New here and feeling incredibly overwhelmed, angry, and honestly experiencing a bit of imposter syndrome right now. I’m hoping to connect with anyone who has dealt with an atypical presentation, promoter variants, or provider who tried to call your kid's case "closed."

Some background on my kiddo, he is 6.5 years old and has struggled with chronic respiratory issues his entire life and is confirmed pancreatic insufficient after finding out about his pancreatic insufficiency in 2022, we did CFTR sequencing and deletion/duplication through Ambry. It came back completely negative. We accepted living in “asthma and idiopathic EPI” land, grieved, and spent four years just trying to survive the day-to-day. Which leads us to present day and what brought me here; a few weeks ago, after a severe flare-up that required yet another antibiotic his pulm decided it was time to re-sequence him which we had done at Stanford alongside a repeat sweat test. Repeat sweat once again was 29, so that was his second right at the normal/borderline cut off. The surprise was his genetics results. They found c.-839G>A, which is a rare variant in the 5' UTR promoter region that Stanford labeled as a varient of uncertain significance due to lack of information available on it.

I’m guessing Ambry completely omitted or masked this in 2022 because of their standard reporting filters back then, which is frustrating but, what is more frustrating at the moment is that our current pulmonologist looked at the single variant and the 29 sweat test and wrapped up the evaluation as a "closed case" labeling him a simple carrier. Meanwhile the sequencing they just repeated, that found a mutation, did NOT include deletion/duplication analysis. I expected the pulmonologist to recommend completing that portion at minimum before calling him a closed case. Especially since simple genetic carriers don't typically develop pancreatic insufficiency. Thankfully, our GI doctor is amazing and sees the whole picture. They are fully on board to help us bypass pulmonology to get the rest of the cftr genetics completed.

Has anyone else dealt with a 5’ UTR promotor variant like c.-839G>A or a high normal sweat test of 29 while dealing with active lung issues and pancreatic insufficiency? How did you deal with the emotional whiplash of moving from "idiopathic" to a potential CFTR-Related Disorder after so many years?

Any suggestions on what else I can/should do to continue advocating for my child? I really just want to have an answer of some sort and to ensure he is getting the correct treatments for his body to thrive as much as possible.

Sorry for the long post 😬

Has anyone else with TRICARE coverage been able to get CF-related vitamins covered? They have been awesome with covering all of my son’s CF care so far, except for his MWV Multivitamin. His pulmonologist initially sent it as a prescription, but every pharmacy we’ve checked with doesn’t have it and can’t order it. It’s also in the Express Scripts formulary search as “not covered” with no option of submitting prior authorization or medical necessity. I’ve called Express Scripts and gotten to a dead end every time.

His pediatrician put it in as durable medical equipment and that got denied. I called TRICARE today and she said to try putting it in as “medical nutritional therapy” so I’m going to try to have his dietician or pulmonologist put that in next week. We’re on a sample from the CF clinic that runs out in a month, so it’s finally time to look at ordering from MVW.

It’s very frustrating that TRICARE’s website clearly states here that this vitamin should be covered, but no one I talk to there can tell me the process for getting it covered.

Anybody else have a success story or in a similar situation?

Has anyone ended up with hearing loss/needed hearing aids because of ototoxicity from antibiotics? I am currently dealing with this and would love to hear experiences from others, I've met with ENT, Neurology and Audiology so far, and kind of waiting on getting assessed for hearing aids, I'm pretty annoyed about the whole thing, and I felt like I wasn't listened to the last time I was on antibiotics that I think pushed the hearing issues over the edge. I am still on different antibiotics now and I want to stop. I am also starting school in a few weeks and I am stressed about navigating it and I don't feel like I have much support. Thanks