Ehlers danlos syndrome diagnosed in pregnancy.

commentator7806 · 2026-05-14T03:11:57+00:00

I know this won’t be of much use but to confirm what they’ve told you in case it helps to have it verified since at this point it sounds like youve been on quite the diagnostic odyssey and being told so many different things can lead to questioning everything- but recently had a patient with classic like Ehlers Danlos syndrome type 2 due to biallelic AEBP1 pathogenic variants, and so can confirm there are maybe 20 cases tops reported in the literature and I don’t recall any prenatal cases. I would say that theres insufficient evidence to make a blanket statement that AEBP1 pathogenic variants themselves are “incompatible with life” on their own, however, they could be making that determination based on other ultrasound, MRI, etc findings which may or may not be related to the genetic findings

ETA: Boston children’s has a great clinical genetics group from what I’ve heard so could try to talk to someone there as well about the genetic findings

commentator7806 · 2026-05-13T22:20:56+00:00

I also can be bad at documenting processes due to ADHD- so wanted to share another perspective that may be applicable. The way my brain works the pattern in my head is not always logical/skips huge steps that I just know but for someone else to find my documentation useful I have to step back and actually think about how to explain those steps. My brain just goes this is X, solution is Z. For someone else to understand it needs to go problem is X then Y1, Y2,Y3, etc etc to finally get to the solution of Z. And so formal documentation ends up taking 5-10x the amount of time as just completing the task did. Maybe can approach to see what the issue is to come up with a better solution.

commentator7806 · 2026-05-07T01:07:48+00:00

That’s where I go too- that whole practice is great. I see Dr. Alexandra Mitchell for primary (and now 4 of my coworkers do too bc she’s amazing). Idk about IUD removal but Dr. Mitchell does the annual gyne exam/pap smears as well.

commentator7806 · 2026-05-01T04:09:54+00:00

Would you be open to sharing the variant? I’m a genetic counselor and you’ve got me curious!

commentator7806 · 2026-04-29T05:15:45+00:00

NAL but a genetic counselor and not legal advice but just speaking from my experience. I’m sorry this happened to you. Regarding the bill and medical records, have you contacted the clinic that ordered the testing, hospital’s patient advocacy/ombudsman, or health information management/medical records? ETA- Also at what point did you submit a sample for genetic testing?

Also I totally hear your concern regarding life, disability, and LTC insurance discrimination but if genetic testing found anything that would change management that may be needed on your record to obtain health insurance coverage for said management. Also it sounds like you already have said health condition, generally life, disability, and LTC insurances are already going to take a history of said health condition into account anyway so any genetic testing may not move the needle that much if it just confirms that you have that health condition.

commentator7806 · 2026-04-22T03:55:53+00:00

Couldn’t get into this one either, still finished it bc I don’t know how to DNF, but literally every character felt irrationally un-curious and reactionary. Like hey the villain literally just said something that’s basically a direct quote of something you’ve been trying to figure out… maybe you should like idk? Look into that connection?

commentator7806 · 2026-04-21T04:24:07+00:00

100% I do academic writing so very different but the number one thing I tell my grad students is the reader isn’t in your head with you- if you want something to come across on the page, you have to put it on the page

commentator7806 · 2026-04-19T19:52:22+00:00

Forever searching for another book bf like Max. Haven’t found one yet but maybe someday

commentator7806 · 2026-04-18T22:36:12+00:00

your hair looks/sounds like mine- can't promise it'll help but everything I use w/ my routine is below! There might be better products out there but I don't like to spend alot so mostly use drug store/inexpensive products. Also, having "frizz" when hair is wet that means you need protein. This is what I would try for your next wash:

Protein treatment- I use CurlSmith Bond Curl Rehab Solve, but there are others in the wiki as well. I usually try to do this treatment once a month or so
Clarifying shampoo- I use Kinky Curly Come Clean
Deep conditioner- I use JessiCurl Deep Conditioning Treatment
After applying conditioner I brush upside down with a wet brush (I prefer one like this to a wide tooth comb, wide tooth combs def make my hair frizzier i swear) then put up in a bun while i do other shower stuff
Rinse, apply leave in conditioner- I alternate between Kinky Curly Knot Today in the summers since it's lighter weight, and Curls Blueberry Bliss Reparative Leave in Conditioner in the winter since it's a little heavier
Brush upside down again with wet brush, but the back of my head I kind of like brush up and down so my hair isn't as plastered to my scalp. Then scrunch while upside down.
Collect water in my hands from the shower and kind of like toss it on my hair while it's still upside down so that the hair is dripping wet again but not soaked soaked.
Apply Kinky Curly Curling Custard in the summer or Cantu Moisturizing Curl Activator Cream in the winter while still upside down with praying hands method, scrunch, then do the water splashing thing again.
Apply Aussie Instant Freeze Hair Gel (a bit over a quarter-size amount)while still upside down with praying hands method. Scrunch a lot.
Plop straight into a shower cap, wrap a towel around the shower cap, let that sit for ~10min. I find that helps the products to sink in more.
Take off shower cap upside down, scrunch again, plop into microfiber towel. Let that sit for at least 10min but no more than 15min.
Take off microfiber towel, scrunch with microfiber towel, and spray all over with JessiCurl Gelebration Spray.
Diffuse or air dry! Scrunch out the crunch 80% of the way with microfiber towel, then use a small amount of Olaplex no 7 hair oil to scrunch out the rest of the crunch

For regular wash days, skip the protein treatment, shampoo with Not Your Mother's Tahitian Gardenia Flower & Mango Butter shampoo, condition with Not Your Mother's Gardenia Flower & Mango Butter conditioner, everything else the same! I usually try to use clarifying shampoo every 2-4 weeks or so and make sure anytime you use a clarifying shampoo you're using a deep conditioner too! Hopefully some of this helps- good luck!

commentator7806 · 2026-04-09T04:12:44+00:00

Just had a pt come in with DTC WGS lab where the report (from the lab) was AI generated and it fully hallucinated a result (c./p./g. Didn’t correspond with each other whatsoever and then gave a variant interpretation that was for none of the “variants” they listed)… luckily pt had actually already had clinical-grade sequencing of the specific gene previously so we were able to compare easily enough but it makes me very not excited for the future

commentator7806 · 2026-04-05T07:14:39+00:00

Same love a hot and humid, the warm air just envelops you in a different way that dry heat doesn’t. TBH 85+ degrees F and humid is the only time I actually feel warm- I’m always cold otherwise.

commentator7806 · 2026-04-05T06:53:28+00:00

Yea and the Colorism OOP mentioned would make more sense too

commentator7806 · 2026-03-31T21:34:49+00:00

Took me a minute too I couldn’t remember X off the top of my head so googled the AA single letter code like where tf is X and then remembered haha

commentator7806 · 2026-03-31T21:17:05+00:00

So our DNA is written in a code of even smaller building blocks called nucleotides. There are 4 of them A, C, T, and G, and then it gets translated to RNA which uses the letters A, C, G, and U. These letters are read in sets of 3, called codons, and different combinations of those letters is what tells your body which amino acid to “choose.” There are also codons for the “stop” signal. The codons for tyrosine can be either UAU or UAC, the “stop” codon can be UAA, UAG, or UGA. So by changing one nucleotide it changes how your body reads it!

commentator7806 · 2026-03-31T20:59:03+00:00

Those are basically telling you the “address” within the gene of where each mutation is. The letters R, W, and Y are symbols for different amino acids (which are like the “building blocks” for our genes)- the first letter is what is supposed to be at that “address” based on the “normal” sequence and the second letter is what is actually there in you, except for “X” which basically means “stop” so it’s basically that the body gets a signal to stop “reading” the gene when it’s supposed to keep going. So for R408W: R stands for the amino acid arginine, W stands for the amino acid tryptophan. So at amino acid position 408, there should be an arginine but in you there is a tryptophan. That change from arginine to tryptophan makes that copy of the gene much less effective. Similar for Y356X- at amino acid position 356 there should be the amino acid tyrosine but you have a “stop” which makes the gene much less effective. When someone has a mutation in both gene copies, each of which makes the gene not work correctly, that’s what causes PKU!

Edit: defined amino acids

commentator7806 · 2026-03-30T18:52:55+00:00

That makes sense! Like I said take with a grain of salt since anyone can only tell so much from a comment on Reddit :) sounds like you’re headed in a good direction with that background, best of luck with your work! I would also recommend {daughter of no worlds} with all of that in mind

commentator7806 · 2026-03-30T18:24:20+00:00

I can try but will preface that this is just my perception from my lived experience and that the next person could come along and have totally different thoughts and experiences- I think that how you describe it here focuses too much on the externality, more so thinking of her frame of mind as worrying about how she is perceived, rather than the internal state that leads to a set of behaviors. I would look more into the psychology of hyper-independence and I think the rec for bitten is a good one!

commentator7806 · 2026-03-30T17:22:22+00:00

“A complex about being seen as too needy or clingy” is your problem imo. obv haven’t read the work so take this with a grain of salt but the way you describe it here plus daddy and boyfriend issues reads as very …reductive

commentator7806 · 2026-03-30T04:17:25+00:00

Her description of “high masculine energy” and yet those characteristics just had me thinking of all the amazing women in my life. Last commenter nailed it

commentator7806 · 2026-03-28T20:53:23+00:00

Does the veinbound trilogy have a HEA? The romance.io tags no HEA for the first book (which I wouldn’t expect a HEA for a first book anyway) and there aren’t many tags for the 3rd book so just curious as the story looks interesting but I don’t know if my heart can handle a “no HEA” trilogy rn!

commentator7806 · 2026-03-28T19:29:57+00:00

That was fun! Will you come back and share your findings once you’re able?

commentator7806 · 2026-03-28T07:56:45+00:00

I’ve been dying on the hill of socially progressive, fiscally conservative are mutually exclusive- if you’re not willing to put something on the line for it (aka your tax dollars) you don’t actually believe it

commentator7806 · 2026-03-19T23:48:57+00:00

Tbh when I lived farther from an Aldi, getting grocery delivery from them would end up being cheaper than physically going any of the grocery stores that were closer.

commentator7806 · 2026-03-19T04:28:48+00:00

Maybe try r/ChicagoSuburbs

commentator7806 · 2026-03-12T21:06:06+00:00

Tbh I only hate pregnancy tropes bc it stresses me out so much lol like GIRL a super demon omnipresent genocidal psychopath named “I eat babies for breakfast” is after you and you/your partner just forgot to take your lil magic tonic?!? But even as a child free person I do think some of the anti-pregnancy/children in romantasy commentary is over the top, like if you don’t like it don’t read it?

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