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Has anyone been diagnosed as an adult carrier?
Hello,
I’m searching for answers and hoping for help from this community. Hopefully one day I can return the favor.
I’m William, 47, lifelong sufferer of…something…I have the Celiac alleles 2.5/8 and CFTR Delta F509.
Lungs are scarred from…something…but I’ve never had that explained. (Tried very hard…) My issues are endocrine-related and immune-related and they’re impacting my digestion and mental health in a way that’s alarming to me and others.
History
I’ve never been able to eat “normal people” food, subsisting for the last few years on broth, heavy cream, and meat. Now I can’t handle solid food and have lost 25+ pounds in a few short weeks. I am writing this because I left the ER just now and I’m still in the same difficult spot (with tens of thousands in billing, I’m quite sure, and a “report” that looks like it was filled in by a child in the other room who was not listening…in other words, I did not get the main answer I was looking for: Do I have CF or not?).
My question is this: How can I confirm or reject a CF diagnosis? I just got out of the ER and they tested my blood, X-ray-ed my chest, and CAT-scanned my abdomen. Other than confirming the lung scarring (first chest X-ray, in 1998, also showed scarring).
My Conclusion…Imperfect as it Is
CF explains everything rather perfectly when combined with Celiac. Celiac incites autoimmune response in digestive system, autoimmune response compromises CFTR in digestive system (and elsewhere?), decades later the system has some sort of major failure (brought on by some additional external stressor) resulting in CF with pancreatic insufficiency and intestinal obstruction.
CAT scan showed no intestinal obstruction; then again, I stopped eating most solid food sometime in December, because of nausea. (I’ve also flushed that portion of the system via enemas.)
CAT scan showed no issues with my organs which is good because I still want to use them! But I don’t think the negative result rules out CF with PI.
The hospital does not run sweat tests or trypsinogen assays and, in fact, they have no ability to test for CF, other than re-running the same genetic tests that (twice) told me I’m a carrier.
So I am happy and sad; happy to be out of the ER but sad because I will now have to continue my search for answers.
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