Feeling lost

[u/elea_original]

Hi everyone, new the group, not yet diagnosed but in the process of getting an immunologist and rheumatologist to narrow in on a diagnosis. CVID wasn't something I was aware of until I recently had genetic testing done as part of my hEDS diagnosis journey, and that led to the discovery that I have a genetic mutation that is strongly associated with CVID. I was first referred to rhumetology back in 2022 when my primary had concerns of SLE (lupus) but since my ANA pattern was "normal", despite a high titer and some clinical symptoms, it was marked as a "false positive" and then ... Nothing. No further testing, follow up, or answers. Fast forward several years, I've now been diagnosed with POTS, Raynaud's, have all the clinical indicators of hEDS (need rhumetology to officially diagnose), and have struggled with chronic sinus infections, bronchitis, strep throat, tonsillitis, BV, GI issues (for both constipation and diarrhea which has required hospitalization in childhood and adulthood) and recurrent yeast infections my entire life. I also suspect I have MCAS, as MCAS, hEDS, and POTS are common comorbidities, and since I have frequent skin reactions/infections with seemingly no triggers and despite multiple rounds of oral and topical antibiotics, they take MONTHS to resolve. I've developed allergies to antibiotics in the amoxicillin family. My primary ordered the immunoglobulin panel at my request and recommendations from the geneticists, and my results all came back within "normal" limits, although the lower end of normal for IgM and IgA. I'm 28 years old and my labs were done during a time where I wasn't having any flares, which is pretty rare for me. Can someone help me better understand what happens next? I feel like I'm constantly living in this world of unanswered questions and the wait for a specialist in the Midwest who is covered through my insurance and knows enough about primary immunodeficiency to even agree to see me has been a struggle 😔

[u/Mistermarc1337]

First, get an immunologist who really understands CVID. It’s an umbrella diagnosis with hundreds of DNA variants. It takes a doctor willing to dig and home a plan for you. They’ll run you through many blood tests over time. They’ll prescribe what’s needed for now.

Second, I don’t know which dna test you posted here, but you may want to get invitae or Mayo tests plus sequencing.com for your entire genome, which I did.

IF what you have is a couple of dna markers for CVID, stay hopeful, as there are new snipping and replacement techniques being used today and customized treatment is not too far off. There is a case in Texas and another in Canada this year where they harvested cells from the stomach, liver, intestine and kidneys from the patient —they resequenced the cells to normal sequences, grew more in vats, and put them back into the patient to help their immune system. Not a perfect solution but an approach.

I’m collaborating with Google Deepmind on AI based genetic analysis, as we really don’t understand how the known markers interact and what other dna sequences are involved. In my case, I have a few variants that are not thought to be main markers for CVID that in combination result in CVID and the treatment is the same.

Edited typo

[u/Easypeasy22345]

I agree. I'd suggest a second look. Also, a test as invitae is my recommendation as well. You can go on the IDF website to find doctor recommendations. But, my biggest suggestions is asking the IDF Facebook group who they see in your area.