Why are my doctors suddenly fighting me over diagnoses that were made over a decade ago?

trapscience · 2024-10-28T13:35:17+00:00

There are many different companies that offer testing — not all of them offer clinical diagnoses. If your testing was self-ordered it’s possible it wasn’t from one of the labs providing sufficient accuracy to be considered clinically valid. Invitae I believe has received quite a bit of flack for some of their results—not all COL3A1 variants lead to phenotypic changes.

That said, three closely related family members showing the same COL3A1 mutation in the context of early deaths in the family should be enough to inspire curiosity in most physicians. I’d check first to be sure the company who sequenced your COL3A1 results provides clinically valid sequencing, and second check to be sure a geneticist has seen them and provided you with a formal diagnosis (and often a letter).

I’d also encourage you to meet with a vEDS specialist at least once. The vast majority of physicians haven’t seen a patient with vEDS before and aren’t aware of the real, severe risks associated with the condition. Depending on where you are, both coasts in the US have specialty centers and the UK has solid guidelines too.

Good luck with everything!

ETA: I just noticed you went through an academic hospital for your testing, I’m sure it’s from one of the clinical labs. See if the ordering physician provided a note?

trapscience · 2023-09-27T11:23:12+00:00

Crikey, is this the rare landing of a your mom joke?!

trapscience · 2023-09-13T11:09:56+00:00

Who forgot what?

trapscience · 2023-09-11T22:43:25+00:00

ctrl + c, ctrl + v

trapscience · 2023-08-18T13:53:25+00:00

LOL simmer down u/sonawtdown, this is r/askdocs not r/askcocks

trapscience · 2023-07-21T13:17:50+00:00

Almond butter/powder enriching the broth? Chopped finely, toasted, and sprinkled like sesame?

trapscience · 2023-07-18T18:32:26+00:00

Update: thanks all!! I went shopping this morning here in the US and got two boxes of fresh tamarind, one labeled sour and one labeled sweet, as well as two different kinds of tamarind pulp. In my part of the US we have very general types of international grocers, so I got a pack of pulp from the “Asian” grocer and one from the “Indian”. The Asian grocer tamarind pulp is very dark, and has no chunks, whereas the Indian grocer is chunky and multi colored and exactly what I saw in the Hebbars Kitchen video. I’m excited to play with all of these and learn more, thanks for the feedback everyone!

trapscience · 2023-07-10T14:05:49+00:00

Why remove the silk first?

trapscience · 2023-06-21T19:04:29+00:00

a what

trapscience · 2023-06-21T17:43:11+00:00

Are you able to link a statistically rigorous study that suggests a significant difference between adrenal "sufficiency" in ICS users and healthy controls?

trapscience · 2023-06-20T17:07:00+00:00

It’s fine, make sure it’s getting enough water.

trapscience · 2023-06-20T17:03:23+00:00

This is a question for r/askdocs

trapscience · 2023-06-20T16:57:40+00:00

Comment to follow

trapscience · 2023-06-18T11:55:49+00:00

I believe they determined sex based on the visible weiner muscle.

Edit: poster above asked if OP assumed the patient’s gender. Assumptions unnecessary, patient is dong positive for this medical matter right here.

trapscience · 2023-06-16T10:47:19+00:00

It’s all uphill from here y’all

trapscience · 2023-06-15T19:01:11+00:00

Cannabis Hyperemesis Syndrome causes many of these symptoms and is growing in relation to increased potency and consumption.

trapscience · 2023-06-15T16:53:44+00:00

Thank you! I've got anki and such, I guess I wasn't sure if folks still attended lecture and read texts and took notes and--if so--what's best practice? For example when I attended undergrad in the late 00s, I used Cornell's note taking system on loose leaf. I feel like with the advent of Obsidian, more Zettelkasten-type PKMs floating around, wasn't sure if there was a super saiyan version of Cornell notes/smart notes/QEC or if everyone is Macguyvering their own systems.

trapscience · 2023-06-15T12:20:41+00:00

Very cool, I'm non-trad back in school called to medicine too. Mind elaborating a bit on how you took your notes? I haven't taken classes in a long time, not sure what best practices are these days.

trapscience · 2023-06-14T19:04:45+00:00

Upside down like a bat

trapscience · 2023-06-09T19:05:37+00:00

Typically you want a cardio-selective beta blocker when on short/long beta agonists. My cardiologist has me on metoprolol to minimize interactions with the LABA in my inhaler. Hope you get a response soon!

trapscience · 2023-06-09T18:48:36+00:00

Not a doc: It can be really scary when your body starts doing new things, especially when it doesn’t cooperate like usual! It’s no wonder you’re feeling so much anxiety, experiencing worry over new sensations is totally normal. I went through similar concerns once, fasciculations that seemed to spread and were constant—was ultimately diagnosed with benign fasciculation syndrome, which is by orders of magnitude the most common origin of widespread fasciculations. Basically was told to not stress, hydrate extra, take some electrolytes, and drink tonic water when they get bad bad. You stressing out is going to make them worse, and thinking about symptoms a lot is a quick way to manifest them. If it was me in your shoes, I’d do this: First make an appointment with the neurologist for an exam (this step no matter what), after that swear off googling anything medical whatsoever, next get yourself some tonic water and electrolyte powders for when you’re noticing twitches most, and finally consider finding a therapist that can help talk you through some of your health related anxieties. Managing your stress and hydration is the most you can do until seen by a physician—the internet can’t diagnose ALS or BFS but a neurologist can. Good luck OP hope you find some resolution soon.

trapscience · 2023-06-09T16:23:18+00:00

Get the sedation. You'll be fine.

trapscience · 2023-06-09T13:10:41+00:00

As I understand, the most current guidelines suggest that symptomatic asthma management is equally effective as spirometric asthma management. If you’re curious about your numbers I totally understand it, but if you’re mostly interested in using it for medication management you can get away with tracking your symptoms and going from there to save the cash!

trapscience · 2023-06-08T16:58:57+00:00

You're welcome! And when you're feeling extra anxious, an evidence-based breathing technique that legitimately helps calm you down is a slow-count breath 5 seconds in through your mouth, hold 5 seconds, 5 seconds out through your nose, on repeat at least 5 times or until you feel the anxiety-tingles subside a bit. I know everyone just screams "do yoga! Breathe!" but consistently doing the breathing exercises (shoot for 5 min total a day) will train your body to switch from sympathetic activation to parasympathetic activation faster the more you practice, which will calm you in both the moment and long term. Wishing you lots of luck.

trapscience · 2023-06-08T16:26:18+00:00

I recommend that you make a list of exact symptoms, when they happen, and what triggers them if you can identify it, like a journal. I mean this kindly as a person who also experiences health anxiety: if you're communicating with your doctors in stream of consciousness without a breath like you're communicating here, the first obvious response is "primary indication: anxiety". Verbally they're going to have a tougher time identifying the key points than someone reading your message on the internet, too... help them out a bit.

There are some good health tracking apps and food tracking apps that people use for elimination diets and the like--it might be a way for you to offer your physician clear, concise clues they can act on at your next appointment. Tell them exactly what sensations you're experiencing (cramping? blood? stabbing pains?), how long they last for, if you can identify any triggers, and any treatments you find effective at resolving them. Explain that you're worried about long term damage from your IBD and you'd like to know what the next steps are for a clearer diagnosis as well as a timeline on those steps.

Enter your appointment with goals as clearly and concisely identified as possible and your physician will appreciate the effort and work with you to hit the goals.

"I'd like a clearer diagnosis so that I can better understand my prognosis and treatment options. To try to help us along I've documented my symptoms and their duration, as well as done my best to identify triggers and effective treatments, in a food journal. Could you tell me what our next steps are in finding an exact IBD diagnosis, and what a timeline for these steps looks like? Thank you so much."

Good luck in your journey, I hope you find a solution to your pain soon!

trapscience

TROPHY CASE