A better way to make this same point
@eat your greens would be to link to something like the
NIH GARD database that states:
“The symptoms of FD are present at birth and include difficulty swallowing, and poor control of blood pressure, body temperature and breathing. Other symptoms may include the inability to make tears or feel pain, vomiting episodes, frequent pneumonia, and difficulty walking. Over time, the symptoms of FD tend to get worse and are often life-threatening.”
It can cause problems with blood pressure, but also a slew of other issues that can be life threatening.
Yes but it’s also known as Riley Day syndrome (which they should have known from the start), and since they pointed out they have “multiple mutations” but said they are a carrier, they contradicted themselves. You cannot have multiple pathogenic mutations for a recessive disorder and be a carrier. Makes zero sense. Unless they’re pretending the mutations are non pathogenic, which just would make them a liar. And the truth by omission is still a lie.
Which is what makes me wonder if they got WGS from sequencing.com as opposed to a legit lab, because it sounds exactly like nonsense you’d hear in the EDS sub. That poster claims to have EDS, pots genes (can someone explain this to me??, what genes specifically if any are known? I will try to look into this) and multiple mutations for a disorder but are a carrier. This absolutely sounds like someone who has a bad understand of genetics.
You get people who rely on companies that either have their own classification systems already built in (sequencing), and then databases like Clinvar, who have classification systems based on lab certified reports like gene dx, invitae etc, who already classify the variants by simply compiling the data and that’s how it ends up in a database like Clinvar. For example, let’s say I have a pathogenic mutation for gene 1. Genedx decides to report this result to Clinvar, who eventually publishes it.
Problem is, Sequencing (which goes off Clinvar) has a high false positive rate and also, Clinvar is missing some variants. So if a variant is not in Clinvar at all, not as a vus, benign or pathogenic, Sequencing rates it as harmless, creating a false negative.
You’re not wrong btw, poster could have just avoided this altogether by doing exactly what you said. I’m just really bothered by how ridiculous their claim sounds.
For those who might not get why it sounds dumb, think of it like this:
2 plus 2 always equals 4. Except suddenly, one person claims 2 plus 2 equals 5 and comes up with a convoluted explanation as to why. It just makes no logical or scientific sense
There is still no known genetic marker for hEDS. Sorry but it’s true. There’s discussion all the time about why it hasn’t been found yet and the best guess is that heds is a polygenic factor rather than a simple mandelian disorder.
this article says they found no link between hEDS and tnxb. I know you mentioned tnx. I have heard of several potential bio markers for hEDS and then nothing comes of it. Interestingly enough, it’s the EDS society and the EDS sub that seems to be pushing this stuff, with a few medical journals here and there posting their findings. I think it comes out of sheer desperation.
Last I knew, klk15 gene was of new interest as a candidate gene
Talk about a munchie munching! What sane sick person wants to continue being hospitalized?
