u/Wise-Professional-58

Hi everyone. I have DiGeorge syndrome, and I’ve recently been digging more deeply into the exact genetic finding behind my diagnosis.
My Invitae genetic testing came back positive for TBX1 Deletion (Entire coding sequence) heterozygous Pathogenic. The report says that a gross deletion encompassing the entire coding sequence of one copy of TBX1 was detected. However, it also says the boundaries of the deletion are unknown because they extend beyond the region that was tested, meaning other neighbouring genes could potentially be deleted as well.
So I know that one complete coding copy of TBX1 is deleted, but I don’t yet know whether this is
an isolated whole gene TBX1 deletion or a very small/atypical 22q11.2 deletion involving TBX1 and a few neighbouring genes, or part of a larger 22q11.2 deletion.
Clinically, I’ve been diagnosed with DiGeorge syndrome and have features like a right sided aortic arch and mild/incompletely expressed hypoparathyroidism with intermittent low calcium. I also have significant immune system problems. I’m especially curious whether anyone else has received genetic results specifically worded as “TBX1 deletion (entire coding sequence)” or had an initially undefined TBX1 deletion.
If so, did you later have a chromosomal microarray or another test that mapped the deletion? Did it turn out to involve only TBX1, a small atypical 22q11.2 region, or the more typical larger deletion?

Hi everyone. I had genetic testing done in 2019 because of my immune problems and other health issues.
The testing found a confirmed harmful change involving the TBX1 gene, which is associated with DiGeorge/22q11 related conditions. It also found a second TBX1 change called:
c.1392_1403del, p.(Ala473_Ala476del)
That second change was labelled a variant of uncertain significance, meaning doctors did not know whether it was harmful or harmless. My report said it had not been reported in other affected people at the time, and I have not been able to find much public information about it since. The two TBX1 findings are on opposite copies of the gene.
I already understand that the confirmed TBX1 deletion can explain my diagnosis. What I keep wondering about is whether the second change has ever been found in anyone else, or whether it could be unique to me or my family.
Has anyone here had a genetic result that seemed to be extremely rare or possibly private to one family? How did you go about finding other people, researchers, or updated information?

I had an Invitae primary immunodeficiency panel done in 2019. The report identified a pathogenic heterozygous deletion of the entire coding sequence of TBX1, along with a second TBX1 variant
NM_080647.1:c.1392_1403del, p.(Ala473_Ala476del)
The report states that the pathogenic deletion and the second variant are on opposite chromosomes, or in trans. The second variant is an in frame deletion of four amino acids and was classified as a variant of uncertain significance. At the time, Invitae said it had not been reported in individuals with TBX1 related conditions and that there were no functional studies available.
I understand that the pathogenic whole gene deletion is already sufficient to support a TBX1 related diagnosis. I am mainly curious about the second allele.
Has anyone encountered this specific variant, seen a more recent classification, or know of any functional or clinical evidence involving the C terminal region of TBX1 around amino acids 473–476?
I am not looking for a diagnosis from Reddit. I am trying to understand whether anything new has been published or submitted to a clinical database since the report was issued.

I’m a dual U.S./Canadian citizen and a NEXUS member. I was crossing at the Detroit Windsor Tunnel around May 31 2026 into June 1, roughly 10 PM to midnight, and I was sent to secondary.

I entered using only my U.S. passport. During secondary, CBP asked me for my full name, phone number, email, and address, even though I assume they already had that information through my passport/NEXUS records. They also asked to see my Canadian passport for their report. At one point I was told I needed to hand over my NEXUS card, and when I asked why, they said they needed to see it to verify something.

One officer asked why I did not use my NEXUS and said I could have used it. I told him I just wanted to use my passport. At one point I asked the officer, “Did I do something wrong?” and he said, “Who said you did anything wrong?” That stuck with me because the whole thing felt like I was in trouble, but he seemed to be saying it was an inspection and not an accusation.

CBP searched my bags, physically searched me, and searched my electronic devices, including my iPhone, iPad, and Windows laptop. They asked me questions about how I get to Canada, how a Canadian family member is related to me, how I got my Canadian citizenship, and whether I live with my mother. One officer also talked with me about his experience at the southern border and mentioned people being tricked into doing things, which made me wonder if they were trying to understand my travel situation or whether someone else was influencing/helping me travel.

They looked through private apps/messages/social media on my phone/iPad, including Facebook, Instagram, and my Grindr account. They also looked at my Driver Note app, which is an app I use to track where I have been and help me remember things, because I sometimes have a hard time remembering events soon after they happen. I also noticed afterward that the NSFW toggle on my Reddit account had been turned off, which was interesting because I do not remember doing that.

From what I could tell, they barely did anything on my Windows laptop. It mostly had Steam/games, downloads, GTA/video game mods, and mod trainers. No apps were open when I got it back, the laptop did not seem warm, and one officer mentioned the internet was acting up. I also later noticed a Wi-Fi network on the laptop that I did not remember connecting to, so I wondered if they may have tried to connect it to internet at some point, but I do not know for sure.

I later checked my Microsoft account app/service activity CSV for that day. The activity I saw mostly showed normal things like known games/game launchers, Rockstar/GTA-related software, Microsoft Photos, Norton 360, Lenovo battery utilities, normal Windows components like Start Menu Experience Host/ShellHost-type processes, Microsoft Edge, and a Mozilla setup stub. I did not see obvious unfamiliar remote-access tools, forensic tools, file-transfer tools, or strange programs showing up. So it looked more like the laptop either was barely used or only briefly checked.

They gave all my devices back before I left. I did not receive a device custody receipt or seizure/detention paperwork. One officer helped me repack my bag afterward when I couldn’t figure out how to get my laptop back in, and another officer talked with me a bit. My NEXUS/TTP dashboard still shows approved.

I’m trying to understand what this usually means. Does this sound like a basic/manual inspection that ended with no issue? If CBP had found a serious problem, would my NEXUS likely have been suspended/revoked or would I have received some kind of notice/paperwork?

I already filed DHS TRIP and a FOIA/Privacy Act request because I want to know whether anything in my record caused the referral and whether anything from my devices was copied, retained, or shared.

Not looking for legal advice, just asking if anyone else with NEXUS has been through a secondary inspection/device search and still had their membership remain approved afterward.

I got searched on Sunday coming back from Toronto. I got in handed them my US passport then I noticed that they where taking a bit longer then I got handed a pamphlet stating there authority to do so. So can it be a random inspection like they don’t even need to have a suspicion they you did anything wrong? I got told to give up my passwords on both my iPhone and iPad and laptop. Then I got put into another room where I was told to put my hands on the wall and they patted me down everywhere. They asked why I went to Toronto who I went to go see how I am related to my aunt etc. Then I sat down waiting for another an hour ish then they gave me back my iPhone and iPad and laptop and then they wanted to see my NEXUS card which is part of the trusted traveller program and it allows for low risk traveller breeze through immigration on both the US and Canadian borders. They wanted to see it to verify me and then they gave me back. I am still approved for NEXUS which is a good thing because if they were to find anything I would have been revoked on the spot. They looked at literally everything. My Facebook my instagram, Reddit, even Grindr for some reason, all of my photos. They barely touched my laptop I noticed it wasn’t hot because that thing can get hot very easily. I did notice a new WIFI name that my PC was connected to but nothing was opened on it through which is weird. The officer that talked with me was nice it was about general life things and how I got my Canadian citizenship etc. Even the same Customs and border officer helped me pack my computer away which was nice of him but still traumatising experience. I never hand an inspection like that. I felt like it was truly random and like everything else in my life I just got unlucky because they only asked stuff about my trip and nothing specific on my computers. I have Autism and anything that break my routine is hard but like this was even more difficult to deal with internally. I am still going back to Canada as I can go where I please but I am going to print out that Ron Swanson meme from parks and recreation where he says “not to worry I have a permit” and the paper says “I can do what I want Ron” on a shirt.

I live in Michigan and I get around $1,500 a month in survivors benefits. Why am I still getting QMB when my monthly income surpasses the $1,350?

My ADOS-2 Module 4 score was:

Communication: 3

Reciprocal Social Interaction: 9

Total score: 9

The report says the ADOS 2 results were above the threshold for autism spectrum disorder. It also says my CARS. 2 score was 37, which fell in the severe level of autism symptoms category. My SCQ L parent report was 29, and the cutoff was 15. My SRS 2 scores were mostly in the severe range too, especially social cognition, social communication, social motivation, and restricted/repetitive behaviours.

My final diagnosis was

F84.0 Autism spectrum disorder, with accompanying intellectual and language impairment; Level 2 requiring substantial support for social communication and Level 1 requiring support for restricted interests repetitive behaviours.

I’m confused because I’ve seen people say an ADOS score of 9 can be below the cutoff depending on the module/scoring, but my report specifically says my result was above the ASD threshold. So I’m guessing maybe different scoring systems algorithms interpret the 9 differently?

The autism part honestly makes sense to me. My old IEPs look very autism like. speech slash language impairment, social communication issues, needing prompting, trouble with eye contact, solitary slash parallel play, sensory stuff, and difficulty with reciprocal conversation. I was just never officially labeled autistic back then.

I’m mostly trying to understand how to explain my level. Am I considered Level 2 or Level 1? The report says Level 2 for social communication and Level 1 for restricted Slash repetitive behaviours, so would it be accurate to say I’m “ASD Level 2 for social communication and Level 1 for RRBs”?

Also, they mention intellectual and language impairment, but they did not give me a full scale IQ in the report. Some scores were average, some were low average, and some were very low. It feels more like a spiky profile than being low across the board.

Just trying to make sense of it because finally having the autism label feels validating, but the scoring and wording is confusing to me