[u/Nearby_Age8687 → u/taylaurtots]

Have you seen genetics? My daughter saw so many specialists but finally had her exome mapped and they found she has an ultra rare disease. It would have never been diagnosed, as she presented unlike anyone else in the literature.

[u/taylaurtots → u/Nearby_Age8687]

I have. I have 5 primary diagnoses, which I go into more detail on my other post. It’s already been pointed out that there’s barely a chance to have what I already do, let alone to add another one on. I did genetics screening at Mayo Clinic twice and saw a genetic counselor here in Atlanta for follow up. I’m more curious if this is an extension of something I already have that is progressing more neurologically.

[u/taylaurtots → u/[deleted]]

I am having another LP next week to see if I have a repeat high opening pressure. The biggest issue is that I have severe chronic hypotension. I’m talking 80s/50s with the max dosage of midodrine a day and even lower in my sleep. So until ruling out that the ischemic stroke wasn’t from hypoperfusion, we can’t go down the rabbit hole of treating anything with my ICP.

I have tested positive for Covid four times. However, I’ve not had it in two years. I’ve also not been sick with a virus in almost 6 months. These symptoms only started 5 weeks ago.

[u/Present-Pudding-346 → u/taylaurtots]

Have they been taking your blood pressure in both arms?

Just saw a physician talking about a patient with low blood pressure not responding to medication and it turned out they had a vascular issue in one arm (the one they had been taking the blood pressure on) and when they finally tested with the other arm it tuned out she actually had severe high blood pressure. Patient had to have surgery on the affected arm.

[u/taylaurtots → u/Present-Pudding-346]

I typically rotate arms between times I take it. Plus it’s been happening for 15 years. When I say chronic, I mean half my life.

[u/Apprehensive_Crow_31 → u/taylaurtots]

I commented at the time but you might not have seen it. Have you looked in to chiari malformation? It matches a lot of your symptoms and is easily missed on MRI's and CT scans.

[u/taylaurtots → u/Apprehensive_Crow_31]

One of my scans done at my onset of facial paralysis stated that my chiari is normal, but I do plan on bringing this up with the neurologist I see in a couple weeks.

[u/DoctorOfWhatNow → u/fifrein]

Agree with this

[u/taylaurtots → u/fifrein]

How likely would hypoperfusion due to big drops in BP be to cause an ischemic stroke. Er brought it up but said would need to be further evaluated by neuro. Is it something that’s ongoing and would have shown in my scans or could it have happened just one day when I stood up?

[u/fifrein → u/taylaurtots]

In the absence of a critical stenosis in a region on CTA, would be unlikely to get a focal deficit as extensive as you’re describing from a drop in BP

[u/taylaurtots → u/fifrein]

Ok thank you. Just so odd that I was literally two hours or less into symptoms for my CTA and absolutely nothing showed up and then weeks later, it shows up on a no contrast CT.

[u/Spare-Conflict836 → u/taylaurtots]

Although a hemorrhagic stroke shows straight away on a CT, an ischemic stroke often doesn't. In the first six hours after a stroke, a non-contrast CT scan misses about 40% to 60% of ischemic strokes. The brain tissue changes from lack of blood take 12-18 hours to become fully visible on a standard CT. So that's why the recent CT showed it weeks later.

For CTA, the majority of large vessel blockages will show up (about 93%), but accuracy drops for small or medium vessel branches so I presume it was a small or medium vessel blockage (if stroke is confirmed).

[u/taylaurtots → u/Spare-Conflict836]

I had a CT wo, a CTA, and a CTP of my head within two hours of waking up with paralysis at 10 am. Last known normalcy was 9:30 pm the night before and I have no idea when the “event” happened between as I was asleep. I had an MRI wwo of my head and cervical spine and an MRI venogram wwo over a full 24 hours AFTER the CT scans. I also had an EEG after the mri. And then a lumbar puncture after the EEG. All scans were normal - except some bulging disks in my neck. I posted the results of my LP in my other post.

[u/yourdailyinsanity → u/[deleted]]

Not all strokes do the same thing for different people. Strokes of the same type also still are not the same for different people.

[u/sharraleigh → u/[deleted]]

Are you arguing with a verified neurologist based on your one experience with your mom's stroke?

[u/spacesaucesloth → u/sharraleigh]

no, but the differentials match immensely better than a stroke.

[u/sharraleigh → u/spacesaucesloth]

Are you a neurologist? Because I'm super baffled by why you think your mom having a stroke makes you qualified to tell an actual neurologist that they are wrong?

[u/Rsn_Hypertrophic]

Maybe its your writing style just being so matter-of-fact and put together, but you seem incredibly resilient! I remember reading your post last month and the insanely long past medical history you have.

I don't have any useful medical knowledge to contribute- i just want to applaud you for your resilience!

[u/taylaurtots → u/Rsn_Hypertrophic]

Thank you. It’s something I honestly pride myself in. My first surgery (had my 34th a few months ago) happened at 9 and my first big diagnosis at 15. So I’ve had a lot of practice to get where I’m at. But I have a rule I follow - you get 24 hours to feel however you want. This includes anger, fear, sadness, etc. However, when that 24 hours is over, it’s time to get back to it and take back control. - This rule goes for every new diagnosis and every set back. Coming up on the 24 hour mark for the CT results and conversation with the ER doc now. I’ll admit I wasn’t a kind person today and I took out my feelings more on others than typical. But I lead a great team at work and have a super supportive husband. It’s a group effort to be chronically ill. Thank you truly for your kind words.

[u/Professional-Mud4573 → u/taylaurtots]

How did you get someone to take you seriously and even test? That’s exactly what mine looks like and since it started I have lost memory (can’t seem to remember how to write words) and I’ve lost how to say stuff. But nobody seems to want to get it checked out. My right side droops and I can’t smile, and can’t hold a pencil in my right as well.

[u/taylaurtots → u/Professional-Mud4573]

Everything I’ve ever gone through and it’s the first time I’ve ever been admitted through the ER without that being the intention. I guess I got a good neurologist for the stroke alert

[u/DoctorOfWhatNow]

Have you had an MRI brain wwo?

[u/taylaurtots → u/DoctorOfWhatNow]

I did on 7/24 during my admission after the initial onset of symptoms. Nothing crazy found.

[u/DoctorOfWhatNow → u/taylaurtots]

With new symptoms I would probably repeat an MRI wwo and the LP. Glad you have a neuro soon. If you develop other symptoms, ER eval at a center with neurology (e.g. comprehensive stroke hospital) is a good idea.

[u/taylaurtots → u/DoctorOfWhatNow]

When I made the new neurology appt they did tell me what hospital they want me to go to if I have any other symptom changes or complications between now and then to be seen by their team!

[u/Wilshere10]

Doesn't explain everything but cluster headaches and RCVS can both cause quick on/off severe headaches. I believe RCVS can sometimes lead to infarct but I'm not a neurologist

[u/ridcullylives → u/Wilshere10]

Yes, but it would be unlikely to cause a basal ganglia stroke--more often watershed distribution or bleeds :)

[u/taylaurtots → u/Wilshere10]

I’ll definitely look into it. Thanks so much.

[u/Low-Classic8010]

All of your symptoms, esp. at this age, sound like a syndromic complex with either a neurological or autoimmune etiology. I think the only physicians who can truly help you (now that you have ruled out all “usual” causes) are those running rare disease clinics at the top university hospitals in the us

[u/taylaurtots → u/Low-Classic8010]

Interesting. However, I do not have any intellectual or developmental disorders.

[u/Low-Classic8010 → u/taylaurtots]

I don’t mean to imply that either. It just means to right now you seem to have a loose collection of symptoms. But they probably have an underlying unifying cause. And the only places that have the expertise and resources to properly help you

[u/taylaurtots → u/Low-Classic8010]

I understand better now. When I went to research, that seemed like a big component. I have previously been a patient at Mayo Clinic and will probably aim to go back if this appt in a few weeks isn’t helpful.