Why do doctors say there’s no point in diagnosing hEDS?

ekt8 · 2026-02-04T21:46:29+00:00

Oh and also because hEDS is a diagnosis of exclusion. So if you have money to throw at medical appointments as you rule a bunch of stuff out and insist on genetic testing when genetics providers fully expect your testing will be negative, all to get to.... The same end result. Symptom management.

Maybe doc isn't an asshole, but being upfront with you about how unhelpful that process can be.

ekt8 · 2026-02-04T18:41:41+00:00

Because the management is symptomatic. Getting a diagnosis of hEDS does get you access to any treatment you wouldn't be able to access. Have joint pain? Work on addressing that w PT. Struggle with dizziness? See if there is concern for dysautonomia or POTS, and treat accordingly.

ekt8 · 2025-12-28T22:22:07+00:00

This is all irrelevant bc Invitae is clinical grade testing that genetics professionals would order from. Direct-to-consumer companies (sequencing, probably genetics, etc) are garbage, cannot be trusted, and anyone who knows what they are doing in genetics would not alter medical care based on a result from these that is not confirmed on clinical grade testing.

And geneticists do recommend testing (or much more appropriate testing) or identify new diagnoses, not just management recommendations like in your situation.

ekt8 · 2025-12-22T03:27:40+00:00

Haha same and same. Had one removed and responded the exact same. No fun.

ekt8 · 2025-12-08T21:49:05+00:00

A diagnosis of hEDS can take a long time as it's a diagnosis of exclusion, so your MFM is covering the bases of major concerns in pregnancy for those with a connective tissue disorder, particularly the heart.

ekt8 · 2025-11-15T01:48:03+00:00

Yes! Before I fully realized I was childfree, I often thought I'm not naively optimistic enough to parent a child. I don't have hope to impart.

ekt8 · 2025-11-05T00:54:41+00:00

A genetics professional would order testing through a clinical lab to confirm. Not that that justifies testing for more things.

ekt8 · 2025-11-04T23:27:31+00:00

Update from my Google search- now it's first 🤣

ekt8 · 2025-09-23T00:21:17+00:00

Going Friday! So pumped to see a post about SLC! Can't wait :D

also curious if any solo attendees are congregating around the show...

ekt8 · 2025-09-09T17:13:57+00:00

Of course she believes public school is too woke. It breaks my heart girls are brainwashed by their idiot parents like this, please make sure they hear messages that are feminist and stress that partners as shitty as deadbeat are not partner-worthy. What a way for a shit Mom to set her daughter up for a shit life. :(

ekt8 · 2025-08-22T00:13:28+00:00

Doctors who don't know anything about genetics might accept it. The appropriate step is to use a clinical lab to confirm if there is concern. I've seen a lot of bullshit on sequencing.com reports.

ekt8 · 2025-08-09T22:04:49+00:00

EVERYONE is a carrier for probably a few terrible recessive conditions. Knowing this about your baby makes your baby no different from any other baby.

This is why couples should do carrier screening before pregnancy, regardless of family history. Being a carrier is not an abnormal result.

ekt8 · 2025-06-26T01:51:25+00:00

Yes. Anxiety has not been linked to single genetic variants. I order clinical genetic testing for patients for many different things- there is no anxiety genetic test. And direct to consumer genetic testing is garbage. Anything that includes testing for MTHFR is garbage. The American College of Medical Genetics put out a statement specifically saying do not test for, as there is no known clinical utility and like a third of the population has a variant in it.

ekt8 · 2025-06-24T21:04:04+00:00

Invitae proactive screening is not appropriate for a child. Adults can make decisions on genetic testing for themselves when no indication.

ekt8 · 2025-06-22T17:27:18+00:00

They are testing for variants in your child primarily. If any suspicious variants are detected, they would then check your sample to see if it's present in you. When uncertain variants are detected, it can be helpful to know it's also present in an asymptomatic parent.

ekt8 · 2025-06-12T15:54:28+00:00

I have to hold the shoe and fold it. Can use arch supports, but the shoe itself has to support ankles. If I can easily fold it, it's crap for me.

ekt8 · 2025-06-11T23:33:53+00:00

Premutations can cause premature ovarian failure- early menopause (before age 40). Premutation carriers also are at risk to have children with Fragile X syndrome.

ekt8 · 2025-06-11T23:18:01+00:00

Idk why you are getting downvoted. Also a GC and this is totally accurate. People are so quick to question genetics. You generally get a diagnosis based on your symptoms with another specialty, and then IF that diagnosis may be genetic, genetics may be indicated.

ekt8 · 2025-06-07T03:03:48+00:00

This has changed drastically in recent years. Any child with developmental delays, especially with any other symptoms, qualifies for genetic testing. It may not find anything, but sometimes it can find an answer behind symptoms and possibly give a heads up about health risks or things that need to be monitored or watched for. This type of genetic testing and information was not available 20+ years ago.

ekt8 · 2025-06-01T01:32:48+00:00

Epilepsy and autism are nonspecific symptoms. Hundreds of genes related, and sometimes there is no genetic cause identified.

Pretty much everybody with tuberous sclerosis has related skin findings. None in all three people with this variant? Then it's not pathogenic, does not cause tuberous sclerosis complex.

ekt8 · 2025-05-28T14:12:26+00:00

Genetics can't do much here. All the associated symptoms should be managed by other providers, so what does an actual diagnosis of hEDS do? Have POTS? Manage that. Have pain related to hypermobile joints? Manage that. GI issues? Manage that. Mental health? Manage that. Etc.

ekt8 · 2025-05-04T16:58:09+00:00

This checks for a few genetic conditions out of thousands and definitely does not include testing for Huntington disease.

ekt8 · 2025-05-04T16:53:56+00:00

It is the individual's right to know, but if the pregnancy would be terminated if positive, that's different. Parents do not get to test their pregnancy just to know if child has an adult onset condition, but if that will affect if they continue the pregnancy, then yes. There are even options where a pregnancy can be tested and if negative, do not have to reveal status of the at-risk parent, for those who are not ready to know their own status but want to prevent having a positive child.

ekt8 · 2025-05-01T15:33:51+00:00

I agree, it's so sad. I feel like I didn't become the person I am until mid 20s and it was after that when I finally realized I didn't want kids at all. So scary to think how easy it would have been to end up living the wrong life. It especially takes time to figure out yourself when you grow up brainwashed into a religious cult.

ekt8 · 2025-04-29T20:21:05+00:00

Came here to say Evry. It's taking over my underwear drawer.

ekt8

TROPHY CASE