@Potatis Salad, appreciate this. In the video she said she doesn’t know if it’s one gene or multiple, then says it's only says two genes and no mention of what was found, where/ location etc. If anyone knows if a specific gene was mentioned, please let me know because there are gene mutation databases I can sift through.
The average person is a carrier for 3 to 5 genetic syndromes/disorders.
Every single one of us has tons of variants. The majority of which is harmless. Which is why direct to consumer testing like Nebula and 23andme is despised in the genetic community. It’s very easy to misunderstand snps
I am attaching my report I got back which explains the VUS found during testing and what it means, and to also show what an actual diagnostic report looks like so people can understand how information is interpreted clinically since it’s important to always look at the clinical context

in this case, it’s referencing ATRIP-deficient Seckel syndrome, a type of primordial dwarfism. Seckel is recessive, so it requires two copies of a mutation and a 25 percent chance a child would get it. It seems my child is a potential carrier, but this variant has never been reported in literature with known cases, so it’s unknown if it causes disease.
When talking about VUS, it’s important to not make assumptions, esp in the absence of any clinical picture. If Anna has a VUS, she should be ignoring the data unless an actual clinical geneticist or researcher with a phd in genetics says something. There’s a reason genetic counselors exist and if she has never been to one then likely it’s all bull, even if a VUS was found.
Given she still didn’t mention the chromosome or any actual details it’s hard for me to tell if this is legit or not. I’m leaning toward not until I see proof otherwise somewhere. A layperson should not be trying to interpret their own data and maybe that’s what happened, she got some snp report and is misinterpreting what it means.
A legit report would include what I showed so I wonder why she has not shown the paper or made very specific references unlike most genetic testing reports. Maybe she was told the result isn’t relevant but she’s twisting it in her mind to mean she could have something
She isn’t doing this for others, either. Most people with rare syndromes want to raise awareness and do good. Anna’s motives are very different. She wants something to be wrong so she can justify her eating
It’s also unusual she never talks about anything occurring in childhood health wise other than being fat. Rare disorders tend to be apparent from birth or early childhood. Growth issues, feeding issues,
something. And most rare syndromes are pretty devastating. TRPS 1 is “mild” but still causes issues. So I do not think she has a genetic disorder at all. I think an snp or VUS was found and Anna is jumping to conclusions.